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: rs374514431
rs374514431
2 0.925 0.040 2 69400462 missense variant C/A snv 1.5E-04 1.2E-04 0.010 1.000 1 2020 2020