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: rs104894347
rs104894347
3 0.925 0.200 12 4370572 missense variant C/T snv 7.0E-06 0.010 1.000 1 2014 2014