rs759647230
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs759647230(C;T) |
Make rs759647230(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 10 |
Position | 86892142 |
Gene | BMPR1A |
is a | snp |
is | mentioned by |
dbSNP | rs759647230 |
dbSNP (classic) | rs759647230 |
ClinGen | rs759647230 |
ebi | rs759647230 |
HLI | rs759647230 |
Exac | rs759647230 |
Gnomad | rs759647230 |
Varsome | rs759647230 |
LitVar | rs759647230 |
Map | rs759647230 |
PheGenI | rs759647230 |
Biobank | rs759647230 |
1000 genomes | rs759647230 |
hgdp | rs759647230 |
ensembl | rs759647230 |
geneview | rs759647230 |
scholar | rs759647230 |
rs759647230 | |
pharmgkb | rs759647230 |
gwascentral | rs759647230 |
openSNP | rs759647230 |
23andMe | rs759647230 |
SNPshot | rs759647230 |
SNPdbe | rs759647230 |
MSV3d | rs759647230 |
GWAS Ctlg | rs759647230 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs759647230(A;A) rs759647230(T;T) |
Alt | rs759647230(A;A) rs759647230(T;T) |
Reference | Rs759647230(C;C) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BMPR1A |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000010.10:g.88651899C>A |
CLNSRC | |
CLNACC | RCV000214108.1, |