rs113994208
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | Carrier of a cystinosis mutation |
(G;G) | 0 | common in clinvar |
Make rs113994208(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 3656727 |
Gene | CTNS, LOC105371492 |
is a | snp |
is | mentioned by |
dbSNP | rs113994208 |
dbSNP (classic) | rs113994208 |
ClinGen | rs113994208 |
ebi | rs113994208 |
HLI | rs113994208 |
Exac | rs113994208 |
Gnomad | rs113994208 |
Varsome | rs113994208 |
LitVar | rs113994208 |
Map | rs113994208 |
PheGenI | rs113994208 |
Biobank | rs113994208 |
1000 genomes | rs113994208 |
hgdp | rs113994208 |
ensembl | rs113994208 |
geneview | rs113994208 |
scholar | rs113994208 |
rs113994208 | |
pharmgkb | rs113994208 |
gwascentral | rs113994208 |
openSNP | rs113994208 |
23andMe | rs113994208 |
SNPshot | rs113994208 |
SNPdbe | rs113994208 |
MSV3d | rs113994208 |
GWAS Ctlg | rs113994208 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs113994208(A;A) |
Alt | rs113994208(A;A) |
Reference | Rs113994208(G;G) |
Significance | Pathogenic |
Disease | Nephropathic cystinosis |
Variation | info |
Gene | CTNS |
CLNDBN | Nephropathic cystinosis |
Reversed | 0 |
HGVS | NC_000017.10:g.3560021G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000020625.2, |