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rs11559290

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs11559290(C;T)
Make rs11559290(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position158680524
GeneETFDH
is asnp
is mentioned by
dbSNPrs11559290
dbSNP (old)rs11559290
ClinGenrs11559290
ebirs11559290
HLIrs11559290
Exacrs11559290
Gnomadrs11559290
Varsomers11559290
LitVarrs11559290
Maprs11559290
PheGenIrs11559290
Biobankrs11559290
1000 genomesrs11559290
hgdprs11559290
ensemblrs11559290
gopubmedrs11559290
geneviewrs11559290
scholarrs11559290
googlers11559290
pharmgkbrs11559290
gwascentralrs11559290
openSNPrs11559290
23andMers11559290
23andMe allrs11559290
SNPshotrs11559290
SNPdbers11559290
MSV3drs11559290
GWAS Ctlgrs11559290
GMAF0.2773
Max Magnitude0
? (C;C) (C;T) (T;T) 28



ClinVar
Risk rs11559290(T;T)
Alt rs11559290(T;T)
Reference Rs11559290(C;C)
Significance Non-pathogenic
Disease not specified Glutaric aciduria
Variation info
Gene ETFDH
CLNDBN not specified Glutaric aciduria, type 2
Reversed 0
HGVS NC_000004.11:g.159601676C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000081080.4, RCV000355141.1,