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rs869025281

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869025281(C;T)
Make rs869025281(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position104750442
GeneHACE1
is asnp
is mentioned by
dbSNPrs869025281
ebirs869025281
HLIrs869025281
Exacrs869025281
Varsomers869025281
Maprs869025281
PheGenIrs869025281
hapmaprs869025281
1000 genomesrs869025281
hgdprs869025281
ensemblrs869025281
gopubmedrs869025281
geneviewrs869025281
scholarrs869025281
googlers869025281
pharmgkbrs869025281
gwascentralrs869025281
openSNPrs869025281
23andMers869025281
23andMe allrs869025281
SNP Nexus

SNPshotrs869025281
SNPdbers869025281
MSV3drs869025281
GWAS Ctlgrs869025281
Max Magnitude0
ClinVar
Risk rs869025281(T;T)
Alt rs869025281(T;T)
Reference rs869025281(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.105198317G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000207215.1,