rs606231200
From SNPedia
Merged into | rs267606756 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs606231200(-;T) |
Make rs606231200(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 32040187 |
Gene | CYP21A2 |
is a | snp |
is | mentioned by |
dbSNP | rs606231200 |
dbSNP (classic) | rs606231200 |
ClinGen | rs606231200 |
ebi | rs606231200 |
HLI | rs606231200 |
Exac | rs606231200 |
Gnomad | rs606231200 |
Varsome | rs606231200 |
LitVar | rs606231200 |
Map | rs606231200 |
PheGenI | rs606231200 |
Biobank | rs606231200 |
1000 genomes | rs606231200 |
hgdp | rs606231200 |
ensembl | rs606231200 |
geneview | rs606231200 |
scholar | rs606231200 |
rs606231200 | |
pharmgkb | rs606231200 |
gwascentral | rs606231200 |
openSNP | rs606231200 |
23andMe | rs606231200 |
SNPshot | rs606231200 |
SNPdbe | rs606231200 |
MSV3d | rs606231200 |
GWAS Ctlg | rs606231200 |
Status | Merged into rs267606756 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231200(T;T) |
Alt | rs606231200(T;T) |
Reference | Rs606231200(;) |
Significance | Pathogenic |
Disease | 21-hydroxylase deficiency |
Variation | info |
Gene | CYP21A2 |
CLNDBN | 21-hydroxylase deficiency |
Reversed | 0 |
HGVS | NC_000006.11:g.32007966dupT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000055821.3, |