rs80338735
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs80338735(A;A) |
Make rs80338735(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 1399793 |
Gene | GAMT |
is a | snp |
is | mentioned by |
dbSNP | rs80338735 |
dbSNP (classic) | rs80338735 |
ClinGen | rs80338735 |
ebi | rs80338735 |
HLI | rs80338735 |
Exac | rs80338735 |
Gnomad | rs80338735 |
Varsome | rs80338735 |
LitVar | rs80338735 |
Map | rs80338735 |
PheGenI | rs80338735 |
Biobank | rs80338735 |
1000 genomes | rs80338735 |
hgdp | rs80338735 |
ensembl | rs80338735 |
geneview | rs80338735 |
scholar | rs80338735 |
rs80338735 | |
pharmgkb | rs80338735 |
gwascentral | rs80338735 |
openSNP | rs80338735 |
23andMe | rs80338735 |
SNPshot | rs80338735 |
SNPdbe | rs80338735 |
MSV3d | rs80338735 |
GWAS Ctlg | rs80338735 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80338735(A;A) |
Alt | rs80338735(A;A) |
Reference | Rs80338735(G;G) |
Significance | Pathogenic |
Disease | Deficiency of guanidinoacetate methyltransferase not provided |
Variation | info |
Gene | GAMT |
CLNDBN | Deficiency of guanidinoacetate methyltransferase not provided |
Reversed | 1 |
HGVS | NC_000019.9:g.1399792C>T |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000020141.3, RCV000187564.3, |
[PMID 8651275] Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man.