PTCH1 c.3306+1210T>C

Variant ID: 9-98217348-A-G

NM_000264.3(PTCH1):c.3306+1210T>C

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Birthweight, BMI in adulthood and latent autoimmune diabetes in adults: a Mendelian randomisation study.

Diabetologia
Wei, Yuxia Y; Zhan, Yiqiang Y; Löfvenborg, Josefin E JE; Tuomi, Tiinamaija T; Carlsson, Sofia S
Publication Date: 2022-09

Variant appearance in text: rs28457693
PubMed Link: 35606578
Variant Present in the following documents:
  • 125_2022_5725_MOESM1_ESM.pdf
View BVdb publication page



Age-specific effects of childhood body mass index on multiple sclerosis risk.

Journal Of Neurology
Hone, Luke L; Jacobs, Benjamin M BM; Marshall, Charles C; Giovannoni, Gavin G; Noyce, Alastair A; Dobson, Ruth R
Publication Date: 2022-09

Variant appearance in text: rs28457693
PubMed Link: 35532785
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common genetic variants with fetal effects on birth weight are enriched for proximity to genes implicated in rare developmental disorders.

Human Molecular Genetics
Beaumont, Robin N RN; Mayne, Isabelle K IK; Freathy, Rachel M RM; Wright, Caroline F CF
Publication Date: 2021-05-31

Variant appearance in text: rs28457693
PubMed Link: 33682876
Variant Present in the following documents:
  • Main text
  • ddab060.pdf
View BVdb publication page



CCND2, CTNNB1, DDX3X, GLI2, SMARCA4, MYC, MYCN, PTCH1, TP53, and MLL2 gene variants and risk of childhood medulloblastoma.

Journal Of Neuro-Oncology
Dahlin, Anna M AM; Hollegaard, Mads V MV; Wibom, Carl C; Andersson, Ulrika U; Hougaard, David M DM; Deltour, Isabelle I; Hjalmars, Ulf U; Melin, Beatrice B
Publication Date: 2015-10

Variant appearance in text: rs28457693
PubMed Link: 26290144
Variant Present in the following documents:
  • 11060_2015_1891_MOESM1_ESM.pdf
View BVdb publication page