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: rs201497300
rs201497300
2 0.925 0.160 13 51946337 missense variant C/T snv 4.6E-05 2.8E-05 0.820 1.000 35 1989 2016