Rs6839787 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 81420 C=0.02243 T=0.97757 0.000467 0.955613 0.04392 0
European Sub 52180 C=0.02986 T=0.97014 0.000652 0.940935 0.058413 1
African Sub 19358 C=0.00579 T=0.99421 0.0 0.988429 0.011571 0
African Others Sub 854 C=0.004 T=0.996 0.0 0.992974 0.007026 0
African American Sub 18504 C=0.00589 T=0.99411 0.0 0.988219 0.011781 0
Asian Sub 520 C=0.008 T=0.992 0.0 0.984615 0.015385 0
East Asian Sub 188 C=0.005 T=0.995 0.0 0.989362 0.010638 0
Other Asian Sub 332 C=0.009 T=0.991 0.0 0.981928 0.018072 0
Latin American 1 Sub 1522 C=0.0302 T=0.9698 0.0 0.939553 0.060447 0
Latin American 2 Sub 2018 C=0.0159 T=0.9841 0.0 0.968285 0.031715 0
South Asian Sub 2414 C=0.0112 T=0.9888 0.000829 0.978459 0.020713 3
Other Sub 3408 C=0.0138 T=0.9862 0.000587 0.973005 0.026408 1
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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 v4 - Genomes Global Study-wide 149158 C=0.020368 T=0.979632
gnomAD v4 - Genomes European Sub 78608 C=0.02778 T=0.97222
gnomAD v4 - Genomes African Sub 41504 C=0.00634 T=0.99366
gnomAD v4 - Genomes American Sub 15294 C=0.03191 T=0.96809
gnomAD v4 - Genomes East Asian Sub 5170 C=0.0000 T=1.0000
gnomAD v4 - Genomes South Asian Sub 4816 C=0.0091 T=0.9909
gnomAD v4 - Genomes Ashkenazi Jewish Sub 3472 C=0.0127 T=0.9873
gnomAD v4 - Genomes Middle Eastern sub 294 C=0.051 T=0.949
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
38KJPN JAPANESE Study-wide 77444 C=0.00001 T=0.99999
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
Korean Genome Project 4K KOREAN Study-wide 7234 C=0.0000 T=1.0000
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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