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: rs397514603
rs397514603
CHM
1 1.000 0.080 X 85879054 missense variant T/C snv 0.810 1.000 3 1994 2011