rs9378252
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;T) | 1 | benign |
(T;T) | 1 | benign |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 32038610 |
Gene | CYP21A2 |
is a | snp |
is | mentioned by |
dbSNP | rs9378252 |
dbSNP (classic) | rs9378252 |
ClinGen | rs9378252 |
ebi | rs9378252 |
HLI | rs9378252 |
Exac | rs9378252 |
Gnomad | rs9378252 |
Varsome | rs9378252 |
LitVar | rs9378252 |
Map | rs9378252 |
PheGenI | rs9378252 |
Biobank | rs9378252 |
1000 genomes | rs9378252 |
hgdp | rs9378252 |
ensembl | rs9378252 |
geneview | rs9378252 |
scholar | rs9378252 |
rs9378252 | |
pharmgkb | rs9378252 |
gwascentral | rs9378252 |
openSNP | rs9378252 |
23andMe | rs9378252 |
SNPshot | rs9378252 |
SNPdbe | rs9378252 |
MSV3d | rs9378252 |
GWAS Ctlg | rs9378252 |
Max Magnitude | 1 |
ClinVar | |
---|---|
Risk | Rs9378252(T;T) |
Alt | Rs9378252(T;T) |
Reference | Rs9378252(A;A) |
Significance | Pathogenic |
Disease | 21-hydroxylase deficiency not specified |
Variation | info |
Gene | CYP21A2 |
CLNDBN | 21-hydroxylase deficiency not specified |
Reversed | 0 |
HGVS | NC_000006.11:g.32006387A>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012965.3, RCV000173141.1, |