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: rs200928781
rs200928781
1 0.752 0.240 22 28695800 missense variant T/A;C;G snv 2.4E-05 0.810 1.000 8 2002 2018