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: rs63750197
rs63750197
2 0.925 0.120 1 226885570 missense variant C/T snv 6.8E-04 7.2E-04 0.800 1.000 1 2006 2006