View transcript variants in TYR

Information The variants shown are described using the NM_000372.4 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change     

DB-ID     

Gene     

dbSNP ID     

Risk allele     

Population     

Pubmed Reference     

IGV     

1000G     

gnomAD     

ExAC     

GTEx     

Variant remarks     

Owner     
./. - c.575C>A r.(?) p.(Ser192Tyr) g.88911696C>A TYR_000001 TYR rs1042602 - EUROPEAN Jin et al.(2012) 0.07645 0.123403 0.2157 0.2518 View in GTEx NGS IGIB
./. - c.1036+5791A>G r.(=) p.(=) g.88930377A>G TYR_000002 TYR rs11018528 A EUROPEAN Jin et al.(2010) 0.90599 0.799521 0.7474 . View in GTEx GWAS IGIB
./. - c.1118C>A r.(?) p.(Thr373Lys) g.88961072C>A TYR_000003 TYR rs61754388 - EUROPEAN Jin et al.(2012) NA . 0.0004 0.0003 View in GTEx NGS IGIB
./. - c.1184+8636T>C r.(=) p.(=) g.88969774T>C TYR_000004 TYR rs10765198 T EUROPEAN Jin et al.(2010) 0.8988 0.715655 0.6799 . View in GTEx GWAS IGIB
./. - c.1185-12688A>C r.(=) p.(=) g.89005253A>C TYR_000005 TYR rs1847134 A EUROPEAN Jin et al.(2010) NA 0.800519 0.7323 . View in GTEx GWAS IGIB
./. - c.1185-6895G>A r.(=) p.(=) g.89011046G>A TYR_000006 TYR rs1393350 G EUROPEAN Jin et al.(2010) 0.96901 0.9207268 0.8327 . View in GTEx GWAS IGIB
./. - c.1205G>A r.(?) p.(Arg402Gln) g.89017961G>A TYR_000007 TYR rs1126809 A EUROPEAN Jin et al.(2016) NA 0.08127 0.1749 0.177 View in GTEx GWAS IGIB
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