SHMT1 c.519+2789A>G

Variant ID: 17-18248021-T-C

NM_004169.3(SHMT1):c.519+2789A>G

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation.

Human Genetics
Longchamps, R J RJ; Yang, S Y SY; Castellani, C A CA; Shi, W W; Lane, J J; Grove, M L ML; Bartz, T M TM; Sarnowski, C C; Liu, C C; Burrows, K K; Guyatt, A L AL; Gaunt, T R TR; Kacprowski, T T; Yang, J J; De Jager, P L PL; Yu, L L; Bergman, A A; Xia, R R; Fornage, M M; Feitosa, M F MF; Wojczynski, M K MK; Kraja, A T AT; Province, M A MA; Amin, N N; Rivadeneira, F F; Tiemeier, H H; Uitterlinden, A G AG; Broer, L L; Van Meurs, J B J JBJ; Van Duijn, C M CM; Raffield, L M LM; Lange, L L; Rich, S S SS; Lemaitre, R N RN; Goodarzi, M O MO; Sitlani, C M CM; Mak, A C Y ACY; Bennett, D A DA; Rodriguez, S S; Murabito, J M JM; Lunetta, K L KL; Sotoodehnia, N N; Atzmon, G G; Ye, K K; Barzilai, N N; Brody, J A JA; Psaty, B M BM; Taylor, K D KD; Rotter, J I JI; Boerwinkle, E E; Pankratz, N N; Arking, D E DE
Publication Date: 2022-01

Variant appearance in text: rs9909104
PubMed Link: 34859289
Variant Present in the following documents:
  • 439_2021_2394_MOESM3_ESM.xlsx, sheet 4
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Genetic Susceptibility to Drug Teratogenicity: A Systematic Literature Review.

Frontiers In Genetics
Gomes, Julia do Amaral JDA; Olstad, Emilie Willoch EW; Kowalski, Thayne Woycinck TW; Gervin, Kristina K; Vianna, Fernanda Sales Luiz FSL; Schüler-Faccini, Lavínia L; Nordeng, Hedvig Marie Egeland HME
Publication Date: 2021

Variant appearance in text: rs9909104
PubMed Link: 33981330
Variant Present in the following documents:
  • Main text
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Genetics of blood malignancies among Iranian population: an overview.

Diagnostic Pathology
Ghayour-Mobarhan, Majid M; Zangouei, Amir Sadra AS; Hosseinirad, Seyed Mohammad SM; Mojarrad, Majid M; Moghbeli, Meysam M
Publication Date: 2020-05-06

Variant appearance in text: rs9909104
PubMed Link: 32375828
Variant Present in the following documents:
  • Main text
  • 13000_2020_Article_968.pdf
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Pathway analysis of genetic variants in folate-mediated one-carbon metabolism-related genes and survival in a prospectively followed cohort of colorectal cancer patients.

Cancer Medicine
Ose, Jennifer J; Botma, Akke A; Balavarca, Yesilda Y; Buck, Katharina K; Scherer, Dominique D; Habermann, Nina N; Beyerle, Jolantha J; Pfütze, Katrin K; Seibold, Petra P; Kap, Elisabeth J EJ; Benner, Axel A; Jansen, Lina L; Butterbach, Katja K; Hoffmeister, Michael M; Brenner, Hermann H; Ulrich, Alexis A; Schneider, Martin M; Chang-Claude, Jenny J; Burwinkel, Barbara B; Ulrich, Cornelia M CM
Publication Date: 2018-07

Variant appearance in text: rs9909104
PubMed Link: 29845757
Variant Present in the following documents:
  • Main text
  • CAM4-7-2797.pdf
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Pathway analysis of genetic variants in folate-mediated one-carbon metabolism-related genes and survival in a prospectively followed cohort of colorectal cancer patients.

Cancer Medicine
Ose, Jennifer J; Botma, Akke A; Balavarca, Yesilda Y; Buck, Katharina K; Scherer, Dominique D; Habermann, Nina N; Beyerle, Jolantha J; Pfütze, Katrin K; Seibold, Petra P; Kap, Elisabeth J EJ; Benner, Axel A; Jansen, Lina L; Butterbach, Katja K; Hoffmeister, Michael M; Brenner, Hermann H; Ulrich, Alexis A; Schneider, Martin M; Chang-Claude, Jenny J; Burwinkel, Barbara B; Ulrich, Cornelia M CM
Publication Date: 2018-05-29

Variant appearance in text: rs9909104
PubMed Link: 29845757
Variant Present in the following documents:
  • Main text
  • CAM4-7-2797.pdf
View BVdb publication page



Maternal and infant genetic variants, maternal periconceptional use of selective serotonin reuptake inhibitors, and risk of congenital heart defects in offspring: population based study.

