rs727505392
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs727505392(-;-) |
Make rs727505392(-;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 12 |
Position | 48981552 |
Gene | WNT1 |
is a | snp |
is | mentioned by |
dbSNP | rs727505392 |
dbSNP (classic) | rs727505392 |
ClinGen | rs727505392 |
ebi | rs727505392 |
HLI | rs727505392 |
Exac | rs727505392 |
Gnomad | rs727505392 |
Varsome | rs727505392 |
LitVar | rs727505392 |
Map | rs727505392 |
PheGenI | rs727505392 |
Biobank | rs727505392 |
1000 genomes | rs727505392 |
hgdp | rs727505392 |
ensembl | rs727505392 |
geneview | rs727505392 |
scholar | rs727505392 |
rs727505392 | |
pharmgkb | rs727505392 |
gwascentral | rs727505392 |
openSNP | rs727505392 |
23andMe | rs727505392 |
SNPshot | rs727505392 |
SNPdbe | rs727505392 |
MSV3d | rs727505392 |
GWAS Ctlg | rs727505392 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727505392(-;-) |
Alt | rs727505392(-;-) |
Reference | Rs727505392(C;C) |
Significance | Pathogenic |
Disease | Osteogenesis imperfecta |
Variation | info |
Gene | WNT1 |
CLNDBN | Osteogenesis imperfecta, type xv |
Reversed | 0 |
HGVS | NC_000012.11:g.49375335delC |
CLNSRC | |
CLNACC | RCV000157063.2, |