Summary
Summary {data-width=650}
Manhattan plot
manhattan_plot
QQ plot
qq_plot
AF plot
af_plot
P-Z plot
pz_plot
beta_std plot
beta_std_plot
Metadata
{
"fileformat": "VCFv4.2",
"FILTER": "<ID=PASS,Description=\"All filters passed\">",
"INFO": "<ID=AF,Number=A,Type=Float,Description=\"Allele Frequency\">",
"FORMAT": "<ID=ES,Number=A,Type=Float,Description=\"Effect size estimate relative to the alternative allele\">",
"FORMAT.1": "<ID=SE,Number=A,Type=Float,Description=\"Standard error of effect size estimate\">",
"FORMAT.2": "<ID=LP,Number=A,Type=Float,Description=\"-log10 p-value for effect estimate\">",
"FORMAT.3": "<ID=AF,Number=A,Type=Float,Description=\"Alternate allele frequency in the association study\">",
"FORMAT.4": "<ID=SS,Number=A,Type=Float,Description=\"Sample size used to estimate genetic effect\">",
"FORMAT.5": "<ID=EZ,Number=A,Type=Float,Description=\"Z-score provided if it was used to derive the EFFECT and SE fields\">",
"FORMAT.6": "<ID=SI,Number=A,Type=Float,Description=\"Accuracy score of summary data imputation\">",
"FORMAT.7": "<ID=NC,Number=A,Type=Float,Description=\"Number of cases used to estimate genetic effect\">",
"FORMAT.8": "<ID=ID,Number=1,Type=String,Description=\"Study variant identifier\">",
"META": "<ID=TotalVariants,Number=1,Type=Integer,Description=\"Total number of variants in input\">",
"META.1": "<ID=VariantsNotRead,Number=1,Type=Integer,Description=\"Number of variants that could not be read\">",
"META.2": "<ID=HarmonisedVariants,Number=1,Type=Integer,Description=\"Total number of harmonised variants\">",
"META.3": "<ID=VariantsNotHarmonised,Number=1,Type=Integer,Description=\"Total number of variants that could not be harmonised\">",
"META.4": "<ID=SwitchedAlleles,Number=1,Type=Integer,Description=\"Total number of variants strand switched\">",
"META.5": "<ID=TotalControls,Number=1,Type=Integer,Description=\"Total number of controls in the association study\">",
"META.6": "<ID=TotalCases,Number=1,Type=Integer,Description=\"Total number of cases in the association study\">",
"META.7": "<ID=StudyType,Number=1,Type=String,Description=\"Type of GWAS study [Continuous or CaseControl]\">",
"SAMPLE": "<ID=UKB-b:12477,TotalVariants=9851866,VariantsNotRead=0,HarmonisedVariants=9851866,VariantsNotHarmonised=0,SwitchedAlleles=9851866,TotalControls=340620,TotalCases=85620,StudyType=CaseControl>",
"contig": "<ID=1,length=249250621,assembly=GRCh37>",
"contig.1": "<ID=2,length=243199373,assembly=GRCh37>",
"contig.2": "<ID=3,length=198022430,assembly=GRCh37>",
"contig.3": "<ID=4,length=191154276,assembly=GRCh37>",
"contig.4": "<ID=5,length=180915260,assembly=GRCh37>",
"contig.5": "<ID=6,length=171115067,assembly=GRCh37>",
"contig.6": "<ID=7,length=159138663,assembly=GRCh37>",
"contig.7": "<ID=8,length=146364022,assembly=GRCh37>",
"contig.8": "<ID=9,length=141213431,assembly=GRCh37>",
"contig.9": "<ID=10,length=135534747,assembly=GRCh37>",
"contig.10": "<ID=11,length=135006516,assembly=GRCh37>",
"contig.11": "<ID=12,length=133851895,assembly=GRCh37>",
"contig.12": "<ID=13,length=115169878,assembly=GRCh37>",
"contig.13": "<ID=14,length=107349540,assembly=GRCh37>",
"contig.14": "<ID=15,length=102531392,assembly=GRCh37>",
"contig.15": "<ID=16,length=90354753,assembly=GRCh37>",
"contig.16": "<ID=17,length=81195210,assembly=GRCh37>",
"contig.17": "<ID=18,length=78077248,assembly=GRCh37>",
"contig.18": "<ID=19,length=59128983,assembly=GRCh37>",
"contig.19": "<ID=20,length=63025520,assembly=GRCh37>",
"contig.20": "<ID=21,length=48129895,assembly=GRCh37>",
"contig.21": "<ID=22,length=51304566,assembly=GRCh37>",
