PTCH1 c.394+2319T>C

Variant ID: 9-98266370-A-G

NM_000264.3(PTCH1):c.394+2319T>C

This variant was identified in 4 publications

View GRCh38 version.




Publications:


[Exploring parent-of-origin effects for non-syndromic cleft lip with or without cleft palate on PTCH1, PTCH2, SHH, SMO genes in Chinese case-parent trios].

Beijing Da Xue Xue Bao. Yi Xue Ban = Journal Of Peking University. Health Sciences
Li, W Y WY; Wang, M Y MY; Zhou, R R; Wang, S Y SY; Zheng, H C HC; Zhu, H P HP; Zhou, Z B ZB; Wu, T T; Wang, H H; Shi, B B
Publication Date: 2020-10-18

Variant appearance in text: rs4448343
PubMed Link: 33047712
Variant Present in the following documents:
  • Main text
View BVdb publication page



HAPRAP: a haplotype-based iterative method for statistical fine mapping using GWAS summary statistics.

Bioinformatics (Oxford, England)
Zheng, Jie J; Rodriguez, Santiago S; Laurin, Charles C; Baird, Denis D; Trela-Larsen, Lea L; Erzurumluoglu, Mesut A MA; Zheng, Yi Y; White, Jon J; Giambartolomei, Claudia C; Zabaneh, Delilah D; Morris, Richard R; Kumari, Meena M; Casas, Juan P JP; Hingorani, Aroon D AD; , ; Evans, David M DM; Gaunt, Tom R TR; Day, Ian N M IN
Publication Date: 2017-01-01

Variant appearance in text: rs4448343
PubMed Link: 27591082
Variant Present in the following documents:
  • Main text
  • btw565.pdf
View BVdb publication page



Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures.

Nature Communications
Styrkarsdottir, Unnur U; Thorleifsson, Gudmar G; Gudjonsson, Sigurjon A SA; Sigurdsson, Asgeir A; Center, Jacqueline R JR; Lee, Seung Hun SH; Nguyen, Tuan V TV; Kwok, Timothy C Y TCY; Lee, Jenny S W JSW; Ho, Suzanne C SC; Woo, Jean J; Leung, Ping-C PC; Kim, Beom-Jun BJ; Rafnar, Thorunn T; Kiemeney, Lambertus A LA; Ingvarsson, Thorvaldur T; Koh, Jung-Min JM; Tang, Nelson L S NLS; Eisman, John A JA; Christiansen, Claus C; Sigurdsson, Gunnar G; Thorsteinsdottir, Unnur U; Stefansson, Kari K
Publication Date: 2016-01-06

Variant appearance in text: rs4448343
PubMed Link: 26733130
Variant Present in the following documents:
  • Main text
  • ncomms10129.pdf
View BVdb publication page



The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.

Bmc Medical Genetics
Zhao, Jianhua J; Li, Mingyao M; Bradfield, Jonathan P JP; Zhang, Haitao H; Mentch, Frank D FD; Wang, Kai K; Sleiman, Patrick M PM; Kim, Cecilia E CE; Glessner, Joseph T JT; Hou, Cuiping C; Keating, Brendan J BJ; Thomas, Kelly A KA; Garris, Maria L ML; Deliard, Sandra S; Frackelton, Edward C EC; Otieno, F George FG; Chiavacci, Rosetta M RM; Berkowitz, Robert I RI; Hakonarson, Hakon H; Grant, Struan F A SF
Publication Date: 2010-06-14

Variant appearance in text: rs4448343
PubMed Link: 20546612
Variant Present in the following documents:
  • Main text
  • 1471-2350-11-96.pdf
View BVdb publication page