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: rs1114167891
rs1114167891
OGT
2 0.925 X 71555312 missense variant G/C snv 0.800 1.000 1 2017 2017
dbSNP: rs1131692155
rs1131692155
OGT
1 1.000 X 71555223 missense variant G/T snv 0.800 0
dbSNP: rs943295842
rs943295842
OGT
1 1.000 X 71544561 splice region variant T/C;G snv 0.700 0