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rs312262785

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs312262785(C;T)
Make rs312262785(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position44565997
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262785
ebirs312262785
HLIrs312262785
Exacrs312262785
Varsomers312262785
Maprs312262785
PheGenIrs312262785
hapmaprs312262785
1000 genomesrs312262785
hgdprs312262785
ensemblrs312262785
gopubmedrs312262785
geneviewrs312262785
scholarrs312262785
googlers312262785
pharmgkbrs312262785
gwascentralrs312262785
openSNPrs312262785
23andMers312262785
23andMe allrs312262785
SNP Nexus

SNPshotrs312262785
SNPdbers312262785
MSV3drs312262785
GWAS Ctlgrs312262785
Max Magnitude0
ClinVar
Risk rs312262785(T;T)
Alt rs312262785(T;T)
Reference rs312262785(C;C)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44858195G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000034254.2, RCV000239393.1,


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