rs606231351
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs606231351(-;-) |
Make rs606231351(-;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 53613681 |
Gene | WDR72 |
is a | snp |
is | mentioned by |
dbSNP | rs606231351 |
dbSNP (classic) | rs606231351 |
ClinGen | rs606231351 |
ebi | rs606231351 |
HLI | rs606231351 |
Exac | rs606231351 |
Gnomad | rs606231351 |
Varsome | rs606231351 |
LitVar | rs606231351 |
Map | rs606231351 |
PheGenI | rs606231351 |
Biobank | rs606231351 |
1000 genomes | rs606231351 |
hgdp | rs606231351 |
ensembl | rs606231351 |
geneview | rs606231351 |
scholar | rs606231351 |
rs606231351 | |
pharmgkb | rs606231351 |
gwascentral | rs606231351 |
openSNP | rs606231351 |
23andMe | rs606231351 |
SNPshot | rs606231351 |
SNPdbe | rs606231351 |
MSV3d | rs606231351 |
GWAS Ctlg | rs606231351 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231351(-;-) |
Alt | rs606231351(-;-) |
Reference | Rs606231351(A;A) |
Significance | Pathogenic |
Disease | Amelogenesis imperfecta |
Variation | info |
Gene | WDR72 |
CLNDBN | Amelogenesis imperfecta, hypomaturation type, IIA3 |
Reversed | 1 |
HGVS | NC_000015.9:g.53905878delT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000257.3, |