rs113994210
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs113994210(C;G) |
Make rs113994210(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 3659855 |
Gene | CTNS, LOC105371492 |
is a | snp |
is | mentioned by |
dbSNP | rs113994210 |
dbSNP (classic) | rs113994210 |
ClinGen | rs113994210 |
ebi | rs113994210 |
HLI | rs113994210 |
Exac | rs113994210 |
Gnomad | rs113994210 |
Varsome | rs113994210 |
LitVar | rs113994210 |
Map | rs113994210 |
PheGenI | rs113994210 |
Biobank | rs113994210 |
1000 genomes | rs113994210 |
hgdp | rs113994210 |
ensembl | rs113994210 |
geneview | rs113994210 |
scholar | rs113994210 |
rs113994210 | |
pharmgkb | rs113994210 |
gwascentral | rs113994210 |
openSNP | rs113994210 |
23andMe | rs113994210 |
SNPshot | rs113994210 |
SNPdbe | rs113994210 |
MSV3d | rs113994210 |
GWAS Ctlg | rs113994210 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs113994210(G;G) |
Alt | rs113994210(G;G) |
Reference | Rs113994210(C;C) |
Significance | Pathogenic |
Disease | Cystinosis |
Variation | info |
Gene | CTNS |
CLNDBN | Cystinosis, ocular nonnephropathic |
Reversed | 0 |
HGVS | NC_000017.10:g.3563149C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004702.2, |
[PMID 10625078] Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations.