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: rs139912214
rs139912214
1 1 47281003 missense variant C/G snv 2.2E-03 1.9E-03 0.700 0
dbSNP: rs369348360
rs369348360
1 1 47282367 missense variant C/G snv 2.0E-05 2.1E-05 0.700 0