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rs312262761

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs312262761(A;A)
Make rs312262761(A;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position44592406
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262761
ebirs312262761
HLIrs312262761
Exacrs312262761
Varsomers312262761
Maprs312262761
PheGenIrs312262761
hapmaprs312262761
1000 genomesrs312262761
hgdprs312262761
ensemblrs312262761
gopubmedrs312262761
geneviewrs312262761
scholarrs312262761
googlers312262761
pharmgkbrs312262761
gwascentralrs312262761
openSNPrs312262761
23andMers312262761
23andMe allrs312262761
SNP Nexus

SNPshotrs312262761
SNPdbers312262761
MSV3drs312262761
GWAS Ctlgrs312262761
Max Magnitude0
ClinVar
Risk rs312262761(A;A)
Alt rs312262761(A;A)
Reference rs312262761(T;T)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44884604A>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000034219.2,


[PMID 18835492] Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum.