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rs387906987

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906987(G;G)
Make rs387906987(G;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position43508816
GeneETHE1
is asnp
is mentioned by
dbSNPrs387906987
ebirs387906987
HLIrs387906987
Exacrs387906987
Varsomers387906987
Maprs387906987
PheGenIrs387906987
hapmaprs387906987
1000 genomesrs387906987
hgdprs387906987
ensemblrs387906987
gopubmedrs387906987
geneviewrs387906987
scholarrs387906987
googlers387906987
pharmgkbrs387906987
gwascentralrs387906987
openSNPrs387906987
23andMers387906987
23andMe allrs387906987
SNP Nexus

SNPshotrs387906987
SNPdbers387906987
MSV3drs387906987
GWAS Ctlgrs387906987
Max Magnitude0
ClinVar
Risk rs387906987(G;G)
Alt rs387906987(G;G)
Reference rs387906987(T;T)
Significance Pathogenic
Disease Ethylmalonic encephalopathy
Variation info
Gene ETHE1
CLNDBN Ethylmalonic encephalopathy
Reversed 1
HGVS NC_000019.9:g.44012968A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023703.2,