78 lines
5.1 KiB
Text
78 lines
5.1 KiB
Text
#URL https://www.ncbi.nlm.nih.gov/snp/rs2244693/download/frequency
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#NCBI Reference SNP (rs) Report ALPHA rs2244693
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#Current Build 156
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#Released October 13, 2022
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#Organism Homo sapiens
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#Position chr6:2953018 (GRCh38.p14)
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#Alleles T>A / T>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 T=0.352280 C=0.647720 PRJNA400167
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gnomAD - Exomes Global Study-wide 251048 T=0.318433 C=0.681567 PRJNA398795 SAMN07488253
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gnomAD - Exomes European Sub 135006 T=0.337526 C=0.662474 SAMN10181265
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gnomAD - Exomes Asian Sub 48996 T=0.27851 C=0.72149
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gnomAD - Exomes American Sub 34586 T=0.25565 C=0.74435 SAMN07488255
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gnomAD - Exomes African Sub 16252 T=0.47120 C=0.52880 SAMN07488254
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gnomAD - Exomes Ashkenazi Jewish Sub 10076 T=0.23601 C=0.76399 SAMN07488252
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gnomAD - Exomes Other Sub 6132 T=0.3017 C=0.6983 SAMN07488248
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gnomAD - Genomes Global Study-wide 140124 T=0.363243 C=0.636757 PRJNA398795 SAMN07488253
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gnomAD - Genomes European Sub 75892 T=0.33416 C=0.66584 SAMN10181265
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gnomAD - Genomes African Sub 41990 T=0.46385 C=0.53615 SAMN07488254
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gnomAD - Genomes American Sub 13658 T=0.28877 C=0.71123 SAMN07488255
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gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.2405 C=0.7595 SAMN07488252
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gnomAD - Genomes East Asian Sub 3116 T=0.1900 C=0.8100 SAMN07488251
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gnomAD - Genomes Other Sub 2146 T=0.3388 C=0.6612 SAMN07488248
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ExAC Global Study-wide 121342 T=0.324100 C=0.675900 PRJEB8661 SAMN07490465
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ExAC Europe Sub 73316 T=0.32895 C=0.67105
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ExAC Asian Sub 25150 T=0.28155 C=0.71845
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ExAC American Sub 11570 T=0.25065 C=0.74935
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ExAC African Sub 10398 T=0.47336 C=0.52664
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ExAC Other Sub 908 T=0.338 C=0.662 SAMN07486028
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Allele Frequency Aggregator Total Global 31874 T=0.32672 C=0.67328 PRJNA507278 SAMN10492705
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Allele Frequency Aggregator European Sub 22716 T=0.30908 C=0.69092 SAMN10492695
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Allele Frequency Aggregator African Sub 4722 T=0.4464 C=0.5536 SAMN10492703
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Allele Frequency Aggregator Other Sub 3320 T=0.2961 C=0.7039 SAMN11605645
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Allele Frequency Aggregator Latin American 2 Sub 670 T=0.281 C=0.719 SAMN10492700
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Allele Frequency Aggregator Asian Sub 180 T=0.189 C=0.811 SAMN10492704
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Allele Frequency Aggregator Latin American 1 Sub 168 T=0.315 C=0.685 SAMN10492699
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Allele Frequency Aggregator South Asian Sub 98 T=0.28 C=0.72 SAMN10492702
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14KJPN JAPANESE Study-wide 28258 T=0.21987 C=0.78013 PRJNA678214 SAMN16789458
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8.3KJPN JAPANESE Study-wide 16760 T=0.21820 C=0.78180 PRJNA678214 SAMN16789458
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GO Exome Sequencing Project Global Study-wide 13006 T=0.37121 C=0.62879 PRJNA192955
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GO Exome Sequencing Project European American Sub 8600 T=0.3221 C=0.6779
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GO Exome Sequencing Project African American Sub 4406 T=0.4671 C=0.5329
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1000Genomes_30x Global Study-wide 6404 T=0.3367 C=0.6633 PRJEB31736 SAMN07490465
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1000Genomes_30x African Sub 1786 T=0.5062 C=0.4938 SAMN07486022
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1000Genomes_30x Europe Sub 1266 T=0.2891 C=0.7109 SAMN07488239
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1000Genomes_30x South Asian Sub 1202 T=0.3170 C=0.6830 SAMN07486027
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1000Genomes_30x East Asian Sub 1170 T=0.2051 C=0.7949 SAMN07486024
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1000Genomes_30x American Sub 980 T=0.270 C=0.730 SAMN07488242
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1000Genomes Global Study-wide 5008 T=0.3345 C=0.6655 PRJEB6930 SAMN07490465
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1000Genomes African Sub 1322 T=0.5106 C=0.4894 SAMN07486022
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1000Genomes East Asian Sub 1008 T=0.2113 C=0.7887 SAMN07486024
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1000Genomes Europe Sub 1006 T=0.2932 C=0.7068 SAMN07488239
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1000Genomes South Asian Sub 978 T=0.314 C=0.686 SAMN07486027
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1000Genomes American Sub 694 T=0.267 C=0.733 SAMN07488242
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Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.3348 C=0.6652 PRJNA489787
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The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.3184 C=0.6816 PRJEB7217
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UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.3180 C=0.6820 PRJEB7218
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KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.1782 A=0.0000, C=0.8218 PRJNA589833
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HapMap Global Study-wide 1888 T=0.3628 C=0.6372 PRJNA60817 SAMN10820145
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HapMap American Sub 768 T=0.301 C=0.699 SAMN10821182
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HapMap African Sub 692 T=0.513 C=0.487 SAMN10821181
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HapMap Asian Sub 252 T=0.194 C=0.806 SAMN10821184
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HapMap Europe Sub 176 T=0.284 C=0.716 SAMN10821183
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Korean Genome Project KOREAN Study-wide 1832 T=0.1790 C=0.8210 PRJNA609628
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Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.313 C=0.687 PRJEB5829 SAMN13000132
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A Vietnamese Genetic Variation Database Global Study-wide 611 T=0.247 C=0.753 PRJNA515199 SAMN10744005
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Northern Sweden ACPOP Study-wide 600 T=0.323 C=0.677 PPRJNA503394 SAMN10359154
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Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.283 C=0.717 PRJEB8705 SAMN13001620
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SGDP_PRJ Global Study-wide 520 T=0.231 C=0.769 PRJNA586841
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FINRISK Finnish from FINRISK project Study-wide 304 T=0.375 C=0.625 PRJEB7895 SAMN13002954
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Qatari Global Study-wide 216 T=0.319 C=0.681 PRJNA288297 SAMN13019808
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Siberian Global Study-wide 48 T=0.17 C=0.83 PRJNA267856 SAMN13113809
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The Danish reference pan genome Danish Study-wide 40 T=0.42 C=0.57 PRJEB7725 SAMN13003120
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