rs151344503
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 5 | Congenital adrenal hyperplasia |
(A;G) | 3 | Carrier of allele for congenital adrenal hyperplasia |
(G;G) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 32040766 |
Gene | CYP21A2, TNXB |
is a | snp |
is | mentioned by |
dbSNP | rs151344503 |
dbSNP (classic) | rs151344503 |
ClinGen | rs151344503 |
ebi | rs151344503 |
HLI | rs151344503 |
Exac | rs151344503 |
Gnomad | rs151344503 |
Varsome | rs151344503 |
LitVar | rs151344503 |
Map | rs151344503 |
PheGenI | rs151344503 |
Biobank | rs151344503 |
1000 genomes | rs151344503 |
hgdp | rs151344503 |
ensembl | rs151344503 |
geneview | rs151344503 |
scholar | rs151344503 |
rs151344503 | |
pharmgkb | rs151344503 |
gwascentral | rs151344503 |
openSNP | rs151344503 |
23andMe | rs151344503 |
SNPshot | rs151344503 |
SNPdbe | rs151344503 |
MSV3d | rs151344503 |
GWAS Ctlg | rs151344503 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | Rs151344503(A;A) |
Alt | Rs151344503(A;A) |
Reference | Rs151344503(G;G) |
Significance | Pathogenic |
Disease | 21-hydroxylase deficiency |
Variation | info |
Gene | TNXB CYP21A2 |
CLNDBN | 21-hydroxylase deficiency |
Reversed | 0 |
HGVS | NC_000006.11:g.32008543G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012953.2, |