rs122445101, ATRX

N. diseases: 3
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.
Juberg-Marsidi syndrome
CUI: C0796003
Disease: Juberg-Marsidi syndrome
14 0.882 0.240 X 77558781 missense variant C/T snv 0.800 1.000 6 1996 2005
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
32 0.882 0.240 X 77558781 missense variant C/T snv 0.700 0
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
CUI: C4016452
Disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
8 0.882 0.240 X 77558781 missense variant C/T snv 0.700 0