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OCA2 c.-22+2761G>T
Variant ID: 15-28341609-C-A
NM_000275.3(
OCA2
):c.-22+2761G>T
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Combining common genetic variants and non-genetic risk factors to predict risk of cutaneous melanoma.
Human Molecular Genetics
Gu, Fangyi F; Chen, Ting-Huei TH; Pfeiffer, Ruth M RM; Fargnoli, Maria Concetta MC; Calista, Donato D; Ghiorzo, Paola P; Peris, Ketty K; Puig, Susana S; Menin, Chiara C; De Nicolo, Arcangela A; Rodolfo, Monica M; Pellegrini, Cristina C; Pastorino, Lorenza L; Evangelou, Evangelos E; Zhang, Tongwu T; Hua, Xing X; DellaValle, Curt T CT; Timothy Bishop, D D; MacGregor, Stuart S; Iles, Mark I MI; Law, Matthew H MH; Cust, Anne A; Brown, Kevin M KM; Stratigos, Alexander J AJ; Nagore, Eduardo E; Chanock, Stephen S; Shi, Jianxin J; Consortium, Melanoma Meta-Analysis MM; Consortium, MelaNostrum M; Landi, Maria Teresa MT
Publication Date: 2018-12-01
Variant appearance in text: rs7164220
PubMed Link:
30060076
Variant Present in the following documents:
Main text
View BVdb publication page
HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter.
Genome Research
Visser, Mijke M; Kayser, Manfred M; Palstra, Robert-Jan RJ
Publication Date: 2012-03
Variant appearance in text: rs7164220
PubMed Link:
22234890
Variant Present in the following documents:
Main text
View BVdb publication page