SMN1, survival of motor neuron 1, telomeric, 6606

N. diseases: 317; N. variants: 30
Disease: 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: rs141760116
rs141760116 		0.925 0.080 5 70951939 splice acceptor variant A/C;G;T snv 4.0E-06
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		Nervous System Diseases 0.700 1.000 3 2008 2015
dbSNP: rs1561503058
rs1561503058 		1.000 0.040 5 70951920 splice acceptor variant CTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT/- del
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		Nervous System Diseases 0.700 1.000 3 2000 2008
dbSNP: rs1217001154
rs1217001154 		1.000 0.040 5 70951940 splice acceptor variant G/A snv 4.0E-06
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		Nervous System Diseases 0.700 1.000 1 2010 2010
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: rs1554082383
rs1554082383 		1.000 0.040 5 70951956 frameshift variant -/A delins
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		Nervous System Diseases 0.700 0
dbSNP: rs104893922
rs104893922 		0.925 0.080 5 70946157 missense variant A/G snv
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		Nervous System Diseases 0.040 1.000 4 1997 2002
dbSNP: rs79784540
rs79784540 		0.925 0.080 5 70944713 stop gained T/A snv
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		Nervous System Diseases 0.020 1.000 2 2013 2016
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: rs1472645065
rs1472645065 		1.000 0.040 5 70951968 missense variant A/G snv 7.0E-06
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		Nervous System Diseases 0.010 1.000 1 2010 2010
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