rs6471
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
(G;T) | 3 | Carrier of allele for congenital adrenal hyperplasia |
(T;T) | 5 | Congenital adrenal hyperplasia |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 32040110 |
Gene | CYP21A2 |
is a | snp |
is | mentioned by |
dbSNP | rs6471 |
dbSNP (classic) | rs6471 |
ClinGen | rs6471 |
ebi | rs6471 |
HLI | rs6471 |
Exac | rs6471 |
Gnomad | rs6471 |
Varsome | rs6471 |
LitVar | rs6471 |
Map | rs6471 |
PheGenI | rs6471 |
Biobank | rs6471 |
1000 genomes | rs6471 |
hgdp | rs6471 |
ensembl | rs6471 |
geneview | rs6471 |
scholar | rs6471 |
rs6471 | |
pharmgkb | rs6471 |
gwascentral | rs6471 |
openSNP | rs6471 |
23andMe | rs6471 |
SNPshot | rs6471 |
SNPdbe | rs6471 |
MSV3d | rs6471 |
GWAS Ctlg | rs6471 |
Max Magnitude | 5 |
aka c.844G>T, p.Val282Leu and V282L; also known in older literature as Val281Leu or V281L
associated with non-classic 21-OH CAH; see GeneReviews as well as OMIM
[PMID 20617557] Functional polymorphisms in the CYP3A4, CYP3A5, and CYP21A2 genes in the risk for hypertension in pregnancy
[PMID 20685352] Functional polymorphisms in the CYP3A4, CYP3A5, and CYP21A2 genes in the risk for hypertension in pregnancy
ClinVar | |
---|---|
Risk | rs6471(A;A) rs6471(C;C) Rs6471(T;T) |
Alt | rs6471(A;A) rs6471(C;C) Rs6471(T;T) |
Reference | Rs6471(G;G) |
Significance | Pathogenic |
Disease | 21-hydroxylase deficiency Adenoma Carcinoma Inborn genetic diseases |
Variation | info |
Gene | CYP21A2 |
CLNDBN | 21-hydroxylase deficiency Adenoma, cortisol-producing Carcinoma, adrenocortical, androgen-secreting Inborn genetic diseases |
Reversed | 0 |
HGVS | NC_000006.11:g.32007887G>C; NC_000006.11:g.32007887G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000055820.1, RCV000012934.3, RCV000012935.2, RCV000012936.2, RCV000210728.1, RCV000417198.1, |