"contig.22": "<ID=X,length=155270560,assembly=GRCh37>",
"contig.23": "<ID=Y,length=59373566,assembly=GRCh37>",
"contig.24": "<ID=MT,length=16569,assembly=GRCh37>",
"contig.25": "<ID=GL000207.1,length=4262,assembly=GRCh37>",
"contig.26": "<ID=GL000226.1,length=15008,assembly=GRCh37>",
"contig.27": "<ID=GL000229.1,length=19913,assembly=GRCh37>",
"contig.28": "<ID=GL000231.1,length=27386,assembly=GRCh37>",
"contig.29": "<ID=GL000210.1,length=27682,assembly=GRCh37>",
"contig.30": "<ID=GL000239.1,length=33824,assembly=GRCh37>",
"contig.31": "<ID=GL000235.1,length=34474,assembly=GRCh37>",
"contig.32": "<ID=GL000201.1,length=36148,assembly=GRCh37>",
"contig.33": "<ID=GL000247.1,length=36422,assembly=GRCh37>",
"contig.34": "<ID=GL000245.1,length=36651,assembly=GRCh37>",
"contig.35": "<ID=GL000197.1,length=37175,assembly=GRCh37>",
"contig.36": "<ID=GL000203.1,length=37498,assembly=GRCh37>",
"contig.37": "<ID=GL000246.1,length=38154,assembly=GRCh37>",
"contig.38": "<ID=GL000249.1,length=38502,assembly=GRCh37>",
"contig.39": "<ID=GL000196.1,length=38914,assembly=GRCh37>",
"contig.40": "<ID=GL000248.1,length=39786,assembly=GRCh37>",
"contig.41": "<ID=GL000244.1,length=39929,assembly=GRCh37>",
"contig.42": "<ID=GL000238.1,length=39939,assembly=GRCh37>",
"contig.43": "<ID=GL000202.1,length=40103,assembly=GRCh37>",
"contig.44": "<ID=GL000234.1,length=40531,assembly=GRCh37>",
"contig.45": "<ID=GL000232.1,length=40652,assembly=GRCh37>",
"contig.46": "<ID=GL000206.1,length=41001,assembly=GRCh37>",
"contig.47": "<ID=GL000240.1,length=41933,assembly=GRCh37>",
"contig.48": "<ID=GL000236.1,length=41934,assembly=GRCh37>",
"contig.49": "<ID=GL000241.1,length=42152,assembly=GRCh37>",
"contig.50": "<ID=GL000243.1,length=43341,assembly=GRCh37>",
"contig.51": "<ID=GL000242.1,length=43523,assembly=GRCh37>",
"contig.52": "<ID=GL000230.1,length=43691,assembly=GRCh37>",
"contig.53": "<ID=GL000237.1,length=45867,assembly=GRCh37>",
"contig.54": "<ID=GL000233.1,length=45941,assembly=GRCh37>",
"contig.55": "<ID=GL000204.1,length=81310,assembly=GRCh37>",
"contig.56": "<ID=GL000198.1,length=90085,assembly=GRCh37>",
"contig.57": "<ID=GL000208.1,length=92689,assembly=GRCh37>",
"contig.58": "<ID=GL000191.1,length=106433,assembly=GRCh37>",
"contig.59": "<ID=GL000227.1,length=128374,assembly=GRCh37>",
"contig.60": "<ID=GL000228.1,length=129120,assembly=GRCh37>",
"contig.61": "<ID=GL000214.1,length=137718,assembly=GRCh37>",
"contig.62": "<ID=GL000221.1,length=155397,assembly=GRCh37>",
"contig.63": "<ID=GL000209.1,length=159169,assembly=GRCh37>",
"contig.64": "<ID=GL000218.1,length=161147,assembly=GRCh37>",
"contig.65": "<ID=GL000220.1,length=161802,assembly=GRCh37>",
"contig.66": "<ID=GL000213.1,length=164239,assembly=GRCh37>",
"contig.67": "<ID=GL000211.1,length=166566,assembly=GRCh37>",
"contig.68": "<ID=GL000199.1,length=169874,assembly=GRCh37>",
"contig.69": "<ID=GL000217.1,length=172149,assembly=GRCh37>",
"contig.70": "<ID=GL000216.1,length=172294,assembly=GRCh37>",
"contig.71": "<ID=GL000215.1,length=172545,assembly=GRCh37>",
"contig.72": "<ID=GL000205.1,length=174588,assembly=GRCh37>",
"contig.73": "<ID=GL000219.1,length=179198,assembly=GRCh37>",
"contig.74": "<ID=GL000224.1,length=179693,assembly=GRCh37>",
"contig.75": "<ID=GL000223.1,length=180455,assembly=GRCh37>",
"contig.76": "<ID=GL000195.1,length=182896,assembly=GRCh37>",
"contig.77": "<ID=GL000212.1,length=186858,assembly=GRCh37>",
"contig.78": "<ID=GL000222.1,length=186861,assembly=GRCh37>",
"contig.79": "<ID=GL000200.1,length=187035,assembly=GRCh37>",
