LRRK2 c.572-82A>G

Variant ID: 12-40634203-A-G

NM_198578.3(LRRK2):c.572-82A>G

This variant was identified in 6 publications

View GRCh38 version.




Publications:


High-Throughput Sequencing Haplotype Analysis Indicates in LRRK2 Gene a Potential Risk Factor for Endemic Parkinsonism in Southeastern Moravia, Czech Republic.

Life (Basel, Switzerland)
Kolarikova, Kristyna K; Vodicka, Radek R; Vrtel, Radek R; Stellmachova, Julia J; Prochazka, Martin M; Mensikova, Katerina K; Bartonikova, Tereza T; Furst, Tomas T; Kanovsky, Petr P; Geryk, Jan J
Publication Date: 2022-01-14

Variant appearance in text: LRRK2: 572-82A>G; rs11564187
PubMed Link: 35054514
Variant Present in the following documents:
  • Main text
  • life-12-00121.pdf
View BVdb publication page



High-Throughput Sequencing Haplotype Analysis Indicates in LRRK2 Gene a Potential Risk Factor for Endemic Parkinsonism in Southeastern Moravia, Czech Republic.

Life (Basel, Switzerland)
Kolarikova, Kristyna K; Vodicka, Radek R; Vrtel, Radek R; Stellmachova, Julia J; Prochazka, Martin M; Mensikova, Katerina K; Bartonikova, Tereza T; Furst, Tomas T; Kanovsky, Petr P; Geryk, Jan J
Publication Date: 2022-01-14

Variant appearance in text: LRRK2: 572-82A>G; rs11564187
PubMed Link: 35054514
Variant Present in the following documents:
  • Main text
  • life-12-00121.pdf
View BVdb publication page



Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs11564187
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Phenome-wide association studies across large population cohorts support drug target validation.

Nature Communications
Diogo, Dorothée D; Tian, Chao C; Franklin, Christopher S CS; Alanne-Kinnunen, Mervi M; March, Michael M; Spencer, Chris C A CCA; Vangjeli, Ciara C; Weale, Michael E ME; Mattsson, Hannele H; Kilpeläinen, Elina E; Sleiman, Patrick M A PMA; Reilly, Dermot F DF; McElwee, Joshua J; Maranville, Joseph C JC; Chatterjee, Arnaub K AK; Bhandari, Aman A; Nguyen, Khanh-Dung H KH; Estrada, Karol K; Reeve, Mary-Pat MP; Hutz, Janna J; Bing, Nan N; John, Sally S; MacArthur, Daniel G DG; Salomaa, Veikko V; Ripatti, Samuli S; Hakonarson, Hakon H; Daly, Mark J MJ; Palotie, Aarno A; Hinds, David A DA; Donnelly, Peter P; Fox, Caroline S CS; Day-Williams, Aaron G AG; Plenge, Robert M RM; Runz, Heiko H
Publication Date: 2018-10-16

Variant appearance in text: rs11564187
PubMed Link: 30327483
Variant Present in the following documents:
  • 41467_2018_6540_MOESM1_ESM.pdf
  • 41467_2018_Article_6540.pdf
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: LRRK2: 572-82A>G; rs11564187
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



Parkinson's disease and low frequency alleles found together throughout LRRK2.

Annals Of Human Genetics
Paisán-Ruiz, Coro C; Washecka, Nicole N; Nath, Priti P; Singleton, Andrew B AB; Corder, Elizabeth H EH
Publication Date: 2009-07

Variant appearance in text: rs11564187
PubMed Link: 19489756
Variant Present in the following documents:
  • Main text
View BVdb publication page