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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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