"contig.80": "<ID=GL000193.1,length=189789,assembly=GRCh37>",
"contig.81": "<ID=GL000194.1,length=191469,assembly=GRCh37>",
"contig.82": "<ID=GL000225.1,length=211173,assembly=GRCh37>",
"contig.83": "<ID=GL000192.1,length=547496,assembly=GRCh37>",
"gwas_harmonisation_command": "--out /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/ukbiobank/vcf_09_19b/bgzip_vcf/data.batch_20110_1.vcf.gz --id UKB-b:12477 --data /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/ukbiobank/raw-output/data.batch_20110_1.txt.gz --cohort_cases 85620 --cohort_controls 340620 --ref /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/ukbiobank/human_g1k_v37.fasta --json /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/ukbiobank/ukb_gwas.json; 1.1.1",
"file_date": "2019-09-13T11:49:26.137327",
"bcftools_viewVersion": "1.9-74-g6af271c+htslib-1.9-64-g226b4a8",
"bcftools_viewCommand": "view -T ^/mnt/storage/private/mrcieu/research/scratch/IGD/data/public/UKB-b-12477/mac_discard.txt -Oz /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/UKB-b-12477/UKB-b-12477_raw.vcf.gz; Date=Thu Oct 17 12:27:12 2019",
"bcftools_viewCommand.1": "view -h /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/ukb-b-12477/ukb-b-12477.vcf.gz; Date=Sun May 10 04:28:53 2020"
}
LDSC
*********************************************************************
* LD Score Regression (LDSC)
* Version 1.0.1
* (C) 2014-2019 Brendan Bulik-Sullivan and Hilary Finucane
* Broad Institute of MIT and Harvard / MIT Department of Mathematics
* GNU General Public License v3
*********************************************************************
Call:
./ldsc.py \
--h2 /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/UKB-b-12477/UKB-b-12477_data.vcf.gz \
--ref-ld-chr ../reference/eur_w_ld_chr/ \
--out /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/UKB-b-12477/ldsc.txt \
--w-ld-chr ../reference/eur_w_ld_chr/
Beginning analysis at Thu Oct 17 14:41:58 2019
Reading summary statistics from /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/UKB-b-12477/UKB-b-12477_data.vcf.gz ...
Read summary statistics for 8893604 SNPs.
Dropped 8260 SNPs with duplicated rs numbers.
Reading reference panel LD Score from ../reference/eur_w_ld_chr/[1-22] ...
Read reference panel LD Scores for 1290028 SNPs.
Removing partitioned LD Scores with zero variance.
Reading regression weight LD Score from ../reference/eur_w_ld_chr/[1-22] ...
Read regression weight LD Scores for 1290028 SNPs.
After merging with reference panel LD, 1286763 SNPs remain.
After merging with regression SNP LD, 1286763 SNPs remain.
Using two-step estimator with cutoff at 30.
Total Observed scale h2: 0.0161 (0.0016)
Lambda GC: 1.16
Mean Chi^2: 1.1851
Intercept: 1.0498 (0.0066)
Ratio: 0.2693 (0.0358)
Analysis finished at Thu Oct 17 14:43:41 2019
Total time elapsed: 1.0m:42.44sQC metrics
Metrics
Metrics
{
"af_correlation": 0.9472,
"inflation_factor": 1.1474,
"mean_EFFECT": -4.9188e-06,
"n": "-Inf",
"n_snps": 9851866,
"n_clumped_hits": 9,
"n_p_sig": 429,
"n_mono": 0,
"n_ns": 0,
"n_mac": 0,
"is_snpid_unique": true,
"n_miss_EFFECT": 0,
"n_miss_SE": 0,
"n_miss_PVAL": 0,
"n_miss_AF": 0,
"n_miss_AF_reference": 89576,
"n_est": "NA",
"ratio_se_n": "NA",
"mean_diff": "NaN",
"ratio_diff": "NaN",
"sd_y_est1": "NaN",
"sd_y_est2": "NA",
"r2_sum1": 0,
"r2_sum2": 0,
"r2_sum3": 0,
"r2_sum4": 0,
"ldsc_nsnp_merge_refpanel_ld": 1286763,
"ldsc_nsnp_merge_regression_ld": 1286763,
"ldsc_observed_scale_h2_beta": 0.0161,
"ldsc_observed_scale_h2_se": 0.0016,
"ldsc_intercept_beta": 1.0498,
"ldsc_intercept_se": 0.0066,
"ldsc_lambda_gc": 1.16,
"ldsc_mean_chisq": 1.1851,
