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rs764623179

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs764623179(C;G)
Make rs764623179(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position26284908
GeneHADHB
is asnp
is mentioned by
dbSNPrs764623179
ebirs764623179
HLIrs764623179
Exacrs764623179
Varsomers764623179
Maprs764623179
PheGenIrs764623179
hapmaprs764623179
1000 genomesrs764623179
hgdprs764623179
ensemblrs764623179
gopubmedrs764623179
geneviewrs764623179
scholarrs764623179
googlers764623179
pharmgkbrs764623179
gwascentralrs764623179
openSNPrs764623179
23andMers764623179
23andMe allrs764623179
SNP Nexus

SNPshotrs764623179
SNPdbers764623179
MSV3drs764623179
GWAS Ctlgrs764623179
Max Magnitude0
ClinVar
Risk rs764623179(G;G)
Alt rs764623179(G;G)
Reference rs764623179(C;C)
Significance Pathogenic
Disease Mitochondrial trifunctional protein deficiency
Variation info
Gene HADHB
CLNDBN Mitochondrial trifunctional protein deficiency
Reversed 0
HGVS NC_000002.11:g.26507776C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000170518.3,