rs121912767
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121912767(C;G) |
Make rs121912767(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 53951951 |
Gene | BMP4 |
is a | snp |
is | mentioned by |
dbSNP | rs121912767 |
dbSNP (classic) | rs121912767 |
ClinGen | rs121912767 |
ebi | rs121912767 |
HLI | rs121912767 |
Exac | rs121912767 |
Gnomad | rs121912767 |
Varsome | rs121912767 |
LitVar | rs121912767 |
Map | rs121912767 |
PheGenI | rs121912767 |
Biobank | rs121912767 |
1000 genomes | rs121912767 |
hgdp | rs121912767 |
ensembl | rs121912767 |
geneview | rs121912767 |
scholar | rs121912767 |
rs121912767 | |
pharmgkb | rs121912767 |
gwascentral | rs121912767 |
openSNP | rs121912767 |
23andMe | rs121912767 |
SNPshot | rs121912767 |
SNPdbe | rs121912767 |
MSV3d | rs121912767 |
GWAS Ctlg | rs121912767 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121912767(G;G) |
Alt | rs121912767(G;G) |
Reference | Rs121912767(C;C) |
Significance | Pathogenic |
Disease | Orofacial cleft 11 |
Variation | info |
Gene | BMP4 |
CLNDBN | Orofacial cleft 11 |
Reversed | 1 |
HGVS | NC_000014.8:g.54418669G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000019277.28, |