rs151344530
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs151344530(C;C) |
Make rs151344530(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 10404511 |
Gene | TFAP2A |
is a | snp |
is | mentioned by |
dbSNP | rs151344530 |
dbSNP (classic) | rs151344530 |
ClinGen | rs151344530 |
ebi | rs151344530 |
HLI | rs151344530 |
Exac | rs151344530 |
Gnomad | rs151344530 |
Varsome | rs151344530 |
LitVar | rs151344530 |
Map | rs151344530 |
PheGenI | rs151344530 |
Biobank | rs151344530 |
1000 genomes | rs151344530 |
hgdp | rs151344530 |
ensembl | rs151344530 |
geneview | rs151344530 |
scholar | rs151344530 |
rs151344530 | |
pharmgkb | rs151344530 |
gwascentral | rs151344530 |
openSNP | rs151344530 |
23andMe | rs151344530 |
SNPshot | rs151344530 |
SNPdbe | rs151344530 |
MSV3d | rs151344530 |
GWAS Ctlg | rs151344530 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs151344530(C;C) |
Alt | rs151344530(C;C) |
Reference | Rs151344530(G;G) |
Significance | Pathogenic |
Disease | Branchiooculofacial syndrome |
Variation | info |
Gene | TFAP2A |
CLNDBN | Branchiooculofacial syndrome |
Reversed | 1 |
HGVS | NC_000006.11:g.10404744C>G |
CLNSRC | |
CLNACC |