SCARB1 c.*94G>A

Variant ID: 12-125263039-C-T

NM_005505.5(SCARB1):c.*94G>A

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: rs701103
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genetic contribution of SCARB1 variants to lipid traits in African Blacks: a candidate gene association study.

Bmc Medical Genetics
Niemsiri, Vipavee V; Wang, Xingbin X; Pirim, Dilek D; Radwan, Zaheda H ZH; Bunker, Clareann H CH; Barmada, M Michael MM; Kamboh, M Ilyas MI; Demirci, F Yesim FY
Publication Date: 2015-11-12

Variant appearance in text: rs701103
PubMed Link: 26563154
Variant Present in the following documents:
  • Main text
  • 12881_2015_250_MOESM16_ESM.pdf
  • 12881_2015_Article_250.pdf
  • 12881_2015_250_MOESM3_ESM.pdf
  • 12881_2015_250_MOESM9_ESM.pdf
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: rs701103
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.

Journal Of Lipid Research
Johansen, Christopher T CT; Dubé, Joseph B JB; Loyzer, Melissa N MN; MacDonald, Austin A; Carter, David E DE; McIntyre, Adam D AD; Cao, Henian H; Wang, Jian J; Robinson, John F JF; Hegele, Robert A RA
Publication Date: 2014-04

Variant appearance in text: rs701103
PubMed Link: 24503134
Variant Present in the following documents:
  • supp_D045963_jlr.D045963-1.pdf
View BVdb publication page



Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11

Variant appearance in text: rs701103
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page