rs80338914
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs80338914(A;A) |
Make rs80338914(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 50837977 |
Gene | TFAP2B |
is a | snp |
is | mentioned by |
dbSNP | rs80338914 |
dbSNP (classic) | rs80338914 |
ClinGen | rs80338914 |
ebi | rs80338914 |
HLI | rs80338914 |
Exac | rs80338914 |
Gnomad | rs80338914 |
Varsome | rs80338914 |
LitVar | rs80338914 |
Map | rs80338914 |
PheGenI | rs80338914 |
Biobank | rs80338914 |
1000 genomes | rs80338914 |
hgdp | rs80338914 |
ensembl | rs80338914 |
geneview | rs80338914 |
scholar | rs80338914 |
rs80338914 | |
pharmgkb | rs80338914 |
gwascentral | rs80338914 |
openSNP | rs80338914 |
23andMe | rs80338914 |
SNPshot | rs80338914 |
SNPdbe | rs80338914 |
MSV3d | rs80338914 |
GWAS Ctlg | rs80338914 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80338914(A;A) |
Alt | rs80338914(A;A) |
Reference | Rs80338914(C;C) |
Significance | Pathogenic |
Disease | Char syndrome |
Variation | info |
Gene | TFAP2B |
CLNDBN | Char syndrome |
Reversed | 0 |
HGVS | NC_000006.11:g.50805690C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008505.3, |
[PMID 10802654] Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.