rs122445112, ATRX

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.
Juberg-Marsidi syndrome
CUI: C0796003
Disease: Juberg-Marsidi syndrome
14 0.925 0.200 X 77523290 missense variant T/C snv 5.5E-06 0.700 1.000 6 1996 2005
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
CUI: C4016452
Disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
8 0.925 0.200 X 77523290 missense variant T/C snv 5.5E-06 0.700 0