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: rs132630312
rs132630312
EDA
6 0.807 0.120 X 69957093 missense variant C/T snv 1.9E-05 0.010 1.000 1 2016 2016
dbSNP: rs132630317
rs132630317
EDA
5 0.827 0.080 X 70035478 missense variant G/A;T snv 0.010 1.000 1 2005 2005