CHROMOSOME 1 HSD3B1 1p12 GENE VIEW HSD3B1 · 1p12 1p13 1p11 rs1047303 — ~70,000 base pairs in the gene — ~14,000 uncommon variants · <1% of humans have them — ~1,000 common variants · >1% carry the alternate allele ALLELE STATE rs1047303 Threonine 367 → Asparagine C / A · HSD3B1 · 1p12 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A C Cytosine — reference allele A Adenine — variant allele genetics.jdge.cc

rs1047303

Threonine 367 → Asparagine Gene: HSD3B1 — Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 1 Chr 1:119514623 1p12 Missense Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total C 0.27682A 0.72318CC 0.085797CA/AC 0.382039AA 0.532164pop=75,830
African C 0.12263A 0.87737CC 0.02121CA/AC 0.202847AA 0.775943pop=14,050
African American C 0.12429A 0.87571CC 0.021842CA/AC 0.204903AA 0.773254pop=13,460
African Others C 0.085A 0.915CC 0.00678CA/AC 0.155932AA 0.837288pop=590
Asian C 0.082A 0.918CC 0.032609CA/AC 0.097826AA 0.869565pop=184
East Asian C 0.075A 0.925CC 0.033333CA/AC 0.083333AA 0.883333pop=120
European C 0.32068A 0.67932CC 0.104852CA/AC 0.431666AA 0.463482pop=50,414
Latin American 1 C 0.252A 0.748CC 0.047297CA/AC 0.408784AA 0.543919pop=592
Latin American 2 C 0.184A 0.816CC 0.048611CA/AC 0.270833AA 0.680556pop=864
Other C 0.2867A 0.7133CC 0.087697CA/AC 0.397963AA 0.514339pop=9,624
Other Asian C 0.09A 0.91CC 0.03125CA/AC 0.125AA 0.84375pop=64
South Asian C 0.186A 0.814CC 0.019608CA/AC 0.333333AA 0.647059pop=102

Studies12

Unread Studies12
1
PID
Connecting Gene Variation to Treatment Outcomes in Metastatic Castration-Resistant Prostate Adenocarcinoma: Insights into Second-Generation Androgen Receptor Axis-Targeted Therapies.
2
PID
Importance of 3β-hydroxysteroid dehydrogenases and their clinical use in prostate cancer.
3
PID
Genetic variations predicting progression with docetaxel and novel androgen-receptor pathway inhibitors.
4
PID
Impact of trough abiraterone level on adverse events in patients with prostate cancer treated with abiraterone acetate.
5
PID
Association Between Adrenal-Restrictive HSD3B1 Inheritance and Hormone-Independent Subtypes of Endometrial and Breast Cancer.
6
PID
Clinical impact of HSD3B1 polymorphism by metastatic volume and somatic HSD3B1 alterations in advanced prostate cancer.
7
PID
Prostate Cancer Mortality Associated with Aggregate Polymorphisms in Androgen-Regulating Genes: The Atherosclerosis Risk in the Communities (ARIC) Study.
8
PID
HSD3B1 Genotypes Conferring Adrenal-Restrictive and Adrenal-Permissive Phenotypes in Prostate Cancer and Beyond.
9
PID
Association of Missense Polymorphism in HSD3B1 With Outcomes Among Men With Prostate Cancer Treated With Androgen-Deprivation Therapy or Abiraterone.
10
PID
Interactions between dietary acrylamide intake and genes for ovarian cancer risk.
11
PID
Estrogen synthesis genes CYP19A1, HSD3B1, and HSD3B2 in hypertensive disorders of pregnancy.
12
PID
Association of HSD3B1 and HSD3B2 gene polymorphisms with essential hypertension, aldosterone level, and left ventricular structure.
Curated Studies0

These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.

No curated studies yet.

Unused Studies0

No unused studies.