rs398124401
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs398124401(A;A) |
Make rs398124401(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 55346393 |
Gene | SRD5A3 |
is a | snp |
is | mentioned by |
dbSNP | rs398124401 |
dbSNP (classic) | rs398124401 |
ClinGen | rs398124401 |
ebi | rs398124401 |
HLI | rs398124401 |
Exac | rs398124401 |
Gnomad | rs398124401 |
Varsome | rs398124401 |
LitVar | rs398124401 |
Map | rs398124401 |
PheGenI | rs398124401 |
Biobank | rs398124401 |
1000 genomes | rs398124401 |
hgdp | rs398124401 |
ensembl | rs398124401 |
geneview | rs398124401 |
scholar | rs398124401 |
rs398124401 | |
pharmgkb | rs398124401 |
gwascentral | rs398124401 |
openSNP | rs398124401 |
23andMe | rs398124401 |
SNPshot | rs398124401 |
SNPdbe | rs398124401 |
MSV3d | rs398124401 |
GWAS Ctlg | rs398124401 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398124401(A;A) |
Alt | rs398124401(A;A) |
Reference | Rs398124401(G;G) |
Significance | Pathogenic |
Disease | not provided Congenital disorder of glycosylation type 1Q |
Variation | info |
Gene | SRD5A3 |
CLNDBN | not provided Congenital disorder of glycosylation type 1Q |
Reversed | 0 |
HGVS | NC_000004.11:g.56212560G>A |
CLNSRC | HGMD |
CLNACC | RCV000082197.4, RCV000173528.2, |