VWF c.1463C>G ;(p.A488G)

Variant ID: 12-6172190-G-C

NM_000552.3(VWF):c.1463C>G;(p.A488G)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: Ala488Gly; rs144817575
PubMed Link: 26420797
Variant Present in the following documents:
  • Main text
View BVdb publication page



VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population.

Blood
Bellissimo, Daniel B DB; Christopherson, Pamela A PA; Flood, Veronica H VH; Gill, Joan Cox JC; Friedman, Kenneth D KD; Haberichter, Sandra L SL; Shapiro, Amy D AD; Abshire, Thomas C TC; Leissinger, Cindy C; Hoots, W Keith WK; Lusher, Jeanne M JM; Ragni, Margaret V MV; Montgomery, Robert R RR
Publication Date: 2012-03-01

Variant appearance in text: VWF: A488G
PubMed Link: 22197721
Variant Present in the following documents:
  • Main text
View BVdb publication page