Source: ALL
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: rs121912475
rs121912475
KRT5
1 1.000 0.080 12 52519160 missense variant C/A;T snv 0.800 1.000 7 1993 2011
dbSNP: rs57599352
rs57599352
KRT5
1 1.000 0.080 12 52516688 missense variant A/G snv 0.800 1.000 7 1993 2011
dbSNP: rs58163069
rs58163069
KRT5
1 1.000 0.080 12 52519778 missense variant C/G snv 0.800 0
dbSNP: rs59629244
rs59629244
KRT14
1 1.000 0.080 17 41583358 missense variant A/G snv 0.800 0
dbSNP: rs61371557
rs61371557
KRT14
1 1.000 0.080 17 41583872 missense variant A/C;G snv 0.800 0
dbSNP: rs59110575
rs59110575
KRT14
2 0.925 0.080 17 41586471 missense variant G/A snv 0.700 1.000 8 1991 2006
dbSNP: rs61326242
rs61326242
KRT14
1 1.000 0.080 17 41586407 missense variant A/G snv 1.6E-05 0.700 1.000 8 1991 2006
dbSNP: rs57751134
rs57751134
KRT5
1 1.000 0.080 12 52519144 missense variant T/G snv 0.700 1.000 7 1993 2011
dbSNP: rs59840738
rs59840738
KRT5
1 1.000 0.080 12 52517714 missense variant A/G snv 0.700 1.000 7 1993 2011
dbSNP: rs1057515580
rs1057515580
KLHL24
3 0.925 0.080 3 183650358 start lost T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs886037956
rs886037956
KLHL24
3 0.925 0.080 3 183650357 start lost A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs886037957
rs886037957
KLHL24
3 0.925 0.080 3 183650359 start lost G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121912474
rs121912474
KRT5
1 1.000 0.080 12 52520277 missense variant A/G;T snv 0.700 0
dbSNP: rs147611635
rs147611635
KRT14
1 1.000 0.080 17 41584282 missense variant G/T snv 1.2E-04 4.2E-04 0.700 0
dbSNP: rs1555156076
rs1555156076
KRT5
1 1.000 0.080 12 52516682 missense variant A/C snv 0.700 0
dbSNP: rs58072617
rs58072617
KRT5
7 0.790 0.120 12 52517702 missense variant A/G;T snv 0.700 0
dbSNP: rs58107458
rs58107458
KRT5
1 1.000 0.080 12 52517708 missense variant A/G snv 0.700 0
dbSNP: rs58380626
rs58380626
KRT14
2 0.925 0.080 17 41583266 missense variant A/G snv 0.700 0
dbSNP: rs58608695
rs58608695
KRT5
1 1.000 0.080 12 52515165 missense variant C/T snv 0.700 0
dbSNP: rs59780231
rs59780231
KRT14
2 0.925 0.080 17 41583272 missense variant C/G;T snv 2.1E-02 0.700 0
dbSNP: rs59851104
rs59851104
KRT5
2 0.925 0.080 12 52519869 missense variant A/G;T snv 0.700 0
dbSNP: rs61027685
rs61027685
KRT14
3 0.882 0.080 17 41586438 missense variant C/A;G;T snv 0.700 0
dbSNP: rs61263401
rs61263401
KRT14
2 0.925 0.080 17 41586480 missense variant T/C snv 0.700 0
dbSNP: rs61540016
rs61540016
KRT14
1 1.000 0.080 17 41586434 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs58330629
rs58330629
KRT14
4 0.851 0.120 17 41586461 missense variant C/A;G;T snv 0.010 1.000 1 2015 2015