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rs113112630

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113112630(A;A)
Make rs113112630(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position26263480
GeneHADHB
is asnp
is mentioned by
dbSNPrs113112630
dbSNP (old)rs113112630
ClinGenrs113112630
ebirs113112630
HLIrs113112630
Exacrs113112630
Gnomadrs113112630
Varsomers113112630
Maprs113112630
PheGenIrs113112630
Biobankrs113112630
1000 genomesrs113112630
hgdprs113112630
ensemblrs113112630
gopubmedrs113112630
geneviewrs113112630
scholarrs113112630
googlers113112630
pharmgkbrs113112630
gwascentralrs113112630
openSNPrs113112630
23andMers113112630
23andMe allrs113112630
SNPshotrs113112630
SNPdbers113112630
MSV3drs113112630
GWAS Ctlgrs113112630
Max Magnitude0
ClinVar
Risk rs113112630(A;A)
Alt rs113112630(A;A)
Reference Rs113112630(G;G)
Significance Probable-Pathogenic
Disease Mitochondrial trifunctional protein deficiency
Variation info
Gene HADHB
CLNDBN Mitochondrial trifunctional protein deficiency
Reversed 0
HGVS NC_000002.11:g.26486348G>A
CLNSRC
CLNACC RCV000490315.1,