Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs483352804
rs483352804
EDA
0.925 0.080 X 70035389 missense variant G/A;T snv
CUI: C0000846
Disease: Agenesis
Agenesis
0.010 1.000 1 2014 2014