Source: UNIPROT ×
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: rs397514606
rs397514606
2 0.763 0.320 1 243695714 missense variant C/T snv 0.710 1.000 0 2008 2008