rs879255614
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CT;CT) | 0 | common in clinvar |
Make rs879255614(-;-) |
Make rs879255614(-;CT) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 17 |
Position | 3655029 |
Gene | CTNS, LOC105371492 |
is a | snp |
is | mentioned by |
dbSNP | rs879255614 |
dbSNP (classic) | rs879255614 |
ClinGen | rs879255614 |
ebi | rs879255614 |
HLI | rs879255614 |
Exac | rs879255614 |
Gnomad | rs879255614 |
Varsome | rs879255614 |
LitVar | rs879255614 |
Map | rs879255614 |
PheGenI | rs879255614 |
Biobank | rs879255614 |
1000 genomes | rs879255614 |
hgdp | rs879255614 |
ensembl | rs879255614 |
geneview | rs879255614 |
scholar | rs879255614 |
rs879255614 | |
pharmgkb | rs879255614 |
gwascentral | rs879255614 |
openSNP | rs879255614 |
23andMe | rs879255614 |
SNPshot | rs879255614 |
SNPdbe | rs879255614 |
MSV3d | rs879255614 |
GWAS Ctlg | rs879255614 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879255614(-;-) |
Alt | rs879255614(-;-) |
Reference | Rs879255614(CT;CT) |
Significance | Pathogenic |
Disease | Cystinosis |
Variation | info |
Gene | CTNS |
CLNDBN | Cystinosis |
Reversed | 0 |
HGVS | NC_000017.10:g.3558323_3558324delCT |
CLNSRC | |
CLNACC | RCV000239629.1, |