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:12854,TotalVariants=9851866,VariantsNotRead=0,HarmonisedVariants=9851866,VariantsNotHarmonised=0,SwitchedAlleles=9851866,TotalControls=454789,StudyType=Continuous>",
"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_23119.vcf.gz --id UKB-b:12854 --data /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/ukbiobank/raw-output/data.batch_23119.txt.gz --cohort_controls 454789 --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": "2019-09-13T04:04:18.562511",
"bcftools_viewVersion": "1.9-74-g6af271c+htslib-1.9-64-g226b4a8",
"bcftools_viewCommand": "view -h /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/ukb-b-12854/ukb-b-12854.vcf.gz; Date=Sat May 9 19:52:50 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-12854/UKB-b-12854_data.vcf.gz \
--ref-ld-chr ../reference/eur_w_ld_chr/ \
--out /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/UKB-b-12854/ldsc.txt \
--w-ld-chr ../reference/eur_w_ld_chr/
Beginning analysis at Thu Oct 17 14:42:07 2019
Reading summary statistics from /mnt/storage/private/mrcieu/research/scratch/IGD/data/public/UKB-b-12854/UKB-b-12854_data.vcf.gz ...
Read summary statistics for 9851866 SNPs.
Dropped 14738 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, 1289166 SNPs remain.
After merging with regression SNP LD, 1289166 SNPs remain.
Using two-step estimator with cutoff at 30.
Total Observed scale h2: 0.2034 (0.0057)
Lambda GC: 2.3137
Mean Chi^2: 3.0363
Intercept: 1.1788 (0.0169)
Ratio: 0.0878 (0.0083)
Analysis finished at Thu Oct 17 14:43:57 2019
Total time elapsed: 1.0m:50.39sQC metrics
Metrics
Metrics
{
"af_correlation": 0.9499,
"inflation_factor": 1.8418,
"mean_EFFECT": 0,
"n": "-Inf",
"n_snps": 9851866,
"n_clumped_hits": 394,
"n_p_sig": 48540,
"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": 184849,
"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": 1289166,
"ldsc_nsnp_merge_regression_ld": 1289166,
"ldsc_observed_scale_h2_beta": 0.2034,
"ldsc_observed_scale_h2_se": 0.0057,
"ldsc_intercept_beta": 1.1788,
"ldsc_intercept_se": 0.0169,
"ldsc_lambda_gc": 2.3137,
"ldsc_mean_chisq": 3.0363,
"ldsc_ratio": 0.0878
}
Flags
| name | value |
|---|---|
| af_correlation | FALSE |
| inflation_factor | TRUE |
| n | TRUE |
| is_snpid_non_unique | FALSE |
| mean_EFFECT_nonfinite | FALSE |
| mean_EFFECT_05 | FALSE |
| mean_EFFECT_01 | FALSE |
| mean_chisq | TRUE |
| n_p_sig | TRUE |
| 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 | 1.0000000 | 3 | 58 | 0 | 9837196 | 0 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
| character | REF | 0 | 1.0000000 | 1 | 1 | 0 | 4 | 0 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
| character | ALT | 0 | 1.0000000 | 1 | 1 | 0 | 4 | 0 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
| logical | N | 9851866 | 0.0000000 | NA | NA | NA | NA | NA | NaN | : | NA | NA | NA | NA | NA | NA | NA | NA |
| numeric | CHROM | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 8.622825e+00 | 5.748290e+00 | 1.0000000 | 4.000000e+00 | 8.000000e+00 | 1.300000e+01 | 2.200000e+01 | ▇▅▃▂▂ |
