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rs141848292

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs141848292(A;A)
Make rs141848292(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position44584057
GeneSPG11
is asnp
is mentioned by
dbSNPrs141848292
ebirs141848292
HLIrs141848292
Exacrs141848292
Varsomers141848292
Maprs141848292
PheGenIrs141848292
hapmaprs141848292
1000 genomesrs141848292
hgdprs141848292
ensemblrs141848292
gopubmedrs141848292
geneviewrs141848292
scholarrs141848292
googlers141848292
pharmgkbrs141848292
gwascentralrs141848292
openSNPrs141848292
23andMers141848292
23andMe allrs141848292
SNP Nexus

SNPshotrs141848292
SNPdbers141848292
MSV3drs141848292
GWAS Ctlgrs141848292
Max Magnitude0
ClinVar
Risk rs141848292(A;A)
Alt rs141848292(A;A)
Reference rs141848292(G;G)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 0
HGVS NC_000015.9:g.44876255G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001175.5,


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