rs398123425, ATRX

N. diseases: 9
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.
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
32 0.776 0.320 X 77688876 missense variant T/C snv 0.700 0
Aplasia Cutis Congenita
CUI: C0282160
Disease: Aplasia Cutis Congenita
14 0.776 0.320 X 77688876 missense variant T/C snv 0.700 0
Brachydactyly
CUI: C0221357
Disease: Brachydactyly
43 0.776 0.320 X 77688876 missense variant T/C snv 0.700 0
Congenital pectus carinatum
CUI: C0158731
Disease: Congenital pectus carinatum
26 0.776 0.320 X 77688876 missense variant T/C snv 0.700 0
Flatfoot
CUI: C0016202
Disease: Flatfoot
38 0.776 0.320 X 77688876 missense variant T/C snv 0.700 0
Flexion contracture
CUI: C0333068
Disease: Flexion contracture
32 0.776 0.320 X 77688876 missense variant T/C snv 0.700 0
Juberg-Marsidi syndrome
CUI: C0796003
Disease: Juberg-Marsidi syndrome
14 0.776 0.320 X 77688876 missense variant T/C snv 0.700 0
Ulnar polydactyly of fingers
CUI: C0431904
Disease: Ulnar polydactyly of fingers
11 0.776 0.320 X 77688876 missense variant T/C snv 0.700 0
Valgus deformities of feet
CUI: C1578482
Disease: Valgus deformities of feet
7 0.776 0.320 X 77688876 missense variant T/C snv 0.700 0