| numeric | POS | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 7.886027e+07 | 5.628334e+07 | 828.0000000 | 3.259061e+07 | 6.948835e+07 | 1.145912e+08 | 2.492385e+08 | ▇▆▅▂▁ |
| numeric | EFFECT | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 3.890000e-05 | 8.237600e-03 | -0.2120530 | -3.121400e-03 | 1.940000e-05 | 3.168600e-03 | 1.393190e-01 | ▁▁▅▇▁ |
| numeric | SE | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 5.274300e-03 | 4.992000e-03 | 0.0014738 | 1.806900e-03 | 3.029900e-03 | 6.990800e-03 | 7.754490e-02 | ▇▁▁▁▁ |
| numeric | PVAL | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 4.023378e-01 | 3.106215e-01 | 0.0000000 | 1.100001e-01 | 3.599996e-01 | 6.700003e-01 | 1.000000e+00 | ▇▅▃▃▃ |
| numeric | PVAL_ztest | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 4.023402e-01 | 3.105993e-01 | 0.0000000 | 1.089720e-01 | 3.616657e-01 | 6.684035e-01 | 1.000000e+00 | ▇▅▃▃▃ |
| numeric | AF | 0 | 1.0000000 | NA | NA | NA | NA | NA | NA | NA | 2.035078e-01 | 2.568614e-01 | 0.0009850 | 1.317000e-02 | 7.791450e-02 | 3.164548e-01 | 9.990060e-01 | ▇▂▁▁▁ |
| numeric | AF_reference | 184849 | 0.9812372 | NA | NA | NA | NA | NA | NA | NA | 2.068392e-01 | 2.482924e-01 | 0.0000000 | 1.198080e-02 | 9.984030e-02 | 3.202880e-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 | -0.0020897 | 0.0027094 | 0.4400003 | 0.4405307 | 0.623735 | 0.7821490 | NA |
| 1 | 54676 | rs2462492 | C | T | 0.0025404 | 0.0026847 | 0.3400001 | 0.3440205 | 0.400350 | NA | NA |
| 1 | 86028 | rs114608975 | T | C | 0.0094022 | 0.0042916 | 0.0280001 | 0.0284633 | 0.103559 | 0.0277556 | NA |
| 1 | 91536 | rs6702460 | G | T | 0.0008808 | 0.0026428 | 0.7400005 | 0.7389362 | 0.456844 | 0.4207270 | NA |
| 1 | 234313 | rs8179466 | C | T | -0.0089816 | 0.0052134 | 0.0850002 | 0.0849234 | 0.074495 | NA | NA |
| 1 | 534192 | rs6680723 | C | T | 0.0018460 | 0.0030192 | 0.5400003 | 0.5409215 | 0.240936 | NA | NA |
| 1 | 546697 | rs12025928 | A | G | -0.0005842 | 0.0037665 | 0.8800001 | 0.8767398 | 0.913464 | NA | NA |
| 1 | 693731 | rs12238997 | A | G | 0.0023522 | 0.0025316 | 0.3500000 | 0.3528214 | 0.116214 | 0.1417730 | NA |
| 1 | 705882 | rs72631875 | G | A | 0.0029898 | 0.0037068 | 0.4199997 | 0.4199043 | 0.067323 | 0.0315495 | NA |
| 1 | 706368 | rs55727773 | A | G | 0.0004502 | 0.0018745 | 0.8100000 | 0.8102176 | 0.515784 | 0.2751600 | NA |
| CHROM | POS | ID | REF | ALT | EFFECT | SE | PVAL | PVAL_ztest | AF | AF_reference | N |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22 | 51219704 | rs147475742 | G | A | 0.0054685 | 0.0039531 | 0.1700000 | 0.1665544 | 0.041967 | 0.0473243 | NA |
| 22 | 51219766 | rs182321900 | C | T | 0.0043485 | 0.0183981 | 0.8100000 | 0.8131552 | 0.001942 | NA | NA |
| 22 | 51220146 | rs868950473 | C | T | 0.0025019 | 0.0182229 | 0.8900000 | 0.8907973 | 0.001991 | NA | NA |
| 22 | 51221190 | rs369304721 | G | A | 0.0045293 | 0.0039460 | 0.2500000 | 0.2510468 | 0.049761 | NA | NA |
