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: rs104894232
rs104894232 		0.925 0.160 11 125900000 missense variant A/G snv 1.1E-03 1.0E-03
CUI: C1856016
Disease: HYDROLETHALUS SYNDROME 1
HYDROLETHALUS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 1 2005 2005
dbSNP: rs104894232
rs104894232 		0.925 0.160 11 125900000 missense variant A/G snv 1.1E-03 1.0E-03
CUI: C2931104
Disease: Hydrolethalus syndrome
Hydrolethalus syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.710 1.000 5 1990 2016
dbSNP: rs200876642
rs200876642 		1.000 11 125895671 missense variant C/T snv 2.0E-05 1.4E-05
CUI: C4310745
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55 		0.700 0
dbSNP: rs576405108
rs576405108 		1.000 11 125895590 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C4310745
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55 		0.700 0
dbSNP: rs753229591
rs753229591 		1.000 11 125894049 frameshift variant AG/- delins
CUI: C4310745
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55 		0.700 0
dbSNP: rs774005569
rs774005569 		1.000 11 125893928 stop gained G/A snv 1.2E-05
CUI: C4310745
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55 		0.700 0
dbSNP: rs104894232
rs104894232 		0.925 0.160 11 125900000 missense variant A/G snv 1.1E-03 1.0E-03
CUI: C0302142
Disease: Deformity
Deformity 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2016 2016
dbSNP: rs104894232
rs104894232 		0.925 0.160 11 125900000 missense variant A/G snv 1.1E-03 1.0E-03
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2016 2016