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rs104894677

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894677(A;A)
Make rs104894677(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position51347006
GeneETFB
is asnp
is mentioned by
dbSNPrs104894677
ebirs104894677
HLIrs104894677
Exacrs104894677
Varsomers104894677
Maprs104894677
PheGenIrs104894677
hapmaprs104894677
1000 genomesrs104894677
hgdprs104894677
ensemblrs104894677
gopubmedrs104894677
geneviewrs104894677
scholarrs104894677
googlers104894677
pharmgkbrs104894677
gwascentralrs104894677
openSNPrs104894677
23andMers104894677
23andMe allrs104894677
SNP Nexus

SNPshotrs104894677
SNPdbers104894677
MSV3drs104894677
GWAS Ctlgrs104894677
GMAF0.0004591
Max Magnitude0
OMIM130410
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894677(A;A)
Alt rs104894677(A;A)
Reference rs104894677(G;G)
Significance Pathogenic
Disease Glutaric acidemia IIB
Variation info
Gene ETFB
CLNDBN Glutaric acidemia IIB
Reversed 1
HGVS NC_000019.9:g.51850260C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018200.28,