VWF c.2340C>G ;(p.N780K)

Variant ID: 12-6153559-G-C

NM_000552.3(VWF):c.2340C>G;(p.N780K)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Functional & Integrative Genomics
Alkhamis, Fahad A FA; Alabdali, Majed M MM; Alsulaiman, Abdulla A AA; Alamri, Abdullah S AS; Alali, Rudaynah R; Akhtar, Mohammed S MS; Alsalman, Sadiq A SA; Cyrus, Cyril C; Albakr, Aishah I AI; Alduhalan, Anas S AS; Gandla, Divya D; Al-Romaih, Khaldoun K; Abouelhoda, Mohamed M; Loza, Bao-Li BL; Keating, Brendan B; Al-Ali, Amein K AK
Publication Date: 2023-03-27

Variant appearance in text: VWF: 2340C>G; Asn780Lys; rs143904314
PubMed Link: 36973604
Variant Present in the following documents:
  • 10142_2023_1039_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Phenotypic and Genotypic Characterization of von Willebrand Factor Gene (Exon 18 and 20) in Saudi Healthy Individuals.

Medical Archives (Sarajevo, Bosnia And Herzegovina)
Alzahrani, Faisal M FM; Aldossary, Nemat N; Hassan, Fathelrahman Mahdi FM
Publication Date: 2020-10

Variant appearance in text: VWF: 2340C>G; Asn780Lys; rs143904314
PubMed Link: 33424085
Variant Present in the following documents:
  • Main text
  • medarch-74-337.pdf
View BVdb publication page



Group association test using a hidden Markov model.

Biostatistics (Oxford, England)
Cheng, Yichen Y; Dai, James Y JY; Kooperberg, Charles C
Publication Date: 2016-04

Variant appearance in text: VWF: Asn780Lys; rs143904314
PubMed Link: 26420797
Variant Present in the following documents:
  • Main text
View BVdb publication page