rs77576840
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs77576840(C;T) |
Make rs77576840(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 133639848 |
Gene | DBH |
is a | snp |
is | mentioned by |
dbSNP | rs77576840 |
dbSNP (classic) | rs77576840 |
ClinGen | rs77576840 |
ebi | rs77576840 |
HLI | rs77576840 |
Exac | rs77576840 |
Gnomad | rs77576840 |
Varsome | rs77576840 |
LitVar | rs77576840 |
Map | rs77576840 |
PheGenI | rs77576840 |
Biobank | rs77576840 |
1000 genomes | rs77576840 |
hgdp | rs77576840 |
ensembl | rs77576840 |
geneview | rs77576840 |
scholar | rs77576840 |
rs77576840 | |
pharmgkb | rs77576840 |
gwascentral | rs77576840 |
openSNP | rs77576840 |
23andMe | rs77576840 |
SNPshot | rs77576840 |
SNPdbe | rs77576840 |
MSV3d | rs77576840 |
GWAS Ctlg | rs77576840 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs77576840(A;A) rs77576840(T;T) |
Alt | rs77576840(A;A) rs77576840(T;T) |
Reference | Rs77576840(C;C) |
Significance | Pathogenic |
Disease | Dopamine beta hydroxylase deficiency |
Variation | info |
Gene | DBH |
CLNDBN | Dopamine beta hydroxylase deficiency |
Reversed | 0 |
HGVS | NC_000009.11:g.136504970C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000001821.4, |