SMN2, survival of motor neuron 2, centromeric, 6607

N. diseases: 299; N. variants: 35
Disease: Juvenile Spinal Muscular Atrophy ×
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: 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: 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: rs104893932
rs104893932 		1.000 0.080 5 70946126 missense variant A/G 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: rs75030631
rs75030631 		0.925 0.080 5 70049690 missense variant C/G snv 5.7E-03
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 4 1997 2004
dbSNP: rs77969175
rs77969175 		0.925 0.080 5 70951941 missense variant G/A;T snv 4.0E-06; 4.0E-06
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 4 1997 2004
dbSNP: rs121909192
rs121909192 		0.925 0.080 5 70076545 missense variant G/C snv 3.3E-03 2.2E-03
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 2009 2009
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: rs1554066659
rs1554066659 		1.000 0.080 5 70946127 missense variant 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 1997 1997
dbSNP: rs1554066666
rs1554066666 		0.925 0.080 5 70946163 missense variant C/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 0
dbSNP: rs1554082110
rs1554082110 		0.851 0.080 5 70946065 splice acceptor variant ATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATATG/- delins
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: rs1561500842
rs1561500842 		1.000 0.080 5 70946064 splice acceptor variant A/G 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: rs397514517
rs397514517 		1.000 0.080 5 70942473 missense variant A/G 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: rs397514518
rs397514518 		1.000 0.080 5 70942472 missense variant T/C 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: rs75586164
rs75586164 		0.925 0.080 5 70070651 missense variant C/T snv 1.3E-04
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: rs77301881
rs77301881 		1.000 0.080 5 70946165 missense variant 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: C0152109
Disease: Juvenile Spinal Muscular Atrophy
Juvenile Spinal Muscular Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs79784540
rs79784540 		0.925 0.080 5 70944713 stop gained T/A snv
CUI: C0152109
Disease: Juvenile Spinal Muscular Atrophy
Juvenile Spinal Muscular Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2013 2013