rs80338738
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs80338738(G;T) |
Make rs80338738(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 45369325 |
Gene | GATM |
is a | snp |
is | mentioned by |
dbSNP | rs80338738 |
dbSNP (classic) | rs80338738 |
ClinGen | rs80338738 |
ebi | rs80338738 |
HLI | rs80338738 |
Exac | rs80338738 |
Gnomad | rs80338738 |
Varsome | rs80338738 |
LitVar | rs80338738 |
Map | rs80338738 |
PheGenI | rs80338738 |
Biobank | rs80338738 |
1000 genomes | rs80338738 |
hgdp | rs80338738 |
ensembl | rs80338738 |
geneview | rs80338738 |
scholar | rs80338738 |
rs80338738 | |
pharmgkb | rs80338738 |
gwascentral | rs80338738 |
openSNP | rs80338738 |
23andMe | rs80338738 |
SNPshot | rs80338738 |
SNPdbe | rs80338738 |
MSV3d | rs80338738 |
GWAS Ctlg | rs80338738 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80338738(T;T) |
Alt | rs80338738(T;T) |
Reference | Rs80338738(G;G) |
Significance | Pathogenic |
Disease | Arginine:glycine amidinotransferase deficiency |
Variation | info |
Gene | GATM |
CLNDBN | Arginine:glycine amidinotransferase deficiency |
Reversed | 1 |
HGVS | NC_000015.9:g.45661523C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000020462.3, |