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rs312262736

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs312262736(-;-)
Make rs312262736(-;GT)
ReferenceGRCh38 38.1/141
Chromosome15
Position44629278
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262736
ebirs312262736
HLIrs312262736
Exacrs312262736
Varsomers312262736
Maprs312262736
PheGenIrs312262736
hapmaprs312262736
1000 genomesrs312262736
hgdprs312262736
ensemblrs312262736
gopubmedrs312262736
geneviewrs312262736
scholarrs312262736
googlers312262736
pharmgkbrs312262736
gwascentralrs312262736
openSNPrs312262736
23andMers312262736
23andMe allrs312262736
SNP Nexus

SNPshotrs312262736
SNPdbers312262736
MSV3drs312262736
GWAS Ctlgrs312262736
Max Magnitude0
ClinVar
Risk rs312262736(;)
Alt rs312262736(;)
Reference rs312262736(GT;GT)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44921476_44921477delAC
CLNSRC ClinVar GeneReviews
CLNACC RCV000034184.2,


[PMID 18067136] Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.