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COL3A1 c.80-1018T>C
Variant ID: 2-189848468-T-C
NM_000090.3(
COL3A1
):c.80-1018T>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:
An Association Study of Interleukin 18 Receptor Genes (IL18R1 and IL18RAP) in Lumbar Disc Degeneration.
The Open Orthopaedics Journal
Omair, Ahmad A; Lie, Benedicte Alexandra BA; Reikeras, Olav O; Brox, Jens Ivar JI
Publication Date: 2012
Variant appearance in text: rs2056156
PubMed Link:
22550553
Variant Present in the following documents:
Main text
TOORTHJ-6-164.pdf
View BVdb publication page
Collagen type III alpha I is a gastro-oesophageal reflux disease susceptibility gene and a male risk factor for hiatus hernia.
Gut
Asling, B B; Jirholt, J J; Hammond, P P; Knutsson, M M; Walentinsson, A A; Davidson, G G; Agreus, L L; Lehmann, A A; Lagerström-Fermer, M M
Publication Date: 2009-08
Variant appearance in text: rs2056156
PubMed Link:
19398442
Variant Present in the following documents:
Main text
GUT-58-08-1063.pdf
View BVdb publication page