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rs312262730

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs312262730(-;-)
Make rs312262730(-;TT)
ReferenceGRCh38 38.1/141
Chromosome15
Position44648917
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262730
ebirs312262730
HLIrs312262730
Exacrs312262730
Varsomers312262730
Maprs312262730
PheGenIrs312262730
hapmaprs312262730
1000 genomesrs312262730
hgdprs312262730
ensemblrs312262730
gopubmedrs312262730
geneviewrs312262730
scholarrs312262730
googlers312262730
pharmgkbrs312262730
gwascentralrs312262730
openSNPrs312262730
23andMers312262730
23andMe allrs312262730
SNP Nexus

SNPshotrs312262730
SNPdbers312262730
MSV3drs312262730
GWAS Ctlgrs312262730
Max Magnitude0
ClinVar
Risk rs312262730(;)
Alt rs312262730(;)
Reference rs312262730(TT;TT)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44941115_44941116delAA
CLNSRC ClinVar GeneReviews
CLNACC RCV000034176.2,


[PMID 18663179] SPG11 compound mutations in spastic paraparesis with thin corpus callosum.