rs587776654
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(G;G) | 0 | common in clinvar |
Make rs587776654(C;T) |
Make rs587776654(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 88294509 |
Gene | CTSC |
is a | snp |
is | mentioned by |
dbSNP | rs587776654 |
dbSNP (classic) | rs587776654 |
ClinGen | rs587776654 |
ebi | rs587776654 |
HLI | rs587776654 |
Exac | rs587776654 |
Gnomad | rs587776654 |
Varsome | rs587776654 |
LitVar | rs587776654 |
Map | rs587776654 |
PheGenI | rs587776654 |
Biobank | rs587776654 |
1000 genomes | rs587776654 |
hgdp | rs587776654 |
ensembl | rs587776654 |
geneview | rs587776654 |
scholar | rs587776654 |
rs587776654 | |
pharmgkb | rs587776654 |
gwascentral | rs587776654 |
openSNP | rs587776654 |
23andMe | rs587776654 |
SNPshot | rs587776654 |
SNPdbe | rs587776654 |
MSV3d | rs587776654 |
GWAS Ctlg | rs587776654 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587776654(C;C) rs587776654(T;T) |
Alt | Rs587776654(C;C) rs587776654(T;T) |
Reference | Rs587776654(G;G) |
Significance | Pathogenic |
Disease | Papillon-Lefèvre syndrome |
Variation | info |
Gene | CTSC |
CLNDBN | Papillon-Lefèvre syndrome |
Reversed | 1 |
HGVS | NC_000011.9:g.88027677C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007713.5, |