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: rs121918552
rs121918552
2 1.000 0.040 7 25123996 missense variant C/T snv 0.710 1.000 2 2014 2019