"ldsc_ratio": 0.269
}
Flags
| name | value |
|---|---|
| af_correlation | FALSE |
| inflation_factor | FALSE |
| n | TRUE |
| is_snpid_non_unique | FALSE |
| mean_EFFECT_nonfinite | FALSE |
| mean_EFFECT_05 | FALSE |
| mean_EFFECT_01 | FALSE |
| mean_chisq | FALSE |
| n_p_sig | FALSE |
| miss_EFFECT | FALSE |
| miss_SE | FALSE |
| miss_PVAL | FALSE |
| ldsc_ratio | FALSE |
| ldsc_intercept_beta | FALSE |
| n_clumped_hits | FALSE |
| r2_sum1 | FALSE |
| r2_sum2 | FALSE |
| r2_sum3 | FALSE |
| r2_sum4 | FALSE |
Definitions
General metrics
af_correlation: Correlation coefficient betweenAFandAF_reference.inflation_factor(lambda): Genomic inflation factor.mean_EFFECT: Mean ofEFFECTsize.n: Maximum value of reported sample size across all SNPs, \(n\).n_clumped_hits: Number of clumped hits.n_snps: Number of SNPsn_p_sig: Number of SNPs with pvalue below5e-8.n_mono: Number of monomorphic (MAF == 1orMAF == 0) SNPs.n_ns: Number of SNPs with nonsense values:- alleles other than
A, C, G or T. - P-values
< 0or> 1. - negative or infinite standard errors (
<= 0or= Infinity). - infinite beta estimates or allele frequencies
< 0or> 1.
- alleles other than
n_mac: Number of cases whereMAC(\(2 \times N \times MAF\)) is less than6.is_snpid_unique:trueif the combination ofIDREFALTis unique and therefore no duplication in snpid.n_miss_<*>: Number ofNAobservations for<*>column.
se_n metrics
n_est: Estimated sample size value, \(\widehat{n}\).ratio_se_n: \(\texttt{ratio_se_n} = \frac{\sqrt{\widehat{n}}}{\sqrt{n}}\). We expectratio_se_nto be 1. When it is not 1, it implies that the trait did not have a variance of 1, the reported sample size is wrong, or that the SNP-level effective sample sizes differ markedly from the reported sample size.mean_diff: \(\texttt{mean_diff} = \sum_{j} \frac{\widehat{\beta_j^{std}} - \beta_j}{\texttt{n_snps}}\), mean difference between the standardised beta, predicted from P-values, and the observed beta. The difference should be very close to zero if trait has a variance of 1.- \(\widehat{\beta_j^{std}} = \sqrt{\frac{{z}_j^2 / ({z}_j^2 + n -2)}{2 \times {MAF}_j \times (1 - {MAF}_j)}} \times sign({z}_j)\),
- \({z}_j = \frac{\beta_j}{{se}_j}\),
- and \(\beta_j\) is the reported effect size.
ratio_diff: \(\texttt{ratio_diff} = |\frac{\texttt{mean_diff}}{\texttt{mean_diff2}}|\), absolute ratio between the mean ofdiffand the mean ofdiff2(expected difference between the standardised beta predicted from P-values, and the standardised beta derived from the observed beta divided by the predicted SD; NOT reported). The ratio should be close to 1. If different from 1, then implies that the betas are not in a standard deviation scale.- \(\texttt{mean_diff2} = \sum_{j} \frac{\widehat{\beta_j^{std}} - \beta^{\prime}_j}{\texttt{n_snps}}\)
- \(\beta^{\prime}_j = \frac{\beta_j}{\widehat{\texttt{sd2}}_{y}}\)
sd_y_est1: The standard deviation for the trait inferred from the reported sample size, median standard errors for the SNP-trait assocations and SNP variances.- \(\widehat{\texttt{sd1}}_{y} = \frac{\sqrt{n} \times median({se}_j)}{C}\),
- \(C = median(\frac{1}{\sqrt{2 \times {MAF}_j \times (1 - {MAF}_j)}})\),
- and \({se}_j\) is the reported standard error.
sd_y_est2: The standard deviation for the trait inferred from the reported sample size, Z statistics for the SNP-trait effects (beta/se) and allele frequency.- \(\widehat{\texttt{sd2}}_{y} = median(\widehat{sd_j})\),
- \(\widehat{sd_j} = \frac{\beta_j}{\widehat{\beta_j^{std}}}\),
r2 metrics
Sum of variance explained, calculated from the clumped top hits sample.
