rs9378251
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
(C;T) | 3 | Carrier of allele for congenital adrenal hyperplasia |
(T;T) | 5 | Congenital adrenal hyperplasia |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 32038514 |
Gene | CYP21A2 |
is a | snp |
is | mentioned by |
dbSNP | rs9378251 |
dbSNP (classic) | rs9378251 |
ClinGen | rs9378251 |
ebi | rs9378251 |
HLI | rs9378251 |
Exac | rs9378251 |
Gnomad | rs9378251 |
Varsome | rs9378251 |
LitVar | rs9378251 |
Map | rs9378251 |
PheGenI | rs9378251 |
Biobank | rs9378251 |
1000 genomes | rs9378251 |
hgdp | rs9378251 |
ensembl | rs9378251 |
geneview | rs9378251 |
scholar | rs9378251 |
rs9378251 | |
pharmgkb | rs9378251 |
gwascentral | rs9378251 |
openSNP | rs9378251 |
23andMe | rs9378251 |
SNPshot | rs9378251 |
SNPdbe | rs9378251 |
MSV3d | rs9378251 |
GWAS Ctlg | rs9378251 |
Max Magnitude | 5 |
aka c.92C>T, p.Pro31Leu and P31L
associated with non-classic 21-OH CAH; see GeneReviews as well as OMIM
ClinVar | |
---|---|
Risk | Rs9378251(T;T) |
Alt | Rs9378251(T;T) |
Reference | Rs9378251(C;C) |
Significance | Pathogenic |
Disease | 21-hydroxylase deficiency |
Variation | info |
Gene | CYP21A2 |
CLNDBN | 21-hydroxylase deficiency |
Reversed | 0 |
HGVS | NC_000006.11:g.32006291C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012938.3, |