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: rs28928893
rs28928893
3 0.882 0.120 17 41586479 missense variant A/G snv 0.810 1.000 18 1991 2006
dbSNP: rs57364972
rs57364972
1 1.000 0.080 17 41583253 missense variant A/T snv 0.800 1.000 17 1991 2006
dbSNP: rs57890479
rs57890479
1 1.000 0.080 12 52519774 missense variant G/A snv 0.800 1.000 10 1992 2011
dbSNP: rs60715293
rs60715293
2 0.925 0.080 12 52519756 missense variant A/G snv 0.800 1.000 10 1992 2011
dbSNP: rs61348633
rs61348633
2 0.925 0.080 12 52516652 missense variant T/C snv 0.800 1.000 10 1992 2011
dbSNP: rs59190510
rs59190510
4 0.851 0.080 12 52516647 stop gained C/A;T snv 0.710 1.000 11 1992 2019
dbSNP: rs3826549
rs3826549
1 1.000 0.080 17 41586466 missense variant A/G;T snv 0.64 0.710 1.000 1 2004 2004
dbSNP: rs60399023
rs60399023
5 0.827 0.200 17 41586462 missense variant G/A;C snv 0.710 1.000 1 2004 2004
dbSNP: rs57522245
rs57522245
1 1.000 0.080 17 41586446 missense variant A/G snv 0.700 1.000 17 1991 2006
dbSNP: rs59110575
rs59110575
2 0.925 0.080 17 41586471 missense variant G/A snv 0.700 1.000 17 1991 2006
dbSNP: rs267607456
rs267607456
1 1.000 0.080 12 52519802 missense variant C/A;G snv 0.700 1.000 10 1992 2011
dbSNP: rs57155193
rs57155193
1 1.000 0.080 12 52516653 missense variant C/T snv 0.700 1.000 10 1992 2011
dbSNP: rs57781042
rs57781042
1 1.000 0.080 12 52519761 missense variant A/G snv 0.700 1.000 10 1992 2011
dbSNP: rs59092197
rs59092197
1 1.000 0.080 12 52519770 missense variant T/C snv 0.700 1.000 10 1992 2011
dbSNP: rs60271599
rs60271599
1 1.000 0.080 12 52516676 missense variant A/G snv 0.700 1.000 10 1992 2011
dbSNP: rs60596287
rs60596287
1 1.000 0.080 12 52516671 missense variant T/G snv 0.700 1.000 10 1992 2011
dbSNP: rs60720877
rs60720877
1 1.000 0.080 12 52519791 missense variant C/G;T snv 7.2E-05 0.700 1.000 10 1992 2011
dbSNP: rs58072617
rs58072617
7 0.790 0.120 12 52517702 missense variant A/G;T snv 0.700 0
dbSNP: rs58330629
rs58330629
4 0.851 0.120 17 41586461 missense variant C/A;G;T snv 0.700 0
dbSNP: rs58380626
rs58380626
2 0.925 0.080 17 41583266 missense variant A/G snv 0.700 0
dbSNP: rs58619430
rs58619430
1 1.000 0.080 12 52519795 missense variant C/T snv 0.700 0
dbSNP: rs58762773
rs58762773
3 0.882 0.080 17 41583245 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs60171927
rs60171927
2 0.925 0.080 17 41586467 missense variant T/C snv 0.700 0
dbSNP: rs60470268
rs60470268
2 0.925 0.080 17 41586450 missense variant A/C snv 0.700 0
dbSNP: rs60586163
rs60586163
3 0.882 0.080 12 52519137 missense variant G/A;C;T snv 4.0E-06 0.700 0