rs199474831
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs199474831(G;G) |
Make rs199474831(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 88335052 |
Gene | CTSC |
is a | snp |
is | mentioned by |
dbSNP | rs199474831 |
dbSNP (classic) | rs199474831 |
ClinGen | rs199474831 |
ebi | rs199474831 |
HLI | rs199474831 |
Exac | rs199474831 |
Gnomad | rs199474831 |
Varsome | rs199474831 |
LitVar | rs199474831 |
Map | rs199474831 |
PheGenI | rs199474831 |
Biobank | rs199474831 |
1000 genomes | rs199474831 |
hgdp | rs199474831 |
ensembl | rs199474831 |
geneview | rs199474831 |
scholar | rs199474831 |
rs199474831 | |
pharmgkb | rs199474831 |
gwascentral | rs199474831 |
openSNP | rs199474831 |
23andMe | rs199474831 |
SNPshot | rs199474831 |
SNPdbe | rs199474831 |
MSV3d | rs199474831 |
GWAS Ctlg | rs199474831 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199474831(G;G) |
Alt | rs199474831(G;G) |
Reference | Rs199474831(T;T) |
Significance | Probable-Pathogenic |
Disease | Papillon-Lefà ¨ vre syndrome |
Variation | info |
Gene | CTSC |
CLNDBN | Papillon-Lefà ¨ vre syndrome |
Reversed | 1 |
HGVS | NC_000011.9:g.88068220A>C |
CLNSRC | |
CLNACC |