rs132630312, EDA

N. diseases: 6
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.
Christ-Siemens-Touraine syndrome
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
78 0.807 0.120 X 69957093 missense variant C/T snv 1.9E-05 0.700 1.000 12 1998 2016
Tooth Agenesis, Selective, X-Linked, 1
CUI: C1970757
Disease: Tooth Agenesis, Selective, X-Linked, 1
9 0.807 0.120 X 69957093 missense variant C/T snv 1.9E-05 0.700 0
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
CUI: C3888065
Disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
11 0.807 0.120 X 69957093 missense variant C/T snv 1.9E-05 0.010 1.000 1 2016 2016
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
CUI: C3887494
Disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
35 0.807 0.120 X 69957093 missense variant C/T snv 1.9E-05 0.010 1.000 1 2016 2016
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
CUI: C3541517
Disease: ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
10 0.807 0.120 X 69957093 missense variant C/T snv 1.9E-05 0.010 1.000 1 2016 2016
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
CUI: C3539920
Disease: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
7 0.807 0.120 X 69957093 missense variant C/T snv 1.9E-05 0.010 1.000 1 2016 2016