Gene: SMN1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893930
rs104893930
SMN1 ; SMN2
0.800 GeneticVariation UNIPROT Clinical utility gene card for: proximal spinal muscular atrophy. 22510849

2012
dbSNP: rs104893935
rs104893935
SMN1 ; SMN2
0.800 GeneticVariation UNIPROT Clinical utility gene card for: proximal spinal muscular atrophy. 22510849

2012
dbSNP: rs104893930
rs104893930
SMN1 ; SMN2
0.800 GeneticVariation UNIPROT HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects. 21088113

2011
dbSNP: rs104893935
rs104893935
SMN1 ; SMN2
0.800 GeneticVariation UNIPROT HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects. 21088113

2011
dbSNP: rs104893930
rs104893930
SMN1 ; SMN2
0.800 GeneticVariation UNIPROT Consensus statement for standard of care in spinal muscular atrophy. 17761659

2007
dbSNP: rs104893935
rs104893935
SMN1 ; SMN2
0.800 GeneticVariation UNIPROT Consensus statement for standard of care in spinal muscular atrophy. 17761659

2007
dbSNP: rs104893930
rs104893930
SMN1 ; SMN2
0.800 GeneticVariation UNIPROT Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress. 14715275

2004
dbSNP: rs104893935
rs104893935
SMN1 ; SMN2
0.800 GeneticVariation UNIPROT Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress. 14715275

2004
dbSNP: rs104893930
rs104893930
SMN1 ; SMN2
0.800 GeneticVariation UNIPROT Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. 9837824

1998
dbSNP: rs104893930
rs104893930
SMN1 ; SMN2
0.800 GeneticVariation UNIPROT Identification of a novel missense mutation of the SMN(T) gene in two siblings with spinal muscular atrophy. 10732802

1998
dbSNP: rs104893935
rs104893935
SMN1 ; SMN2
0.800 GeneticVariation UNIPROT Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. 9837824

1998
dbSNP: rs104893935
rs104893935
SMN1 ; SMN2
0.800 GeneticVariation UNIPROT Identification of a novel missense mutation of the SMN(T) gene in two siblings with spinal muscular atrophy. 10732802

1998
dbSNP: rs104893930
rs104893930
SMN1 ; SMN2
0.800 GeneticVariation UNIPROT Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA). 9158159

1997
dbSNP: rs104893935
rs104893935
SMN1 ; SMN2
0.800 GeneticVariation UNIPROT Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA). 9158159

1997
dbSNP: rs104893930
rs104893930
SMN1 ; SMN2
A 0.800 CausalMutation CLINVAR

dbSNP: rs104893935
rs104893935
SMN1 ; SMN2
G 0.800 CausalMutation CLINVAR

dbSNP: rs1561498701
rs1561498701
SMN1 ; SMN2
AGGATTCCG 0.700 CausalMutation CLINVAR A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA. 24498607

2013
dbSNP: rs77969175
rs77969175
SMN1 ; SMN2
0.700 GeneticVariation UNIPROT HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects. 21088113

2011
dbSNP: rs77969175
rs77969175
SMN1 ; SMN2
0.700 GeneticVariation UNIPROT Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress. 14715275

2004
dbSNP: rs77969175
rs77969175
SMN1 ; SMN2
0.700 GeneticVariation UNIPROT Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. 9837824

1998
dbSNP: rs77969175
rs77969175
SMN1 ; SMN2
0.700 GeneticVariation UNIPROT Identification of a novel missense mutation of the SMN(T) gene in two siblings with spinal muscular atrophy. 10732802

1998
dbSNP: rs77969175
rs77969175
SMN1 ; SMN2
0.700 GeneticVariation UNIPROT Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA). 9158159

1997
dbSNP: rs1554066397
rs1554066397
SMN1 ; SMN2
G 0.700 CausalMutation CLINVAR

dbSNP: rs1554066666
rs1554066666
SMN1 ; SMN2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1554082110
rs1554082110
SMN1 ; SMN2
A 0.700 CausalMutation CLINVAR