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rs869025280

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869025280(C;T)
Make rs869025280(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position104796988
GeneHACE1
is asnp
is mentioned by
dbSNPrs869025280
ebirs869025280
HLIrs869025280
Exacrs869025280
Varsomers869025280
Maprs869025280
PheGenIrs869025280
hapmaprs869025280
1000 genomesrs869025280
hgdprs869025280
ensemblrs869025280
gopubmedrs869025280
geneviewrs869025280
scholarrs869025280
googlers869025280
pharmgkbrs869025280
gwascentralrs869025280
openSNPrs869025280
23andMers869025280
23andMe allrs869025280
SNP Nexus

SNPshotrs869025280
SNPdbers869025280
MSV3drs869025280
GWAS Ctlgrs869025280
Max Magnitude0
ClinVar
Risk rs869025280(T;T)
Alt rs869025280(T;T)
Reference rs869025280(C;C)
Significance Pathogenic
Disease Spastic paraplegia and psychomotor retardation with or without seizures
Variation info
Gene HACE1
CLNDBN Spastic paraplegia and psychomotor retardation with or without seizures
Reversed 1
HGVS NC_000006.11:g.105244863G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000207128.1,