rs786205109
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs786205109(A;A) |
Make rs786205109(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 51236858 |
Gene | CYP19A1 |
is a | snp |
is | mentioned by |
dbSNP | rs786205109 |
dbSNP (classic) | rs786205109 |
ClinGen | rs786205109 |
ebi | rs786205109 |
HLI | rs786205109 |
Exac | rs786205109 |
Gnomad | rs786205109 |
Varsome | rs786205109 |
LitVar | rs786205109 |
Map | rs786205109 |
PheGenI | rs786205109 |
Biobank | rs786205109 |
1000 genomes | rs786205109 |
hgdp | rs786205109 |
ensembl | rs786205109 |
geneview | rs786205109 |
scholar | rs786205109 |
rs786205109 | |
pharmgkb | rs786205109 |
gwascentral | rs786205109 |
openSNP | rs786205109 |
23andMe | rs786205109 |
SNPshot | rs786205109 |
SNPdbe | rs786205109 |
MSV3d | rs786205109 |
GWAS Ctlg | rs786205109 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205109(A;A) |
Alt | rs786205109(A;A) |
Reference | Rs786205109(G;G) |
Significance | Pathogenic |
Disease | Aromatase deficiency |
Variation | info |
Gene | CYP19A1 |
CLNDBN | Aromatase deficiency |
Reversed | 1 |
HGVS | NC_000015.9:g.51529055C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000019398.24, |