Bmj (Clinical Research Ed.)
Nembhard, Wendy N WN; Tang, Xinyu X; Hu, Zhuopei Z; MacLeod, Stewart S; Stowe, Zachary Z; Webber, Daniel D; ,
Publication Date: 2017-03-06

Variant appearance in text: rs9909104
PubMed Link: 28264803
Variant Present in the following documents:
  • Main text
View BVdb publication page



Consortium analysis of gene and gene-folate interactions in purine and pyrimidine metabolism pathways with ovarian carcinoma risk.

Molecular Nutrition & Food Research
Kelemen, Linda E LE; Terry, Kathryn L KL; Goodman, Marc T MT; Webb, Penelope M PM; Bandera, Elisa V EV; McGuire, Valerie V; Rossing, Mary Anne MA; Wang, Qinggang Q; Dicks, Ed E; Tyrer, Jonathan P JP; Song, Honglin H; Kupryjanczyk, Jolanta J; Dansonka-Mieszkowska, Agnieszka A; Plisiecka-Halasa, Joanna J; Timorek, Agnieszka A; Menon, Usha U; Gentry-Maharaj, Aleksandra A; Gayther, Simon A SA; Ramus, Susan J SJ; Narod, Steven A SA; Risch, Harvey A HA; McLaughlin, John R JR; Siddiqui, Nadeem N; Glasspool, Rosalind R; Paul, James J; Carty, Karen K; Gronwald, Jacek J; Lubiński, Jan J; Jakubowska, Anna A; Cybulski, Cezary C; Kiemeney, Lambertus A LA; Massuger, Leon F A G LF; van Altena, Anne M AM; Aben, Katja K H KK; Olson, Sara H SH; Orlow, Irene I; Cramer, Daniel W DW; Levine, Douglas A DA; Bisogna, Maria M; Giles, Graham G GG; Southey, Melissa C MC; Bruinsma, Fiona F; Kjaer, Susanne K SK; Høgdall, Estrid E; Jensen, Allan A; Høgdall, Claus K CK; Lundvall, Lene L; Engelholm, Svend-Aage SA; Heitz, Florian F; du Bois, Andreas A; Harter, Philipp P; Schwaab, Ira I; Butzow, Ralf R; Nevanlinna, Heli H; Pelttari, Liisa M LM; Leminen, Arto A; Thompson, Pamela J PJ; Lurie, Galina G; Wilkens, Lynne R LR; Lambrechts, Diether D; Van Nieuwenhuysen, Els E; Lambrechts, Sandrina S; Vergote, Ignace I; Beesley, Jonathan J; , ; Fasching, Peter A PA; Beckmann, Matthias W MW; Hein, Alexander A; Ekici, Arif B AB; Doherty, Jennifer A JA; Wu, Anna H AH; Pearce, Celeste L CL; Pike, Malcolm C MC; Stram, Daniel D; Chang-Claude, Jenny J; Rudolph, Anja A; Dörk, Thilo T; Dürst, Matthias M; Hillemanns, Peter P; Runnebaum, Ingo B IB; Bogdanova, Natalia N; Antonenkova, Natalia N; Odunsi, Kunle K; Edwards, Robert P RP; Kelley, Joseph L JL; Modugno, Francesmary F; Ness, Roberta B RB; Karlan, Beth Y BY; Walsh, Christine C; Lester, Jenny J; Orsulic, Sandra S; Fridley, Brooke L BL; Vierkant, Robert A RA; Cunningham, Julie M JM; Wu, Xifeng X; Lu, Karen K; Liang, Dong D; Hildebrandt, Michelle A T MA; Weber, Rachel Palmieri RP; Iversen, Edwin S ES; Tworoger, Shelley S SS; Poole, Elizabeth M EM; Salvesen, Helga B HB; Krakstad, Camilla C; Bjorge, Line L; Tangen, Ingvild L IL; Pejovic, Tanja T; Bean, Yukie Y; Kellar, Melissa M; Wentzensen, Nicolas N; Brinton, Louise A LA; Lissowska, Jolanta J; Garcia-Closas, Montserrat M; Campbell, Ian G IG; Eccles, Diana D; Whittemore, Alice S AS; Sieh, Weiva W; Rothstein, Joseph H JH; Anton-Culver, Hoda H; Ziogas, Argyrios A; Phelan, Catherine M CM; Moysich, Kirsten B KB; Goode, Ellen L EL; Schildkraut, Joellen M JM; Berchuck, Andrew A; Pharoah, Paul D P PD; Sellers, Thomas A TA; Brooks-Wilson, Angela A; Cook, Linda S LS; Le, Nhu D ND
Publication Date: 2014-10

Variant appearance in text: rs9909104
PubMed Link: 25066213
Variant Present in the following documents:
  • Main text
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Roles of genetic polymorphisms in the folate pathway in childhood acute lymphoblastic leukemia evaluated by Bayesian relevance and effect size analysis.

