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: rs80338711
rs80338711
1 1.000 X 2953163 missense variant C/A;G snv 1.3E-04 0.800 1.000 3 1995 2003
dbSNP: rs80338713
rs80338713
1 1.000 X 2935160 missense variant G/A snv 1.1E-05 0.800 1.000 3 1995 2003
dbSNP: rs122460152
rs122460152
1 1.000 X 2953224 missense variant C/T snv 0.700 0
dbSNP: rs122460153
rs122460153
1 1.000 X 2953241 missense variant C/G;T snv 0.700 0
dbSNP: rs122460154
rs122460154
1 1.000 X 2949425 missense variant C/G snv 0.700 0
dbSNP: rs122460155
rs122460155
1 1.000 X 2935127 missense variant C/T snv 0.700 0
dbSNP: rs145946864
rs145946864
1 1.000 X 2953236 missense variant G/A snv 5.5E-06 9.4E-06 0.700 0
dbSNP: rs201424543
rs201424543
1 1.000 X 2938195 missense variant C/G;T snv 5.4E-04 0.700 0
dbSNP: rs28935474
rs28935474
1 1.000 X 2934870 missense variant G/A snv 5.7E-06 0.700 0
dbSNP: rs80338710
rs80338710
1 1.000 X 2958340 missense variant A/C snv 5.5E-06 0.700 0
dbSNP: rs80338714
rs80338714
1 1.000 X 2934859 stop gained C/T snv 5.7E-06 2.9E-05 0.700 0