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: rs60399023
rs60399023
KRT14
5 0.827 0.200 17 41586462 missense variant G/A;C snv 0.770 1.000 7 2002 2018
dbSNP: rs59190510
rs59190510
KRT5
4 0.851 0.080 12 52516647 stop gained C/A;T snv 0.730 1.000 3 1997 2019
dbSNP: rs57499817
rs57499817
KRT5
6 0.807 0.160 12 52520223 missense variant G/A snv 0.720 1.000 2 2005 2010
dbSNP: rs28928893
rs28928893
KRT14
3 0.882 0.120 17 41586479 missense variant A/G snv 0.710 1.000 1 1998 1998
dbSNP: rs58330629
rs58330629
KRT14
4 0.851 0.120 17 41586461 missense variant C/A;G;T snv 0.710 1.000 1 2015 2015
dbSNP: rs1565593355
rs1565593355
KRT5
1 1.000 0.080 12 52518117 frameshift variant C/- del 0.700 1.000 2 2006 2010
dbSNP: rs60171927
rs60171927
KRT14
2 0.925 0.080 17 41586467 missense variant T/C snv 0.700 0
dbSNP: rs61126080
rs61126080
KRT5
2 0.925 0.120 12 52515066 frameshift variant C/- delins 0.700 0
dbSNP: rs59115483
rs59115483
KRT5
4 0.882 0.080 12 52519789 missense variant C/T snv 2.4E-05 7.0E-06 0.030 1.000 3 2002 2017
dbSNP: rs11170164
rs11170164
KRT5
6 0.827 0.120 12 52519884 missense variant C/T snv 5.7E-02 5.3E-02 0.010 1.000 1 2010 2010
dbSNP: rs267607392
rs267607392
KRT14
1 1.000 0.080 17 41586428 missense variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs267607396
rs267607396
KRT14
1 1.000 0.080 17 41586453 missense variant A/G;T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs267607412
rs267607412
KRT17
2 0.925 0.080 17 41624185 missense variant T/C snv 1.2E-05 1.4E-05 0.010 1.000 1 2004 2004
dbSNP: rs267607435
rs267607435
KRT5
1 1.000 0.080 12 52519123 missense variant G/C snv 0.010 1.000 1 2009 2009
dbSNP: rs56829062
rs56829062
KRT2
2 0.925 0.080 12 52646783 missense variant C/T snv 0.010 1.000 1 1997 1997
dbSNP: rs57121345
rs57121345
KRT14
2 0.925 0.080 17 41586404 missense variant T/G snv 0.010 1.000 1 1993 1993
dbSNP: rs57142010
rs57142010
KRT5
2 0.925 0.080 12 52517699 missense variant T/A;C snv 0.010 1.000 1 2004 2004
dbSNP: rs57348201
rs57348201
KRT5
2 0.925 0.080 12 52516662 stop gained T/A;G snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs58762773
rs58762773
KRT14
3 0.882 0.080 17 41583245 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs58766676
rs58766676
KRT5
2 0.925 0.080 12 52519120 missense variant T/A;C;G snv 0.010 1.000 1 2004 2004
dbSNP: rs59151464
rs59151464
KRT1
2 0.925 0.080 12 52679790 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs59464425
rs59464425
KRT5
2 0.925 0.080 12 52517698 missense variant G/A;T snv 0.010 1.000 1 2000 2000
dbSNP: rs59616921
rs59616921
KRT9
7 0.807 0.120 17 41571506 missense variant G/A snv 0.010 1.000 1 1994 1994
dbSNP: rs59780231
rs59780231
KRT14
2 0.925 0.080 17 41583272 missense variant C/G;T snv 2.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs59851104
rs59851104
KRT5
2 0.925 0.080 12 52519869 missense variant A/G;T snv 0.010 1.000 1 2010 2010