Rs6839787 RefSNP Report - DbSNP - NCBI

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 21260 C=0.02437 T=0.97563 0.000564 0.951834 0.047601 0
European Sub 16038 C=0.02862 T=0.97138 0.000748 0.943509 0.055743 0
African Sub 3380 C=0.0068 T=0.9932 0.0 0.986391 0.013609 0
African Others Sub 114 C=0.000 T=1.000 0.0 1.0 0.0 N/A
African American Sub 3266 C=0.0070 T=0.9930 0.0 0.985915 0.014085 0
Asian Sub 146 C=0.007 T=0.993 0.0 0.986301 0.013699 0
East Asian Sub 120 C=0.008 T=0.992 0.0 0.983333 0.016667 0
Other Asian Sub 26 C=0.00 T=1.00 0.0 1.0 0.0 N/A
Latin American 1 Sub 146 C=0.027 T=0.973 0.0 0.945205 0.054795 0
Latin American 2 Sub 610 C=0.021 T=0.979 0.0 0.957377 0.042623 0
South Asian Sub 104 C=0.000 T=1.000 0.0 1.0 0.0 N/A
Other Sub 836 C=0.022 T=0.978 0.0 0.956938 0.043062 0
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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=0.021678 T=0.978322
gnomAD - Genomes Global Study-wide 140146 C=0.020950 T=0.979050
gnomAD - Genomes European Sub 75910 C=0.02798 T=0.97202
gnomAD - Genomes African Sub 41982 C=0.00662 T=0.99338
gnomAD - Genomes American Sub 13652 C=0.03157 T=0.96843
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=0.0132 T=0.9868
gnomAD - Genomes East Asian Sub 3130 C=0.0000 T=1.0000
gnomAD - Genomes Other Sub 2148 C=0.0275 T=0.9725
The PAGE Study Global Study-wide 78698 C=0.01361 T=0.98639
The PAGE Study AfricanAmerican Sub 32514 C=0.00667 T=0.99333
The PAGE Study Mexican Sub 10810 C=0.01665 T=0.98335
The PAGE Study Asian Sub 8318 C=0.0002 T=0.9998
The PAGE Study PuertoRican Sub 7918 C=0.0469 T=0.9531
The PAGE Study NativeHawaiian Sub 4532 C=0.0093 T=0.9907
The PAGE Study Cuban Sub 4230 C=0.0255 T=0.9745
The PAGE Study Dominican Sub 3828 C=0.0136 T=0.9864
The PAGE Study CentralAmerican Sub 2450 C=0.0155 T=0.9845
The PAGE Study SouthAmerican Sub 1982 C=0.0146 T=0.9854
The PAGE Study NativeAmerican Sub 1260 C=0.0238 T=0.9762
The PAGE Study SouthAsian Sub 856 C=0.002 T=0.998
14KJPN JAPANESE Study-wide 28258 C=0.00007 T=0.99993
Allele Frequency Aggregator Total Global 21260 C=0.02437 T=0.97563
Allele Frequency Aggregator European Sub 16038 C=0.02862 T=0.97138
Allele Frequency Aggregator African Sub 3380 C=0.0068 T=0.9932
Allele Frequency Aggregator Other Sub 836 C=0.022 T=0.978
Allele Frequency Aggregator Latin American 2 Sub 610 C=0.021 T=0.979
Allele Frequency Aggregator Latin American 1 Sub 146 C=0.027 T=0.973
Allele Frequency Aggregator Asian Sub 146 C=0.007 T=0.993
Allele Frequency Aggregator South Asian Sub 104 C=0.000 T=1.000
8.3KJPN JAPANESE Study-wide 16760 C=0.00012 T=0.99988
1000Genomes_30x Global Study-wide 6404 C=0.0148 T=0.9852
1000Genomes_30x African Sub 1786 C=0.0039 T=0.9961
1000Genomes_30x Europe Sub 1266 C=0.0292 T=0.9708
1000Genomes_30x South Asian Sub 1202 C=0.0058 T=0.9942
1000Genomes_30x East Asian Sub 1170 C=0.0000 T=1.0000
1000Genomes_30x American Sub 980 C=0.045 T=0.955
1000Genomes Global Study-wide 5008 C=0.0152 T=0.9848
1000Genomes African Sub 1322 C=0.0053 T=0.9947
1000Genomes East Asian Sub 1008 C=0.0000 T=1.0000
1000Genomes Europe Sub 1006 C=0.0318 T=0.9682
1000Genomes South Asian Sub 978 C=0.006 T=0.994
1000Genomes American Sub 694 C=0.045 T=0.955
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.0281 T=0.9719
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.0291 T=0.9709
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.0348 T=0.9652
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.0000 A=0.0000, G=0.0000, T=1.0000
Korean Genome Project KOREAN Study-wide 1832 C=0.0000 T=1.0000
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.030 T=0.970
SGDP_PRJ Global Study-wide 558 C=0.009 T=0.991
Qatari Global Study-wide 216 C=0.023 T=0.977
Siberian Global Study-wide 56 C=0.00 T=1.00
The Danish reference pan genome Danish Study-wide 40 C=0.03 T=0.97

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