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rs28940289

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28940289(C;T)
Make rs28940289(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position43511455
GeneETHE1
is asnp
is mentioned by
dbSNPrs28940289
ebirs28940289
HLIrs28940289
Exacrs28940289
Varsomers28940289
Maprs28940289
PheGenIrs28940289
hapmaprs28940289
1000 genomesrs28940289
hgdprs28940289
ensemblrs28940289
gopubmedrs28940289
geneviewrs28940289
scholarrs28940289
googlers28940289
pharmgkbrs28940289
gwascentralrs28940289
openSNPrs28940289
23andMers28940289
23andMe allrs28940289
SNP Nexus

SNPshotrs28940289
SNPdbers28940289
MSV3drs28940289
GWAS Ctlgrs28940289
Max Magnitude0
OMIM608451
DescETHYLMALONIC ENCEPHALOPATHY
Variant0001
Relatedalso
ClinVar
Risk rs28940289(T;T)
Alt rs28940289(T;T)
Reference rs28940289(C;C)
Significance Pathogenic
Disease Ethylmalonic encephalopathy
Variation info
Gene ETHE1
CLNDBN Ethylmalonic encephalopathy
Reversed 1
HGVS NC_000019.9:g.44015607G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002407.3,