#URL https://www.ncbi.nlm.nih.gov/snp/rs253/download/frequency #NCBI Reference SNP (rs) Report ALPHA rs253 #Current Build 156 #Released October 14, 2022 #Organism Homo sapiens #Position chr8:19953906 (GRCh38.p14) #Alleles C>G / C>T #Variation Type SNV (Single Nucleotide Variation) #Publications 5 citations # #Frequency Data Table ################# #Study Population Group Samplesize Ref Allele Alt Allele BioProject ID BioSample ID TopMed Global Study-wide 264690 C=0.473724 T=0.526276 PRJNA400167 Allele Frequency Aggregator Total Global 210006 C=0.535732 T=0.464268 PRJNA507278 SAMN10492705 Allele Frequency Aggregator European Sub 176368 C=0.546641 T=0.453359 SAMN10492695 Allele Frequency Aggregator African Sub 10388 C=0.28090 T=0.71910 SAMN10492703 Allele Frequency Aggregator Latin American 2 Sub 9048 C=0.5819 T=0.4181 SAMN10492700 Allele Frequency Aggregator Other Sub 7406 C=0.5309 T=0.4691 SAMN11605645 Allele Frequency Aggregator South Asian Sub 5056 C=0.5941 T=0.4059 SAMN10492702 Allele Frequency Aggregator Latin American 1 Sub 988 C=0.507 T=0.493 SAMN10492699 Allele Frequency Aggregator Asian Sub 752 C=0.634 T=0.366 SAMN10492704 gnomAD - Genomes Global Study-wide 140004 C=0.467565 T=0.532435 PRJNA398795 SAMN07488253 gnomAD - Genomes European Sub 75820 C=0.54497 T=0.45503 SAMN10181265 gnomAD - Genomes African Sub 41966 C=0.27813 T=0.72187 SAMN07488254 gnomAD - Genomes American Sub 13634 C=0.54364 T=0.45636 SAMN07488255 gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.5894 T=0.4106 SAMN07488252 gnomAD - Genomes East Asian Sub 3116 C=0.6473 T=0.3527 SAMN07488251 gnomAD - Genomes Other Sub 2146 C=0.5042 T=0.4958 SAMN07488248 14KJPN JAPANESE Study-wide 28258 C=0.71435 T=0.28565 PRJNA678214 SAMN16789458 8.3KJPN JAPANESE Study-wide 16760 C=0.71372 T=0.28628 PRJNA678214 SAMN16789458 1000Genomes_30x Global Study-wide 6404 C=0.4808 T=0.5192 PRJEB31736 SAMN07490465 1000Genomes_30x African Sub 1786 C=0.2284 T=0.7716 SAMN07486022 1000Genomes_30x Europe Sub 1266 C=0.5166 T=0.4834 SAMN07488239 1000Genomes_30x South Asian Sub 1202 C=0.5799 T=0.4201 SAMN07486027 1000Genomes_30x East Asian Sub 1170 C=0.6359 T=0.3641 SAMN07486024 1000Genomes_30x American Sub 980 C=0.588 T=0.412 SAMN07488242 1000Genomes Global Study-wide 5008 C=0.4878 T=0.5122 PRJEB6930 SAMN07490465 1000Genomes African Sub 1322 C=0.2284 T=0.7716 SAMN07486022 1000Genomes East Asian Sub 1008 C=0.6458 T=0.3542 SAMN07486024 1000Genomes Europe Sub 1006 C=0.5239 T=0.4761 SAMN07488239 1000Genomes South Asian Sub 978 C=0.574 T=0.426 SAMN07486027 1000Genomes American Sub 694 C=0.579 T=0.421 SAMN07488242 Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.5020 T=0.4980 PRJNA489787 The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.5545 T=0.4455 PRJEB7217 UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.5448 T=0.4552 PRJEB7218 KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.6782 G=0.0000, T=0.3218 PRJNA589833 HGDP-CEPH-db Supplement 1 Global Study-wide 2084 C=0.5509 T=0.4491 PRJEB6463 HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.623 T=0.377 SAMN13169023 HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.609 T=0.391 SAMN13169022 HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.577 T=0.423 SAMN13169025 HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.478 T=0.522 SAMN13169024 HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.236 T=0.764 SAMN13169020 HGDP-CEPH-db Supplement 1 America Sub 216 C=0.671 T=0.329 SAMN13169021 HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=0.64 T=0.36 SAMN13169026 HapMap Global Study-wide 1886 C=0.4724 T=0.5276 PRJNA60817 SAMN10820145 HapMap American Sub 768 C=0.543 T=0.457 SAMN10821182 HapMap African Sub 688 C=0.310 T=0.690 SAMN10821181 HapMap Asian Sub 254 C=0.689 T=0.311 SAMN10821184 HapMap Europe Sub 176 C=0.489 T=0.511 SAMN10821183 Korean Genome Project KOREAN Study-wide 1832 C=0.6850 T=0.3150 PRJNA609628 Genome-wide autozygosity in Daghestan Global Study-wide 1134 C=0.5944 T=0.4056 PRJNA576826 SAMN13013121 Genome-wide autozygosity in Daghestan Daghestan Sub 628 C=0.608 T=0.392 SAMN13013126 Genome-wide autozygosity in Daghestan Near_East Sub 144 C=0.535 T=0.465 SAMN13013123 Genome-wide autozygosity in Daghestan Central Asia Sub 122 C=0.607 T=0.393 SAMN13013124 Genome-wide autozygosity in Daghestan Europe Sub 108 C=0.556 T=0.444 SAMN13013127 Genome-wide autozygosity in Daghestan South Asian Sub 96 C=0.59 T=0.41 SAMN13013122 Genome-wide autozygosity in Daghestan Caucasus Sub 36 C=0.67 T=0.33 SAMN13013125 Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.576 T=0.424 PRJEB5829 SAMN13000132 Chileans Chilean Study-wide 626 C=0.597 T=0.403 PRJNA577585 SAMN13030285 Northern Sweden ACPOP Study-wide 600 C=0.558 T=0.442 PPRJNA503394 SAMN10359154 SGDP_PRJ Global Study-wide 356 C=0.348 T=0.652 PRJNA586841 Qatari Global Study-wide 216 C=0.579 T=0.421 PRJNA288297 SAMN13019808 A Vietnamese Genetic Variation Database Global Study-wide 214 C=0.659 T=0.341 PRJNA515199 SAMN10744005 Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 68 C=0.41 T=0.59 PRJEB36033 SAMN15458807 The Danish reference pan genome Danish Study-wide 40 C=0.62 T=0.38 PRJEB7725 SAMN13003120 Siberian Global Study-wide 28 C=0.36 T=0.64 PRJNA267856 SAMN13113809