Have questions? Visit https://www.reddit.com/r/SNPedia

rs781222705

来自SNPedia
跳转至:导航搜索

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs781222705(C;C)
Make rs781222705(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position26238931
GeneHADHA
is asnp
is mentioned by
dbSNPrs781222705
ebirs781222705
HLIrs781222705
Exacrs781222705
Varsomers781222705
Maprs781222705
PheGenIrs781222705
hapmaprs781222705
1000 genomesrs781222705
hgdprs781222705
ensemblrs781222705
gopubmedrs781222705
geneviewrs781222705
scholarrs781222705
googlers781222705
pharmgkbrs781222705
gwascentralrs781222705
openSNPrs781222705
23andMers781222705
23andMe allrs781222705
SNP Nexus

SNPshotrs781222705
SNPdbers781222705
MSV3drs781222705
GWAS Ctlgrs781222705
Max Magnitude0
ClinVar
Risk rs781222705(C;C)
Alt rs781222705(C;C)
Reference rs781222705(T;T)
Significance Pathogenic
Disease Mitochondrial trifunctional protein deficiency Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency not provided
Variation info
Gene HADHA
CLNDBN Mitochondrial trifunctional protein deficiency Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency not provided
Reversed 0
HGVS NC_000002.11:g.26461799T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009270.5, RCV000177004.1, RCV000185934.1,