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rs28939094

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28939094(A;G)
Make rs28939094(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position50628133
GeneATL1
is asnp
is mentioned by
dbSNPrs28939094
dbSNP (classic)rs28939094
ClinGenrs28939094
ebirs28939094
HLIrs28939094
Exacrs28939094
Gnomadrs28939094
Varsomers28939094
LitVarrs28939094
Maprs28939094
PheGenIrs28939094
Biobankrs28939094
1000 genomesrs28939094
hgdprs28939094
ensemblrs28939094
geneviewrs28939094
scholarrs28939094
googlers28939094
pharmgkbrs28939094
gwascentralrs28939094
openSNPrs28939094
23andMers28939094
SNPshotrs28939094
SNPdbers28939094
MSV3drs28939094
GWAS Ctlgrs28939094
Max Magnitude0
OMIM606439
DescSPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT
Variant0006
Relatedalso


ClinVar
Risk rs28939094(G;G)
Alt rs28939094(G;G)
Reference Rs28939094(A;A)
Significance Pathogenic
Disease Spastic paraplegia 3
Variation info
Gene ATL1
CLNDBN Spastic paraplegia 3
Reversed 0
HGVS NC_000014.8:g.51094851A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004599.2,