HERC2 c.542+2530A>T

Variant ID: 15-28522684-T-A

NM_004667.5(HERC2):c.542+2530A>T

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs2346050
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.

American Journal Of Human Genetics
Kayser, Manfred M; Liu, Fan F; Janssens, A Cecile J W AC; Rivadeneira, Fernando F; Lao, Oscar O; van Duijn, Kate K; Vermeulen, Mark M; Arp, Pascal P; Jhamai, Mila M MM; van Ijcken, Wilfred F J WF; den Dunnen, Johan T JT; Heath, Simon S; Zelenika, Diana D; Despriet, Dominiek D G DD; Klaver, Caroline C W CC; Vingerling, Johannes R JR; de Jong, Paulus T V M PT; Hofman, Albert A; Aulchenko, Yurii S YS; Uitterlinden, Andre G AG; Oostra, Ben A BA; van Duijn, Cornelia M CM
Publication Date: 2008-02

Variant appearance in text: rs2346050
PubMed Link: 18252221
Variant Present in the following documents:
  • Main text
View BVdb publication page



Study of regions of extended homozygosity provides a powerful method to explore haplotype structure of human populations.

Annals Of Human Genetics
Curtis, D D; Vine, A E AE; Knight, J J
Publication Date: 2008-03

Variant appearance in text: rs2346050
PubMed Link: 18205893
Variant Present in the following documents:
  • Main text
  • ahg0072-0261.pdf
View BVdb publication page