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rs3177751

From SNPedia

Merged intors1130426
Orientationminus
Stabilizedminus
Make rs3177751(C;C)
Make rs3177751(C;T)
Make rs3177751(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position51347036
GeneETFB
is asnp
is mentioned by
dbSNPrs3177751
ebirs3177751
HLIrs3177751
Exacrs3177751
Varsomers3177751
Maprs3177751
PheGenIrs3177751
hapmaprs3177751
1000 genomesrs3177751
hgdprs3177751
ensemblrs3177751
gopubmedrs3177751
geneviewrs3177751
scholarrs3177751
googlers3177751
pharmgkbrs3177751
gwascentralrs3177751
openSNPrs3177751
23andMers3177751
23andMe allrs3177751
SNP Nexus

SNPshotrs3177751
SNPdbers3177751
MSV3drs3177751
GWAS Ctlgrs3177751
StatusMerged into rs1130426
Max Magnitude
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene ETFB
allele A
frequency
sift AFFECT FUNCTION
HuRef 1103691166320
Disease Association Defects in ETFB are the cause of glutaric aciduria type IIB (GAIIB) (MIM:231680); also known as glutaricaciduria IIB. GAIIB results in the excretion not only of glutaric acid but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. It is seen in its most severe form in infancy, with polycystic and dysplastic kidneys, hypoketotic acidosis and hypoglycemia that can lead to death. The milder form can be characterized by recurrent episodes of lasting lethargy or slowly progressive myopathy.