MPHOSPH9 c.2025+713C>T

Variant ID: 12-123682081-G-A

NM_022782.3(MPHOSPH9):c.2025+713C>T

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs1716180
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
View BVdb publication page



DISTMIX: direct imputation of summary statistics for unmeasured SNPs from mixed ethnicity cohorts.

Bioinformatics (Oxford, England)
Lee, Donghyung D; Bigdeli, T Bernard TB; Williamson, Vernell S VS; Vladimirov, Vladimir I VI; Riley, Brien P BP; Fanous, Ayman H AH; Bacanu, Silviu-Alin SA
Publication Date: 2015-10-01

Variant appearance in text: rs1716180
PubMed Link: 26059716
Variant Present in the following documents:
  • supp_btv348_distmix_supplementary_data.pdf
View BVdb publication page