rs587776566
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AAT;AAT) | 0 | common in clinvar |
(AATG;AATG) | 0 | common in clinvar |
(ATT;ATT) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs587776566(-;-) |
Make rs587776566(-;ATT) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 31531448 |
Gene | SRD5A2 |
is a | snp |
is | mentioned by |
dbSNP | rs587776566 |
dbSNP (classic) | rs587776566 |
ClinGen | rs587776566 |
ebi | rs587776566 |
HLI | rs587776566 |
Exac | rs587776566 |
Gnomad | rs587776566 |
Varsome | rs587776566 |
LitVar | rs587776566 |
Map | rs587776566 |
PheGenI | rs587776566 |
Biobank | rs587776566 |
1000 genomes | rs587776566 |
hgdp | rs587776566 |
ensembl | rs587776566 |
geneview | rs587776566 |
scholar | rs587776566 |
rs587776566 | |
pharmgkb | rs587776566 |
gwascentral | rs587776566 |
openSNP | rs587776566 |
23andMe | rs587776566 |
SNPshot | rs587776566 |
SNPdbe | rs587776566 |
MSV3d | rs587776566 |
GWAS Ctlg | rs587776566 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587776566(ATT;ATT) rs587776566(-;-) |
Alt | Rs587776566(ATT;ATT) rs587776566(-;-) |
Reference | Rs587776566(AAT;AAT) |
Significance | Pathogenic |
Disease | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
Variation | info |
Gene | SRD5A2 |
CLNDBN | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency |
Reversed | 1 |
HGVS | NC_000002.11:g.31756518_31756520delATT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003502.2, |