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rs312262743

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs312262743(C;C)
Make rs312262743(C;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position44622219
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262743
ebirs312262743
HLIrs312262743
Exacrs312262743
Varsomers312262743
Maprs312262743
PheGenIrs312262743
hapmaprs312262743
1000 genomesrs312262743
hgdprs312262743
ensemblrs312262743
gopubmedrs312262743
geneviewrs312262743
scholarrs312262743
googlers312262743
pharmgkbrs312262743
gwascentralrs312262743
openSNPrs312262743
23andMers312262743
23andMe allrs312262743
SNP Nexus

SNPshotrs312262743
SNPdbers312262743
MSV3drs312262743
GWAS Ctlgrs312262743
Max Magnitude0
ClinVar
Risk rs312262743(A,C;A,C)
Alt rs312262743(A,C;A,C)
Reference rs312262743(G;G)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44914417C>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000034191.2,


[PMID 19105190] Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.