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: rs121434591
rs121434591
5 1.000 5 139307669 missense variant C/G snv 0.020 1.000 2 2014 2017