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ASS1 c.838+2190A>G
Variant ID: 9-133358026-A-G
NM_054012.3(
ASS1
):c.838+2190A>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: rs12555797
PubMed Link:
30214008
Variant Present in the following documents:
NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page
Polymorphisms in urea cycle enzyme genes are associated with persistent pulmonary hypertension of the newborn.
Pediatric Research
Kaluarachchi, Dinushan C DC; Smith, Caitlin J CJ; Klein, Jonathan M JM; Murray, Jeffrey C JC; Dagle, John M JM; Ryckman, Kelli K KK
Publication Date: 2018-01
Variant appearance in text: rs12555797
PubMed Link:
28609431
Variant Present in the following documents:
Main text
View BVdb publication page
Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.
Genomics Insights
Driss, A A; Asare, K O KO; Hibbert, J M JM; Gee, B E BE; Adamkiewicz, T V TV; Stiles, J K JK
Publication Date: 2009-07-30
Variant appearance in text: rs12555797
PubMed Link:
20401335
Variant Present in the following documents:
Main text
gei-2-2009-023.pdf
View BVdb publication page