rs797044609
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs797044609(-;TG) |
Make rs797044609(TG;TG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 44304282 |
Gene | SLC3A1 |
is a | snp |
is | mentioned by |
dbSNP | rs797044609 |
dbSNP (classic) | rs797044609 |
ClinGen | rs797044609 |
ebi | rs797044609 |
HLI | rs797044609 |
Exac | rs797044609 |
Gnomad | rs797044609 |
Varsome | rs797044609 |
LitVar | rs797044609 |
Map | rs797044609 |
PheGenI | rs797044609 |
Biobank | rs797044609 |
1000 genomes | rs797044609 |
hgdp | rs797044609 |
ensembl | rs797044609 |
geneview | rs797044609 |
scholar | rs797044609 |
rs797044609 | |
pharmgkb | rs797044609 |
gwascentral | rs797044609 |
openSNP | rs797044609 |
23andMe | rs797044609 |
SNPshot | rs797044609 |
SNPdbe | rs797044609 |
MSV3d | rs797044609 |
GWAS Ctlg | rs797044609 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044609(TG;TG) |
Alt | rs797044609(TG;TG) |
Reference | Rs797044609(-;-) |
Significance | Probable-Pathogenic |
Disease | Cystinuria |
Variation | info |
Gene | SLC3A1 |
CLNDBN | Cystinuria |
Reversed | 0 |
HGVS | NC_000002.11:g.44531420_44531421dupTG |
CLNSRC | |
CLNACC | RCV000192842.1, |