rs79987078
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs79987078(A;A) |
Make rs79987078(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 32864206 |
Gene | SLC7A9 |
is a | snp |
is | mentioned by |
dbSNP | rs79987078 |
dbSNP (classic) | rs79987078 |
ClinGen | rs79987078 |
ebi | rs79987078 |
HLI | rs79987078 |
Exac | rs79987078 |
Gnomad | rs79987078 |
Varsome | rs79987078 |
LitVar | rs79987078 |
Map | rs79987078 |
PheGenI | rs79987078 |
Biobank | rs79987078 |
1000 genomes | rs79987078 |
hgdp | rs79987078 |
ensembl | rs79987078 |
geneview | rs79987078 |
scholar | rs79987078 |
rs79987078 | |
pharmgkb | rs79987078 |
gwascentral | rs79987078 |
openSNP | rs79987078 |
23andMe | rs79987078 |
SNPshot | rs79987078 |
SNPdbe | rs79987078 |
MSV3d | rs79987078 |
GWAS Ctlg | rs79987078 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs79987078(A;A) |
Alt | rs79987078(A;A) |
Reference | Rs79987078(G;G) |
Significance | Pathogenic |
Disease | Cystinuria |
Variation | info |
Gene | SLC7A9 |
CLNDBN | Cystinuria |
Reversed | 0 |
HGVS | NC_000019.9:g.33355112G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000006149.3, |