72 lines
4.6 KiB
Text
72 lines
4.6 KiB
Text
#URL https://www.ncbi.nlm.nih.gov/snp/rs248/download/frequency
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#NCBI Reference SNP (rs) Report ALPHA rs248
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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 chr8:19953315 (GRCh38.p14)
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#Alleles G>A
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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 G=0.946114 A=0.053886 PRJNA400167
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gnomAD - Exomes Global Study-wide 251356 G=0.950134 A=0.049866 PRJNA398795 SAMN07488253
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gnomAD - Exomes European Sub 135294 G=0.932015 A=0.067985 SAMN10181265
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gnomAD - Exomes Asian Sub 49010 G=0.98027 A=0.01973
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gnomAD - Exomes American Sub 34588 G=0.97626 A=0.02374 SAMN07488255
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gnomAD - Exomes African Sub 16256 G=0.94913 A=0.05087 SAMN07488254
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gnomAD - Exomes Ashkenazi Jewish Sub 10076 G=0.95981 A=0.04019 SAMN07488252
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gnomAD - Exomes Other Sub 6132 G=0.9485 A=0.0515 SAMN07488248
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gnomAD - Genomes Global Study-wide 140212 G=0.941574 A=0.058426 PRJNA398795 SAMN07488253
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gnomAD - Genomes European Sub 75918 G=0.92829 A=0.07171 SAMN10181265
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gnomAD - Genomes African Sub 42034 G=0.95037 A=0.04963 SAMN07488254
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gnomAD - Genomes American Sub 13654 G=0.96763 A=0.03237 SAMN07488255
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gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.9660 A=0.0340 SAMN07488252
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gnomAD - Genomes East Asian Sub 3130 G=1.0000 A=0.0000 SAMN07488251
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gnomAD - Genomes Other Sub 2152 G=0.9503 A=0.0497 SAMN07488248
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ExAC Global Study-wide 121336 G=0.948688 A=0.051312 PRJEB8661 SAMN07490465
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ExAC Europe Sub 73326 G=0.93319 A=0.06681
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ExAC Asian Sub 25156 G=0.98004 A=0.01996
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ExAC American Sub 11550 G=0.97628 A=0.02372
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ExAC African Sub 10398 G=0.95086 A=0.04914
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ExAC Other Sub 906 G=0.956 A=0.044 SAMN07486028
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Allele Frequency Aggregator Total Global 84726 G=0.92941 A=0.07059 PRJNA507278 SAMN10492705
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Allele Frequency Aggregator European Sub 65660 G=0.92563 A=0.07437 SAMN10492695
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Allele Frequency Aggregator Other Sub 10760 G=0.93578 A=0.06422 SAMN11605645
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Allele Frequency Aggregator African Sub 5788 G=0.9451 A=0.0549 SAMN10492703
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Allele Frequency Aggregator Latin American 2 Sub 942 G=0.962 A=0.038 SAMN10492700
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Allele Frequency Aggregator Latin American 1 Sub 890 G=0.951 A=0.049 SAMN10492699
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Allele Frequency Aggregator Asian Sub 508 G=1.000 A=0.000 SAMN10492704
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Allele Frequency Aggregator South Asian Sub 178 G=0.949 A=0.051 SAMN10492702
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GO Exome Sequencing Project Global Study-wide 13006 G=0.93457 A=0.06543 PRJNA192955
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GO Exome Sequencing Project European American Sub 8600 G=0.9295 A=0.0705
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GO Exome Sequencing Project African American Sub 4406 G=0.9444 A=0.0556
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1000Genomes_30x Global Study-wide 6404 G=0.9617 A=0.0383 PRJEB31736 SAMN07490465
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1000Genomes_30x African Sub 1786 G=0.9524 A=0.0476 SAMN07486022
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1000Genomes_30x Europe Sub 1266 G=0.9297 A=0.0703 SAMN07488239
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1000Genomes_30x South Asian Sub 1202 G=0.9725 A=0.0275 SAMN07486027
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1000Genomes_30x East Asian Sub 1170 G=0.9991 A=0.0009 SAMN07486024
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1000Genomes_30x American Sub 980 G=0.962 A=0.038 SAMN07488242
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1000Genomes Global Study-wide 5008 G=0.9613 A=0.0387 PRJEB6930 SAMN07490465
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1000Genomes African Sub 1322 G=0.9478 A=0.0522 SAMN07486022
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1000Genomes East Asian Sub 1008 G=0.9990 A=0.0010 SAMN07486024
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1000Genomes Europe Sub 1006 G=0.9334 A=0.0666 SAMN07488239
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1000Genomes South Asian Sub 978 G=0.970 A=0.030 SAMN07486027
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1000Genomes American Sub 694 G=0.960 A=0.040 SAMN07488242
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Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.8786 A=0.1214 PRJNA489787
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The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9312 A=0.0688 PRJEB7217
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UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9272 A=0.0728 PRJEB7218
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Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.932 A=0.068 PRJEB5829 SAMN13000132
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Northern Sweden ACPOP Study-wide 600 G=0.918 A=0.082 PPRJNA503394 SAMN10359154
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Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.951 A=0.049 PRJEB8705 SAMN13001620
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HapMap Global Study-wide 328 G=0.970 A=0.030 PRJNA60817 SAMN10820145
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HapMap African Sub 120 G=0.975 A=0.025 SAMN10821181
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HapMap American Sub 120 G=0.942 A=0.058 SAMN10821182
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HapMap Asian Sub 88 G=1.00 A=0.00 SAMN10821184
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FINRISK Finnish from FINRISK project Study-wide 304 G=0.934 A=0.066 PRJEB7895 SAMN13002954
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Qatari Global Study-wide 216 G=0.954 A=0.046 PRJNA288297 SAMN13019808
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The Danish reference pan genome Danish Study-wide 40 G=0.95 A=0.05 PRJEB7725 SAMN13003120
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SGDP_PRJ Global Study-wide 18 G=0.44 A=0.56 PRJNA586841
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Siberian Global Study-wide 4 G=0.5 A=0.5 PRJNA267856 SAMN13113809
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