rs587782682
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 5.1 | Juvenile polyposis syndrome |
Make rs587782682(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 10 |
Position | 86917140 |
Gene | BMPR1A |
is a | snp |
is | mentioned by |
dbSNP | rs587782682 |
dbSNP (classic) | rs587782682 |
ClinGen | rs587782682 |
ebi | rs587782682 |
HLI | rs587782682 |
Exac | rs587782682 |
Gnomad | rs587782682 |
Varsome | rs587782682 |
LitVar | rs587782682 |
Map | rs587782682 |
PheGenI | rs587782682 |
Biobank | rs587782682 |
1000 genomes | rs587782682 |
hgdp | rs587782682 |
ensembl | rs587782682 |
geneview | rs587782682 |
scholar | rs587782682 |
rs587782682 | |
pharmgkb | rs587782682 |
gwascentral | rs587782682 |
openSNP | rs587782682 |
23andMe | rs587782682 |
SNPshot | rs587782682 |
SNPdbe | rs587782682 |
MSV3d | rs587782682 |
GWAS Ctlg | rs587782682 |
Max Magnitude | 5.1 |
ClinVar | |
---|---|
Risk | rs587782682(A;A) rs587782682(T;T) |
Alt | rs587782682(A;A) rs587782682(T;T) |
Reference | Rs587782682(C;C) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Juvenile polyposis syndrome |
Variation | info |
Gene | BMPR1A |
CLNDBN | Hereditary cancer-predisposing syndrome Juvenile polyposis syndrome |
Reversed | 0 |
HGVS | NC_000010.10:g.88676897C>A; NC_000010.10:g.88676897C>T |
CLNSRC | |
CLNACC | RCV000163613.2, RCV000458633.1, RCV000132109.5, RCV000475579.1, |