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rs312262765

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGAT;AGAT) 0 common in clinvar
Make rs312262765(AGAT;TGGAGGAG)
Make rs312262765(TGGAGGAG;TGGAGGAG)
ReferenceGRCh38 38.1/141
Chromosome15
Position44584278
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262765
ebirs312262765
HLIrs312262765
Exacrs312262765
Varsomers312262765
Maprs312262765
PheGenIrs312262765
hapmaprs312262765
1000 genomesrs312262765
hgdprs312262765
ensemblrs312262765
gopubmedrs312262765
geneviewrs312262765
scholarrs312262765
googlers312262765
pharmgkbrs312262765
gwascentralrs312262765
openSNPrs312262765
23andMers312262765
23andMe allrs312262765
SNP Nexus

SNPshotrs312262765
SNPdbers312262765
MSV3drs312262765
GWAS Ctlgrs312262765
Max Magnitude0
ClinVar
Risk rs312262765(TGGAGGAG;TGGAGGAG)
Alt rs312262765(TGGAGGAG;TGGAGGAG)
Reference rs312262765(AGAT;AGAT)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44876476_44876479delATCTinsCTCCTCCA
CLNSRC ClinVar GeneReviews
CLNACC RCV000034223.2,


[PMID 18337587OA-icon.png] SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia.