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rs761086584

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs761086584(G;T)
Make rs761086584(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position104849228
GeneHACE1
is asnp
is mentioned by
dbSNPrs761086584
ebirs761086584
HLIrs761086584
Exacrs761086584
Varsomers761086584
Maprs761086584
PheGenIrs761086584
hapmaprs761086584
1000 genomesrs761086584
hgdprs761086584
ensemblrs761086584
gopubmedrs761086584
geneviewrs761086584
scholarrs761086584
googlers761086584
pharmgkbrs761086584
gwascentralrs761086584
openSNPrs761086584
23andMers761086584
23andMe allrs761086584
SNP Nexus

SNPshotrs761086584
SNPdbers761086584
MSV3drs761086584
GWAS Ctlgrs761086584
Max Magnitude0
ClinVar
Risk rs761086584(A,T;A,T)
Alt rs761086584(A,T;A,T)
Reference rs761086584(G;G)
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 0
HGVS NC_000006.11:g.105297103G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000207289.1,