Source: ALL
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: 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
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: rs753267653
rs753267653
1.000 0.080 X 109682851 missense variant G/A snv 2.7E-05 9.5E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1324805
rs1324805
1.000 0.040 X 109719433 intron variant A/G snv 0.45
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1364685385
rs1364685385
1.000 0.080 X 109624828 missense variant G/A snv 9.3E-06
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2019 2019