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rs312262746

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs312262746(A;A)
Make rs312262746(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position44620327
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262746
ebirs312262746
HLIrs312262746
Exacrs312262746
Varsomers312262746
Maprs312262746
PheGenIrs312262746
hapmaprs312262746
1000 genomesrs312262746
hgdprs312262746
ensemblrs312262746
gopubmedrs312262746
geneviewrs312262746
scholarrs312262746
googlers312262746
pharmgkbrs312262746
gwascentralrs312262746
openSNPrs312262746
23andMers312262746
23andMe allrs312262746
SNP Nexus

SNPshotrs312262746
SNPdbers312262746
MSV3drs312262746
GWAS Ctlgrs312262746
Max Magnitude0
ClinVar
Risk rs312262746(A;A)
Alt rs312262746(A;A)
Reference rs312262746(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.44912525C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000034197.2,


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