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rs878854975

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs878854975(G;G)
Make rs878854975(G;T)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position6464888
GeneTAPBPL, VAMP1
is asnp
is mentioned by
dbSNPrs878854975
dbSNP (classic)rs878854975
ClinGenrs878854975
ebirs878854975
HLIrs878854975
Exacrs878854975
Gnomadrs878854975
Varsomers878854975
LitVarrs878854975
Maprs878854975
PheGenIrs878854975
Biobankrs878854975
1000 genomesrs878854975
hgdprs878854975
ensemblrs878854975
geneviewrs878854975
scholarrs878854975
googlers878854975
pharmgkbrs878854975
gwascentralrs878854975
openSNPrs878854975
23andMers878854975
SNPshotrs878854975
SNPdbers878854975
MSV3drs878854975
GWAS Ctlgrs878854975
Max Magnitude0
ClinVar
Risk rs878854975(G;G)
Alt rs878854975(G;G)
Reference Rs878854975(T;T)
Significance Pathogenic
Disease Ataxia Spastic paraplegia not provided
Variation info
Gene VAMP1
CLNDBN Ataxia, spastic, 1, autosomal dominant Spastic paraplegia not provided
Reversed 1
HGVS NC_000012.11:g.6574054A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000128446.2, RCV000233592.1, RCV000255544.1,