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PSG1 c.709+1318T>C
Variant ID: 19-43374601-A-G
NM_001184825.1(
PSG1
):c.709+1318T>C
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:
Data on a genome-wide association study of type 2 diabetes in a Maya population.
Data In Brief
Totomoch-Serra, Armando A; Domínguez-Cruz, Miriam Givisay MG; Muñoz, María de Lourdes ML; García-Escalante, María Guadalupe MG; Burgueño, Juan J; Díaz-Badillo, Álvaro Á; Valadez-González, Nina N; Escalante, Doris Pinto DP
Publication Date: 2020-02
Variant appearance in text: rs1988065
PubMed Link:
31872004
Variant Present in the following documents:
Main text
View BVdb publication page
Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation.
Human Mutation
Marduel, Marie M; Ouguerram, Khadija K; Serre, Valérie V; Bonnefont-Rousselot, Dominique D; Marques-Pinheiro, Alice A; Erik Berge, Knut K; Devillers, Martine M; Luc, Gérald G; Lecerf, Jean-Michel JM; Tosolini, Laurent L; Erlich, Danièle D; Peloso, Gina M GM; Stitziel, Nathan N; Nitchké, Patrick P; Jaïs, Jean-Philippe JP; , ; Abifadel, Marianne M; Kathiresan, Sekar S; Leren, Trond Paul TP; Rabès, Jean-Pierre JP; Boileau, Catherine C; Varret, Mathilde M
Publication Date: 2013-01
Variant appearance in text: rs1988065
PubMed Link:
22949395
Variant Present in the following documents:
Main text
View BVdb publication page