Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs122458139
rs122458139
1.000 0.080 X 109674403 missense variant G/A snv
CUI: C1845672
Disease: Mental Retardation, X-Linked 63
Mental Retardation, X-Linked 63
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1569423317
rs1569423317
1.000 0.080 X 109669175 splice acceptor variant T/C snv
CUI: C1845672
Disease: Mental Retardation, X-Linked 63
Mental Retardation, X-Linked 63
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs122458138
rs122458138
1.000 0.080 X 109661643 missense variant G/T snv
CUI: C1845672
Disease: Mental Retardation, X-Linked 63
Mental Retardation, X-Linked 63
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 1 2002 2002