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rs312262789

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs312262789(-;-)
Make rs312262789(-;ATTA)
Make rs312262789(ATTA;ATTA)
ReferenceGRCh38 38.1/141
Chromosome15
Position44564609
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262789
ebirs312262789
HLIrs312262789
Exacrs312262789
Varsomers312262789
Maprs312262789
PheGenIrs312262789
hapmaprs312262789
1000 genomesrs312262789
hgdprs312262789
ensemblrs312262789
gopubmedrs312262789
geneviewrs312262789
scholarrs312262789
googlers312262789
pharmgkbrs312262789
gwascentralrs312262789
openSNPrs312262789
23andMers312262789
23andMe allrs312262789
SNP Nexus

SNPshotrs312262789
SNPdbers312262789
MSV3drs312262789
GWAS Ctlgrs312262789
Max Magnitude0
ClinVar
Risk rs312262789(ATTA;ATTA)
Alt rs312262789(ATTA;ATTA)
Reference rs312262789(;)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44856807_44856808insTAAT
CLNSRC ClinVar GeneReviews
CLNACC RCV000034261.2,


[PMID 18835492] Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum.