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: rs750281602
rs750281602
1 1.000 8 22419626 missense variant C/G;T snv 8.0E-06 0.800 1.000 1 2016 2016
dbSNP: rs879253763
rs879253763
1 1.000 8 22408331 missense variant T/G snv 0.800 1.000 1 2016 2016
dbSNP: rs879253766
rs879253766
1 1.000 8 22416280 missense variant G/A snv 0.800 1.000 1 2016 2016
dbSNP: rs1039778197
rs1039778197
1 1.000 8 22415760 non coding transcript exon variant C/G;T snv 7.0E-06 0.700 0
dbSNP: rs1554519011
rs1554519011
1 1.000 8 22408406 stop gained C/T snv 0.700 0
dbSNP: rs1554519303
rs1554519303
1 1.000 8 22410000 missense variant G/A snv 0.700 0
dbSNP: rs879253764
rs879253764
1 1.000 8 22408352 stop gained G/A;T snv 0.700 0
dbSNP: rs879253765
rs879253765
1 1.000 8 22409965 frameshift variant CA/- del 0.700 0