rs6445
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
(C;T) | 3 | Carrier of allele for congenital adrenal hyperplasia |
(T;T) | 5 | Congenital adrenal hyperplasia |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 32041006 |
Gene | CYP21A2, TNXB |
is a | snp |
is | mentioned by |
dbSNP | rs6445 |
dbSNP (classic) | rs6445 |
ClinGen | rs6445 |
ebi | rs6445 |
HLI | rs6445 |
Exac | rs6445 |
Gnomad | rs6445 |
Varsome | rs6445 |
LitVar | rs6445 |
Map | rs6445 |
PheGenI | rs6445 |
Biobank | rs6445 |
1000 genomes | rs6445 |
hgdp | rs6445 |
ensembl | rs6445 |
geneview | rs6445 |
scholar | rs6445 |
rs6445 | |
pharmgkb | rs6445 |
gwascentral | rs6445 |
openSNP | rs6445 |
23andMe | rs6445 |
SNPshot | rs6445 |
SNPdbe | rs6445 |
MSV3d | rs6445 |
GWAS Ctlg | rs6445 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | Rs6445(T;T) |
Alt | Rs6445(T;T) |
Reference | Rs6445(C;C) |
Significance | Pathogenic |
Disease | 21-hydroxylase deficiency |
Variation | info |
Gene | TNXB CYP21A2 |
CLNDBN | 21-hydroxylase deficiency |
Reversed | 0 |
HGVS | NC_000006.11:g.32008783C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012943.3, |