RAB5B c.-93+1583A>G

Variant ID: 12-56369506-A-G

NM_002868.4(RAB5B):c.-93+1583A>G

This variant was identified in 8 publications

View GRCh38 version.




Publications:


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: rs773107
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports SH3PXD2A as a Clefting Susceptibility Gene.

Genes
van Rooij, Iris Alm IA; Ludwig, Kerstin U KU; Welzenbach, Julia J; Ishorst, Nina N; Thonissen, Michelle M; Galesloot, Tessel E TE; Ongkosuwito, Edwin E; Bergé, Stefaan J SJ; Aldhorae, Khalid K; Rojas-Martinez, Augusto A; Kiemeney, Lambertus Alm LA; Vermeesch, Joris Robert JR; Brunner, Han H; Roeleveld, Nel N; Devriendt, Koen K; Dormaar, Titiaan T; Hens, Greet G; Knapp, Michael M; Carels, Carine C; Mangold, Elisabeth E
Publication Date: 2019-12-07

Variant appearance in text: rs773107
PubMed Link: 31817908
Variant Present in the following documents:
  • Main text
  • genes-10-01023.pdf
View BVdb publication page



Genome-wide association study of medication-use and associated disease in the UK Biobank.

Nature Communications
Wu, Yeda Y; Byrne, Enda M EM; Zheng, Zhili Z; Kemper, Kathryn E KE; Yengo, Loic L; Mallett, Andrew J AJ; Yang, Jian J; Visscher, Peter M PM; Wray, Naomi R NR
Publication Date: 2019-04-23

Variant appearance in text: rs773107
PubMed Link: 31015401
Variant Present in the following documents:
  • 41467_2019_9572_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium.

Molecular Psychiatry
Trampush, J W JW; Yang, M L Z ML; Yu, J J; Knowles, E E; Davies, G G; Liewald, D C DC; Starr, J M JM; Djurovic, S S; Melle, I I; Sundet, K K; Christoforou, A A; Reinvang, I I; DeRosse, P P; Lundervold, A J AJ; Steen, V M VM; Espeseth, T T; Räikkönen, K K; Widen, E E; Palotie, A A; Eriksson, J G JG; Giegling, I I; Konte, B B; Roussos, P P; Giakoumaki, S S; Burdick, K E KE; Payton, A A; Ollier, W W; Horan, M M; Chiba-Falek, O O; Attix, D K DK; Need, A C AC; Cirulli, E T ET; Voineskos, A N AN; Stefanis, N C NC; Avramopoulos, D D; Hatzimanolis, A A; Arking, D E DE; Smyrnis, N N; Bilder, R M RM; Freimer, N A NA; Cannon, T D TD; London, E E; Poldrack, R A RA; Sabb, F W FW; Congdon, E E; Conley, E D ED; Scult, M A MA; Dickinson, D D; Straub, R E RE; Donohoe, G G; Morris, D D; Corvin, A A; Gill, M M; Hariri, A R AR; Weinberger, D R DR; Pendleton, N N; Bitsios, P P; Rujescu, D D; Lahti, J J; Le Hellard, S S; Keller, M C MC; Andreassen, O A OA; Deary, I J IJ; Glahn, D C DC; Malhotra, A K AK; Lencz, T T
Publication Date: 2017-03

Variant appearance in text: rs773107
PubMed Link: 28093568
Variant Present in the following documents:
  • mp2016244x2.xlsx, sheet 3
View BVdb publication page



Evidence for two independent associations with type 1 diabetes at the 12q13 locus.

Genes And Immunity
Keene, K L KL; Quinlan, A R AR; Hou, X X; Hall, I M IM; Mychaleckyj, J C JC; Onengut-Gumuscu, S S; Concannon, P P
Publication Date: 2012-01

Variant appearance in text: rs773107
PubMed Link: 21850031
Variant Present in the following documents:
  • Main text
View BVdb publication page



Advances and challenges in biomarker development for type 1 diabetes prediction and prevention using omic technologies.

Expert Opinion On Medical Diagnostics
Carey, Colleen C; Purohit, Sharad S; She, Jin-Xiong JX
Publication Date: 2010-09-01

Variant appearance in text: rs773107
PubMed Link: 20885991
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mapping of numerous disease-associated expression polymorphisms in primary peripheral blood CD4+ lymphocytes.

Human Molecular Genetics
Murphy, Amy A; Chu, Jen-Hwa JH; Xu, Mousheng M; Carey, Vincent J VJ; Lazarus, Ross R; Liu, Andy A; Szefler, Stanley J SJ; Strunk, Robert R; Demuth, Karen K; Castro, Mario M; Hansel, Nadia N NN; Diette, Gregory B GB; Vonakis, Becky M BM; Adkinson, N Franklin NF; Klanderman, Barbara J BJ; Senter-Sylvia, Jody J; Ziniti, John J; Lange, Christoph C; Pastinen, Tomi T; Raby, Benjamin A BA
Publication Date: 2010-12-01

Variant appearance in text: rs773107
PubMed Link: 20833654
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetically dependent ERBB3 expression modulates antigen presenting cell function and type 1 diabetes risk.

Plos One
Wang, Hongjie H; Jin, Yulan Y; Reddy, M V Prasad Linga MV; Podolsky, Robert R; Liu, Siyang S; Yang, Ping P; Bode, Bruce B; Reed, John Chip JC; Steed, R Dennis RD; Anderson, Stephen W SW; Steed, Leigh L; Hopkins, Diane D; Huang, Yihua Y; She, Jin-Xiong JX
Publication Date: 2010-07-26

Variant appearance in text: rs773107
PubMed Link: 20668683
Variant Present in the following documents:
  • Main text
  • pone.0011789.pdf
View BVdb publication page