rs122445105, 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.
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 77684520 missense variant G/A snv 0.800 1.000 12 1995 2011
Alpha-Thalassemia Myelodysplasia Syndrome
CUI: C0585216
Disease: Alpha-Thalassemia Myelodysplasia Syndrome
3 0.882 0.240 X 77684520 missense variant G/A snv 0.700 0
Juberg-Marsidi syndrome
CUI: C0796003
Disease: Juberg-Marsidi syndrome
14 0.882 0.240 X 77684520 missense variant G/A snv 0.700 0