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rs312262754

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs312262754(-;-)
Make rs312262754(-;AT)
ReferenceGRCh38 38.1/141
Chromosome15
Position44600550
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262754
ebirs312262754
HLIrs312262754
Exacrs312262754
Varsomers312262754
Maprs312262754
PheGenIrs312262754
hapmaprs312262754
1000 genomesrs312262754
hgdprs312262754
ensemblrs312262754
gopubmedrs312262754
geneviewrs312262754
scholarrs312262754
googlers312262754
pharmgkbrs312262754
gwascentralrs312262754
openSNPrs312262754
23andMers312262754
23andMe allrs312262754
SNP Nexus

SNPshotrs312262754
SNPdbers312262754
MSV3drs312262754
GWAS Ctlgrs312262754
Max Magnitude0
ClinVar
Risk rs312262754(;)
Alt rs312262754(;)
Reference rs312262754(AT;AT)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44892748_44892749delAT
CLNSRC ClinVar GeneReviews
CLNACC RCV000034209.2,


[PMID 20390432OA-icon.png] Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.