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: rs121918399
rs121918399
2 0.925 0.120 19 44907843 missense variant C/T snv 8.0E-06 0.820 1.000 5 1997 2014