rs1057519068
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GCTCCTGGAAGG;GCTCCTGGAAGG) | 0 | common in clinvar |
Make rs1057519068(-;-) |
Make rs1057519068(-;TCCTGGAAGGGC) |
Make rs1057519068(TCCTGGAAGGGC;TCCTGGAAGGGC) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 6 |
Position | 32040096 |
Gene | CYP21A2 |
is a | snp |
is | mentioned by |
dbSNP | rs1057519068 |
dbSNP (classic) | rs1057519068 |
ClinGen | rs1057519068 |
ebi | rs1057519068 |
HLI | rs1057519068 |
Exac | rs1057519068 |
Gnomad | rs1057519068 |
Varsome | rs1057519068 |
LitVar | rs1057519068 |
Map | rs1057519068 |
PheGenI | rs1057519068 |
Biobank | rs1057519068 |
1000 genomes | rs1057519068 |
hgdp | rs1057519068 |
ensembl | rs1057519068 |
geneview | rs1057519068 |
scholar | rs1057519068 |
rs1057519068 | |
pharmgkb | rs1057519068 |
gwascentral | rs1057519068 |
openSNP | rs1057519068 |
23andMe | rs1057519068 |
SNPshot | rs1057519068 |
SNPdbe | rs1057519068 |
MSV3d | rs1057519068 |
GWAS Ctlg | rs1057519068 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519068(-;-) |
Alt | rs1057519068(-;-) |
Reference | Rs1057519068(GCTCCTGGAAGG;GCTCCTGGAAGG) |
Significance | Pathogenic |
Disease | 21-hydroxylase deficiency |
Variation | info |
Gene | CYP21A2 |
CLNDBN | 21-hydroxylase deficiency |
Reversed | 0 |
HGVS | NC_000006.11:g.32007873_32007884del12 |
CLNSRC | |
CLNACC | RCV000416339.1, |