61 lines
3.7 KiB
Text
61 lines
3.7 KiB
Text
#URL https://www.ncbi.nlm.nih.gov/snp/rs247/download/frequency
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#NCBI Reference SNP (rs) Report ALPHA rs247
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#Current Build 156
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#Released October 14, 2022
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#Organism Homo sapiens
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#Position chr8:19953280 (GRCh38.p14)
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#Alleles A>C
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#Variation Type SNV (Single Nucleotide Variation)
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#Publications 0 citations
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#
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#Frequency Data Table
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#################
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#Study Population Group Samplesize Ref Allele Alt Allele BioProject ID BioSample ID
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TopMed Global Study-wide 264690 A=0.978258 C=0.021742 PRJNA400167
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gnomAD - Exomes Global Study-wide 250944 A=0.994114 C=0.005886 PRJNA398795 SAMN07488253
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gnomAD - Exomes European Sub 135086 A=0.999667 C=0.000333 SAMN10181265
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gnomAD - Exomes Asian Sub 48936 A=0.99986 C=0.00014
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gnomAD - Exomes American Sub 34516 A=0.99673 C=0.00327 SAMN07488255
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gnomAD - Exomes African Sub 16222 A=0.92985 C=0.07015 SAMN07488254
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gnomAD - Exomes Ashkenazi Jewish Sub 10070 A=0.98481 C=0.01519 SAMN07488252
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gnomAD - Exomes Other Sub 6114 A=0.9966 C=0.0034 SAMN07488248
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gnomAD - Genomes Global Study-wide 140246 A=0.979115 C=0.020885 PRJNA398795 SAMN07488253
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gnomAD - Genomes European Sub 75956 A=0.99964 C=0.00036 SAMN10181265
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gnomAD - Genomes African Sub 42022 A=0.93451 C=0.06549 SAMN07488254
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gnomAD - Genomes American Sub 13656 A=0.99421 C=0.00579 SAMN07488255
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gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.9889 C=0.0111 SAMN07488252
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gnomAD - Genomes East Asian Sub 3134 A=1.0000 C=0.0000 SAMN07488251
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gnomAD - Genomes Other Sub 2154 A=0.9842 C=0.0158 SAMN07488248
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ExAC Global Study-wide 119306 A=0.993085 C=0.006915 PRJEB8661 SAMN07490465
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ExAC Europe Sub 72252 A=0.99905 C=0.00095
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ExAC Asian Sub 24666 A=0.99988 C=0.00012
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ExAC American Sub 11300 A=0.99726 C=0.00274
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ExAC African Sub 10192 A=0.92936 C=0.07064
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ExAC Other Sub 896 A=0.998 C=0.002 SAMN07486028
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Allele Frequency Aggregator Total Global 23704 A=0.98671 C=0.01329 PRJNA507278 SAMN10492705
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Allele Frequency Aggregator European Sub 15886 A=0.99710 C=0.00290 SAMN10492695
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Allele Frequency Aggregator African Sub 3564 A=0.9324 C=0.0676 SAMN10492703
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Allele Frequency Aggregator Other Sub 3214 A=0.9928 C=0.0072 SAMN11605645
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Allele Frequency Aggregator Latin American 2 Sub 616 A=0.997 C=0.003 SAMN10492700
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Allele Frequency Aggregator Asian Sub 172 A=1.000 C=0.000 SAMN10492704
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Allele Frequency Aggregator Latin American 1 Sub 154 A=0.981 C=0.019 SAMN10492699
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Allele Frequency Aggregator South Asian Sub 98 A=1.00 C=0.00 SAMN10492702
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GO Exome Sequencing Project Global Study-wide 13006 A=0.97655 C=0.02345 PRJNA192955
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GO Exome Sequencing Project European American Sub 8600 A=0.9992 C=0.0008
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GO Exome Sequencing Project African American Sub 4406 A=0.9324 C=0.0676
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1000Genomes_30x Global Study-wide 6404 A=0.9794 C=0.0206 PRJEB31736 SAMN07490465
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1000Genomes_30x African Sub 1786 A=0.9272 C=0.0728 SAMN07486022
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1000Genomes_30x Europe Sub 1266 A=1.0000 C=0.0000 SAMN07488239
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1000Genomes_30x South Asian Sub 1202 A=1.0000 C=0.0000 SAMN07486027
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1000Genomes_30x East Asian Sub 1170 A=1.0000 C=0.0000 SAMN07486024
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1000Genomes_30x American Sub 980 A=0.998 C=0.002 SAMN07488242
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1000Genomes Global Study-wide 5008 A=0.9818 C=0.0182 PRJEB6930 SAMN07490465
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1000Genomes African Sub 1322 A=0.9327 C=0.0673 SAMN07486022
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1000Genomes East Asian Sub 1008 A=1.0000 C=0.0000 SAMN07486024
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1000Genomes Europe Sub 1006 A=1.0000 C=0.0000 SAMN07488239
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1000Genomes South Asian Sub 978 A=1.000 C=0.000 SAMN07486027
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1000Genomes American Sub 694 A=0.997 C=0.003 SAMN07488242
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The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=1.0000 C=0.0000 PRJEB7217
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UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.9997 C=0.0003 PRJEB7218
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Qatari Global Study-wide 216 A=0.986 C=0.014 PRJNA288297 SAMN13019808
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SGDP_PRJ Global Study-wide 6 A=0.5 C=0.5 PRJNA586841
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