Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121434341
rs121434341
CHD7
10 0.807 0.360 8 60855993 missense variant C/A;T snv 0.810 1.000 16 2004 2015
dbSNP: rs121434338
rs121434338
CHD7
2 0.925 0.080 8 60822627 missense variant A/G snv 0.800 1.000 19 2004 2015
dbSNP: rs121434339
rs121434339
CHD7
1 1.000 0.080 8 60830569 missense variant T/G snv 0.800 1.000 15 2004 2015
dbSNP: rs121434343
rs121434343
CHD7
2 0.925 0.080 8 60853047 missense variant G/A snv 0.800 1.000 15 2004 2015
dbSNP: rs587783451
rs587783451
CHD7
1 1.000 0.080 8 60853012 missense variant A/G snv 0.800 1.000 15 2004 2015
dbSNP: rs864309609
rs864309609
CHD7
1 1.000 0.080 8 60836175 missense variant T/C snv 0.800 1.000 13 2004 2015
dbSNP: rs886040988
rs886040988
CHD7
3 1.000 0.080 8 60830422 missense variant T/A snv 0.800 1.000 13 2004 2015
dbSNP: rs200806228
rs200806228
CHD7
2 0.925 0.080 8 60853500 missense variant G/A snv 2.0E-04 1.5E-04 0.700 1.000 15 2004 2015
dbSNP: rs201083157
rs201083157
CHD7
1 1.000 0.080 8 60852975 missense variant A/G snv 6.4E-05 2.9E-04 0.700 1.000 15 2004 2015
dbSNP: rs201423234
rs201423234
CHD7
1 1.000 0.080 8 60852201 missense variant G/A snv 2.3E-04 2.2E-04 0.700 1.000 15 2004 2015
dbSNP: rs370194460
rs370194460
CHD7
1 1.000 0.080 8 60821916 missense variant A/G snv 1.4E-04 2.1E-05 0.700 1.000 15 2004 2015
dbSNP: rs373301291
rs373301291
CHD7
1 1.000 0.080 8 60836243 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 4.0E-05 0.700 1.000 15 2004 2015
dbSNP: rs768481542
rs768481542
CHD7
1 1.000 0.080 8 60822028 missense variant G/A snv 7.6E-05 4.2E-05 0.700 1.000 15 2004 2015
dbSNP: rs779024959
rs779024959
CHD7
1 1.000 0.080 8 60741727 missense variant G/A;C snv 4.8E-05; 3.2E-05 0.700 1.000 15 2004 2015
dbSNP: rs886040993
rs886040993
CHD7
1 1.000 0.080 8 60842051 missense variant G/A snv 0.700 1.000 15 2004 2015
dbSNP: rs1165711448
rs1165711448
CHD7
1 1.000 0.080 8 60821842 missense variant C/T snv 0.700 1.000 13 2004 2015
dbSNP: rs1197494895
rs1197494895
CHD7
1 1.000 0.080 8 60852919 missense variant G/A snv 7.0E-06 0.700 1.000 13 2004 2015
dbSNP: rs1554602465
rs1554602465
CHD7
4 0.882 0.080 8 60845063 missense variant G/A snv 0.700 1.000 13 2004 2015
dbSNP: rs200898742
rs200898742
CHD7
1 1.000 0.080 8 60742144 missense variant G/A;C snv 3.4E-04; 4.0E-06 0.700 1.000 13 2004 2015
dbSNP: rs201319489
rs201319489
CHD7
1 1.000 0.080 8 60862623 missense variant C/T snv 1.3E-03 3.4E-04 0.700 1.000 13 2004 2015
dbSNP: rs370231679
rs370231679
CHD7
1 1.000 0.080 8 60865136 missense variant G/A snv 1.6E-05 2.8E-05 0.700 1.000 13 2004 2015
dbSNP: rs370271088
rs370271088
CHD7
1 1.000 0.080 8 60865730 missense variant G/A snv 1.0E-04 7.7E-05 0.700 1.000 13 2004 2015
dbSNP: rs541818422
rs541818422
CHD7
1 1.000 0.080 8 60856135 missense variant T/A;C;G snv 4.2E-06; 4.2E-06; 8.4E-06 0.700 1.000 13 2004 2015
dbSNP: rs547209998
rs547209998
CHD7
1 1.000 0.080 8 60856765 missense variant G/C;T snv 4.0E-06; 2.8E-04 0.700 1.000 13 2004 2015
dbSNP: rs756365280
rs756365280
CHD7
1 1.000 0.080 8 60795071 missense variant G/A;C snv 2.4E-05; 6.4E-05 0.700 1.000 13 2004 2015