rs121908125
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121908125(A;A) |
Make rs121908125(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 3655304 |
Gene | CTNS, LOC105371492 |
is a | snp |
is | mentioned by |
dbSNP | rs121908125 |
dbSNP (classic) | rs121908125 |
ClinGen | rs121908125 |
ebi | rs121908125 |
HLI | rs121908125 |
Exac | rs121908125 |
Gnomad | rs121908125 |
Varsome | rs121908125 |
LitVar | rs121908125 |
Map | rs121908125 |
PheGenI | rs121908125 |
Biobank | rs121908125 |
1000 genomes | rs121908125 |
hgdp | rs121908125 |
ensembl | rs121908125 |
geneview | rs121908125 |
scholar | rs121908125 |
rs121908125 | |
pharmgkb | rs121908125 |
gwascentral | rs121908125 |
openSNP | rs121908125 |
23andMe | rs121908125 |
SNPshot | rs121908125 |
SNPdbe | rs121908125 |
MSV3d | rs121908125 |
GWAS Ctlg | rs121908125 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908125(A;A) |
Alt | rs121908125(A;A) |
Reference | Rs121908125(G;G) |
Significance | Untested |
Disease | Cystinosis |
Variation | info |
Gene | CTNS |
CLNDBN | Cystinosis |
Reversed | 0 |
HGVS | NC_000017.10:g.3558598G>A |
CLNSRC | OMIM Allelic Variant GeneReviews |
CLNACC | SCV000024868.1, SCV000024868.1, SCV000041133.1, SCV000041133.1, |