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rs147103714

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs147103714(G;T)
Make rs147103714(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position26238957
GeneHADHA
is asnp
is mentioned by
dbSNPrs147103714
ebirs147103714
HLIrs147103714
Exacrs147103714
Varsomers147103714
Maprs147103714
PheGenIrs147103714
hapmaprs147103714
1000 genomesrs147103714
hgdprs147103714
ensemblrs147103714
gopubmedrs147103714
geneviewrs147103714
scholarrs147103714
googlers147103714
pharmgkbrs147103714
gwascentralrs147103714
openSNPrs147103714
23andMers147103714
23andMe allrs147103714
SNP Nexus

SNPshotrs147103714
SNPdbers147103714
MSV3drs147103714
GWAS Ctlgrs147103714
Max Magnitude0
ClinVar
Risk rs147103714(A,T;A,T)
Alt rs147103714(A,T;A,T)
Reference rs147103714(G;G)
Significance Pathogenic
Disease not provided Mitochondrial trifunctional protein deficiency Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Variation info
Gene HADHA
CLNDBN not provided Mitochondrial trifunctional protein deficiency Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Reversed 0
HGVS NC_000002.11:g.26461825G>A
CLNSRC HGMD
CLNACC RCV000078334.4, RCV000177002.1, RCV000177003.1,