73 lines
4.7 KiB
Text
73 lines
4.7 KiB
Text
#URL https://www.ncbi.nlm.nih.gov/snp/rs254/download/frequency
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#NCBI Reference SNP (rs) Report ALPHA rs254
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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 chr8:19954386 (GRCh38.p14)
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#Alleles C>G
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#Variation Type SNV (Single Nucleotide Variation)
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#Publications 1 citation
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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=0.817662 G=0.182338 PRJNA400167
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gnomAD - Exomes Global Study-wide 248048 C=0.833004 G=0.166996 PRJNA398795 SAMN07488253
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gnomAD - Exomes European Sub 132898 C=0.861059 G=0.138941 SAMN10181265
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gnomAD - Exomes Asian Sub 48654 C=0.77708 G=0.22292
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gnomAD - Exomes American Sub 34278 C=0.84279 G=0.15721 SAMN07488255
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gnomAD - Exomes African Sub 16124 C=0.76414 G=0.23586 SAMN07488254
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gnomAD - Exomes Ashkenazi Jewish Sub 10018 C=0.80505 G=0.19495 SAMN07488252
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gnomAD - Exomes Other Sub 6076 C=0.8408 G=0.1592 SAMN07488248
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gnomAD - Genomes Global Study-wide 140072 C=0.824040 G=0.175960 PRJNA398795 SAMN07488253
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gnomAD - Genomes European Sub 75898 C=0.85594 G=0.14406 SAMN10181265
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gnomAD - Genomes African Sub 41920 C=0.76999 G=0.23001 SAMN07488254
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gnomAD - Genomes American Sub 13654 C=0.82408 G=0.17592 SAMN07488255
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gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.8064 G=0.1936 SAMN07488252
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gnomAD - Genomes East Asian Sub 3126 C=0.7866 G=0.2134 SAMN07488251
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gnomAD - Genomes Other Sub 2152 C=0.8332 G=0.1668 SAMN07488248
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ExAC Global Study-wide 117942 C=0.829323 G=0.170677 PRJEB8661 SAMN07490465
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ExAC Europe Sub 71332 C=0.85511 G=0.14489
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ExAC Asian Sub 24506 C=0.77348 G=0.22652
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ExAC American Sub 11062 C=0.84153 G=0.15847
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ExAC African Sub 10152 C=0.76714 G=0.23286
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ExAC Other Sub 890 C=0.857 G=0.143 SAMN07486028
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14KJPN JAPANESE Study-wide 28258 C=0.77946 G=0.22054 PRJNA678214 SAMN16789458
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Allele Frequency Aggregator Total Global 27952 C=0.83432 G=0.16568 PRJNA507278 SAMN10492705
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Allele Frequency Aggregator European Sub 20398 C=0.84881 G=0.15119 SAMN10492695
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Allele Frequency Aggregator African Sub 3554 C=0.7665 G=0.2335 SAMN10492703
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Allele Frequency Aggregator Other Sub 2978 C=0.8220 G=0.1780 SAMN11605645
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Allele Frequency Aggregator Latin American 2 Sub 610 C=0.836 G=0.164 SAMN10492700
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Allele Frequency Aggregator Asian Sub 168 C=0.726 G=0.274 SAMN10492704
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Allele Frequency Aggregator Latin American 1 Sub 146 C=0.877 G=0.123 SAMN10492699
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Allele Frequency Aggregator South Asian Sub 98 C=0.77 G=0.23 SAMN10492702
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8.3KJPN JAPANESE Study-wide 16760 C=0.77679 G=0.22321 PRJNA678214 SAMN16789458
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GO Exome Sequencing Project Global Study-wide 13006 C=0.89651 G=0.10349 PRJNA192955
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GO Exome Sequencing Project European American Sub 8600 C=0.9210 G=0.0790
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GO Exome Sequencing Project African American Sub 4406 C=0.8486 G=0.1514
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1000Genomes_30x Global Study-wide 6404 C=0.7884 G=0.2116 PRJEB31736 SAMN07490465
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1000Genomes_30x African Sub 1786 C=0.7732 G=0.2268 SAMN07486022
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1000Genomes_30x Europe Sub 1266 C=0.8325 G=0.1675 SAMN07488239
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1000Genomes_30x South Asian Sub 1202 C=0.7671 G=0.2329 SAMN07486027
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1000Genomes_30x East Asian Sub 1170 C=0.7487 G=0.2513 SAMN07486024
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1000Genomes_30x American Sub 980 C=0.833 G=0.167 SAMN07488242
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1000Genomes Global Study-wide 5008 C=0.7933 G=0.2067 PRJEB6930 SAMN07490465
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1000Genomes African Sub 1322 C=0.7806 G=0.2194 SAMN07486022
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1000Genomes East Asian Sub 1008 C=0.7520 G=0.2480 SAMN07486024
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1000Genomes Europe Sub 1006 C=0.8479 G=0.1521 SAMN07488239
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1000Genomes South Asian Sub 978 C=0.764 G=0.236 SAMN07486027
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1000Genomes American Sub 694 C=0.840 G=0.160 SAMN07488242
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Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.8596 G=0.1404 PRJNA489787
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The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.8490 G=0.1510 PRJEB7217
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UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.8498 G=0.1502 PRJEB7218
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KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.7901 G=0.2099 PRJNA589833
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Korean Genome Project KOREAN Study-wide 1832 C=0.8057 G=0.1943 PRJNA609628
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Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.859 G=0.141 PRJEB5829 SAMN13000132
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Northern Sweden ACPOP Study-wide 600 C=0.885 G=0.115 PPRJNA503394 SAMN10359154
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Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.833 G=0.167 PRJEB8705 SAMN13001620
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Qatari Global Study-wide 216 C=0.847 G=0.153 PRJNA288297 SAMN13019808
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SGDP_PRJ Global Study-wide 196 C=0.413 G=0.587 PRJNA586841
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HapMap Global Study-wide 114 C=1.000 G=0.000 PRJNA60817 SAMN10820145
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HapMap American Sub 114 C=1.000 G=0.000 SAMN10821182
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The Danish reference pan genome Danish Study-wide 40 C=0.85 G=0.15 PRJEB7725 SAMN13003120
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Siberian Global Study-wide 16 C=0.50 G=0.50 PRJNA267856 SAMN13113809
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