rs763089013
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs763089013(A;A) |
Make rs763089013(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 17 |
Position | 3658057 |
Gene | CTNS, LOC105371492 |
is a | snp |
is | mentioned by |
dbSNP | rs763089013 |
dbSNP (classic) | rs763089013 |
ClinGen | rs763089013 |
ebi | rs763089013 |
HLI | rs763089013 |
Exac | rs763089013 |
Gnomad | rs763089013 |
Varsome | rs763089013 |
LitVar | rs763089013 |
Map | rs763089013 |
PheGenI | rs763089013 |
Biobank | rs763089013 |
1000 genomes | rs763089013 |
hgdp | rs763089013 |
ensembl | rs763089013 |
geneview | rs763089013 |
scholar | rs763089013 |
rs763089013 | |
pharmgkb | rs763089013 |
gwascentral | rs763089013 |
openSNP | rs763089013 |
23andMe | rs763089013 |
SNPshot | rs763089013 |
SNPdbe | rs763089013 |
MSV3d | rs763089013 |
GWAS Ctlg | rs763089013 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs763089013(A;A) rs763089013(C;C) |
Alt | rs763089013(A;A) rs763089013(C;C) |
Reference | Rs763089013(G;G) |
Significance | Probable-Pathogenic |
Disease | Nephropathic cystinosis |
Variation | info |
Gene | CTNS |
CLNDBN | Nephropathic cystinosis |
Reversed | 0 |
HGVS | NC_000017.10:g.3561351G>A |
CLNSRC | |
CLNACC | RCV000411177.1, |