PITPNM2 c.78+194A>G

Variant ID: 12-123518866-T-C

NM_020845.2(PITPNM2):c.78+194A>G

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Immune system disruptions implicated in whole blood epigenome-wide association study of depression among Parkinson's disease patients.

Brain, Behavior, & Immunity - Health
Paul, Kimberly C KC; Kusters, Cynthia C; Furlong, Melissa M; Zhang, Keren K; Yu, Yu Y; Folle, Aline Duarte AD; Del Rosario, Irish I; Keener, Adrienne A; Bronstein, Jeff J; Sinsheimer, Janet S JS; Horvath, Steve S; Ritz, Beate B
Publication Date: 2022-12

Variant appearance in text: rs641760
PubMed Link: 36325427
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



A transcriptome-wide association study of uterine fibroids to identify potential genetic markers and toxic chemicals.

Plos One
Kim, Gayeon G; Jang, Gyuyeon G; Song, Jaeseung J; Kim, Daeun D; Lee, Sora S; Joo, Jong Wha J JWJ; Jang, Wonhee W
Publication Date: 2022

Variant appearance in text: rs641760
PubMed Link: 36174000
Variant Present in the following documents:
  • Main text
  • pone.0274879.pdf
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs641760
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Exploring Potential Causal Genes for Uterine Leiomyomas: A Summary Data-Based Mendelian Randomization and FUMA Analysis.

Frontiers In Genetics
Dai, Yuxin Y; Liu, Xudong X; Zhu, Yining Y; Mao, Su S; Yang, Jingyun J; Zhu, Lan L
Publication Date: 2022

Variant appearance in text: rs641760
PubMed Link: 35903355
Variant Present in the following documents:
  • Main text
  • fgene-13-890007.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: rs641760
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Genome-wide analysis of genetic predisposition to Alzheimer's disease and related sex disparities.

Alzheimer'S Research & Therapy
Nazarian, Alireza A; Yashin, Anatoliy I AI; Kulminski, Alexander M AM
Publication Date: 2019-01-12

Variant appearance in text: rs641760
PubMed Link: 30636644
Variant Present in the following documents:
  • Main text
  • 13195_2018_Article_458.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: PITPNM2: 78+194A>G; rs641760
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page