Have questions? Visit https://www.reddit.com/r/SNPedia

rs80338869

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338869(C;T)
Make rs80338869(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position44564675
GeneSPG11
is asnp
is mentioned by
dbSNPrs80338869
ebirs80338869
HLIrs80338869
Exacrs80338869
Varsomers80338869
Maprs80338869
PheGenIrs80338869
hapmaprs80338869
1000 genomesrs80338869
hgdprs80338869
ensemblrs80338869
gopubmedrs80338869
geneviewrs80338869
scholarrs80338869
googlers80338869
pharmgkbrs80338869
gwascentralrs80338869
openSNPrs80338869
23andMers80338869
23andMe allrs80338869
SNP Nexus

SNPshotrs80338869
SNPdbers80338869
MSV3drs80338869
GWAS Ctlgrs80338869
GMAF0.01286
Max Magnitude0
ClinVar
Risk rs80338869(A,T;A,T)
Alt rs80338869(A,T;A,T)
Reference rs80338869(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.44856873G>A; NC_000015.9:g.44856873G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000034258.2, RCV000034257.2,


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