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rs147713329

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs147713329(C;C)
Make rs147713329(C;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position44573661
GeneSPG11
is asnp
is mentioned by
dbSNPrs147713329
ebirs147713329
HLIrs147713329
Exacrs147713329
Varsomers147713329
Maprs147713329
PheGenIrs147713329
hapmaprs147713329
1000 genomesrs147713329
hgdprs147713329
ensemblrs147713329
gopubmedrs147713329
geneviewrs147713329
scholarrs147713329
googlers147713329
pharmgkbrs147713329
gwascentralrs147713329
openSNPrs147713329
23andMers147713329
23andMe allrs147713329
SNP Nexus

SNPshotrs147713329
SNPdbers147713329
MSV3drs147713329
GWAS Ctlgrs147713329
Max Magnitude0
ClinVar
Risk rs147713329(A,C,T;A,C,T)
Alt rs147713329(A,C,T;A,C,T)
Reference rs147713329(G;G)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 0
HGVS NC_000015.9:g.44865859G>A; NC_000015.9:g.44865859G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000034241.2, RCV000205403.1,


[PMID 18408091] Mutations of the SPG11 gene in patients with autosomal recessive spastic paraparesis and thin corpus callosum.


[PMID 19105190] Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.