Rs369803910 RefSNP Report - DbSNP - NCBI

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ALFA Allele Frequency The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20250407153717
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 14050 C=0.99993 T=0.00007 0.999858 0.0 0.000142 0
European Sub 9690 C=0.9999 T=0.0001 0.999794 0.0 0.000206 0
African Sub 2898 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 C=1.000 T=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 C=1.000 T=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 C=1.000 T=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 C=1.000 T=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Sub 496 C=1.000 T=0.000 1.0 0.0 0.0 N/A
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Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study Population Group Sample Size Ref Allele Alt Allele
gnomAD v4 - Exomes Global Study-wide 1401448 C=0.9999836 T=0.0000164
gnomAD v4 - Exomes European Sub 1165398 C=0.9999863 T=0.0000137
gnomAD v4 - Exomes South Asian Sub 86250 C=1.00000 T=0.00000
gnomAD v4 - Exomes American Sub 44718 C=0.99984 T=0.00016
gnomAD v4 - Exomes East Asian Sub 39698 C=1.00000 T=0.00000
gnomAD v4 - Exomes African Sub 33480 C=1.00000 T=0.00000
gnomAD v4 - Exomes Ashkenazi Jewish Sub 26136 C=1.00000 T=0.00000
gnomAD v4 - Exomes Middle Eastern sub 5768 C=1.0000 T=0.0000
TopMed Global Study-wide 264690 C=0.999951 T=0.000049
gnomAD v4 - Genomes Global Study-wide 149142 C=0.999980 T=0.000020
gnomAD v4 - Genomes European Sub 78636 C=0.99997 T=0.00003
gnomAD v4 - Genomes African Sub 41430 C=1.00000 T=0.00000
gnomAD v4 - Genomes American Sub 15260 C=0.99993 T=0.00007
gnomAD v4 - Genomes East Asian Sub 5198 C=1.0000 T=0.0000
gnomAD v4 - Genomes South Asian Sub 4832 C=1.0000 T=0.0000
gnomAD v4 - Genomes Ashkenazi Jewish Sub 3470 C=1.0000 T=0.0000
gnomAD v4 - Genomes Middle Eastern sub 316 C=1.000 T=0.000
ExAC Global Study-wide 120754 C=0.999975 T=0.000025
ExAC Europe Sub 73046 C=0.99997 T=0.00003
ExAC Asian Sub 25006 C=1.00000 T=0.00000
ExAC American Sub 11462 C=0.99991 T=0.00009
ExAC African Sub 10342 C=1.00000 T=0.00000
ExAC Other Sub 898 C=1.000 T=0.000
Allele Frequency Aggregator Total Global 14050 C=0.99993 T=0.00007
Allele Frequency Aggregator European Sub 9690 C=0.9999 T=0.0001
Allele Frequency Aggregator African Sub 2898 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 T=0.000
Allele Frequency Aggregator Other Sub 496 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 T=0.00
GO Exome Sequencing Project Global Study-wide 13006 C=0.99992 T=0.00008
GO Exome Sequencing Project European American Sub 8600 C=0.9999 T=0.0001
GO Exome Sequencing Project African American Sub 4406 C=1.0000 T=0.0000

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