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: rs121918339
rs121918339
1 1.000 0.120 12 100396373 missense variant C/T snv 0.800 1.000 1 2008 2008