NPC1 c.58-486C>T

Variant ID: 18-21154024-G-A

NM_000271.4(NPC1):c.58-486C>T

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure.

Nature Communications
Levin, Michael G MG; Tsao, Noah L NL; Singhal, Pankhuri P; Liu, Chang C; Vy, Ha My T HMT; Paranjpe, Ishan I; Backman, Joshua D JD; Bellomo, Tiffany R TR; Bone, William P WP; Biddinger, Kiran J KJ; Hui, Qin Q; Dikilitas, Ozan O; Satterfield, Benjamin A BA; Yang, Yifan Y; Morley, Michael P MP; Bradford, Yuki Y; Burke, Megan M; Reza, Nosheen N; Charest, Brian B; , ; Judy, Renae L RL; Puckelwartz, Megan J MJ; Hakonarson, Hakon H; Khan, Atlas A; Kottyan, Leah C LC; Kullo, Iftikhar I; Luo, Yuan Y; McNally, Elizabeth M EM; Rasmussen-Torvik, Laura J LJ; Day, Sharlene M SM; Do, Ron R; Phillips, Lawrence S LS; Ellinor, Patrick T PT; Nadkarni, Girish N GN; Ritchie, Marylyn D MD; Arany, Zoltan Z; Cappola, Thomas P TP; Margulies, Kenneth B KB; Aragam, Krishna G KG; Haggerty, Christopher M CM; Joseph, Jacob J; Sun, Yan V YV; Voight, Benjamin F BF; Damrauer, Scott M SM
Publication Date: 2022-11-14

Variant appearance in text: rs1788826
PubMed Link: 36376295
Variant Present in the following documents:
  • 41467_2022_Article_34216.pdf
View BVdb publication page



Biological constraints on GWAS SNPs at suggestive significance thresholds reveal additional BMI loci.

Elife
Hammond, Reza K RK; Pahl, Matthew C MC; Su, Chun C; Cousminer, Diana L DL; Leonard, Michelle E ME; Lu, Sumei S; Doege, Claudia A CA; Wagley, Yadav Y; Hodge, Kenyaita M KM; Lasconi, Chiara C; Johnson, Matthew E ME; Pippin, James A JA; Hankenson, Kurt D KD; Leibel, Rudolph L RL; Chesi, Alessandra A; Wells, Andrew D AD; Grant, Struan Fa SF
Publication Date: 2021-01-18

Variant appearance in text: rs1788826
PubMed Link: 33459256
Variant Present in the following documents:
  • Main text
  • elife-62206.pdf
View BVdb publication page



Biological constraints on GWAS SNPs at suggestive significance thresholds reveal additional BMI loci.

Elife
Hammond, Reza K RK; Pahl, Matthew C MC; Su, Chun C; Cousminer, Diana L DL; Leonard, Michelle E ME; Lu, Sumei S; Doege, Claudia A CA; Wagley, Yadav Y; Hodge, Kenyaita M KM; Lasconi, Chiara C; Johnson, Matthew E ME; Pippin, James A JA; Hankenson, Kurt D KD; Leibel, Rudolph L RL; Chesi, Alessandra A; Wells, Andrew D AD; Grant, Struan Fa SF
Publication Date: 2021-01-18

Variant appearance in text: rs1788826
PubMed Link: 33459256
Variant Present in the following documents:
  • Main text
  • elife-62206.pdf
View BVdb publication page



Penetrance of Polygenic Obesity Susceptibility Loci across the Body Mass Index Distribution.

American Journal Of Human Genetics
Abadi, Arkan A; Alyass, Akram A; Robiou du Pont, Sebastien S; Bolker, Ben B; Singh, Pardeep P; Mohan, Viswanathan V; Diaz, Rafael R; Engert, James C JC; Yusuf, Salim S; Gerstein, Hertzel C HC; Anand, Sonia S SS; Meyre, David D
Publication Date: 2017-12-07

Variant appearance in text: rs1788826
PubMed Link: 29220676
Variant Present in the following documents:
  • Main text
View BVdb publication page