rs201135624
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs201135624(A;A) |
Make rs201135624(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 6558671 |
Gene | GLDC |
is a | snp |
is | mentioned by |
dbSNP | rs201135624 |
dbSNP (classic) | rs201135624 |
ClinGen | rs201135624 |
ebi | rs201135624 |
HLI | rs201135624 |
Exac | rs201135624 |
Gnomad | rs201135624 |
Varsome | rs201135624 |
LitVar | rs201135624 |
Map | rs201135624 |
PheGenI | rs201135624 |
Biobank | rs201135624 |
1000 genomes | rs201135624 |
hgdp | rs201135624 |
ensembl | rs201135624 |
geneview | rs201135624 |
scholar | rs201135624 |
rs201135624 | |
pharmgkb | rs201135624 |
gwascentral | rs201135624 |
openSNP | rs201135624 |
23andMe | rs201135624 |
SNPshot | rs201135624 |
SNPdbe | rs201135624 |
MSV3d | rs201135624 |
GWAS Ctlg | rs201135624 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201135624(A;A) |
Alt | rs201135624(A;A) |
Reference | Rs201135624(G;G) |
Significance | Pathogenic |
Disease | Non-ketotic hyperglycinemia Smith-Magenis Syndrome-like |
Variation | info |
Gene | GLDC |
CLNDBN | Non-ketotic hyperglycinemia Smith-Magenis Syndrome-like |
Reversed | 0 |
HGVS | NC_000009.11:g.6558671G>A |
CLNSRC | |
CLNACC | RCV000284142.1, RCV000491317.1, |