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rs377686388

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs377686388(C;C)
Make rs377686388(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position158699015
GeneETFDH
is asnp
is mentioned by
dbSNPrs377686388
dbSNP (classic)rs377686388
ClinGenrs377686388
ebirs377686388
HLIrs377686388
Exacrs377686388
Gnomadrs377686388
Varsomers377686388
LitVarrs377686388
Maprs377686388
PheGenIrs377686388
Biobankrs377686388
1000 genomesrs377686388
hgdprs377686388
ensemblrs377686388
geneviewrs377686388
scholarrs377686388
googlers377686388
pharmgkbrs377686388
gwascentralrs377686388
openSNPrs377686388
23andMers377686388
SNPshotrs377686388
SNPdbers377686388
MSV3drs377686388
GWAS Ctlgrs377686388
Max Magnitude0
ClinVar
Risk rs377686388(C;C)
Alt rs377686388(C;C)
Reference Rs377686388(T;T)
Significance Pathogenic
Disease Glutaric aciduria
Variation info
Gene ETFDH
CLNDBN Glutaric aciduria, type 2
Reversed 0
HGVS NC_000004.11:g.159620167T>C
CLNSRC
CLNACC RCV000180601.1,