rs387907357
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs387907357(-;AACA) |
Make rs387907357(AACA;AACA) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 48981476 |
Gene | WNT1 |
is a | snp |
is | mentioned by |
dbSNP | rs387907357 |
dbSNP (classic) | rs387907357 |
ClinGen | rs387907357 |
ebi | rs387907357 |
HLI | rs387907357 |
Exac | rs387907357 |
Gnomad | rs387907357 |
Varsome | rs387907357 |
LitVar | rs387907357 |
Map | rs387907357 |
PheGenI | rs387907357 |
Biobank | rs387907357 |
1000 genomes | rs387907357 |
hgdp | rs387907357 |
ensembl | rs387907357 |
geneview | rs387907357 |
scholar | rs387907357 |
rs387907357 | |
pharmgkb | rs387907357 |
gwascentral | rs387907357 |
openSNP | rs387907357 |
23andMe | rs387907357 |
SNPshot | rs387907357 |
SNPdbe | rs387907357 |
MSV3d | rs387907357 |
GWAS Ctlg | rs387907357 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387907357(AACA;AACA) |
Alt | rs387907357(AACA;AACA) |
Reference | Rs387907357(-;-) |
Significance | Pathogenic |
Disease | Osteogenesis imperfecta |
Variation | info |
Gene | WNT1 |
CLNDBN | Osteogenesis imperfecta, type xv |
Reversed | 0 |
HGVS | NC_000012.11:g.49375256_49375259dupAACA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000043496.29, |