82 lines
5.3 KiB
Text
82 lines
5.3 KiB
Text
#URL https://www.ncbi.nlm.nih.gov/snp/rs5110/download/frequency
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#NCBI Reference SNP (rs) Report ALPHA rs5110
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#Current Build 156
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#Released October 16, 2022
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#Organism Homo sapiens
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#Position chr11:116820918 (GRCh38.p14)
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#Alleles C>A / C>G
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#Variation Type SNV (Single Nucleotide Variation)
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#Publications 9 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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Allele Frequency Aggregator Total Global 298060 C=0.929383 A=0.070617, G=0.000000 PRJNA507278 SAMN10492705
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Allele Frequency Aggregator European Sub 252866 C=0.923564 A=0.076436, G=0.000000 SAMN10492695
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Allele Frequency Aggregator Other Sub 21464 C=0.94148 A=0.05852, G=0.00000 SAMN11605645
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Allele Frequency Aggregator African Sub 8586 C=0.9867 A=0.0133, G=0.0000 SAMN10492703
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Allele Frequency Aggregator Asian Sub 6850 C=0.9996 A=0.0004, G=0.0000 SAMN10492704
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Allele Frequency Aggregator Latin American 2 Sub 6554 C=0.9583 A=0.0417, G=0.0000 SAMN10492700
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Allele Frequency Aggregator Latin American 1 Sub 1380 C=0.9543 A=0.0457, G=0.0000 SAMN10492699
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Allele Frequency Aggregator South Asian Sub 360 C=0.969 A=0.031, G=0.000 SAMN10492702
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gnomAD - Exomes Global Study-wide 251086 C=0.947715 A=0.052285 PRJNA398795 SAMN07488253
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gnomAD - Exomes European Sub 135134 C=0.925911 A=0.074089 SAMN10181265
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gnomAD - Exomes Asian Sub 48994 C=0.98818 A=0.01182
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gnomAD - Exomes American Sub 34526 C=0.96394 A=0.03606 SAMN07488255
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gnomAD - Exomes African Sub 16234 C=0.98571 A=0.01429 SAMN07488254
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gnomAD - Exomes Ashkenazi Jewish Sub 10070 C=0.93347 A=0.06653 SAMN07488252
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gnomAD - Exomes Other Sub 6128 C=0.9364 A=0.0636 SAMN07488248
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gnomAD - Genomes Global Study-wide 140256 C=0.946733 A=0.053267 PRJNA398795 SAMN07488253
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gnomAD - Genomes European Sub 75932 C=0.92402 A=0.07598 SAMN10181265
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gnomAD - Genomes African Sub 42052 C=0.98362 A=0.01638 SAMN07488254
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gnomAD - Genomes American Sub 13664 C=0.94943 A=0.05057 SAMN07488255
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gnomAD - Genomes Ashkenazi Jewish Sub 3320 C=0.9373 A=0.0627 SAMN07488252
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gnomAD - Genomes East Asian Sub 3134 C=0.9997 A=0.0003 SAMN07488251
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gnomAD - Genomes Other Sub 2154 C=0.9475 A=0.0525 SAMN07488248
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ExAC Global Study-wide 120938 C=0.947560 A=0.052440 PRJEB8661 SAMN07490465
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ExAC Europe Sub 73046 C=0.92551 A=0.07449
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ExAC Asian Sub 25130 C=0.98743 A=0.01257
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ExAC American Sub 11506 C=0.96558 A=0.03442
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ExAC African Sub 10358 C=0.98523 A=0.01477
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ExAC Other Sub 898 C=0.960 A=0.040 SAMN07486028
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The PAGE Study Global Study-wide 78696 C=0.97081 A=0.02919 PRJNA168052 SAMN10868975
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The PAGE Study AfricanAmerican Sub 32512 C=0.98250 A=0.01750 SAMN10868721
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The PAGE Study Mexican Sub 10808 C=0.96151 A=0.03849 SAMN10868735
