rs113994204
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TATTACTATCCTTGAGCTCCC;TATTACTATCCTTGAGCTCCC) | 0 | common in clinvar |
Make rs113994204(-;-) |
Make rs113994204(-;TATTACTATCCTTGAGCTCCC) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 3648904 |
Gene | CTNS, LOC105371493 |
is a | snp |
is | mentioned by |
dbSNP | rs113994204 |
dbSNP (classic) | rs113994204 |
ClinGen | rs113994204 |
ebi | rs113994204 |
HLI | rs113994204 |
Exac | rs113994204 |
Gnomad | rs113994204 |
Varsome | rs113994204 |
LitVar | rs113994204 |
Map | rs113994204 |
PheGenI | rs113994204 |
Biobank | rs113994204 |
1000 genomes | rs113994204 |
hgdp | rs113994204 |
ensembl | rs113994204 |
geneview | rs113994204 |
scholar | rs113994204 |
rs113994204 | |
pharmgkb | rs113994204 |
gwascentral | rs113994204 |
openSNP | rs113994204 |
23andMe | rs113994204 |
SNPshot | rs113994204 |
SNPdbe | rs113994204 |
MSV3d | rs113994204 |
GWAS Ctlg | rs113994204 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs113994204(-;-) |
Alt | rs113994204(-;-) |
Reference | Rs113994204(TATTACTATCCTTGAGCTCCC;TATTACTATCCTTGAGCTCCC) |
Significance | Other |
Disease | Nephropathic cystinosis |
Variation | info |
Gene | CTNS |
CLNDBN | Nephropathic cystinosis |
Reversed | 0 |
HGVS | NC_000017.10:g.3552198_3552218del21 |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000020623.4, |