rs386833548
From SNPedia
Merged into | rs121964975 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TCT;TCT) | 0 | common in clinvar |
Make rs386833548(-;-) |
Make rs386833548(-;TCT) |
Reference | GRCh37.p10 37.5/138 |
Chromosome | 9 |
Position | 6554715 |
Gene | GLDC |
is a | snp |
is | mentioned by |
dbSNP | rs386833548 |
dbSNP (classic) | rs386833548 |
ClinGen | rs386833548 |
ebi | rs386833548 |
HLI | rs386833548 |
Exac | rs386833548 |
Gnomad | rs386833548 |
Varsome | rs386833548 |
LitVar | rs386833548 |
Map | rs386833548 |
PheGenI | rs386833548 |
Biobank | rs386833548 |
1000 genomes | rs386833548 |
hgdp | rs386833548 |
ensembl | rs386833548 |
geneview | rs386833548 |
scholar | rs386833548 |
rs386833548 | |
pharmgkb | rs386833548 |
gwascentral | rs386833548 |
openSNP | rs386833548 |
23andMe | rs386833548 |
SNPshot | rs386833548 |
SNPdbe | rs386833548 |
MSV3d | rs386833548 |
GWAS Ctlg | rs386833548 |
Status | Merged into rs121964975 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs386833548(TCT;TCT) |
Significance | Other |
Disease | Non-ketotic hyperglycinemia |
Variation | info |
Gene | GLDC |
CLNDBN | Non-ketotic hyperglycinemia |
Reversed | 1 |
HGVS | NC_000009.11:g.6554715_6554717delAGA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000049476.2, |
[PMID 1996985] Structural and expression analyses of normal and mutant mRNA encoding glycine decarboxylase: three-base deletion in mRNA causes nonketotic hyperglycinemia.