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rs312262756

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TA;TA) 0 common in clinvar
Make rs312262756(-;-)
Make rs312262756(-;TA)
ReferenceGRCh38 38.1/141
Chromosome15
Position44598803
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262756
ebirs312262756
HLIrs312262756
Exacrs312262756
Varsomers312262756
Maprs312262756
PheGenIrs312262756
hapmaprs312262756
1000 genomesrs312262756
hgdprs312262756
ensemblrs312262756
gopubmedrs312262756
geneviewrs312262756
scholarrs312262756
googlers312262756
pharmgkbrs312262756
gwascentralrs312262756
openSNPrs312262756
23andMers312262756
23andMe allrs312262756
SNP Nexus

SNPshotrs312262756
SNPdbers312262756
MSV3drs312262756
GWAS Ctlgrs312262756
Max Magnitude0
ClinVar
Risk rs312262756(;)
Alt rs312262756(;)
Reference rs312262756(TA;TA)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44891001_44891002delTA
CLNSRC ClinVar GeneReviews
CLNACC RCV000034211.2,


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