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rs1056899

From SNPedia

Orientationminus
Stabilizedminus
Make rs1056899(A;A)
Make rs1056899(A;G)
Make rs1056899(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position132264514
GeneSETX
is asnp
is mentioned by
dbSNPrs1056899
ebirs1056899
HLIrs1056899
Exacrs1056899
Varsomers1056899
Maprs1056899
PheGenIrs1056899
hapmaprs1056899
1000 genomesrs1056899
hgdprs1056899
ensemblrs1056899
gopubmedrs1056899
geneviewrs1056899
scholarrs1056899
googlers1056899
pharmgkbrs1056899
gwascentralrs1056899
openSNPrs1056899
23andMers1056899
23andMe allrs1056899
SNP Nexus

SNPshotrs1056899
SNPdbers1056899
MSV3drs1056899
GWAS Ctlgrs1056899
GMAF0.4908
Max Magnitude
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene SETX
allele C
frequency 0.224
sift
HuRef 1103652196738
Disease Association Defects in ALS4 are a cause of amyotrophic lateral sclerosis 4 (ALS4) (MIM:602433). ALS4 is a rare, childhood- or adolescent-onset, autosomal dominant form of amyotrophic lateral sclerosis that is characterized by slow disease progression, limb weakness, severe muscle wasting, and pyramidal signs associated with degeneration of motor neurons in the brain and spinal cord. Amyotrophic lateral sclerosis denote a heterogeneous group of severe, progressive neurological disorders associated with degeneration of motor neurons in the cerebral cortex, brain stem, and spinal cord. ALS4 includes a long duration of disease, absence of overt sensory abnormalities, and the sparing of bulbar and respiratory muscles.



GET Evidence
SETX-I2587V
aa_change Ile2587Val
aa_change_short I2587V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.450084
summary



ClinVar
Risk rs1056899(G;G)
Alt rs1056899(G;G)
Reference rs1056899(A;A)
Significance Other
Disease not specified
Variation info
Gene SETX
CLNDBN not specified
Reversed 1
HGVS NC_000009.11:g.135139901T>C
CLNSRC ClinVar Emory University University of Chicago
CLNACC RCV000081702.7,