Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs57695159
rs57695159
1.000 0.080 12 52679867 missense variant A/G snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
0.800 1.000 12 1992 2011
dbSNP: rs57837128
rs57837128
0.882 0.120 12 52676314 missense variant A/G snv
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis
0.800 1.000 2 1999 1999
dbSNP: rs57959072
rs57959072
1.000 0.080 12 52679885 missense variant A/C;T snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
0.800 0
dbSNP: rs57977969
rs57977969
1.000 0.080 12 52680128 missense variant T/A snv
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC
0.800 0
dbSNP: rs58420087
rs58420087
1.000 0.080 12 52676305 missense variant T/C snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
0.800 0
dbSNP: rs59429455
rs59429455
1.000 0.080 12 52679785 missense variant G/T snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
0.800 0
dbSNP: rs61218439
rs61218439
1.000 0.080 12 52676315 missense variant T/A;C snv 8.0E-06
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis
0.800 0
dbSNP: rs57837128
rs57837128
0.882 0.120 12 52676314 missense variant A/G snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
0.710 1.000 12 1992 2012
dbSNP: rs267607430
rs267607430
1.000 0.080 12 52676296 missense variant A/G snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
0.700 1.000 12 1992 2011
dbSNP: rs58062863
rs58062863
1.000 0.080 12 52677425 missense variant T/A;C snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
0.700 1.000 12 1992 2011
dbSNP: rs58928370
rs58928370
1.000 0.080 12 52679786 missense variant T/C;G snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
0.700 1.000 12 1992 2011
dbSNP: rs59089201
rs59089201
1.000 0.080 12 52676318 missense variant C/G;T snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
0.700 1.000 12 1992 2011
dbSNP: rs56914602
rs56914602
1.000 0.080 12 52676293 missense variant A/C;G snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
0.700 0
dbSNP: rs60022878
rs60022878
1.000 0.080 12 52679793 missense variant A/G snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
0.700 0
dbSNP: rs60279707
rs60279707
1.000 0.080 12 52676282 missense variant C/G;T snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
0.700 0
dbSNP: rs60937700
rs60937700
1.000 0.080 12 52679772 missense variant A/G;T snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
0.700 0
dbSNP: rs61549035
rs61549035
1.000 0.080 12 52678707 missense variant A/G snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
0.700 0