rs80051519
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs80051519(C;T) |
Make rs80051519(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 51212489 |
Gene | CYP19A1 |
is a | snp |
is | mentioned by |
dbSNP | rs80051519 |
dbSNP (classic) | rs80051519 |
ClinGen | rs80051519 |
ebi | rs80051519 |
HLI | rs80051519 |
Exac | rs80051519 |
Gnomad | rs80051519 |
Varsome | rs80051519 |
LitVar | rs80051519 |
Map | rs80051519 |
PheGenI | rs80051519 |
Biobank | rs80051519 |
1000 genomes | rs80051519 |
hgdp | rs80051519 |
ensembl | rs80051519 |
geneview | rs80051519 |
scholar | rs80051519 |
rs80051519 | |
pharmgkb | rs80051519 |
gwascentral | rs80051519 |
openSNP | rs80051519 |
23andMe | rs80051519 |
SNPshot | rs80051519 |
SNPdbe | rs80051519 |
MSV3d | rs80051519 |
GWAS Ctlg | rs80051519 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80051519(T;T) |
Alt | rs80051519(T;T) |
Reference | Rs80051519(C;C) |
Significance | Pathogenic |
Disease | Aromatase deficiency |
Variation | info |
Gene | CYP19A1 |
CLNDBN | Aromatase deficiency |
Reversed | 0 |
HGVS | NC_000015.9:g.51504686C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000019399.27, |