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rs199827754

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199827754(A;A)
Make rs199827754(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position43526298
GeneETHE1
is asnp
is mentioned by
dbSNPrs199827754
dbSNP (classic)rs199827754
ClinGenrs199827754
ebirs199827754
HLIrs199827754
Exacrs199827754
Gnomadrs199827754
Varsomers199827754
LitVarrs199827754
Maprs199827754
PheGenIrs199827754
Biobankrs199827754
1000 genomesrs199827754
hgdprs199827754
ensemblrs199827754
geneviewrs199827754
scholarrs199827754
googlers199827754
pharmgkbrs199827754
gwascentralrs199827754
openSNPrs199827754
23andMers199827754
SNPshotrs199827754
SNPdbers199827754
MSV3drs199827754
GWAS Ctlgrs199827754
Max Magnitude0
ClinVar
Risk rs199827754(A;A)
Alt rs199827754(A;A)
Reference Rs199827754(G;G)
Significance Other
Disease not provided Ethylmalonic encephalopathy
Variation info
Gene ETHE1
CLNDBN not provided Ethylmalonic encephalopathy
Reversed 0
HGVS NC_000019.9:g.44030450G>A
CLNSRC
CLNACC RCV000196062.2, RCV000273437.1,