rs786204187
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;TTGCT) | 5.1 | Juvenile polyposis syndrome |
(TTGCT;TTGCT) | 0 | common in clinvar |
Make rs786204187(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 10 |
Position | 86892139 |
Gene | BMPR1A |
is a | snp |
is | mentioned by |
dbSNP | rs786204187 |
dbSNP (classic) | rs786204187 |
ClinGen | rs786204187 |
ebi | rs786204187 |
HLI | rs786204187 |
Exac | rs786204187 |
Gnomad | rs786204187 |
Varsome | rs786204187 |
LitVar | rs786204187 |
Map | rs786204187 |
PheGenI | rs786204187 |
Biobank | rs786204187 |
1000 genomes | rs786204187 |
hgdp | rs786204187 |
ensembl | rs786204187 |
geneview | rs786204187 |
scholar | rs786204187 |
rs786204187 | |
pharmgkb | rs786204187 |
gwascentral | rs786204187 |
openSNP | rs786204187 |
23andMe | rs786204187 |
SNPshot | rs786204187 |
SNPdbe | rs786204187 |
MSV3d | rs786204187 |
GWAS Ctlg | rs786204187 |
Max Magnitude | 5.1 |
ClinVar | |
---|---|
Risk | rs786204187(-;-) |
Alt | rs786204187(-;-) |
Reference | Rs786204187(TTGCT;TTGCT) |
Significance | Pathogenic |
Disease | Juvenile polyposis syndrome |
Variation | info |
Gene | BMPR1A |
CLNDBN | Juvenile polyposis syndrome |
Reversed | 0 |
HGVS | NC_000010.10:g.88651896_88651900delTTGCT |
CLNSRC | |
CLNACC | RCV000168250.2, |