rs863225041
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs863225041(C;C) |
Make rs863225041(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 4 |
Position | 95114733 |
Gene | BMPR1B |
is a | snp |
is | mentioned by |
dbSNP | rs863225041 |
dbSNP (classic) | rs863225041 |
ClinGen | rs863225041 |
ebi | rs863225041 |
HLI | rs863225041 |
Exac | rs863225041 |
Gnomad | rs863225041 |
Varsome | rs863225041 |
LitVar | rs863225041 |
Map | rs863225041 |
PheGenI | rs863225041 |
Biobank | rs863225041 |
1000 genomes | rs863225041 |
hgdp | rs863225041 |
ensembl | rs863225041 |
geneview | rs863225041 |
scholar | rs863225041 |
rs863225041 | |
pharmgkb | rs863225041 |
gwascentral | rs863225041 |
openSNP | rs863225041 |
23andMe | rs863225041 |
SNPshot | rs863225041 |
SNPdbe | rs863225041 |
MSV3d | rs863225041 |
GWAS Ctlg | rs863225041 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863225041(C;C) |
Alt | rs863225041(C;C) |
Reference | Rs863225041(T;T) |
Significance | Pathogenic |
Disease | Chondrodysplasia acromesomelic with genital anomalies |
Variation | info |
Gene | BMPR1B |
CLNDBN | Chondrodysplasia acromesomelic with genital anomalies |
Reversed | 0 |
HGVS | NC_000004.11:g.96035884T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000201167.2, |