rs122445099, ATRX

N. diseases: 6
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
32 0.827 0.400 X 77520832 stop gained G/A snv 0.700 0
Ambiguous Genitalia
CUI: C0266362
Disease: Ambiguous Genitalia
14 0.827 0.400 X 77520832 stop gained G/A snv 0.700 0
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
80 0.827 0.400 X 77520832 stop gained G/A snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.827 0.400 X 77520832 stop gained G/A snv 0.700 0
Osteosarcoma
CUI: C0029463
Disease: Osteosarcoma
178 0.827 0.400 X 77520832 stop gained G/A snv 0.700 0
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 0.827 0.400 X 77520832 stop gained G/A snv 0.700 0