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rs4956145

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0
(T;T) 0 common in clinvar
Make rs4956145(C;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position108009883
GeneHADH
is asnp
is mentioned by
dbSNPrs4956145
ebirs4956145
HLIrs4956145
Exacrs4956145
Varsomers4956145
Maprs4956145
PheGenIrs4956145
hapmaprs4956145
1000 genomesrs4956145
hgdprs4956145
ensemblrs4956145
gopubmedrs4956145
geneviewrs4956145
scholarrs4956145
googlers4956145
pharmgkbrs4956145
gwascentralrs4956145
openSNPrs4956145
23andMers4956145
23andMe allrs4956145
SNP Nexus

SNPshotrs4956145
SNPdbers4956145
MSV3drs4956145
GWAS Ctlgrs4956145
GMAF0.1074
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene HADH
allele C
frequency 0.958
sift TOLERATED
HuRef 1103654509365
Disease Association Defects in HADHSC are the cause of 3-alpha-hydroxyacyl- CoA dehydrogenase deficiency (HAD deficiency) (MIM:609609). HAD deficiency is a metabolic disorder with various clinical presentations including hypoglycemia, hepatoencephalopathy, myopathy or cardiomyopathy, and in some cases sudden death.



GET Evidence
HADH-L86P
aa_change Leu86Pro
aa_change_short L86P
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.847091
summary



ClinVar
Risk rs4956145(C;C)
Alt rs4956145(C;C)
Reference rs4956145(T;T)
Significance Non-pathogenic
Disease not specified
Variation info
Gene HADH
CLNDBN not specified
Reversed 0
HGVS NC_000004.11:g.108931039T>C
CLNSRC
CLNACC RCV000153344.2,