rs786204632
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CCT;CCT) | 0 | common in clinvar |
(CTC;CTC) | 0 | common in clinvar |
Make rs786204632(-;-) |
Make rs786204632(-;CCT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 3658132 |
Gene | CTNS, LOC105371492 |
is a | snp |
is | mentioned by |
dbSNP | rs786204632 |
dbSNP (classic) | rs786204632 |
ClinGen | rs786204632 |
ebi | rs786204632 |
HLI | rs786204632 |
Exac | rs786204632 |
Gnomad | rs786204632 |
Varsome | rs786204632 |
LitVar | rs786204632 |
Map | rs786204632 |
PheGenI | rs786204632 |
Biobank | rs786204632 |
1000 genomes | rs786204632 |
hgdp | rs786204632 |
ensembl | rs786204632 |
geneview | rs786204632 |
scholar | rs786204632 |
rs786204632 | |
pharmgkb | rs786204632 |
gwascentral | rs786204632 |
openSNP | rs786204632 |
23andMe | rs786204632 |
SNPshot | rs786204632 |
SNPdbe | rs786204632 |
MSV3d | rs786204632 |
GWAS Ctlg | rs786204632 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204632(-;-) Rs786204632(CTC;CTC) |
Alt | rs786204632(-;-) Rs786204632(CTC;CTC) |
Reference | Rs786204632(CCT;CCT) |
Significance | Probable-Pathogenic |
Disease | Nephropathic cystinosis |
Variation | info |
Gene | CTNS |
CLNDBN | Nephropathic cystinosis |
Reversed | 0 |
HGVS | NC_000017.10:g.3561426_3561428delCCT |
CLNSRC | |
CLNACC | RCV000169407.1, |