THBS1 c.583G>A ;(p.A195T)

Variant ID: 15-39874909-G-A

NM_003246.2(THBS1):c.583G>A;(p.A195T)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: THBS1: A195T
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
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: THBS1: A195T; rs145686223
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page



Discovery of novel non-synonymous SNP variants in 988 candidate genes from 6 centenarians by target capture and next-generation sequencing.

Mechanisms Of Ageing And Development
Han, Jeehae J; Ryu, Seungjin S; Moskowitz, David M DM; Rothenberg, Devorah D; Leahy, Daniel J DJ; Atzmon, Gil G; Barzilai, Nir N; Suh, Yousin Y
Publication Date: 2013-10

Variant appearance in text: THBS1: 583G>A; A195T
PubMed Link: 23376243
Variant Present in the following documents:
  • Main text
View BVdb publication page