rs199476089
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs199476089(C;C) |
Make rs199476089(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 86923442 |
Gene | BMPR1A |
is a | snp |
is | mentioned by |
dbSNP | rs199476089 |
dbSNP (classic) | rs199476089 |
ClinGen | rs199476089 |
ebi | rs199476089 |
HLI | rs199476089 |
Exac | rs199476089 |
Gnomad | rs199476089 |
Varsome | rs199476089 |
LitVar | rs199476089 |
Map | rs199476089 |
PheGenI | rs199476089 |
Biobank | rs199476089 |
1000 genomes | rs199476089 |
hgdp | rs199476089 |
ensembl | rs199476089 |
geneview | rs199476089 |
scholar | rs199476089 |
rs199476089 | |
pharmgkb | rs199476089 |
gwascentral | rs199476089 |
openSNP | rs199476089 |
23andMe | rs199476089 |
SNPshot | rs199476089 |
SNPdbe | rs199476089 |
MSV3d | rs199476089 |
GWAS Ctlg | rs199476089 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199476089(C;C) |
Alt | rs199476089(C;C) |
Reference | Rs199476089(T;T) |
Significance | Pathogenic |
Disease | Juvenile polyposis syndrome |
Variation | info |
Gene | BMPR1A |
CLNDBN | Juvenile polyposis syndrome |
Reversed | 0 |
HGVS | NC_000010.10:g.88683199T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008719.3, |