rs886040970
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs886040970(A;T) |
Make rs886040970(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 17 |
Position | 3655288 |
Gene | CTNS, LOC105371492 |
is a | snp |
is | mentioned by |
dbSNP | rs886040970 |
dbSNP (classic) | rs886040970 |
ClinGen | rs886040970 |
ebi | rs886040970 |
HLI | rs886040970 |
Exac | rs886040970 |
Gnomad | rs886040970 |
Varsome | rs886040970 |
LitVar | rs886040970 |
Map | rs886040970 |
PheGenI | rs886040970 |
Biobank | rs886040970 |
1000 genomes | rs886040970 |
hgdp | rs886040970 |
ensembl | rs886040970 |
geneview | rs886040970 |
scholar | rs886040970 |
rs886040970 | |
pharmgkb | rs886040970 |
gwascentral | rs886040970 |
openSNP | rs886040970 |
23andMe | rs886040970 |
SNPshot | rs886040970 |
SNPdbe | rs886040970 |
MSV3d | rs886040970 |
GWAS Ctlg | rs886040970 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886040970(T;T) |
Alt | rs886040970(T;T) |
Reference | Rs886040970(A;A) |
Significance | Pathogenic |
Disease | Cystinosis |
Variation | info |
Gene | CTNS |
CLNDBN | Cystinosis |
Reversed | 0 |
HGVS | NC_000017.10:g.3558582A>T |
CLNSRC | |
CLNACC | RCV000258024.1, |