Full data view for HERC2

Information The variants shown are described using the NM_004667.5 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change     

DB-ID     

Gene     

dbSNP ID     

Risk allele     

Population     

Pubmed Reference     

IGV     

1000G     

gnomAD     

ExAC     

GTEx     

Variant remarks     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
./. - c.322+2768T>G r.(=) p.(=) Unknown g.28535266A>C HERC2_000003 HERC2 rs1635168 A EUROPEAN Jin et al.(2016) 0.4101 0.371006 0.2124 . View in GTEx GWAS - - - - - - -
./. - c.13272+874T>C r.(=) p.(=) Unknown g.28365618A>G HERC2_000001 OCA2-HERC2 rs12913832 - EUROPEAN Jin et al.(2011) 0.06315 0.177316 0.5581 . View in GTEx GWAS - - - - - - -
./. - c.*50G>A r.(=) p.(=) Unknown g.28356859C>T HERC2_000002 OCA2-HERC2 rs1129038 - EUROPEAN Jin et al.(2011) 0.06198 0.176917 0.5552 0.5073 View in GTEx GWAS - - - - - - -
Legend