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rs119458971

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119458971(A;A)
Make rs119458971(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position76292436
GeneETFA
is asnp
is mentioned by
dbSNPrs119458971
ebirs119458971
HLIrs119458971
Exacrs119458971
Varsomers119458971
Maprs119458971
PheGenIrs119458971
hapmaprs119458971
1000 genomesrs119458971
hgdprs119458971
ensemblrs119458971
gopubmedrs119458971
geneviewrs119458971
scholarrs119458971
googlers119458971
pharmgkbrs119458971
gwascentralrs119458971
openSNPrs119458971
23andMers119458971
23andMe allrs119458971
SNP Nexus

SNPshotrs119458971
SNPdbers119458971
MSV3drs119458971
GWAS Ctlgrs119458971
Max Magnitude0
OMIM608053
Desc
Variant0003
Relatedalso
ClinVar
Risk rs119458971(A;A)
Alt rs119458971(A;A)
Reference rs119458971(G;G)
Significance Pathogenic
Disease Glutaric acidemia IIA
Variation info
Gene ETFA
CLNDBN Glutaric acidemia IIA
Reversed 1
HGVS NC_000015.9:g.76584777C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002713.2,