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rs878855011

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;C) 3 Carrier of a spastic paraplegia type 15 mutation
(C;C) 0 common in clinvar


Make rs878855011(-;-)
ReferenceGRCh38.p2 38.2/147
Chromosome14
Position67785209
GeneZFYVE26
is asnp
is mentioned by
dbSNPrs878855011
dbSNP (classic)rs878855011
ClinGenrs878855011
ebirs878855011
HLIrs878855011
Exacrs878855011
Gnomadrs878855011
Varsomers878855011
LitVarrs878855011
Maprs878855011
PheGenIrs878855011
Biobankrs878855011
1000 genomesrs878855011
hgdprs878855011
ensemblrs878855011
geneviewrs878855011
scholarrs878855011
googlers878855011
pharmgkbrs878855011
gwascentralrs878855011
openSNPrs878855011
23andMers878855011
SNPshotrs878855011
SNPdbers878855011
MSV3drs878855011
GWAS Ctlgrs878855011
Max Magnitude3

aka c.3373delC, p.His1125Thrfs

see ZFYVE26

ClinVar
Risk rs878855011(-;-)
Alt rs878855011(-;-)
Reference Rs878855011(C;C)
Significance Pathogenic
Disease Spastic paraplegia Spastic paraplegia 15
Variation info
Gene ZFYVE26
CLNDBN Spastic paraplegia Spastic paraplegia 15
Reversed 1
HGVS NC_000014.8:g.68251926delG
CLNSRC
CLNACC RCV000227975.1, RCV000272247.1,