rs386833531
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(T;T) | 3 | Likely miscall if from Ancestry data; otherwise, possible mutation |
Make rs386833531(C;T) |
Reference | GRCh37.p10 37.5/138 |
Chromosome | 9 |
Position | 6587205 |
Gene | GLDC |
is a | snp |
is | mentioned by |
dbSNP | rs386833531 |
dbSNP (classic) | rs386833531 |
ClinGen | rs386833531 |
ebi | rs386833531 |
HLI | rs386833531 |
Exac | rs386833531 |
Gnomad | rs386833531 |
Varsome | rs386833531 |
LitVar | rs386833531 |
Map | rs386833531 |
PheGenI | rs386833531 |
Biobank | rs386833531 |
1000 genomes | rs386833531 |
hgdp | rs386833531 |
ensembl | rs386833531 |
geneview | rs386833531 |
scholar | rs386833531 |
rs386833531 | |
pharmgkb | rs386833531 |
gwascentral | rs386833531 |
openSNP | rs386833531 |
23andMe | rs386833531 |
SNPshot | rs386833531 |
SNPdbe | rs386833531 |
MSV3d | rs386833531 |
GWAS Ctlg | rs386833531 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | Rs386833531(T;T) |
Alt | Rs386833531(T;T) |
Reference | Rs386833531(C;C) |
Significance | Probable-Pathogenic |
Disease | Non-ketotic hyperglycinemia |
Variation | info |
Gene | GLDC |
CLNDBN | Non-ketotic hyperglycinemia |
Reversed | 1 |
HGVS | NC_000009.11:g.6587205G>A |
CLNSRC | ClinVar |
CLNACC | RCV000049459.1, |
[PMID 16450403] Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.