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rs387907170

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387907170(C;C)
Make rs387907170(C;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position158703436
GeneETFDH
is asnp
is mentioned by
dbSNPrs387907170
ebirs387907170
HLIrs387907170
Exacrs387907170
Varsomers387907170
Maprs387907170
PheGenIrs387907170
hapmaprs387907170
1000 genomesrs387907170
hgdprs387907170
ensemblrs387907170
gopubmedrs387907170
geneviewrs387907170
scholarrs387907170
googlers387907170
pharmgkbrs387907170
gwascentralrs387907170
openSNPrs387907170
23andMers387907170
23andMe allrs387907170
SNP Nexus

SNPshotrs387907170
SNPdbers387907170
MSV3drs387907170
GWAS Ctlgrs387907170
Max Magnitude0
ClinVar
Risk rs387907170(C;C)
Alt rs387907170(C;C)
Reference rs387907170(T;T)
Significance Pathogenic
Disease Glutaric acidemia iic Inborn genetic diseases
Variation info
Gene ETFDH
CLNDBN Glutaric acidemia iic, late-onset Inborn genetic diseases
Reversed 0
HGVS NC_000004.11:g.159624588T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000024305.22, RCV000210651.1,