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rs312262753

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs312262753(G;T)
Make rs312262753(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position44610839
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262753
ebirs312262753
HLIrs312262753
Exacrs312262753
Varsomers312262753
Maprs312262753
PheGenIrs312262753
hapmaprs312262753
1000 genomesrs312262753
hgdprs312262753
ensemblrs312262753
gopubmedrs312262753
geneviewrs312262753
scholarrs312262753
googlers312262753
pharmgkbrs312262753
gwascentralrs312262753
openSNPrs312262753
23andMers312262753
23andMe allrs312262753
SNP Nexus

SNPshotrs312262753
SNPdbers312262753
MSV3drs312262753
GWAS Ctlgrs312262753
Max Magnitude0
ClinVar
Risk rs312262753(T;T)
Alt rs312262753(T;T)
Reference rs312262753(G;G)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44903037C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000034205.2,


[PMID 19513778] Novel compound heterozygous mutations of the SPG11 gene in Korean families with hereditary spastic paraplegia with thin corpus callosum.