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rs119103249

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119103249(G;T)
Make rs119103249(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position43527175
GeneETHE1
is asnp
is mentioned by
dbSNPrs119103249
ebirs119103249
HLIrs119103249
Exacrs119103249
Varsomers119103249
Maprs119103249
PheGenIrs119103249
hapmaprs119103249
1000 genomesrs119103249
hgdprs119103249
ensemblrs119103249
gopubmedrs119103249
geneviewrs119103249
scholarrs119103249
googlers119103249
pharmgkbrs119103249
gwascentralrs119103249
openSNPrs119103249
23andMers119103249
23andMe allrs119103249
SNP Nexus

SNPshotrs119103249
SNPdbers119103249
MSV3drs119103249
GWAS Ctlgrs119103249
Max Magnitude0
OMIM608451
Desc
Variant0002
Relatedalso
ClinVar
Risk rs119103249(T;T)
Alt rs119103249(T;T)
Reference rs119103249(G;G)
Significance Pathogenic
Disease Ethylmalonic encephalopathy not provided
Variation info
Gene ETHE1
CLNDBN Ethylmalonic encephalopathy not provided
Reversed 1
HGVS NC_000019.9:g.44031327C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002408.3, RCV000197782.1,