rs58072617, KRT5

N. diseases: 7
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Dowling-Degos disease 1
CUI: C4552092
Disease: Dowling-Degos disease 1
3 0.790 0.120 12 52517702 missense variant A/G;T snv 0.700 0
Epidermolysis Bullosa Herpetiformis Dowling-Meara
CUI: C0079295
Disease: Epidermolysis Bullosa Herpetiformis Dowling-Meara
29 0.790 0.120 12 52517702 missense variant A/G;T snv 0.700 0
Epidermolysis Bullosa Simplex Kobner
CUI: C0079299
Disease: Epidermolysis Bullosa Simplex Kobner
28 0.790 0.120 12 52517702 missense variant A/G;T snv 0.700 0
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema
CUI: C1836284
Disease: Epidermolysis Bullosa Simplex with Migratory Circinate Erythema
3 0.790 0.120 12 52517702 missense variant A/G;T snv 0.700 0
Epidermolysis bullosa simplex with mottled pigmentation
CUI: C0432316
Disease: Epidermolysis bullosa simplex with mottled pigmentation
3 0.790 0.120 12 52517702 missense variant A/G;T snv 0.700 0
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
CUI: C3715082
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
9 0.790 0.120 12 52517702 missense variant A/G;T snv 0.700 0
Weber-Cockayne Syndrome
CUI: C0080333
Disease: Weber-Cockayne Syndrome
42 0.790 0.120 12 52517702 missense variant A/G;T snv 0.700 0