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rs312262773

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs312262773(C;G)
Make rs312262773(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position44574938
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262773
ebirs312262773
HLIrs312262773
Exacrs312262773
Varsomers312262773
Maprs312262773
PheGenIrs312262773
hapmaprs312262773
1000 genomesrs312262773
hgdprs312262773
ensemblrs312262773
gopubmedrs312262773
geneviewrs312262773
scholarrs312262773
googlers312262773
pharmgkbrs312262773
gwascentralrs312262773
openSNPrs312262773
23andMers312262773
23andMe allrs312262773
SNP Nexus

SNPshotrs312262773
SNPdbers312262773
MSV3drs312262773
GWAS Ctlgrs312262773
Max Magnitude0
ClinVar
Risk rs312262773(G;G)
Alt rs312262773(G;G)
Reference rs312262773(C;C)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44867136G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000034233.2,


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