Plos One
Lautner-Csorba, Orsolya O; Gézsi, András A; Erdélyi, Dániel J DJ; Hullám, Gábor G; Antal, Péter P; Semsei, Ágnes F ÁF; Kutszegi, Nóra N; Kovács, Gábor G; Falus, András A; Szalai, Csaba C
Publication Date: 2013

Variant appearance in text: rs9909104
PubMed Link: 23940529
Variant Present in the following documents:
  • Main text
  • pone.0069843.pdf
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Maternal and infant gene-folate interactions and the risk of neural tube defects.

American Journal Of Medical Genetics. Part A
Etheredge, Analee J AJ; Finnell, Richard H RH; Carmichael, Suzan L SL; Lammer, Edward J EJ; Zhu, Huiping H; Mitchell, Laura E LE; Shaw, Gary M GM
Publication Date: 2012-10

Variant appearance in text: rs9909104
PubMed Link: 22903727
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene variants in the folate-mediated one-carbon metabolism (FOCM) pathway as risk factors for conotruncal heart defects.

American Journal Of Medical Genetics. Part A
Zhu, Huiping H; Yang, Wei W; Lu, Wei W; Etheredge, Analee J AJ; Lammer, Edward J EJ; Finnell, Richard H RH; Carmichael, Suzan L SL; Shaw, Gary M GM
Publication Date: 2012-05

Variant appearance in text: rs9909104
PubMed Link: 22495907
Variant Present in the following documents:
  • Main text
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A comprehensive association analysis of homocysteine metabolic pathway genes in Singaporean Chinese with ischemic stroke.

Plos One
Low, Hui-Qi HQ; Chen, Christopher P L H CP; Kasiman, Katherine K; Thalamuthu, Anbupalam A; Ng, Seok-Shin SS; Foo, Jia-Nee JN; Chang, Hui-Meng HM; Wong, Meng-Cheong MC; Tai, E-Shyong ES; Liu, Jianjun J
Publication Date: 2011

Variant appearance in text: rs9909104
PubMed Link: 21935458
Variant Present in the following documents:
  • Main text
  • pone.0024757.pdf
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Genetic variation in TYMS in the one-carbon transfer pathway is associated with ovarian carcinoma types in the Ovarian Cancer Association Consortium.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Kelemen, Linda E LE; Goodman, Marc T MT; McGuire, Valerie V; Rossing, Mary Anne MA; Webb, Penelope M PM; , ; Köbel, Martin M; Anton-Culver, Hoda H; Beesley, Jonathan J; Berchuck, Andrew A; Brar, Sony S; Carney, Michael E ME; Chang-Claude, Jenny J; Chenevix-Trench, Georgia G; , ; Cramer, Daniel W DW; Cunningham, Julie M JM; Dicioccio, Richard A RA; Doherty, Jennifer A JA; Easton, Douglas F DF; Fredericksen, Zachary S ZS; Fridley, Brooke L BL; Gates, Margaret A MA; Gayther, Simon A SA; Gentry-Maharaj, Aleksandra A; Høgdall, Estrid E; Kjaer, Susanne Krüger SK; Lurie, Galina G; Menon, Usha U; Moorman, Patricia G PG; Moysich, Kirsten K; Ness, Roberta B RB; Palmieri, Rachel T RT; Pearce, Celeste L CL; Pharoah, Paul D P PD; Ramus, Susan J SJ; Song, Honglin H; Stram, Daniel O DO; Tworoger, Shelley S SS; Van Den Berg, David D; Vierkant, Robert A RA; Wang-Gohrke, Shan S; Whittemore, Alice S AS; Wilkens, Lynne R LR; Wu, Anna H AH; Schildkraut, Joellen M JM; Sellers, Thomas A TA; Goode, Ellen L EL; ,
Publication Date: 2010-07

Variant appearance in text: rs9909104
PubMed Link: 20570913
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in the one-carbon transfer pathway and ovarian cancer risk.

Cancer Research
Kelemen, Linda E LE; Sellers, Thomas A TA; Schildkraut, Joellen M JM; Cunningham, Julie M JM; Vierkant, Robert A RA; Pankratz, V Shane VS; Fredericksen, Zachary S ZS; Gadre, Madhura K MK; Rider, David N DN; Liebow, Mark M; Goode, Ellen L EL
Publication Date: 2008-04-01

Variant appearance in text: rs9909104
PubMed Link: 18381459
Variant Present in the following documents:
  • Main text
View BVdb publication page