Tag
Steroid Hormones
16 genetic variants with this tag.
| RSID | Gene | Description | Category | ||
|---|---|---|---|---|---|
| rs104894085 | STAR Q258X (c.772C>T) | Nonsense mutation in STAR that abolishes steroidogenic acute regulatory prote... | Reproductive Hormones | Established | |
| rs104894135 | CYP17A1 Ser106Pro | Pathogenic missense variant in CYP17A1 causing complete loss of 17α-hydroxyla... | Reproductive Hormones | Established | |
| rs104894136 | CYP17A1 Arg239* | Pathogenic nonsense variant in CYP17A1 introducing a premature stop codon at ... | Reproductive Hormones | Established | |
| rs104894138 | CYP17A1 Arg96Trp (R96W) | Pathogenic missense variant abolishing 17α-hydroxylase/17,20-lyase activity, ... | Reproductive Hormones | Established | |
| rs104894141 | CYP17A1 W17X | Rare pathogenic nonsense variant in CYP17A1 causing complete abolition of 17α... | Reproductive Hormones | Established | |
| rs104894142 | CYP17A1 R362C (Arg362Cys) | Pathogenic CYP17A1 missense variant causing combined 17α-hydroxylase/17,20-ly... | Reproductive Hormones | Established | |
| rs104894143 | CYP17A1 W406R (Trp406Arg) | Pathogenic missense variant in CYP17A1 causing complete loss of 17α-hydroxyla... | Reproductive Hormones | Established | |
| rs1784692 | ZBTB16 ZBTB16/PLZF Ovarian Volume | An intronic variant in the ZBTB16 (PLZF) locus on chromosome 11q23.2; the T a... | Fertility & Ovarian Function | Moderate | |
| rs137852690 | STAR A218V | STAR missense variant abolishing steroidogenic activity; homozygous carriers ... | Reproductive Hormones | Established | |
| rs2414095 | CYP19A1 | Intronic variant in the aromatase gene associated with lower circulating estr... | Reproductive Hormones | Strong | |
| rs28934880 | HSD3B2 Ala10Glu | Missense variant abolishing 3β-hydroxysteroid dehydrogenase type 2 activity; ... | Reproductive Hormones | Strong | |
| rs5934505 | FAM9B | Intergenic GWAS variant on chromosome Xp22, near the testis-specific genes FA... | Reproductive Hormones | Strong | |
| rs6162 | CYP17A1 His46= | Synonymous coding variant in CYP17A1 that tags a haplotype linked to altered ... | Reproductive Hormones | Moderate | |
| rs6259 | SHBG Asp356Asn | Missense variant in SHBG exon 8 (p.Asp356Asn, historically Asp327Asn in matur... | Reproductive Hormones | Moderate | |
| rs727428 | SHBG SHBG +1091 C>T | Regulatory variant 1 kb downstream of the SHBG gene that reduces sex hormone-... | Reproductive Hormones | Strong | |
| rs743572 | CYP17A1 -34 T>C | Promoter variant affecting 17α-hydroxylase expression and steroid hormone syn... | Hormones & Sleep | Strong |