| 22 | 51221731 | rs115055839 | T | C | 0.0050066 | 0.0029517 | 0.0899995 | 0.0898502 | 0.073278 | 0.0625000 | NA |
| 22 | 51222100 | rs114553188 | G | T | -0.0005474 | 0.0034752 | 0.8700001 | 0.8748412 | 0.054490 | 0.0880591 | NA |
| 22 | 51223637 | rs375798137 | G | A | -0.0005006 | 0.0034920 | 0.8900000 | 0.8860124 | 0.054119 | 0.0788738 | NA |
| 22 | 51229805 | rs9616985 | T | C | 0.0048088 | 0.0029624 | 0.1000000 | 0.1045325 | 0.073112 | 0.0730831 | NA |
| 22 | 51232488 | rs376461333 | A | G | 0.0002072 | 0.0069772 | 0.9800000 | 0.9763141 | 0.020058 | NA | NA |
| 22 | 51237063 | rs3896457 | T | C | 0.0044504 | 0.0018128 | 0.0140001 | 0.0140875 | 0.297897 | 0.2050720 | NA |
bcf preview
1 49298 rs10399793 T C . PASS AF=0.623735 ES:SE:LP:AF:ID -0.00208973:0.00270937:0.356547:0.623735:rs10399793
1 54676 rs2462492 C T . PASS AF=0.40035 ES:SE:LP:AF:ID 0.00254041:0.00268471:0.468521:0.40035:rs2462492
1 86028 rs114608975 T C . PASS AF=0.103559 ES:SE:LP:AF:ID 0.00940219:0.00429159:1.55284:0.103559:rs114608975
1 91536 rs6702460 G T . PASS AF=0.456844 ES:SE:LP:AF:ID 0.000880756:0.00264283:0.130768:0.456844:rs6702460
1 234313 rs8179466 C T . PASS AF=0.074495 ES:SE:LP:AF:ID -0.00898163:0.00521337:1.07058:0.074495:rs8179466
1 534192 rs6680723 C T . PASS AF=0.240936 ES:SE:LP:AF:ID 0.00184603:0.00301925:0.267606:0.240936:rs6680723
1 546697 rs12025928 A G . PASS AF=0.913464 ES:SE:LP:AF:ID -0.0005842:0.00376652:0.0555173:0.913464:rs12025928
1 693731 rs12238997 A G . PASS AF=0.116214 ES:SE:LP:AF:ID 0.00235215:0.00253156:0.455932:0.116214:rs12238997
1 705882 rs72631875 G A . PASS AF=0.067323 ES:SE:LP:AF:ID 0.00298985:0.00370679:0.376751:0.067323:rs72631875
1 706368 rs12029736 A G . PASS AF=0.515784 ES:SE:LP:AF:ID 0.000450162:0.00187454:0.091515:0.515784:rs12029736
1 714596 rs149887893 T C . PASS AF=0.032986 ES:SE:LP:AF:ID -0.00099089:0.00472627:0.0809219:0.032986:rs149887893
1 715265 rs12184267 C T . PASS AF=0.036597 ES:SE:LP:AF:ID -0.00174971:0.00429344:0.167491:0.036597:rs12184267
1 715367 rs12184277 A G . PASS AF=0.036716 ES:SE:LP:AF:ID -0.00180258:0.00427688:0.173925:0.036716:rs12184277
1 717485 rs12184279 C A . PASS AF=0.036413 ES:SE:LP:AF:ID -0.00255009:0.00430795:0.259637:0.036413:rs12184279
1 717587 rs144155419 G A . PASS AF=0.016393 ES:SE:LP:AF:ID -0.00380556:0.00663438:0.244125:0.016393:rs144155419
1 720381 rs116801199 G T . PASS AF=0.036953 ES:SE:LP:AF:ID -0.00213781:0.0042602:0.207608:0.036953:rs116801199
1 721290 rs12565286 G C . PASS AF=0.037051 ES:SE:LP:AF:ID -0.002358:0.00424549:0.236572:0.037051:rs12565286
1 722670 rs116030099 T C . PASS AF=0.10124 ES:SE:LP:AF:ID 0.00158927:0.00309212:0.21467:0.10124:rs116030099
1 723891 rs2977670 G C . PASS AF=0.959098 ES:SE:LP:AF:ID 0.00259888:0.00409366:0.275724:0.959098:rs2977670
1 724849 rs12126395 C A . PASS AF=0.031462 ES:SE:LP:AF:ID 0.00835114:0.00742653:0.585027:0.031462:rs12126395
1 725060 rs865924913 A T . PASS AF=0.053253 ES:SE:LP:AF:ID -0.00390178:0.0059078:0.29243:0.053253:rs865924913
1 726794 rs28454925 C G . PASS AF=0.036572 ES:SE:LP:AF:ID -0.00284417:0.00427276:0.29243:0.036572:rs28454925
