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