Variant ID: 16-75086875-A-T

NM_032268.4(ZNRF1):c.425-40595A>T

This variant was identified in 4 publications




Publications:


Possible Modifying Effect of Hemoglobin A1c on Genetic Susceptibility to Severe Diabetic Retinopathy in Patients With Type 2 Diabetes.

Investigative Ophthalmology & Visual Science
KKK Ng, CYY Cheung, CH Lee, CHY Fong, KHM Kwok, KKW Li, RA Gangwani, IYH Wong, YC Woo, WS Chow, MMA Yuen, RLC Wong, A Xu, DSH Wong, PC Sham, KSL Lam
Publication Date: 2020-08-03

Variant appearance in text: rs17684886
PubMed Link: 32756921
Variant Present in the following documents:
  • Main text
View BVdb publication page



Unraveling the role of genetics in the pathogenesis of diabetic retinopathy.

Eye (London, England)
A Sharma, ML Valle, C Beveridge, Y Liu, S Sharma
Publication Date: 2019-04

Variant appearance in text: rs17684886
PubMed Link: 30679875
Variant Present in the following documents:
  • Main text
View BVdb publication page



T2DiACoD: A Gene Atlas of Type 2 Diabetes Mellitus Associated Complex Disorders.

Scientific Reports
J Rani, I Mittal, A Pramanik, N Singh, N Dube, S Sharma, BL Puniya, MV Raghunandanan, A Mobeen, S Ramachandran
Publication Date: 2017-07-31

Variant appearance in text: rs17684886
PubMed Link: 28761062
Variant Present in the following documents:
  • 41598_2017_7238_MOESM3_ESM.xls
View BVdb publication page



Genome-wide meta-analysis for severe diabetic retinopathy.

Human Molecular Genetics
MA Grassi, A Tikhomirov, S Ramalingam, JE Below, NJ Cox, DL Nicolae
Publication Date: 2011-06-15

Variant appearance in text: rs17684886
PubMed Link: 21441570
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000320619.6 c.425-40595A>T - intron_variant - 1/5
ENST00000335325.4 c.425-40595A>T - intron_variant - 1/4
ENST00000564320.1 n.273+6089A>T - intron_variant,non_coding_transcript_variant - 2/5
ENST00000566250.1 c.425-40595A>T - intron_variant - 1/2
ENST00000567962.1 c.425-40595A>T - intron_variant - 1/4
ENST00000568511.1 c.-253-31452A>T - intron_variant - 1/3
NM_032268.5 c.425-40595A>T - intron_variant - 1/4