HSD17B1 c.539+50C>G

Variant ID: 17-40705955-C-G

NM_000413.2(HSD17B1):c.539+50C>G

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs2676530
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs2676530
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
Publication Date: 2017-05-12

Variant appearance in text: rs2676530
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Involvement of 17β-hydroxysteroid dehydrogenase type gene 1 937 A>G polymorphism in infertility in Polish Caucasian women with endometriosis.

Journal Of Assisted Reproduction And Genetics
Osiński, Maciej M; Mostowska, Adrianna A; Wirstlein, Przemyslaw P; Skrzypczak, Jana J; Jagodziński, Paweł Piotr PP; Szczepańska, Malgorzata M
Publication Date: 2017-06

Variant appearance in text: rs2676530
PubMed Link: 28405865
Variant Present in the following documents:
  • Main text
  • 10815_2017_Article_911.pdf
View BVdb publication page



A screening-testing approach for detecting gene-environment interactions using sequential penalized and unpenalized multiple logistic regression.

Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing
Frost, H Robert HR; Andrew, Angeline S AS; Karagas, Margaret R MR; Moore, Jason H JH
Publication Date: 2015

Variant appearance in text: rs2676530
PubMed Link: 25592580
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms in HSD17B1: Early Onset and Increased Risk of Alzheimer's Disease in Women with Down Syndrome.

Current Gerontology And Geriatrics Research
Lee, Joseph H JH; Gurney, Susan S; Pang, Deborah D; Temkin, Alexis A; Park, Naeun N; Janicki, Sarah C SC; Zigman, Warren B WB; Silverman, Wayne W; Tycko, Benjamin B; Schupf, Nicole N
Publication Date: 2012

Variant appearance in text: rs2676530
PubMed Link: 22474448
Variant Present in the following documents:
  • Main text
  • CGGR2012-361218.pdf
View BVdb publication page



Interaction of soy and 17beta-HSD1 gene polymorphisms in the risk of endometrial cancer.

Pharmacogenetics And Genomics
Dai, Qi Q; Xu, Wang-Hong WH; Long, Ji-Rong JR; Courtney, Regina R; Xiang, Yong-Bing YB; Cai, Qiuyin Q; Cheng, Jiarong J; Zheng, Wei W; Shu, Xiao-Ou XO
Publication Date: 2007-02

Variant appearance in text: rs2676530
PubMed Link: 17301695
Variant Present in the following documents:
  • Main text
View BVdb publication page