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: rs118203984
rs118203984 		0.925 0.160 6 24528049 missense variant G/A snv 2.8E-05 7.0E-06
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.800 1.000 5 2001 2017
dbSNP: rs765561257
rs765561257 		1.000 0.120 6 24495274 missense variant G/A;T snv 3.9E-05
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.800 1.000 4 2001 2013
dbSNP: rs375628463
rs375628463 		1.000 0.120 6 24515243 missense variant G/A snv 8.7E-05 8.4E-05
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.800 1.000 3 2001 2013
dbSNP: rs778127154
rs778127154 		1.000 0.120 6 24515259 frameshift variant T/- del 5.6E-05
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 6 1994 2016
dbSNP: rs778127154
rs778127154 		1.000 0.120 6 24515259 frameshift variant T/- del 5.6E-05
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 6 1994 2016
dbSNP: rs778127154
rs778127154 		1.000 0.120 6 24515259 frameshift variant T/- del 5.6E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 6 1994 2016
dbSNP: rs118203982
rs118203982 		1.000 0.120 6 24504871 stop gained G/A snv 4.8E-05 7.0E-05
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 3 2001 2019
dbSNP: rs145087265
rs145087265 		1.000 0.120 6 24515204 missense variant A/G snv 2.8E-05 6.4E-05
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 3 2001 2003
dbSNP: rs72552281
rs72552281 		1.000 0.120 6 24503350 missense variant G/A snv 2.1E-05
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 3 2001 2003
dbSNP: rs72552282
rs72552282 		1.000 0.120 6 24504927 missense variant G/A snv
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 3 2001 2003
dbSNP: rs72552283
rs72552283 		1.000 0.120 6 24520535 missense variant C/A snv 8.0E-06
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 3 2001 2003
dbSNP: rs72552284
rs72552284 		1.000 0.120 6 24533701 missense variant G/A;C snv 2.4E-05
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.700 1.000 3 2001 2003
dbSNP: rs116417499
rs116417499 		1.000 0.040 6 24523528 intron variant G/A;T snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs150674717
rs150674717 		6 24512970 intron variant G/A snv 2.0E-04
CUI: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement 		0.700 1.000 1 2018 2018
dbSNP: rs118203983
rs118203983 		1.000 0.120 6 24528057 stop gained C/T snv 3.2E-05 3.5E-05
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.700 0
dbSNP: rs1301821497
rs1301821497 		1.000 0.120 6 24504867 splice acceptor variant A/G snv 4.0E-06 7.0E-06
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.700 0
dbSNP: rs1326526453
rs1326526453 		1.000 0.120 6 24504957 missense variant C/T snv 7.0E-06
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.700 0
dbSNP: rs1561865665
rs1561865665 		1.000 0.120 6 24495100 stop gained CCGGGCCTGCGCCCGGCCCGGCCC/- del
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.700 0
dbSNP: rs1561872640
rs1561872640 		1.000 0.120 6 24511869 splice donor variant G/A snv
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.700 0
dbSNP: rs1561879380
rs1561879380 		1.000 0.120 6 24528167 splice donor variant G/A;T snv
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.700 0
dbSNP: rs778127154
rs778127154 		1.000 0.120 6 24515259 frameshift variant T/- del 5.6E-05
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.700 0
dbSNP: rs875989801
rs875989801 		1.000 0.120 6 24528167 splice donor variant GTA/TT delins
CUI: C0268631
Disease: succinic semialdehyde dehydrogenase deficiency
succinic semialdehyde dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders 0.700 0
dbSNP: rs118203984
rs118203984 		0.925 0.160 6 24528049 missense variant G/A snv 2.8E-05 7.0E-06
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2019 2019