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rs312262792

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs312262792(-;-)
Make rs312262792(-;AAAC)
Make rs312262792(AAAC;AAAC)
ReferenceGRCh38 38.1/141
Chromosome15
Position44563296
GeneEIF3J, SPG11
is asnp
is mentioned by
dbSNPrs312262792
ebirs312262792
HLIrs312262792
Exacrs312262792
Varsomers312262792
Maprs312262792
PheGenIrs312262792
hapmaprs312262792
1000 genomesrs312262792
hgdprs312262792
ensemblrs312262792
gopubmedrs312262792
geneviewrs312262792
scholarrs312262792
googlers312262792
pharmgkbrs312262792
gwascentralrs312262792
openSNPrs312262792
23andMers312262792
23andMe allrs312262792
SNP Nexus

SNPshotrs312262792
SNPdbers312262792
MSV3drs312262792
GWAS Ctlgrs312262792
Max Magnitude0
ClinVar
Risk rs312262792(ACAA;ACAA)
Alt rs312262792(ACAA;ACAA)
Reference rs312262792(;)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11 EIF3J
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44855494_44855495insGTTT
CLNSRC ClinVar GeneReviews
CLNACC RCV000034265.2,


[PMID 18717728] Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).