r2_sum<*>:r2statistics under various assumptions1: \(r^2 = \sum_j{\frac{2 \times \beta_j^2 \times {MAF}_j \times (1 - {MAF}_j)}{\texttt{var1}}}\), \(\texttt{var1} = 1\).2: \(r^2 = \sum_j{\frac{2 \times \beta_j^2 \times {MAF}_j \times (1 - {MAF}_j)}{\texttt{var2}}}\), \(\texttt{var2} = {\widehat{\texttt{sd1}}_{y}}^2\),3: \(r^2 = \sum_j{\frac{2 \times \beta_j^2 \times {MAF}_j \times (1 - {MAF}_j)}{\texttt{var3}}}\), \(\texttt{var3} = {\widehat{\texttt{sd2}}_{y}}^2\),4: \(r^2 = \sum_j{\frac{F_j}{F_j + n - 2}}\), \(F = \frac{\beta_j^2}{{se}_j^2}\).
LDSC metrics
Metrics from LD regression
ldsc_nsnp_merge_refpanel_ld: Number of remaining SNPs after merging with reference panel LD.ldsc_nsnp_merge_regression_ld: Number of remaining SNPs after merging with regression SNP LD.ldsc_observed_scale_h2_{beta,se}Coefficient value and SE for total observed scale h2.ldsc_intercept_{beta,se}: Coefficient value and SE for intercept. Intercept is expected to be 1.ldsc_lambda_gc: Lambda GC statistics.ldsc_mean_chisq: Mean \(\chi^2\) statistics.ldsc_ratio: \(\frac{\texttt{ldsc_intercept_beta} - 1}{\texttt{ldsc_mean_chisq} - 1}\), the proportion of the inflation in the mean \(\chi^2\) that the LD Score regression intercepts ascribes to causes other than polygenic heritability. The value of ratio should be close to zero, though in practice values of 0.1-0.2 are not uncommon, probably due to sample/reference LD Score mismatch or model misspecification (e.g., low LD variants have slightly higher \(h^2\) per SNP).
Flags
When a metric needs attention, the flag should return TRUE.
af_correlation:abs(af_correlation)< 0.7.inflation_factor:inflation_factor> 1.2.n:n(max reported sample size) < 10000.is_snpid_non_unique: NOTis_snpid_unique.mean_EFFECT_nonfinite:mean(EFFECT)isNA,NaN, orInf.mean_EFFECT_05:abs(mean(EFFECT))> 0.5.mean_EFFECT_01:abs(mean(EFFECT))> 0.1.mean_chisq:ldsc_mean_chisq> 1.3 orldsc_mean_chisq< 0.7.n_p_sig:n_p_sig> 1000.miss_<*>:n_miss_<*>/n_snps> 0.01.ldsc_ratio:ldsc_ratio> 0.5ldsc_intercept_beta:ldsc_intercept_beta> 1.5n_clumped_hits:n_clumped_hits> 1000r2_sum<*>:r2_sum<*>> 0.5
Plots
- Manhattan plot
- Red line: \(-log_{10}^{5 \times 10^{-8}}\)
- Blue line: \(-log_{10}^{5 \times 10^{-5}}\)
- QQ plot
- AF plot
- P-Z plot
- beta_std plot: Scatter plot between \(\widehat{\beta_j^{std}}\) and \(\beta_j\)
Diagnostics
Details
Summary stats
| skim_type | skim_variable | n_missing | complete_rate | character.min | character.max | character.empty | character.n_unique | character.whitespace | logical.mean | logical.count | numeric.mean | numeric.sd | numeric.p0 | numeric.p25 | numeric.p50 | numeric.p75 | numeric.p100 | numeric.hist |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| character | ID | 0 | 1.000000 | 3 | 58 | 0 | 8885383 | 0 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
| character | REF | 0 | 1.000000 | 1 | 1 | 0 | 4 | 0 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
| character | ALT | 0 | 1.000000 | 1 | 1 | 0 | 4 | 0 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
| logical | N | 8893604 | 0.000000 | NA | NA | NA | NA | NA | NaN | : | NA | NA | NA | NA | NA | NA | NA | NA |
