rs201502095
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs201502095(C;T) |
Make rs201502095(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 2 |
Position | 44312607 |
Gene | SLC3A1 |
is a | snp |
is | mentioned by |
dbSNP | rs201502095 |
dbSNP (classic) | rs201502095 |
ClinGen | rs201502095 |
ebi | rs201502095 |
HLI | rs201502095 |
Exac | rs201502095 |
Gnomad | rs201502095 |
Varsome | rs201502095 |
LitVar | rs201502095 |
Map | rs201502095 |
PheGenI | rs201502095 |
Biobank | rs201502095 |
1000 genomes | rs201502095 |
hgdp | rs201502095 |
ensembl | rs201502095 |
geneview | rs201502095 |
scholar | rs201502095 |
rs201502095 | |
pharmgkb | rs201502095 |
gwascentral | rs201502095 |
openSNP | rs201502095 |
23andMe | rs201502095 |
SNPshot | rs201502095 |
SNPdbe | rs201502095 |
MSV3d | rs201502095 |
GWAS Ctlg | rs201502095 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201502095(G;G) rs201502095(T;T) |
Alt | rs201502095(G;G) rs201502095(T;T) |
Reference | Rs201502095(C;C) |
Significance | Probable-Pathogenic |
Disease | Cystinuria |
Variation | info |
Gene | SLC3A1 |
CLNDBN | Cystinuria |
Reversed | 0 |
HGVS | NC_000002.11:g.44539746C>T |
CLNSRC | Illumina |
CLNACC | RCV000402894.1, |