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: rs104893961
rs104893961
GJA1
1 1.000 0.160 6 121446897 missense variant A/C snv 0.810 1.000 2 2005 2006
dbSNP: rs1554200992
rs1554200992
GJA1
2 0.925 0.160 6 121446966 missense variant C/T snv 0.810 1.000 2 2006 2019
dbSNP: rs1554201043
rs1554201043
GJA1
1 1.000 0.160 6 121447493 missense variant G/T snv 0.810 1.000 2 2006 2015
dbSNP: rs267606845
rs267606845
GJA1
1 1.000 0.160 6 121447073 missense variant C/A snv 0.810 1.000 2 2004 2006
dbSNP: rs104893962
rs104893962
GJA1
1 1.000 0.160 6 121446899 missense variant T/C snv 0.800 1.000 1 2006 2006
dbSNP: rs104893963
rs104893963
GJA1
1 1.000 0.160 6 121446908 missense variant G/A snv 0.800 1.000 1 2006 2006
dbSNP: rs104893966
rs104893966
GJA1
2 0.925 0.160 6 121447428 missense variant A/C snv 0.800 1.000 1 2006 2006
dbSNP: rs121912969
rs121912969
GJA1
1 1.000 0.160 6 121446879 missense variant T/C snv 0.800 1.000 1 2006 2006
dbSNP: rs28931601
rs28931601
GJA1
1 1.000 0.160 6 121447133 missense variant G/A snv 0.800 1.000 1 2006 2006
dbSNP: rs397518464
rs397518464
GJA1
1 1.000 0.160 6 121447464 missense variant A/G snv 0.800 1.000 1 2006 2006
dbSNP: rs962041031
rs962041031
GJA1
1 1.000 0.160 6 121447290 missense variant G/A snv 7.0E-06 0.800 0
dbSNP: rs104893964
rs104893964
GJA1
1 1.000 0.160 6 121446912 missense variant G/A snv 0.700 1.000 1 2006 2006
dbSNP: rs1554201011
rs1554201011
GJA1
1 1.000 0.160 6 121447153 missense variant G/C snv 0.700 1.000 1 2006 2006
dbSNP: rs1554201017
rs1554201017
GJA1
2 0.925 0.160 6 121447236 missense variant T/C snv 0.700 1.000 1 2006 2006
dbSNP: rs1057518872
rs1057518872
GJA1
5 0.882 0.160 6 121447287 missense variant T/C snv 0.700 0
dbSNP: rs387906616
rs387906616
GJA1
1 1.000 0.160 6 121446878 missense variant C/T snv 0.700 0
dbSNP: rs750294638
rs750294638
GJA1
1 1.000 0.160 6 121447452 missense variant G/A snv 0.700 0
dbSNP: rs104894410
rs104894410
GJB2
6 0.807 0.320 13 20189407 missense variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs121912970
rs121912970
GJA1
2 0.925 0.160 6 121446944 stop gained C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs267606844
rs267606844
GJA1
3 0.882 0.160 6 121447074 missense variant G/A snv 8.0E-06 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs745666312
rs745666312
GJA4 ; SMIM12 ; LOC105378642
1 1.000 0.160 1 34794440 missense variant G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs945084245
rs945084245
TGFB1
1 1.000 0.160 19 41352864 missense variant T/C;G snv 0.010 1.000 1 2011 2011