| numeric | CHROM | 0 | 1.000000 | NA | NA | NA | NA | NA | NA | NA | 8.646415e+00 | 5.759639e+00 | 1.0000000 | 4.000000e+00 | 8.000000e+00 | 1.300000e+01 | 2.200000e+01 | ▇▅▃▂▂ |
| numeric | POS | 0 | 1.000000 | NA | NA | NA | NA | NA | NA | NA | 7.878561e+07 | 5.634305e+07 | 828.0000000 | 3.242226e+07 | 6.934426e+07 | 1.145592e+08 | 2.492385e+08 | ▇▆▅▂▁ |
| numeric | EFFECT | 0 | 1.000000 | NA | NA | NA | NA | NA | NA | NA | -4.900000e-06 | 2.869600e-03 | -0.0316196 | -1.169100e-03 | -4.100000e-06 | 1.160800e-03 | 4.497680e-02 | ▁▃▇▁▁ |
| numeric | SE | 0 | 1.000000 | NA | NA | NA | NA | NA | NA | NA | 2.238800e-03 | 1.603900e-03 | 0.0008358 | 9.928000e-04 | 1.503300e-03 | 3.061500e-03 | 1.931470e-02 | ▇▁▁▁▁ |
| numeric | PVAL | 0 | 1.000000 | NA | NA | NA | NA | NA | NA | NA | 4.797752e-01 | 2.946096e-01 | 0.0000000 | 2.200002e-01 | 4.700002e-01 | 7.400005e-01 | 1.000000e+00 | ▇▇▇▆▇ |
| numeric | PVAL_ztest | 0 | 1.000000 | NA | NA | NA | NA | NA | NA | NA | 4.797753e-01 | 2.945854e-01 | 0.0000000 | 2.192480e-01 | 4.726475e-01 | 7.354034e-01 | 9.999999e-01 | ▇▇▇▆▆ |
| numeric | AF | 0 | 1.000000 | NA | NA | NA | NA | NA | NA | NA | 2.227285e-01 | 2.588267e-01 | 0.0040880 | 2.177900e-02 | 1.050900e-01 | 3.516350e-01 | 9.959120e-01 | ▇▂▁▁▁ |
| numeric | AF_reference | 89576 | 0.989928 | NA | NA | NA | NA | NA | NA | NA | 2.228142e-01 | 2.507545e-01 | 0.0000000 | 1.916930e-02 | 1.222040e-01 | 3.496410e-01 | 1.000000e+00 | ▇▂▁▁▁ |
Head and tail
| CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 49298 | rs200943160 | T | C | -0.0005918 | 0.0015388 | 0.6999999 | 0.7005357 | 0.623849 | 0.7821490 | NA |
| 1 | 54676 | rs2462492 | C | T | 0.0023380 | 0.0015233 | 0.1199999 | 0.1248398 | 0.400441 | NA | NA |
| 1 | 86028 | rs114608975 | T | C | -0.0009004 | 0.0024356 | 0.7099994 | 0.7116189 | 0.103559 | 0.0277556 | NA |
| 1 | 91536 | rs6702460 | G | T | 0.0005695 | 0.0015003 | 0.6999999 | 0.7042814 | 0.456992 | 0.4207270 | NA |
| 1 | 234313 | rs8179466 | C | T | 0.0003038 | 0.0029594 | 0.9199999 | 0.9182315 | 0.074520 | NA | NA |
| 1 | 534192 | rs6680723 | C | T | -0.0020853 | 0.0017142 | 0.2200002 | 0.2237905 | 0.240977 | NA | NA |
| 1 | 546697 | rs12025928 | A | G | -0.0024783 | 0.0021365 | 0.2500000 | 0.2460482 | 0.913389 | NA | NA |
| 1 | 693731 | rs12238997 | A | G | 0.0005145 | 0.0014367 | 0.7199992 | 0.7202466 | 0.116241 | 0.1417730 | NA |
| 1 | 705882 | rs72631875 | G | A | -0.0009292 | 0.0021033 | 0.6600001 | 0.6586332 | 0.067391 | 0.0315495 | NA |
| 1 | 706368 | rs55727773 | A | G | -0.0008688 | 0.0010640 | 0.4100001 | 0.4142080 | 0.515846 | 0.2751600 | NA |
| CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22 | 51219006 | rs28729663 | G | A | -0.0001709 | 0.0012841 | 0.8900000 | 0.8940954 | 0.137842 | 0.2052720 | NA |
| 22 | 51219387 | rs9616832 | T | C | 0.0007165 | 0.0016668 | 0.6700003 | 0.6672984 | 0.073701 | 0.0654952 | NA |
| 22 | 51219704 | rs147475742 | G | A | -0.0003052 | 0.0022341 | 0.8900000 | 0.8913382 | 0.041921 | 0.0473243 | NA |
| 22 | 51221190 | rs369304721 | G | A | 0.0009831 | 0.0022296 | 0.6600001 | 0.6592460 | 0.049703 | NA | NA |
