rs587776655
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs587776655(-;-) |
Make rs587776655(-;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 88294351 |
Gene | CTSC |
is a | snp |
is | mentioned by |
dbSNP | rs587776655 |
dbSNP (classic) | rs587776655 |
ClinGen | rs587776655 |
ebi | rs587776655 |
HLI | rs587776655 |
Exac | rs587776655 |
Gnomad | rs587776655 |
Varsome | rs587776655 |
LitVar | rs587776655 |
Map | rs587776655 |
PheGenI | rs587776655 |
Biobank | rs587776655 |
1000 genomes | rs587776655 |
hgdp | rs587776655 |
ensembl | rs587776655 |
geneview | rs587776655 |
scholar | rs587776655 |
rs587776655 | |
pharmgkb | rs587776655 |
gwascentral | rs587776655 |
openSNP | rs587776655 |
23andMe | rs587776655 |
SNPshot | rs587776655 |
SNPdbe | rs587776655 |
MSV3d | rs587776655 |
GWAS Ctlg | rs587776655 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776655(-;-) |
Alt | rs587776655(-;-) |
Reference | Rs587776655(T;T) |
Significance | Pathogenic |
Disease | Papillon-Lefèvre syndrome |
Variation | info |
Gene | CTSC |
CLNDBN | Papillon-Lefèvre syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.88027519delT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007716.4, |