rs267606757
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;C) | 3 | Carrier of allele for congenital adrenal hyperplasia |
(C;C) | 5 | Congenital adrenal hyperplasia |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 32039162 |
Gene | CYP21A2 |
is a | snp |
is | mentioned by |
dbSNP | rs267606757 |
dbSNP (classic) | rs267606757 |
ClinGen | rs267606757 |
ebi | rs267606757 |
HLI | rs267606757 |
Exac | rs267606757 |
Gnomad | rs267606757 |
Varsome | rs267606757 |
LitVar | rs267606757 |
Map | rs267606757 |
PheGenI | rs267606757 |
Biobank | rs267606757 |
1000 genomes | rs267606757 |
hgdp | rs267606757 |
ensembl | rs267606757 |
geneview | rs267606757 |
scholar | rs267606757 |
rs267606757 | |
pharmgkb | rs267606757 |
gwascentral | rs267606757 |
openSNP | rs267606757 |
23andMe | rs267606757 |
SNPshot | rs267606757 |
SNPdbe | rs267606757 |
MSV3d | rs267606757 |
GWAS Ctlg | rs267606757 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | Rs267606757(C;C) |
Alt | Rs267606757(C;C) |
Reference | Rs267606757(A;A) |
Significance | Pathogenic |
Disease | 21-hydroxylase deficiency |
Variation | info |
Gene | CYP21A2 |
CLNDBN | 21-hydroxylase deficiency |
Reversed | 0 |
HGVS | NC_000006.11:g.32006939A>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012966.4, |