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rs312262758

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs312262758(A;A)
Make rs312262758(A;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position44596899
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262758
ebirs312262758
HLIrs312262758
Exacrs312262758
Varsomers312262758
Maprs312262758
PheGenIrs312262758
hapmaprs312262758
1000 genomesrs312262758
hgdprs312262758
ensemblrs312262758
gopubmedrs312262758
geneviewrs312262758
scholarrs312262758
googlers312262758
pharmgkbrs312262758
gwascentralrs312262758
openSNPrs312262758
23andMers312262758
23andMe allrs312262758
SNP Nexus

SNPshotrs312262758
SNPdbers312262758
MSV3drs312262758
GWAS Ctlgrs312262758
Max Magnitude0
ClinVar
Risk rs312262758(A;A)
Alt rs312262758(A;A)
Reference rs312262758(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.44889097A>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000034214.2,


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