rs28941474
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs28941474(C;C) |
Make rs28941474(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 131573314 |
Gene | ARG1 |
is a | snp |
is | mentioned by |
dbSNP | rs28941474 |
dbSNP (classic) | rs28941474 |
ClinGen | rs28941474 |
ebi | rs28941474 |
HLI | rs28941474 |
Exac | rs28941474 |
Gnomad | rs28941474 |
Varsome | rs28941474 |
LitVar | rs28941474 |
Map | rs28941474 |
PheGenI | rs28941474 |
Biobank | rs28941474 |
1000 genomes | rs28941474 |
hgdp | rs28941474 |
ensembl | rs28941474 |
geneview | rs28941474 |
scholar | rs28941474 |
rs28941474 | |
pharmgkb | rs28941474 |
gwascentral | rs28941474 |
openSNP | rs28941474 |
23andMe | rs28941474 |
SNPshot | rs28941474 |
SNPdbe | rs28941474 |
MSV3d | rs28941474 |
GWAS Ctlg | rs28941474 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28941474(C;C) |
Alt | rs28941474(C;C) |
Reference | Rs28941474(T;T) |
Significance | Pathogenic |
Disease | Arginase deficiency |
Variation | info |
Gene | ARG1 |
CLNDBN | Arginase deficiency |
Reversed | 0 |
HGVS | NC_000006.11:g.131894454T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002494.3, |