rs752137615
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
Make rs752137615(-;-) |
Make rs752137615(-;AG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 23817521 |
Gene | HMGCL |
is a | snp |
is | mentioned by |
dbSNP | rs752137615 |
dbSNP (classic) | rs752137615 |
ClinGen | rs752137615 |
ebi | rs752137615 |
HLI | rs752137615 |
Exac | rs752137615 |
Gnomad | rs752137615 |
Varsome | rs752137615 |
LitVar | rs752137615 |
Map | rs752137615 |
PheGenI | rs752137615 |
Biobank | rs752137615 |
1000 genomes | rs752137615 |
hgdp | rs752137615 |
ensembl | rs752137615 |
geneview | rs752137615 |
scholar | rs752137615 |
rs752137615 | |
pharmgkb | rs752137615 |
gwascentral | rs752137615 |
openSNP | rs752137615 |
23andMe | rs752137615 |
SNPshot | rs752137615 |
SNPdbe | rs752137615 |
MSV3d | rs752137615 |
GWAS Ctlg | rs752137615 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs752137615(-;-) |
Alt | rs752137615(-;-) |
Reference | Rs752137615(AG;AG) |
Significance | Pathogenic |
Disease | Deficiency of hydroxymethylglutaryl-CoA lyase not provided |
Variation | info |
Gene | HMGCL |
CLNDBN | Deficiency of hydroxymethylglutaryl-CoA lyase not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.24144011_24144012delAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012732.4, RCV000185970.2, |