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rs149003934

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs149003934(C;T)
Make rs149003934(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position44573595
GeneSPG11
is asnp
is mentioned by
dbSNPrs149003934
ebirs149003934
HLIrs149003934
Exacrs149003934
Varsomers149003934
Maprs149003934
PheGenIrs149003934
hapmaprs149003934
1000 genomesrs149003934
hgdprs149003934
ensemblrs149003934
gopubmedrs149003934
geneviewrs149003934
scholarrs149003934
googlers149003934
pharmgkbrs149003934
gwascentralrs149003934
openSNPrs149003934
23andMers149003934
23andMe allrs149003934
SNP Nexus

SNPshotrs149003934
SNPdbers149003934
MSV3drs149003934
GWAS Ctlgrs149003934
Max Magnitude0
ClinVar
Risk rs149003934(T;T)
Alt rs149003934(T;T)
Reference rs149003934(C;C)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 0
HGVS NC_000015.9:g.44865793C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000034242.2,


[PMID 19196735] Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum.