rs217116
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs217116(A;G) |
Make rs217116(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 88300493 |
Gene | CTSC |
is a | snp |
is | mentioned by |
dbSNP | rs217116 |
dbSNP (classic) | rs217116 |
ClinGen | rs217116 |
ebi | rs217116 |
HLI | rs217116 |
Exac | rs217116 |
Gnomad | rs217116 |
Varsome | rs217116 |
LitVar | rs217116 |
Map | rs217116 |
PheGenI | rs217116 |
Biobank | rs217116 |
1000 genomes | rs217116 |
hgdp | rs217116 |
ensembl | rs217116 |
geneview | rs217116 |
scholar | rs217116 |
rs217116 | |
pharmgkb | rs217116 |
gwascentral | rs217116 |
openSNP | rs217116 |
23andMe | rs217116 |
SNPshot | rs217116 |
SNPdbe | rs217116 |
MSV3d | rs217116 |
GWAS Ctlg | rs217116 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 26205983] One mutation, two phenotypes: a single nonsense mutation of the CTSC gene causes two clinically distinct phenotypes
ClinVar | |
---|---|
Risk | rs217116(C;C) rs217116(G;G) rs217116(T;T) |
Alt | rs217116(C;C) rs217116(G;G) rs217116(T;T) |
Reference | Rs217116(A;A) |
Significance | Non-pathogenic |
Disease | not specified |
Variation | info |
Gene | CTSC |
CLNDBN | not specified |
Reversed | 0 |
HGVS | NC_000011.9:g.88033661A>G |
CLNSRC | |
CLNACC | RCV000249266.1, |