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: 20231103111315
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
TopMed Global Study-wide 264690 C=0.999951 T=0.000049
gnomAD - Exomes Global Study-wide 251316 C=0.999956 T=0.000044
gnomAD - Exomes European Sub 135314 C=0.999956 T=0.000044
gnomAD - Exomes Asian Sub 48988 C=1.00000 T=0.00000
gnomAD - Exomes American Sub 34560 C=0.99986 T=0.00014
gnomAD - Exomes African Sub 16246 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10072 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6136 C=1.0000 T=0.0000
gnomAD - Genomes Global Study-wide 140198 C=0.999979 T=0.000021
gnomAD - Genomes European Sub 75928 C=0.99997 T=0.00003
gnomAD - Genomes African Sub 42026 C=1.00000 T=0.00000
gnomAD - Genomes American Sub 13636 C=0.99993 T=0.00007
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3134 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2152 C=1.0000 T=0.0000
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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