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rs312262757

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs312262757(-;-)
Make rs312262757(-;A)
Make rs312262757(A;A)
ReferenceGRCh38 38.1/141
Chromosome15
Position44598781
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262757
ebirs312262757
HLIrs312262757
Exacrs312262757
Varsomers312262757
Maprs312262757
PheGenIrs312262757
hapmaprs312262757
1000 genomesrs312262757
hgdprs312262757
ensemblrs312262757
gopubmedrs312262757
geneviewrs312262757
scholarrs312262757
googlers312262757
pharmgkbrs312262757
gwascentralrs312262757
openSNPrs312262757
23andMers312262757
23andMe allrs312262757
SNP Nexus

SNPshotrs312262757
SNPdbers312262757
MSV3drs312262757
GWAS Ctlgrs312262757
Max Magnitude0
ClinVar
Risk rs312262757(A;A)
Alt rs312262757(A;A)
Reference rs312262757(;)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44890980dupT
CLNSRC ClinVar GeneReviews
CLNACC RCV000034212.2,


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