rs397515532
From SNPedia
Merged into | rs267606756 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs397515532(-;T) |
Make rs397515532(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 32040189 |
Gene | CYP21A2 |
is a | snp |
is | mentioned by |
dbSNP | rs397515532 |
dbSNP (classic) | rs397515532 |
ClinGen | rs397515532 |
ebi | rs397515532 |
HLI | rs397515532 |
Exac | rs397515532 |
Gnomad | rs397515532 |
Varsome | rs397515532 |
LitVar | rs397515532 |
Map | rs397515532 |
PheGenI | rs397515532 |
Biobank | rs397515532 |
1000 genomes | rs397515532 |
hgdp | rs397515532 |
ensembl | rs397515532 |
geneview | rs397515532 |
scholar | rs397515532 |
rs397515532 | |
pharmgkb | rs397515532 |
gwascentral | rs397515532 |
openSNP | rs397515532 |
23andMe | rs397515532 |
SNPshot | rs397515532 |
SNPdbe | rs397515532 |
MSV3d | rs397515532 |
GWAS Ctlg | rs397515532 |
Status | Merged into rs267606756 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397515532(T;T) |
Alt | rs397515532(T;T) |
Reference | Rs397515532(;) |
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, |