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The PAGE Study Asian Sub 8318 C=0.9990 A=0.0010 SAMN10868722
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The PAGE Study PuertoRican Sub 7918 C=0.9369 A=0.0631 SAMN10868968
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The PAGE Study NativeHawaiian Sub 4534 C=0.9744 A=0.0256 SAMN10868777
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The PAGE Study Cuban Sub 4230 C=0.9319 A=0.0681 SAMN10868733
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The PAGE Study Dominican Sub 3828 C=0.9624 A=0.0376 SAMN10868734
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The PAGE Study CentralAmerican Sub 2450 C=0.9694 A=0.0306 SAMN10868729
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The PAGE Study SouthAmerican Sub 1982 C=0.9622 A=0.0378 SAMN10868969
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The PAGE Study NativeAmerican Sub 1260 C=0.9278 A=0.0722 SAMN10868739
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The PAGE Study SouthAsian Sub 856 C=0.982 A=0.018 SAMN10868970
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1000Genomes_30x Global Study-wide 6404 C=0.9760 A=0.0240 PRJEB31736 SAMN07490465
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1000Genomes_30x African Sub 1786 C=0.9966 A=0.0034 SAMN07486022
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1000Genomes_30x Europe Sub 1266 C=0.9313 A=0.0687 SAMN07488239
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1000Genomes_30x South Asian Sub 1202 C=0.9817 A=0.0183 SAMN07486027
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1000Genomes_30x East Asian Sub 1170 C=1.0000 A=0.0000 SAMN07486024
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1000Genomes_30x American Sub 980 C=0.960 A=0.040 SAMN07488242
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1000Genomes Global Study-wide 5008 C=0.9762 A=0.0238 PRJEB6930 SAMN07490465
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1000Genomes African Sub 1322 C=0.9962 A=0.0038 SAMN07486022
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1000Genomes East Asian Sub 1008 C=1.0000 A=0.0000 SAMN07486024
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1000Genomes Europe Sub 1006 C=0.9344 A=0.0656 SAMN07488239
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1000Genomes South Asian Sub 978 C=0.981 A=0.019 SAMN07486027
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1000Genomes American Sub 694 C=0.958 A=0.042 SAMN07488242
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The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9056 A=0.0944 PRJEB7217
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UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9124 A=0.0876 PRJEB7218
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HapMap Global Study-wide 1306 C=0.9663 A=0.0337 PRJNA60817 SAMN10820145
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HapMap American Sub 588 C=0.954 A=0.046 SAMN10821182
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HapMap African Sub 300 C=0.993 A=0.007 SAMN10821181
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HapMap Asian Sub 250 C=0.988 A=0.012 SAMN10821184
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HapMap Europe Sub 168 C=0.929 A=0.071 SAMN10821183
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PharmGKB Aggregated Global Study-wide 1228 C=0.9511 A=0.0489 PRJNA60817 SAMN13103781
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PharmGKB Aggregated PA135098035 Sub 944 C=0.947 A=0.053 SAMN13095167
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PharmGKB Aggregated PA130071968 Sub 144 C=0.965 A=0.035 SAMN13093759
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PharmGKB Aggregated PA151931549 Sub 140 C=0.964 A=0.036 SAMN13102915
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Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.912 A=0.088 PRJEB5829 SAMN13000132
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Northern Sweden ACPOP Study-wide 600 C=0.903 A=0.097 PPRJNA503394 SAMN10359154
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Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.925 A=0.075 PRJEB8705 SAMN13001620
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The Danish reference pan genome Danish Study-wide 40 C=0.90 A=0.10 PRJEB7725 SAMN13003120
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SGDP_PRJ Global Study-wide 22 C=0.50 A=0.50 PRJNA586841
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Siberian Global Study-wide 4 C=0.5 A=0.5 PRJNA267856 SAMN13113809
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