Rs760126124 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 15150 G=0.99993 A=0.00007 0.999868 0.0 0.000132 0
European Sub 11424 G=0.99991 A=0.00009 0.999825 0.0 0.000175 0
African Sub 2294 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
African Others Sub 84 G=1.00 A=0.00 1.0 0.0 0.0 N/A
African American Sub 2210 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 G=1.000 A=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 G=1.00 A=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 G=1.00 A=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 G=1.000 A=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 G=1.000 A=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 G=1.00 A=0.00 1.0 0.0 0.0 N/A
Other Sub 474 G=1.000 A=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 - Exomes Global Study-wide 180746 G=0.999939 A=0.000061
gnomAD - Exomes European Sub 95761 G=0.99989 A=0.00011
gnomAD - Exomes Asian Sub 32657 G=1.00000 A=0.00000
gnomAD - Exomes American Sub 27340 G=1.00000 A=0.00000
gnomAD - Exomes African Sub 13150 G=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 7356 G=1.0000 A=0.0000
gnomAD - Exomes Other Sub 4482 G=1.0000 A=0.0000
ExAC Global Study-wide 84742 G=0.99998 A=0.00002
ExAC Europe Sub 51395 G=0.99996 A=0.00004
ExAC Asian Sub 15140 G=1.00000 A=0.00000
ExAC American Sub 9179 G=1.0000 A=0.0000
ExAC African Sub 8418 G=1.0000 A=0.0000
ExAC Other Sub 610 G=1.000 A=0.000
Allele Frequency Aggregator Total Global 15150 G=0.99993 A=0.00007
Allele Frequency Aggregator European Sub 11424 G=0.99991 A=0.00009
Allele Frequency Aggregator African Sub 2294 G=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 A=0.000
Allele Frequency Aggregator Other Sub 474 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 108 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 94 G=1.00 A=0.00

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