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: rs121912968
rs121912968
GJB2
5 0.827 0.280 13 20189364 missense variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs28928895
rs28928895
KRT16
3 0.882 0.120 17 41612306 missense variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs57499817
rs57499817
KRT5
6 0.807 0.160 12 52520223 missense variant G/A snv 0.010 1.000 1 2010 2010