rs104894211
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs104894211(A;G) |
Make rs104894211(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 88294358 |
Gene | CTSC |
is a | snp |
is | mentioned by |
dbSNP | rs104894211 |
dbSNP (classic) | rs104894211 |
ClinGen | rs104894211 |
ebi | rs104894211 |
HLI | rs104894211 |
Exac | rs104894211 |
Gnomad | rs104894211 |
Varsome | rs104894211 |
LitVar | rs104894211 |
Map | rs104894211 |
PheGenI | rs104894211 |
Biobank | rs104894211 |
1000 genomes | rs104894211 |
hgdp | rs104894211 |
ensembl | rs104894211 |
geneview | rs104894211 |
scholar | rs104894211 |
rs104894211 | |
pharmgkb | rs104894211 |
gwascentral | rs104894211 |
openSNP | rs104894211 |
23andMe | rs104894211 |
SNPshot | rs104894211 |
SNPdbe | rs104894211 |
MSV3d | rs104894211 |
GWAS Ctlg | rs104894211 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894211(G;G) |
Alt | rs104894211(G;G) |
Reference | Rs104894211(A;A) |
Significance | Pathogenic |
Disease | Periodontitis Papillon-Lefèvre syndrome |
Variation | info |
Gene | CTSC |
CLNDBN | Periodontitis, aggressive, 1 Papillon-Lefèvre syndrome |
Reversed | 1 |
HGVS | NC_000011.9:g.88027526T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000007724.4, RCV000128617.3, |