rs387906493, ARX

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.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
30 0.882 0.120 X 25013544 inframe insertion GGCCGCGGCTGCCGCGGCGGCCCC/-;GGCCGCGGCTGCCGCGGCGGCCCCGGCCGCGGCTGCCGCGGCGGCCCC delins 0.700 1.000 5 2006 2015
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
7 0.882 0.120 X 25013544 inframe insertion GGCCGCGGCTGCCGCGGCGGCCCC/-;GGCCGCGGCTGCCGCGGCGGCCCCGGCCGCGGCTGCCGCGGCGGCCCC delins 0.700 1.000 5 2006 2015
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME
1 0.882 0.120 X 25013544 inframe insertion GGCCGCGGCTGCCGCGGCGGCCCC/-;GGCCGCGGCTGCCGCGGCGGCCCCGGCCGCGGCTGCCGCGGCGGCCCC delins 0.700 0