rs122445110, ATRX

N. diseases: 4
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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.882 0.200 X 77589902 missense variant A/G snv 0.700 1.000 21 1992 2017
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.882 0.200 X 77589902 missense variant A/G snv 0.700 1.000 21 1992 2017
Juberg-Marsidi syndrome
CUI: C0796003
Disease: Juberg-Marsidi syndrome
14 0.882 0.200 X 77589902 missense variant A/G snv 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 0.882 0.200 X 77589902 missense variant A/G snv 0.700 0