| 22 | 51221731 | rs115055839 | T | C | 0.0007270 | 0.0016677 | 0.6600001 | 0.6628992 | 0.073196 | 0.0625000 | NA |
| 22 | 51222100 | rs114553188 | G | T | -0.0018864 | 0.0019630 | 0.3400001 | 0.3365531 | 0.054424 | 0.0880591 | NA |
| 22 | 51223637 | rs375798137 | G | A | -0.0019534 | 0.0019724 | 0.3200000 | 0.3219971 | 0.054053 | 0.0788738 | NA |
| 22 | 51229805 | rs9616985 | T | C | 0.0006704 | 0.0016738 | 0.6899999 | 0.6887500 | 0.073029 | 0.0730831 | NA |
| 22 | 51232488 | rs376461333 | A | G | -0.0050531 | 0.0039401 | 0.2000000 | 0.1996726 | 0.020033 | NA | NA |
| 22 | 51237063 | rs3896457 | T | C | 0.0006677 | 0.0010234 | 0.5099998 | 0.5140988 | 0.298167 | 0.2050720 | NA |
bcf preview
1 49298 rs10399793 T C . PASS AF=0.623849 ES:SE:LP:AF:ID -0.000591834:0.00153884:0.154902:0.623849:rs10399793
1 54676 rs2462492 C T . PASS AF=0.400441 ES:SE:LP:AF:ID 0.00233798:0.00152334:0.920819:0.400441:rs2462492
1 86028 rs114608975 T C . PASS AF=0.103559 ES:SE:LP:AF:ID -0.000900392:0.00243558:0.148742:0.103559:rs114608975
1 91536 rs6702460 G T . PASS AF=0.456992 ES:SE:LP:AF:ID 0.000569454:0.00150035:0.154902:0.456992:rs6702460
1 234313 rs8179466 C T . PASS AF=0.07452 ES:SE:LP:AF:ID 0.000303819:0.00295942:0.0362122:0.07452:rs8179466
1 534192 rs6680723 C T . PASS AF=0.240977 ES:SE:LP:AF:ID -0.00208533:0.00171419:0.657577:0.240977:rs6680723
1 546697 rs12025928 A G . PASS AF=0.913389 ES:SE:LP:AF:ID -0.00247832:0.00213648:0.60206:0.913389:rs12025928
1 693731 rs12238997 A G . PASS AF=0.116241 ES:SE:LP:AF:ID 0.00051451:0.00143666:0.142668:0.116241:rs12238997
1 705882 rs72631875 G A . PASS AF=0.067391 ES:SE:LP:AF:ID -0.00092924:0.0021033:0.180456:0.067391:rs72631875
1 706368 rs12029736 A G . PASS AF=0.515846 ES:SE:LP:AF:ID -0.000868784:0.00106402:0.387216:0.515846:rs12029736
1 714596 rs149887893 T C . PASS AF=0.033 ES:SE:LP:AF:ID -0.000775861:0.00268205:0.113509:0.033:rs149887893
1 715265 rs12184267 C T . PASS AF=0.036629 ES:SE:LP:AF:ID -0.00129806:0.00243554:0.229148:0.036629:rs12184267
1 715367 rs12184277 A G . PASS AF=0.036738 ES:SE:LP:AF:ID -0.00136111:0.00242663:0.244125:0.036738:rs12184277
1 717485 rs12184279 C A . PASS AF=0.036441 ES:SE:LP:AF:ID -0.00141887:0.00244404:0.251812:0.036441:rs12184279
1 717587 rs144155419 G A . PASS AF=0.016425 ES:SE:LP:AF:ID 0.00338413:0.00376133:0.431798:0.016425:rs144155419
1 720381 rs116801199 G T . PASS AF=0.036979 ES:SE:LP:AF:ID -0.00115727:0.002417:0.200659:0.036979:rs116801199
1 721290 rs12565286 G C . PASS AF=0.037075 ES:SE:LP:AF:ID -0.00136877:0.00240871:0.244125:0.037075:rs12565286
1 722670 rs116030099 T C . PASS AF=0.101242 ES:SE:LP:AF:ID -0.000693226:0.00175472:0.161151:0.101242:rs116030099
1 723891 rs2977670 G C . PASS AF=0.959115 ES:SE:LP:AF:ID 0.00173919:0.00232397:0.346787:0.959115:rs2977670
1 724849 rs12126395 C A . PASS AF=0.031476 ES:SE:LP:AF:ID -0.00403832:0.00421439:0.468521:0.031476:rs12126395
1 725060 rs865924913 A T . PASS AF=0.053304 ES:SE:LP:AF:ID -6.40164e-05:0.00335148:0.00877392:0.053304:rs865924913
1 726794 rs28454925 C G . PASS AF=0.036592 ES:SE:LP:AF:ID -0.00170799:0.00242438:0.318759:0.036592:rs28454925
