ADH1C c.121-252A>G

Variant ID: 4-100268553-T-C

NM_000669.3(ADH1C):c.121-252A>G

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs4147542
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: ADH1C: 121-252A>G; rs4147542
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



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: rs4147542
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Identification of methylation quantitative trait loci (mQTLs) influencing promoter DNA methylation of alcohol dependence risk genes.

Human Genetics
Zhang, Huiping H; Wang, Fan F; Kranzler, Henry R HR; Yang, Can C; Xu, Hongqin H; Wang, Zuoheng Z; Zhao, Hongyu H; Gelernter, Joel J
Publication Date: 2014-09

Variant appearance in text: rs4147542
PubMed Link: 24889829
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study of alcohol dependence:significant findings in African- and European-Americans including novel risk loci.

Molecular Psychiatry
Gelernter, J J; Kranzler, H R HR; Sherva, R R; Almasy, L L; Koesterer, R R; Smith, A H AH; Anton, R R; Preuss, U W UW; Ridinger, M M; Rujescu, D D; Wodarz, N N; Zill, P P; Zhao, H H; Farrer, L A LA
Publication Date: 2014-01

Variant appearance in text: rs4147542
PubMed Link: 24166409
Variant Present in the following documents:
  • Main text
View BVdb publication page