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rs750371878

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs750371878(A;A)
Make rs750371878(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position104796666
GeneHACE1
is asnp
is mentioned by
dbSNPrs750371878
ebirs750371878
HLIrs750371878
Exacrs750371878
Varsomers750371878
Maprs750371878
PheGenIrs750371878
hapmaprs750371878
1000 genomesrs750371878
hgdprs750371878
ensemblrs750371878
gopubmedrs750371878
geneviewrs750371878
scholarrs750371878
googlers750371878
pharmgkbrs750371878
gwascentralrs750371878
openSNPrs750371878
23andMers750371878
23andMe allrs750371878
SNP Nexus

SNPshotrs750371878
SNPdbers750371878
MSV3drs750371878
GWAS Ctlgrs750371878
Max Magnitude0
ClinVar
Risk rs750371878(A;A)
Alt rs750371878(A;A)
Reference rs750371878(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.105244541G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000207161.1,