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rs104894678

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894678(A;A)
Make rs104894678(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position51350385
GeneETFB
is asnp
is mentioned by
dbSNPrs104894678
ebirs104894678
HLIrs104894678
Exacrs104894678
Varsomers104894678
Maprs104894678
PheGenIrs104894678
hapmaprs104894678
1000 genomesrs104894678
hgdprs104894678
ensemblrs104894678
gopubmedrs104894678
geneviewrs104894678
scholarrs104894678
googlers104894678
pharmgkbrs104894678
gwascentralrs104894678
openSNPrs104894678
23andMers104894678
23andMe allrs104894678
SNP Nexus

SNPshotrs104894678
SNPdbers104894678
MSV3drs104894678
GWAS Ctlgrs104894678
Max Magnitude0
OMIM130410
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894678(A;A)
Alt rs104894678(A;A)
Reference rs104894678(G;G)
Significance Pathogenic
Disease Glutaric acidemia IIB
Variation info
Gene ETFB
CLNDBN Glutaric acidemia IIB
Reversed 1
HGVS NC_000019.9:g.51853639C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018202.24,