rs6475
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 5 | Congenital adrenal hyperplasia |
(A;T) | 3 | Carrier of allele for congenital adrenal hyperplasia |
(T;T) | 0 | common in complete genomics |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 32039426 |
Gene | CYP21A2 |
is a | snp |
is | mentioned by |
dbSNP | rs6475 |
dbSNP (classic) | rs6475 |
ClinGen | rs6475 |
ebi | rs6475 |
HLI | rs6475 |
Exac | rs6475 |
Gnomad | rs6475 |
Varsome | rs6475 |
LitVar | rs6475 |
Map | rs6475 |
PheGenI | rs6475 |
Biobank | rs6475 |
1000 genomes | rs6475 |
hgdp | rs6475 |
ensembl | rs6475 |
geneview | rs6475 |
scholar | rs6475 |
rs6475 | |
pharmgkb | rs6475 |
gwascentral | rs6475 |
openSNP | rs6475 |
23andMe | rs6475 |
SNPshot | rs6475 |
SNPdbe | rs6475 |
MSV3d | rs6475 |
GWAS Ctlg | rs6475 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | Rs6475(A;A) |
Alt | Rs6475(A;A) |
Reference | Rs6475(T;T) |
Significance | Pathogenic |
Disease | 21-hydroxylase deficiency |
Variation | info |
Gene | CYP21A2 |
CLNDBN | 21-hydroxylase deficiency |
Reversed | 0 |
HGVS | NC_000006.11:g.32007203T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012933.2, RCV000416339.1, RCV000416360.1, |