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rs119458969

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs119458969(G;G)
Make rs119458969(G;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position76286463
GeneETFA
is asnp
is mentioned by
dbSNPrs119458969
ebirs119458969
HLIrs119458969
Exacrs119458969
Varsomers119458969
Maprs119458969
PheGenIrs119458969
hapmaprs119458969
1000 genomesrs119458969
hgdprs119458969
ensemblrs119458969
gopubmedrs119458969
geneviewrs119458969
scholarrs119458969
googlers119458969
pharmgkbrs119458969
gwascentralrs119458969
openSNPrs119458969
23andMers119458969
23andMe allrs119458969
SNP Nexus

SNPshotrs119458969
SNPdbers119458969
MSV3drs119458969
GWAS Ctlgrs119458969
Max Magnitude0
OMIM608053
Desc
Variant0001
Relatedalso
ClinVar
Risk rs119458969(G;G)
Alt rs119458969(G;G)
Reference rs119458969(T;T)
Significance Pathogenic
Disease Glutaric acidemia IIA
Variation info
Gene ETFA
CLNDBN Glutaric acidemia IIA
Reversed 1
HGVS NC_000015.9:g.76578804A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002711.2,