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