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rs587776566

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AATG;AATG) 0 common in clinvar
(ATT;ATT) 0 common in clinvar
Make rs587776566(-;-)
Make rs587776566(-;ATT)
ReferenceGRCh38 38.1/142
Chromosome2
Position31531448
GeneSRD5A2
is asnp
is mentioned by
dbSNPrs587776566
ebirs587776566
HLIrs587776566
Exacrs587776566
Varsomers587776566
Maprs587776566
PheGenIrs587776566
hapmaprs587776566
1000 genomesrs587776566
hgdprs587776566
ensemblrs587776566
gopubmedrs587776566
geneviewrs587776566
scholarrs587776566
googlers587776566
pharmgkbrs587776566
gwascentralrs587776566
openSNPrs587776566
23andMers587776566
23andMe allrs587776566
SNP Nexus

SNPshotrs587776566
SNPdbers587776566
MSV3drs587776566
GWAS Ctlgrs587776566
Max Magnitude0
ClinVar
Risk rs587776566(ATTG,G;ATTG,G)
Alt rs587776566(ATTG,G;ATTG,G)
Reference rs587776566(AATG;AATG)
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,