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

rs869025284

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869025284(C;T)
Make rs869025284(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position104833122
GeneHACE1
is asnp
is mentioned by
dbSNPrs869025284
ebirs869025284
HLIrs869025284
Exacrs869025284
Varsomers869025284
Maprs869025284
PheGenIrs869025284
hapmaprs869025284
1000 genomesrs869025284
hgdprs869025284
ensemblrs869025284
gopubmedrs869025284
geneviewrs869025284
scholarrs869025284
googlers869025284
pharmgkbrs869025284
gwascentralrs869025284
openSNPrs869025284
23andMers869025284
23andMe allrs869025284
SNP Nexus

SNPshotrs869025284
SNPdbers869025284
MSV3drs869025284
GWAS Ctlgrs869025284
Max Magnitude0
ClinVar
Risk rs869025284(T;T)
Alt rs869025284(T;T)
Reference rs869025284(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.105280997G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000207034.1,