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rs786205088

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786205088(A;A)
Make rs786205088(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position26238933
GeneHADHA
is asnp
is mentioned by
dbSNPrs786205088
ebirs786205088
HLIrs786205088
Exacrs786205088
Varsomers786205088
Maprs786205088
PheGenIrs786205088
hapmaprs786205088
1000 genomesrs786205088
hgdprs786205088
ensemblrs786205088
gopubmedrs786205088
geneviewrs786205088
scholarrs786205088
googlers786205088
pharmgkbrs786205088
gwascentralrs786205088
openSNPrs786205088
23andMers786205088
23andMe allrs786205088
SNP Nexus

SNPshotrs786205088
SNPdbers786205088
MSV3drs786205088
GWAS Ctlgrs786205088
Max Magnitude0
ClinVar
Risk rs786205088(A;A)
Alt rs786205088(A;A)
Reference rs786205088(G;G)
Significance Pathogenic
Disease Mitochondrial trifunctional protein deficiency
Variation info
Gene HADHA
CLNDBN Mitochondrial trifunctional protein deficiency
Reversed 1
HGVS NC_000002.11:g.26461801C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009269.4,