SMN1, survival of motor neuron 1, telomeric, 6606

N. diseases: 317; N. variants: 30
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: rs1554066397
rs1554066397 		0.925 0.080 5 70925108 missense variant C/G;T snv
CUI: C0152109
Disease: Juvenile Spinal Muscular Atrophy
Juvenile Spinal Muscular Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 1998 1998
dbSNP: rs1554066397
rs1554066397 		0.925 0.080 5 70925108 missense variant C/G;T snv
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 1998 1998
dbSNP: rs1554066397
rs1554066397 		0.925 0.080 5 70925108 missense variant C/G;T snv
CUI: C0333641
Disease: Atrophic
Atrophic 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 1998 1998
dbSNP: rs1554066397
rs1554066397 		0.925 0.080 5 70925108 missense variant C/G;T snv
CUI: C4732793
Disease: Polyminimyoclonus
Polyminimyoclonus 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1554066397
rs1554066397 		0.925 0.080 5 70925108 missense variant C/G;T snv
CUI: C0393538
Disease: Muscular Atrophy, Spinal, Type II
Muscular Atrophy, Spinal, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1554066397
rs1554066397 		0.925 0.080 5 70925108 missense variant C/G;T snv
CUI: C0234146
Disease: Absent reflex
Absent reflex 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1554066397
rs1554066397 		0.925 0.080 5 70925108 missense variant C/G;T snv
CUI: C0750403
Disease: Proximal weakness
Proximal weakness 		0.700 0
dbSNP: rs1561498701
rs1561498701 		1.000 0.080 5 70925150 frameshift variant -/GGATTCCG delins
CUI: C0234146
Disease: Absent reflex
Absent reflex 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1561498701
rs1561498701 		1.000 0.080 5 70925150 frameshift variant -/GGATTCCG delins
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1561498701
rs1561498701 		1.000 0.080 5 70925150 frameshift variant -/GGATTCCG delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1561498701
rs1561498701 		1.000 0.080 5 70925150 frameshift variant -/GGATTCCG delins
CUI: C0239548
Disease: Fasciculation, Tongue
Fasciculation, Tongue 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1561498701
rs1561498701 		1.000 0.080 5 70925150 frameshift variant -/GGATTCCG delins
CUI: C0393538
Disease: Muscular Atrophy, Spinal, Type II
Muscular Atrophy, Spinal, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1170466474
rs1170466474 		1.000 0.040 5 70925180 missense variant G/A snv 8.2E-05
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		Nervous System Diseases 0.700 0
dbSNP: rs1170466474
rs1170466474 		1.000 0.040 5 70925180 missense variant G/A snv 8.2E-05
CUI: C0239548
Disease: Fasciculation, Tongue
Fasciculation, Tongue 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1170466474
rs1170466474 		1.000 0.040 5 70925180 missense variant G/A snv 8.2E-05
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104893930
rs104893930 		1.000 0.080 5 70938845 missense variant G/A snv
CUI: C0393538
Disease: Muscular Atrophy, Spinal, Type II
Muscular Atrophy, Spinal, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 7 1997 2012
dbSNP: rs104893931
rs104893931 		1.000 0.080 5 70938888 missense variant A/T snv
CUI: C0152109
Disease: Juvenile Spinal Muscular Atrophy
Juvenile Spinal Muscular Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 5 1997 2007
dbSNP: rs104893927
rs104893927 		1.000 0.080 5 70942367 missense variant G/C snv
CUI: C0152109
Disease: Juvenile Spinal Muscular Atrophy
Juvenile Spinal Muscular Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 5 1997 2007
dbSNP: rs77804083
rs77804083 		0.882 0.080 5 70942389 stop gained G/A snv
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		Nervous System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs77804083
rs77804083 		0.882 0.080 5 70942389 stop gained G/A snv
CUI: C0152109
Disease: Juvenile Spinal Muscular Atrophy
Juvenile Spinal Muscular Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs77804083
rs77804083 		0.882 0.080 5 70942389 stop gained G/A snv
CUI: C0393538
Disease: Muscular Atrophy, Spinal, Type II
Muscular Atrophy, Spinal, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs104893935
rs104893935 		0.882 0.080 5 70942416 missense variant C/G snv
CUI: C0393538
Disease: Muscular Atrophy, Spinal, Type II
Muscular Atrophy, Spinal, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 7 1997 2012
dbSNP: rs104893935
rs104893935 		0.882 0.080 5 70942416 missense variant C/G snv
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs104893935
rs104893935 		0.882 0.080 5 70942416 missense variant C/G snv
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
HMN (Hereditary Motor Neuropathy) Proximal Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs104893933
rs104893933 		1.000 0.080 5 70942430 missense variant A/T snv
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
HMN (Hereditary Motor Neuropathy) Proximal Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 11 1995 2016