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rs869025283

From SNPedia

Orientationminus
Geno Mag Summary
(TCT;TCT) 0 common in clinvar
Make rs869025283(-;-)
Make rs869025283(-;TCT)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position104744181
GeneHACE1
is asnp
is mentioned by
dbSNPrs869025283
ebirs869025283
HLIrs869025283
Exacrs869025283
Varsomers869025283
Maprs869025283
PheGenIrs869025283
hapmaprs869025283
1000 genomesrs869025283
hgdprs869025283
ensemblrs869025283
gopubmedrs869025283
geneviewrs869025283
scholarrs869025283
googlers869025283
pharmgkbrs869025283
gwascentralrs869025283
openSNPrs869025283
23andMers869025283
23andMe allrs869025283
SNP Nexus

SNPshotrs869025283
SNPdbers869025283
MSV3drs869025283
GWAS Ctlgrs869025283
Max Magnitude0
ClinVar
Risk rs869025283(;)
Alt rs869025283(;)
Reference rs869025283(TCT;TCT)
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.105192056_105192058delAGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000207174.1,