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: rs1554310600
rs1554310600
1 1.000 7 12231904 missense variant G/A snv 0.800 1.000 2 2017 2018