rs111647200
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs111647200(A;A) |
Make rs111647200(A;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 6 |
Position | 32039807 |
Gene | CYP21A2 |
is a | snp |
is | mentioned by |
dbSNP | rs111647200 |
dbSNP (classic) | rs111647200 |
ClinGen | rs111647200 |
ebi | rs111647200 |
HLI | rs111647200 |
Exac | rs111647200 |
Gnomad | rs111647200 |
Varsome | rs111647200 |
LitVar | rs111647200 |
Map | rs111647200 |
PheGenI | rs111647200 |
Biobank | rs111647200 |
1000 genomes | rs111647200 |
hgdp | rs111647200 |
ensembl | rs111647200 |
geneview | rs111647200 |
scholar | rs111647200 |
rs111647200 | |
pharmgkb | rs111647200 |
gwascentral | rs111647200 |
openSNP | rs111647200 |
23andMe | rs111647200 |
SNPshot | rs111647200 |
SNPdbe | rs111647200 |
MSV3d | rs111647200 |
GWAS Ctlg | rs111647200 |
Merged from | Rs151344502 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111647200(A;A) |
Alt | rs111647200(A;A) |
Reference | Rs111647200(T;T) |
Significance | Pathogenic |
Disease | 21-hydroxylase deficiency |
Variation | info |
Gene | CYP21A2 |
CLNDBN | 21-hydroxylase deficiency |
Reversed | 0 |
HGVS | NC_000006.11:g.32007584T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012947.3, |