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F5 c.5788+122T>G
Variant ID: 1-169493953-A-C
NM_000130.4(
F5
):c.5788+122T>G
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.
The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04
Variant appearance in text: rs12131397
PubMed Link:
30214008
Variant Present in the following documents:
NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page
Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.
Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017
Variant appearance in text: rs12131397
PubMed Link:
28690861
Variant Present in the following documents:
hgv201727-s1.xls, sheet 1
View BVdb publication page
Preterm birth in Caucasians is associated with coagulation and inflammation pathway gene variants.
Plos One
Velez, Digna R DR; Fortunato, Stephen J SJ; Thorsen, Poul P; Lombardi, Salvatore J SJ; Williams, Scott M SM; Menon, Ramkumar R
Publication Date: 2008-09-26
Variant appearance in text: rs12131397
PubMed Link:
18818748
Variant Present in the following documents:
Main text
pone.0003283.pdf
View BVdb publication page