#URL https://www.ncbi.nlm.nih.gov/snp/rs2236277/download/frequency #NCBI Reference SNP (rs) Report ALPHA rs2236277 #Current Build 156 #Released October 13, 2022 #Organism Homo sapiens #Position chr6:2959279 (GRCh38.p14) #Alleles C>T #Variation Type SNV (Single Nucleotide Variation) #Publications 2 citations # #Frequency Data Table ################# #Study Population Group Samplesize Ref Allele Alt Allele BioProject ID BioSample ID TopMed Global Study-wide 264690 C=0.697227 T=0.302773 PRJNA400167 gnomAD - Exomes Global Study-wide 251466 C=0.651217 T=0.348783 PRJNA398795 SAMN07488253 gnomAD - Exomes European Sub 135392 C=0.687271 T=0.312729 SAMN10181265 gnomAD - Exomes Asian Sub 49006 C=0.60258 T=0.39742 gnomAD - Exomes American Sub 34592 C=0.50541 T=0.49459 SAMN07488255 gnomAD - Exomes African Sub 16256 C=0.82609 T=0.17391 SAMN07488254 gnomAD - Exomes Ashkenazi Jewish Sub 10080 C=0.62004 T=0.37996 SAMN07488252 gnomAD - Exomes Other Sub 6140 C=0.6541 T=0.3459 SAMN07488248 Allele Frequency Aggregator Total Global 238790 C=0.671741 T=0.328259 PRJNA507278 SAMN10492705 Allele Frequency Aggregator European Sub 203862 C=0.673156 T=0.326844 SAMN10492695 Allele Frequency Aggregator Other Sub 13288 C=0.66436 T=0.33564 SAMN11605645 Allele Frequency Aggregator African Sub 7720 C=0.8118 T=0.1882 SAMN10492703 Allele Frequency Aggregator Latin American 2 Sub 6924 C=0.5183 T=0.4817 SAMN10492700 Allele Frequency Aggregator South Asian Sub 5042 C=0.6559 T=0.3441 SAMN10492702 Allele Frequency Aggregator Latin American 1 Sub 1196 C=0.6982 T=0.3018 SAMN10492699 Allele Frequency Aggregator Asian Sub 758 C=0.459 T=0.541 SAMN10492704 gnomAD - Genomes Global Study-wide 140014 C=0.711729 T=0.288271 PRJNA398795 SAMN07488253 gnomAD - Genomes European Sub 75824 C=0.68551 T=0.31449 SAMN10181265 gnomAD - Genomes African Sub 41956 C=0.81633 T=0.18367 SAMN07488254 gnomAD - Genomes American Sub 13638 C=0.61453 T=0.38547 SAMN07488255 gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.6279 T=0.3721 SAMN07488252 gnomAD - Genomes East Asian Sub 3124 C=0.4872 T=0.5128 SAMN07488251 gnomAD - Genomes Other Sub 2150 C=0.6674 T=0.3326 SAMN07488248 ExAC Global Study-wide 121382 C=0.658961 T=0.341039 PRJEB8661 SAMN07490465 ExAC Europe Sub 73342 C=0.68062 T=0.31938 ExAC Asian Sub 25148 C=0.60995 T=0.39005 ExAC American Sub 11578 C=0.48126 T=0.51874 ExAC African Sub 10406 C=0.82078 T=0.17922 ExAC Other Sub 908 C=0.678 T=0.322 SAMN07486028 14KJPN JAPANESE Study-wide 28258 C=0.50418 T=0.49582 PRJNA678214 SAMN16789458 8.3KJPN JAPANESE Study-wide 16760 C=0.50280 T=0.49720 PRJNA678214 SAMN16789458 GO Exome Sequencing Project Global Study-wide 13006 C=0.72582 T=0.27418 PRJNA192955 GO Exome Sequencing Project European American Sub 8600 C=0.6790 T=0.3210 GO Exome Sequencing Project African American Sub 4406 C=0.8173 T=0.1827 1000Genomes_30x Global Study-wide 6404 C=0.6641 T=0.3359 PRJEB31736 SAMN07490465 1000Genomes_30x African Sub 1786 C=0.8539 T=0.1461 SAMN07486022 1000Genomes_30x Europe Sub 1266 C=0.6643 T=0.3357 SAMN07488239 1000Genomes_30x South Asian Sub 1202 C=0.6306 T=0.3694 SAMN07486027 1000Genomes_30x East Asian Sub 1170 C=0.5128 T=0.4872 SAMN07486024 1000Genomes_30x American Sub 980 C=0.540 T=0.460 SAMN07488242 1000Genomes Global Study-wide 5008 C=0.6587 T=0.3413 PRJEB6930 SAMN07490465 1000Genomes African Sub 1322 C=0.8487 T=0.1513 SAMN07486022 1000Genomes East Asian Sub 1008 C=0.5159 T=0.4841 SAMN07486024 1000Genomes Europe Sub 1006 C=0.6620 T=0.3380 SAMN07488239 1000Genomes South Asian Sub 978 C=0.626 T=0.374 SAMN07486027 1000Genomes American Sub 694 C=0.546 T=0.454 SAMN07488242 Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.6884 T=0.3116 PRJNA489787 The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.6840 T=0.3160 PRJEB7217 UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.7004 T=0.2996 PRJEB7218 KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.5089 T=0.4911 PRJNA589833 HGDP-CEPH-db Supplement 1 Global Study-wide 2082 C=0.6215 T=0.3785 PRJEB6463 HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.549 T=0.451 SAMN13169023 HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.647 T=0.353 SAMN13169022 HGDP-CEPH-db Supplement 1 Middle_Est Sub 348 C=0.655 T=0.345 SAMN13169025 HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.613 T=0.388 SAMN13169024 HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.835 T=0.165 SAMN13169020 HGDP-CEPH-db Supplement 1 America Sub 216 C=0.380 T=0.620 SAMN13169021 HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=0.83 T=0.17 SAMN13169026 HapMap Global Study-wide 1892 C=0.6850 T=0.3150 PRJNA60817 SAMN10820145 HapMap American Sub 770 C=0.609 T=0.391 SAMN10821182 HapMap African Sub 692 C=0.848 T=0.152 SAMN10821181 HapMap Asian Sub 254 C=0.480 T=0.520 SAMN10821184 HapMap Europe Sub 176 C=0.670 T=0.330 SAMN10821183 Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.674 T=0.326 PRJEB5829 SAMN13000132 CNV burdens in cranial meningiomas Global Study-wide 788 C=0.476 T=0.524 PRJEB37584 SAMN15458720 CNV burdens in cranial meningiomas CRM Sub 788 C=0.476 T=0.524 SAMN15458720 A Vietnamese Genetic Variation Database Global Study-wide 616 C=0.534 T=0.466 PRJNA515199 SAMN10744005 Northern Sweden ACPOP Study-wide 600 C=0.690 T=0.310 PPRJNA503394 SAMN10359154 Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.616 T=0.384 PRJEB8705 SAMN13001620 SGDP_PRJ Global Study-wide 342 C=0.360 T=0.640 PRJNA586841 FINRISK Finnish from FINRISK project Study-wide 304 C=0.694 T=0.306 PRJEB7895 SAMN13002954 Qatari Global Study-wide 216 C=0.806 T=0.194 PRJNA288297 SAMN13019808 Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 70 C=0.54 T=0.46 PRJEB36033 SAMN15458807 The Danish reference pan genome Danish Study-wide 40 C=0.78 T=0.23 PRJEB7725 SAMN13003120 Siberian Global Study-wide 24 C=0.46 T=0.54 PRJNA267856 SAMN13113809