rs779692470
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs779692470(C;T) |
Make rs779692470(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 160172592 |
Gene | ITGB6 |
is a | snp |
is | mentioned by |
dbSNP | rs779692470 |
dbSNP (classic) | rs779692470 |
ClinGen | rs779692470 |
ebi | rs779692470 |
HLI | rs779692470 |
Exac | rs779692470 |
Gnomad | rs779692470 |
Varsome | rs779692470 |
LitVar | rs779692470 |
Map | rs779692470 |
PheGenI | rs779692470 |
Biobank | rs779692470 |
1000 genomes | rs779692470 |
hgdp | rs779692470 |
ensembl | rs779692470 |
geneview | rs779692470 |
scholar | rs779692470 |
rs779692470 | |
pharmgkb | rs779692470 |
gwascentral | rs779692470 |
openSNP | rs779692470 |
23andMe | rs779692470 |
SNPshot | rs779692470 |
SNPdbe | rs779692470 |
MSV3d | rs779692470 |
GWAS Ctlg | rs779692470 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs779692470(T;T) |
Alt | rs779692470(T;T) |
Reference | Rs779692470(C;C) |
Significance | Pathogenic |
Disease | Adolescent alopeciam dentogingival abnormalitites and intellectual disability |
Variation | info |
Gene | ITGB6 |
CLNDBN | Adolescent alopeciam dentogingival abnormalitites and intellectual disability |
Reversed | 0 |
HGVS | NC_000002.11:g.161029103C>T |
CLNSRC | |
CLNACC | RCV000201256.1, |