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: rs747068278
rs747068278
1 1.000 0.120 2 70212730 missense variant C/T snv 3.6E-05 2.1E-05 0.810 1.000 5 1999 2017