rs121434419
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121434419(A;A) |
Make rs121434419(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 95154621 |
Gene | BMPR1B |
is a | snp |
is | mentioned by |
dbSNP | rs121434419 |
dbSNP (classic) | rs121434419 |
ClinGen | rs121434419 |
ebi | rs121434419 |
HLI | rs121434419 |
Exac | rs121434419 |
Gnomad | rs121434419 |
Varsome | rs121434419 |
LitVar | rs121434419 |
Map | rs121434419 |
PheGenI | rs121434419 |
Biobank | rs121434419 |
1000 genomes | rs121434419 |
hgdp | rs121434419 |
ensembl | rs121434419 |
geneview | rs121434419 |
scholar | rs121434419 |
rs121434419 | |
pharmgkb | rs121434419 |
gwascentral | rs121434419 |
openSNP | rs121434419 |
23andMe | rs121434419 |
SNPshot | rs121434419 |
SNPdbe | rs121434419 |
MSV3d | rs121434419 |
GWAS Ctlg | rs121434419 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121434419(A;A) |
Alt | rs121434419(A;A) |
Reference | Rs121434419(G;G) |
Significance | Pathogenic |
Disease | Brachydactyly type A2 |
Variation | info |
Gene | BMPR1B |
CLNDBN | Brachydactyly type A2 |
Reversed | 0 |
HGVS | NC_000004.11:g.96075772G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000006936.4, |