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VWF c.917C>G ;(p.S306C)
Variant ID: 12-6182865-G-C
NM_000552.3(
VWF
):c.917C>G;(p.S306C)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genetic variation in human drug-related genes.
Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22
Variant appearance in text: rs200097381
PubMed Link:
29273096
Variant Present in the following documents:
13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page
Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes.
Journal Of Thrombosis And Haemostasis : Jth
Wang, Q Y QY; Song, J J; Gibbs, R A RA; Boerwinkle, E E; Dong, J F JF; Yu, F L FL
Publication Date: 2013-02
Variant appearance in text: VWF: S306C
PubMed Link:
23216583
Variant Present in the following documents:
Main text
View BVdb publication page