1 729632 rs116720794 C T . PASS AF=0.03689 ES:SE:LP:AF:ID -0.00339769:0.00423385:0.376751:0.03689:rs116720794
1 729679 rs4951859 C G . PASS AF=0.843324 ES:SE:LP:AF:ID -0.000729294:0.0021934:0.130768:0.843324:rs4951859
1 730087 rs148120343 T C . PASS AF=0.055855 ES:SE:LP:AF:ID -0.00217653:0.00355225:0.267606:0.055855:rs148120343
1 731718 rs58276399 T C . PASS AF=0.122189 ES:SE:LP:AF:ID 0.0017524:0.00240142:0.327902:0.122189:rs58276399
1 732989 rs369030935 C T . PASS AF=0.025732 ES:SE:LP:AF:ID -0.00943716:0.00590053:0.958607:0.025732:rs369030935
1 734349 rs141242758 T C . PASS AF=0.12143 ES:SE:LP:AF:ID 0.00197084:0.00240244:0.387216:0.12143:rs141242758
1 736289 rs79010578 T A . PASS AF=0.132213 ES:SE:LP:AF:ID 0.000911049:0.00236749:0.154902:0.132213:rs79010578
1 736689 rs181876450 T C . PASS AF=0.011123 ES:SE:LP:AF:ID -0.00208366:0.00861289:0.091515:0.011123:rs181876450
1 740284 rs61770167 C T . PASS AF=0.005693 ES:SE:LP:AF:ID 0.0163627:0.0111115:0.853872:0.005693:rs61770167
1 742813 rs112573343 C T . PASS AF=0.002287 ES:SE:LP:AF:ID 0.0139288:0.0186011:0.346787:0.002287:rs112573343
1 746189 rs139221807 A G . PASS AF=0.001037 ES:SE:LP:AF:ID 0.0203915:0.0304273:0.30103:0.001037:rs139221807
1 752478 rs146277091 G A . PASS AF=0.036804 ES:SE:LP:AF:ID -0.00273308:0.00419108:0.29243:0.036804:rs146277091
1 752566 rs3094315 G A . PASS AF=0.839054 ES:SE:LP:AF:ID -0.000713711:0.00212403:0.130768:0.839054:rs3094315
1 752721 rs3131972 A G . PASS AF=0.838681 ES:SE:LP:AF:ID -0.000334318:0.00212169:0.0604807:0.838681:rs3131972
1 753405 rs3115860 C A . PASS AF=0.869874 ES:SE:LP:AF:ID -0.00189906:0.00227696:0.39794:0.869874:rs3115860
1 753541 rs2073813 G A . PASS AF=0.129765 ES:SE:LP:AF:ID 0.00116625:0.00228172:0.21467:0.129765:rs2073813
1 754063 rs12184312 G T . PASS AF=0.037316 ES:SE:LP:AF:ID -0.00322925:0.00412004:0.366532:0.037316:rs12184312
1 754105 rs12184325 C T . PASS AF=0.037561 ES:SE:LP:AF:ID -0.00317296:0.00409395:0.356547:0.037561:rs12184325
1 754182 rs3131969 A G . PASS AF=0.869219 ES:SE:LP:AF:ID -0.001498:0.00227248:0.29243:0.869219:rs3131969
1 754192 rs3131968 A G . PASS AF=0.869316 ES:SE:LP:AF:ID -0.00150664:0.00227339:0.29243:0.869316:rs3131968
1 754211 rs12184313 G A . PASS AF=0.037514 ES:SE:LP:AF:ID -0.00333337:0.00411191:0.376751:0.037514:rs12184313
1 754334 rs3131967 T C . PASS AF=0.869222 ES:SE:LP:AF:ID -0.00145769:0.00227244:0.283997:0.869222:rs3131967
1 754433 rs150578204 G A . PASS AF=0.005132 ES:SE:LP:AF:ID -0.00262044:0.0116489:0.0861861:0.005132:rs150578204
1 754458 rs142682604 G T . PASS AF=0.005098 ES:SE:LP:AF:ID -0.00259076:0.011679:0.0861861:0.005098:rs142682604
1 754503 rs3115859 G A . PASS AF=0.838138 ES:SE:LP:AF:ID -0.00019742:0.00211585:0.0315171:0.838138:rs3115859
1 754629 rs10454459 A G . PASS AF=0.037526 ES:SE:LP:AF:ID -0.00365474:0.00411772:0.431798:0.037526:rs10454459
1 754964 rs3131966 C T . PASS AF=0.83877 ES:SE:LP:AF:ID -0.000356791:0.00212182:0.0604807:0.83877:rs3131966
1 755240 rs181660517 T G . PASS AF=0.013776 ES:SE:LP:AF:ID 0.00192928:0.00740317:0.102373:0.013776:rs181660517