rs137852640
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs137852640(A;G) |
Make rs137852640(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 119764231 |
Gene | HMGCS2 |
is a | snp |
is | mentioned by |
dbSNP | rs137852640 |
dbSNP (classic) | rs137852640 |
ClinGen | rs137852640 |
ebi | rs137852640 |
HLI | rs137852640 |
Exac | rs137852640 |
Gnomad | rs137852640 |
Varsome | rs137852640 |
LitVar | rs137852640 |
Map | rs137852640 |
PheGenI | rs137852640 |
Biobank | rs137852640 |
1000 genomes | rs137852640 |
hgdp | rs137852640 |
ensembl | rs137852640 |
geneview | rs137852640 |
scholar | rs137852640 |
rs137852640 | |
pharmgkb | rs137852640 |
gwascentral | rs137852640 |
openSNP | rs137852640 |
23andMe | rs137852640 |
SNPshot | rs137852640 |
SNPdbe | rs137852640 |
MSV3d | rs137852640 |
GWAS Ctlg | rs137852640 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137852640(G;G) |
Alt | rs137852640(G;G) |
Reference | Rs137852640(A;A) |
Significance | Pathogenic |
Disease | mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
Variation | info |
Gene | HMGCS2 |
CLNDBN | mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
Reversed | 1 |
HGVS | NC_000001.10:g.120306854T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000009844.4, |