RS9332964 SRD5A2

Health Risk Chr 2:31529324 snv missense variant
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What This Variant Does
"rs9332964 is a nonsynonymous change known as R227Q in the SRD5A2 gene. The SRD5A2 gene encodes stero...
Associated Conditions
Micropenis
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
Autism spectrum disorder
SRD5A2-related disorder
Micropenis
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
Autism spectrum disorder
SRD5A2-related disorder
Population Frequencies
gnomAD ALL
100%
1kG AFR
100%
1kG ALL
0.1%
1kG AMR
100%
1kG EAS
99.3%
1kG EUR
100%
1kG SAS
100%
Other Variants in SRD5A2
rs121434244 rs587776566 rs121434245 rs121434246 rs121434247 rs121434248 rs587776567 rs121434249 rs121434250 rs121434251
Ask Dr. Hemsworth about this variant