1 729632 rs116720794 C T . PASS AF=0.036906 ES:SE:LP:AF:ID -0.00112338:0.00240242:0.19382:0.036906:rs116720794
1 729679 rs4951859 C G . PASS AF=0.843277 ES:SE:LP:AF:ID 0.000167414:0.00124468:0.05061:0.843277:rs4951859
1 730087 rs148120343 T C . PASS AF=0.055857 ES:SE:LP:AF:ID -0.00170769:0.0020164:0.39794:0.055857:rs148120343
1 731718 rs58276399 T C . PASS AF=0.12223 ES:SE:LP:AF:ID 0.000485334:0.00136273:0.142668:0.12223:rs58276399
1 732989 rs369030935 C T . PASS AF=0.025726 ES:SE:LP:AF:ID -0.00612821:0.00334848:1.17393:0.025726:rs369030935
1 734349 rs141242758 T C . PASS AF=0.121477 ES:SE:LP:AF:ID 0.000492659:0.00136329:0.142668:0.121477:rs141242758
1 736289 rs79010578 T A . PASS AF=0.132287 ES:SE:LP:AF:ID -0.000522535:0.00134353:0.154902:0.132287:rs79010578
1 736689 rs181876450 T C . PASS AF=0.011092 ES:SE:LP:AF:ID 0.00637401:0.00489423:0.721246:0.011092:rs181876450
1 740284 rs61770167 C T . PASS AF=0.005697 ES:SE:LP:AF:ID -0.00303763:0.00630507:0.200659:0.005697:rs61770167
1 752478 rs146277091 G A . PASS AF=0.03683 ES:SE:LP:AF:ID -0.00130441:0.0023778:0.236572:0.03683:rs146277091
1 752566 rs3094315 G A . PASS AF=0.838993 ES:SE:LP:AF:ID -0.000214305:0.00120549:0.0655015:0.838993:rs3094315
1 752721 rs3131972 A G . PASS AF=0.838621 ES:SE:LP:AF:ID -0.00010714:0.00120414:0.0315171:0.838621:rs3131972
1 753405 rs3115860 C A . PASS AF=0.86987 ES:SE:LP:AF:ID -0.000664572:0.00129247:0.21467:0.86987:rs3115860
1 753541 rs2073813 G A . PASS AF=0.129784 ES:SE:LP:AF:ID 0.000423022:0.00129509:0.130768:0.129784:rs2073813
1 754063 rs12184312 G T . PASS AF=0.037334 ES:SE:LP:AF:ID -0.000891594:0.00233778:0.154902:0.037334:rs12184312
1 754105 rs12184325 C T . PASS AF=0.037575 ES:SE:LP:AF:ID -0.000818442:0.00232315:0.142668:0.037575:rs12184325
1 754182 rs3131969 A G . PASS AF=0.869214 ES:SE:LP:AF:ID -0.000484655:0.0012899:0.148742:0.869214:rs3131969
1 754192 rs3131968 A G . PASS AF=0.86931 ES:SE:LP:AF:ID -0.000486948:0.00129039:0.148742:0.86931:rs3131968
1 754211 rs12184313 G A . PASS AF=0.037535 ES:SE:LP:AF:ID -0.000992119:0.00233304:0.173925:0.037535:rs12184313
1 754334 rs3131967 T C . PASS AF=0.869215 ES:SE:LP:AF:ID -0.000477664:0.00128987:0.148742:0.869215:rs3131967
1 754433 rs150578204 G A . PASS AF=0.005118 ES:SE:LP:AF:ID -0.00190987:0.00662431:0.113509:0.005118:rs150578204
1 754458 rs142682604 G T . PASS AF=0.005083 ES:SE:LP:AF:ID -0.00152844:0.00664187:0.0861861:0.005083:rs142682604
1 754503 rs3115859 G A . PASS AF=0.83807 ES:SE:LP:AF:ID -0.000118522:0.00120078:0.0362122:0.83807:rs3115859
1 754629 rs10454459 A G . PASS AF=0.037545 ES:SE:LP:AF:ID -0.000990629:0.00233643:0.173925:0.037545:rs10454459
1 754964 rs3131966 C T . PASS AF=0.838704 ES:SE:LP:AF:ID -8.40573e-05:0.00120418:0.0268721:0.838704:rs3131966
1 755240 rs181660517 T G . PASS AF=0.013752 ES:SE:LP:AF:ID -0.00200242:0.00420571:0.200659:0.013752:rs181660517
1 755435 rs184270342 T G . PASS AF=0.005552 ES:SE:LP:AF:ID 0.00660854:0.00647922:0.508638:0.005552:rs184270342
1 755775 rs3131965 A G . PASS AF=0.839813 ES:SE:LP:AF:ID -0.000235603:0.00122047:0.0705811:0.839813:rs3131965