rs121912476, KRT5

N. diseases: 2
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 1.000 12 52516824 missense variant C/T snv 1.2E-05 1.4E-05 0.800 1.000 1 2002 2002
Stuttering
CUI: C0038506
Disease: Stuttering
8 1.000 12 52516824 missense variant C/T snv 1.2E-05 1.4E-05 0.010 1 2002 2002