rs59115483, KRT5

N. diseases: 4
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.
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
CUI: C3715082
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
9 0.882 0.080 12 52519789 missense variant C/T snv 2.4E-05 7.0E-06 0.800 1.000 1 2002 2002
Weber-Cockayne Syndrome
CUI: C0080333
Disease: Weber-Cockayne Syndrome
42 0.882 0.080 12 52519789 missense variant C/T snv 2.4E-05 7.0E-06 0.700 0
Epidermolysis Bullosa Simplex
CUI: C0079298
Disease: Epidermolysis Bullosa Simplex
33 0.882 0.080 12 52519789 missense variant C/T snv 2.4E-05 7.0E-06 0.030 1.000 3 2002 2017
Stuttering
CUI: C0038506
Disease: Stuttering
8 0.882 0.080 12 52519789 missense variant C/T snv 2.4E-05 7.0E-06 0.010 1.000 1 2002 2002