rs879255616
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs879255616(-;-) |
Make rs879255616(-;C) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 17 |
Position | 3647502 |
Gene | CTNS, LOC105371493 |
is a | snp |
is | mentioned by |
dbSNP | rs879255616 |
dbSNP (classic) | rs879255616 |
ClinGen | rs879255616 |
ebi | rs879255616 |
HLI | rs879255616 |
Exac | rs879255616 |
Gnomad | rs879255616 |
Varsome | rs879255616 |
LitVar | rs879255616 |
Map | rs879255616 |
PheGenI | rs879255616 |
Biobank | rs879255616 |
1000 genomes | rs879255616 |
hgdp | rs879255616 |
ensembl | rs879255616 |
geneview | rs879255616 |
scholar | rs879255616 |
rs879255616 | |
pharmgkb | rs879255616 |
gwascentral | rs879255616 |
openSNP | rs879255616 |
23andMe | rs879255616 |
SNPshot | rs879255616 |
SNPdbe | rs879255616 |
MSV3d | rs879255616 |
GWAS Ctlg | rs879255616 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879255616(-;-) |
Alt | rs879255616(-;-) |
Reference | Rs879255616(C;C) |
Significance | Pathogenic |
Disease | Cystinosis |
Variation | info |
Gene | CTNS |
CLNDBN | Cystinosis |
Reversed | 0 |
HGVS | NC_000017.10:g.3550796delC |
CLNSRC | |
CLNACC | RCV000239634.1, |