rs122445108, ATRX

N. diseases: 7
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 0.807 0.320 X 77717155 stop gained G/A snv 0.700 1.000 1 2000 2000
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
32 0.807 0.320 X 77717155 stop gained G/A snv 0.700 0
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
98 0.807 0.320 X 77717155 stop gained G/A snv 0.700 0
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
CUI: C4016452
Disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
8 0.807 0.320 X 77717155 stop gained G/A snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.807 0.320 X 77717155 stop gained G/A snv 0.700 0
alpha-Thalassemia
CUI: C0002312
Disease: alpha-Thalassemia
37 0.807 0.320 X 77717155 stop gained G/A snv 0.010 1.000 1 2015 2015
alpha^+^ Thalassemia
CUI: C1456873
Disease: alpha^+^ Thalassemia
16 0.807 0.320 X 77717155 stop gained G/A snv 0.010 1.000 1 2015 2015