rs587777532
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
(T;T) | 0 | common in clinvar |
(TG;TG) | 0 | common in clinvar |
Make rs587777532(-;-) |
Make rs587777532(-;A) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 88294342 |
Gene | CTSC |
is a | snp |
is | mentioned by |
dbSNP | rs587777532 |
dbSNP (classic) | rs587777532 |
ClinGen | rs587777532 |
ebi | rs587777532 |
HLI | rs587777532 |
Exac | rs587777532 |
Gnomad | rs587777532 |
Varsome | rs587777532 |
LitVar | rs587777532 |
Map | rs587777532 |
PheGenI | rs587777532 |
Biobank | rs587777532 |
1000 genomes | rs587777532 |
hgdp | rs587777532 |
ensembl | rs587777532 |
geneview | rs587777532 |
scholar | rs587777532 |
rs587777532 | |
pharmgkb | rs587777532 |
gwascentral | rs587777532 |
openSNP | rs587777532 |
23andMe | rs587777532 |
SNPshot | rs587777532 |
SNPdbe | rs587777532 |
MSV3d | rs587777532 |
GWAS Ctlg | rs587777532 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587777532(A;A) rs587777532(-;-) |
Alt | Rs587777532(A;A) rs587777532(-;-) |
Reference | Rs587777532(T;T) |
Significance | Pathogenic |
Disease | Papillon-Lefèvre syndrome |
Variation | info |
Gene | CTSC |
CLNDBN | Papillon-Lefèvre syndrome |
Reversed | 1 |
HGVS | NC_000011.9:g.88027510delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000128618.4, |