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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
ebirs11559290
HLIrs11559290
Exacrs11559290
Varsomers11559290
Maprs11559290
PheGenIrs11559290
hapmaprs11559290
1000 genomesrs11559290
hgdprs11559290
ensemblrs11559290
gopubmedrs11559290
geneviewrs11559290
scholarrs11559290
googlers11559290
pharmgkbrs11559290
gwascentralrs11559290
openSNPrs11559290
23andMers11559290
23andMe allrs11559290
SNP Nexus

SNPshotrs11559290
SNPdbers11559290
MSV3drs11559290
GWAS Ctlgrs11559290
GMAF0.2773
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene ETFDH
allele T
frequency 0.816
sift TOLERATED
HuRef 1103654598576
Disease Association Defects in ETFDH are the cause of glutaric aciduria type IIc (GAIIC) (MIM:231680); also known as glutaricaciduria IIC. GAIIC results in the excretion not only of glutaric acid but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids.



GET Evidence
ETFDH-T31I
aa_change Thr31Ile
aa_change_short T31I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.651543
summary



ClinVar
Risk rs11559290(T;T)
Alt rs11559290(T;T)
Reference rs11559290(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene ETFDH
CLNDBN not specified
Reversed 0
HGVS NC_000004.11:g.159601676C>T
CLNSRC ClinVar Emory University
CLNACC RCV000081080.4,