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rs2292954

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common on affy axiom data
Make rs2292954(C;C)
Make rs2292954(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position89546715
GeneSPG7
is asnp
is mentioned by
dbSNPrs2292954
ebirs2292954
HLIrs2292954
Exacrs2292954
Varsomers2292954
Maprs2292954
PheGenIrs2292954
hapmaprs2292954
1000 genomesrs2292954
hgdprs2292954
ensemblrs2292954
gopubmedrs2292954
geneviewrs2292954
scholarrs2292954
googlers2292954
pharmgkbrs2292954
gwascentralrs2292954
openSNPrs2292954
23andMers2292954
23andMe allrs2292954
SNP Nexus

SNPshotrs2292954
SNPdbers2292954
MSV3drs2292954
GWAS Ctlgrs2292954
GMAF0.1189
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene SPG7
allele G
frequency 0.15
sift TOLERATED
HuRef 1103645552728
Disease Association Defects in SPG7 are the cause of spastic paraplegia-7 (SPG7) (MIM:607259). SPG7 is a form of autosomal recessive hereditary spastic paraplegia (AR-HSP). HSP is a group of inherited degenerative spinal cord disorders characterized by a slow, gradual, progressive weakness and spasticity (stiffness) of the legs. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Rate of progression and the severity of symptoms are quite variable.




GET Evidence
SPG7-T503A
aa_change Thr503Ala
aa_change_short T503A
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.14222
summary



ClinVar
Risk rs2292954(C;C)
Alt rs2292954(C;C)
Reference rs2292954(T;T)
Significance Probable-non-pathogenic
Disease not specified
Variation info
Gene RPL13 SPG7
CLNDBN not specified
Reversed 1
HGVS NC_000016.9:g.89613123A>G
CLNSRC ClinVar University of Chicago
CLNACC RCV000118409.2,