rs587776539
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587776539(A;A) |
Make rs587776539(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 6 |
Position | 131573340 |
Gene | ARG1 |
is a | snp |
is | mentioned by |
dbSNP | rs587776539 |
dbSNP (classic) | rs587776539 |
ClinGen | rs587776539 |
ebi | rs587776539 |
HLI | rs587776539 |
Exac | rs587776539 |
Gnomad | rs587776539 |
Varsome | rs587776539 |
LitVar | rs587776539 |
Map | rs587776539 |
PheGenI | rs587776539 |
Biobank | rs587776539 |
1000 genomes | rs587776539 |
hgdp | rs587776539 |
ensembl | rs587776539 |
geneview | rs587776539 |
scholar | rs587776539 |
rs587776539 | |
pharmgkb | rs587776539 |
gwascentral | rs587776539 |
openSNP | rs587776539 |
23andMe | rs587776539 |
SNPshot | rs587776539 |
SNPdbe | rs587776539 |
MSV3d | rs587776539 |
GWAS Ctlg | rs587776539 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776539(A;A) |
Alt | rs587776539(A;A) |
Reference | Rs587776539(G;G) |
Significance | Pathogenic |
Disease | Arginase deficiency |
Variation | info |
Gene | ARG1 |
CLNDBN | Arginase deficiency |
Reversed | 0 |
HGVS | NC_000006.11:g.131894480G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002496.4, |