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: rs104894409
rs104894409
GJB2
6 0.827 0.120 13 20189332 missense variant C/A;G;T snv 1.6E-05; 3.6E-05; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs139805921
rs139805921
TMPRSS3
2 1.000 0.120 21 42388935 missense variant G/A snv 2.1E-04 1.0E-04 0.010 1.000 1 2017 2017
dbSNP: rs181949335
rs181949335
TMPRSS3
3 0.925 0.120 21 42382101 missense variant C/T snv 1.4E-04 1.9E-04 0.010 1.000 1 2017 2017