HP c.-91A>G

Variant ID: 16-72088461-A-G

NM_005143.3(HP):c.-91A>G

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Gene expression in African Americans, Puerto Ricans and Mexican Americans reveals ancestry-specific patterns of genetic architecture.

Nature Genetics
Kachuri, Linda L; Mak, Angel C Y ACY; Hu, Donglei D; Eng, Celeste C; Huntsman, Scott S; Elhawary, Jennifer R JR; Gupta, Namrata N; Gabriel, Stacey S; Xiao, Shujie S; Keys, Kevin L KL; Oni-Orisan, Akinyemi A; Rodríguez-Santana, José R JR; LeNoir, Michael A MA; Borrell, Luisa N LN; Zaitlen, Noah A NA; Williams, L Keoki LK; Gignoux, Christopher R CR; Burchard, Esteban González EG; Ziv, Elad E
Publication Date: 2023-05-25

Variant appearance in text: rs5471
PubMed Link: 37231098
Variant Present in the following documents:
  • Main text
  • 41588_2023_Article_1377.pdf
View BVdb publication page



JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21

Variant appearance in text: rs5471
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
View BVdb publication page



Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics
Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM
Publication Date: 2020-11-30

Variant appearance in text: rs5471
PubMed Link: 33256598
Variant Present in the following documents:
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 3
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Haptoglobin polymorphisms in Latin American populations.

Scientific Reports
Soejima, Mikiko M; Koda, Yoshiro Y
Publication Date: 2020-08-13

Variant appearance in text: rs5471
PubMed Link: 32792581
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_70755.pdf
View BVdb publication page



Low plasma haptoglobin is a risk factor for life-threatening childhood severe malarial anemia and not an exclusive consequence of hemolysis.

Scientific Reports
Abah, Samuel Eneọjọ SE; Burté, Florence F; Marquet, Sandrine S; Brown, Biobele J BJ; Akinkunmi, Francis F; Oyinloye, Gbeminiyi G; Afolabi, Nathaniel K NK; Omokhodion, Samuel S; Lagunju, Ikeoluwa I; Shokunbi, Wuraola A WA; Wahlgren, Mats M; Dessein, Hélia H; Argiro, Laurent L; Dessein, Alain J AJ; Noyvert, Boris B; Hunt, Lilian L; Elgar, Greg G; Sodeinde, Olugbemiro O; Holder, Anthony A AA; Fernandez-Reyes, Delmiro D
Publication Date: 2018-12-03

Variant appearance in text: rs5471
PubMed Link: 30510258
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_35944.pdf
View BVdb publication page



Genetic analysis of haptoglobin polymorphisms with cardiovascular disease and type 2 diabetes in the Diabetes Heart Study.

Cardiovascular Diabetology
Adams, Jeremy N JN; Cox, Amanda J AJ; Freedman, Barry I BI; Langefeld, Carl D CD; Carr, J Jeffrey JJ; Bowden, Donald W DW
Publication Date: 2013-02-11

Variant appearance in text: rs5471
PubMed Link: 23399657
Variant Present in the following documents:
  • Main text
  • 1475-2840-12-31.pdf
View BVdb publication page



Haptoglobin and sickle cell polymorphisms and risk of active trachoma in Gambian children.

Plos One
Savy, Mathilde M; Hennig, Branwen J BJ; Doherty, Conor P CP; Fulford, Anthony J AJ; Bailey, Robin R; Holland, Martin J MJ; Sirugo, Giorgio G; Rockett, Kirk A KA; Kwiatkowski, Dominic P DP; Prentice, Andrew M AM; Cox, Sharon E SE
Publication Date: 2010-06-11

Variant appearance in text: rs5471
PubMed Link: 20552021
Variant Present in the following documents:
  • Main text
  • pone.0011075.pdf
View BVdb publication page



Haplotype association between haptoglobin (Hp2) and Hp promoter SNP (A-61C) may explain previous controversy of haptoglobin and malaria protection.

Plos One
Cox, Sharon E SE; Doherty, Conor C; Atkinson, Sarah H SH; Nweneka, Chidi V CV; Fulford, Anthony J C AJ; Ghattas, Hala H; Rockett, Kirk A KA; Kwiatkowski, Dominic P DP; Prentice, Andrew M AM
Publication Date: 2007-04-11

Variant appearance in text: rs5471
PubMed Link: 17426810
Variant Present in the following documents:
  • Main text
  • pone.0000362.pdf
View BVdb publication page