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: rs59730172
rs59730172
KRT5
1 1.000 0.080 12 52517695 missense variant G/A;T snv 3.2E-05 0.800 0
dbSNP: rs61297109
rs61297109
KRT5
1 1.000 0.080 12 52517691 missense variant G/A;C;T snv 4.0E-06 0.800 0
dbSNP: rs58766676
rs58766676
KRT5
2 0.925 0.080 12 52519120 missense variant T/A;C;G snv 0.720 1.000 2 2004 2010
dbSNP: rs267607457
rs267607457
KRT5
1 1.000 0.080 12 52519159 missense variant A/T snv 0.700 1.000 15 1993 2011
dbSNP: rs267607458
rs267607458
KRT5
1 1.000 0.080 12 52516794 missense variant C/T snv 4.0E-06 0.700 1.000 15 1993 2011
dbSNP: rs56790237
rs56790237
KRT5
1 1.000 0.080 12 52517700 missense variant C/G snv 0.700 1.000 15 1993 2011
dbSNP: rs57142010
rs57142010
KRT5
2 0.925 0.080 12 52517699 missense variant T/A;C snv 0.700 1.000 15 1993 2011
dbSNP: rs57378129
rs57378129
KRT5
1 1.000 0.080 12 52519798 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.700 1.000 15 1993 2011
dbSNP: rs57845028
rs57845028
KRT5
1 1.000 0.080 12 52516763 missense variant G/T snv 0.700 1.000 15 1993 2011
dbSNP: rs58976397
rs58976397
KRT5
1 1.000 0.080 12 52519148 missense variant C/T snv 0.700 1.000 15 1993 2011
dbSNP: rs59112594
rs59112594
KRT5
1 1.000 0.080 12 52517628 missense variant G/A;T snv 3.6E-05 0.700 1.000 15 1993 2011
dbSNP: rs59864957
rs59864957
KRT5
1 1.000 0.080 12 52517750 missense variant A/C;G snv 4.0E-06 0.700 1.000 15 1993 2011
dbSNP: rs61222761
rs61222761
KRT5
2 0.925 0.080 12 52519824 missense variant T/A snv 0.700 1.000 15 1993 2011
dbSNP: rs57200223
rs57200223
KRT14
1 1.000 0.080 17 41583287 missense variant G/A;T snv 1.6E-05 0.700 1.000 13 1993 2006
dbSNP: rs58378809
rs58378809
KRT14
1 1.000 0.080 17 41586393 missense variant G/A;C snv 4.0E-06 0.700 1.000 13 1993 2006
dbSNP: rs58560979
rs58560979
KRT14
1 1.000 0.080 17 41583879 missense variant C/T snv 0.700 1.000 13 1993 2006
dbSNP: rs58762773
rs58762773
KRT14
3 0.882 0.080 17 41583245 missense variant C/G;T snv 4.0E-06 0.700 1.000 13 1993 2006
dbSNP: rs58785777
rs58785777
KRT14
1 1.000 0.080 17 41583866 missense variant G/T snv 0.700 1.000 13 1993 2006
dbSNP: rs59271739
rs59271739
KRT14
1 1.000 0.080 17 41586487 missense variant C/G;T snv 4.0E-06 0.700 1.000 13 1993 2006
dbSNP: rs59442925
rs59442925
KRT14
1 1.000 0.080 17 41583265 missense variant T/C snv 0.700 1.000 13 1993 2006
dbSNP: rs762236241
rs762236241
GALK1 ; ITGB4
3 0.882 0.080 17 75757312 splice donor variant T/C snv 2.0E-05 0.700 1.000 2 1999 2002
dbSNP: rs56729325
rs56729325
KRT5
1 1.000 0.080 12 52517690 missense variant C/T snv 0.700 0
dbSNP: rs56974573
rs56974573
KRT14
1 1.000 0.080 17 41583384 inframe deletion CCT/- delins 0.700 0
dbSNP: rs57358989
rs57358989
KRT14
2 0.925 0.080 17 41586478 missense variant C/T snv 0.700 0
dbSNP: rs58058996
rs58058996
KRT5
1 1.000 0.080 12 52519815 missense variant A/C;T snv 0.700 0