rs202242769
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs202242769(A;A) |
Make rs202242769(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 6 |
Position | 32040723 |
Gene | CYP21A2, TNXB |
is a | snp |
is | mentioned by |
dbSNP | rs202242769 |
dbSNP (classic) | rs202242769 |
ClinGen | rs202242769 |
ebi | rs202242769 |
HLI | rs202242769 |
Exac | rs202242769 |
Gnomad | rs202242769 |
Varsome | rs202242769 |
LitVar | rs202242769 |
Map | rs202242769 |
PheGenI | rs202242769 |
Biobank | rs202242769 |
1000 genomes | rs202242769 |
hgdp | rs202242769 |
ensembl | rs202242769 |
geneview | rs202242769 |
scholar | rs202242769 |
rs202242769 | |
pharmgkb | rs202242769 |
gwascentral | rs202242769 |
openSNP | rs202242769 |
23andMe | rs202242769 |
SNPshot | rs202242769 |
SNPdbe | rs202242769 |
MSV3d | rs202242769 |
GWAS Ctlg | rs202242769 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs202242769(A;A) |
Alt | rs202242769(A;A) |
Reference | Rs202242769(G;G) |
Significance | Probable-Pathogenic |
Disease | 21-hydroxylase deficiency |
Variation | info |
Gene | TNXB CYP21A2 |
CLNDBN | 21-hydroxylase deficiency |
Reversed | 0 |
HGVS | NC_000006.11:g.32008500G>A |
CLNSRC | |
CLNACC | RCV000490344.1, |