View transcript variants in VDR

Information The variants shown are described using the NM_001017536.1 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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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.152T>G r.(?) p.(Met51Arg) g.48272895A>C VDR_000002 VDR rs2228570 -;- NA; CHINESE Aydıngöz et al.(2012);Li et al.(2012) NA . . . View in GTEx CANDIDATE, EXPRESSION IGIB
./. - c.1174+283G>A r.(=) p.(=) g.48239835C>T VDR_000001 VDR rs1544410 -;- NA; CHINESE; EAST ASIAN Aydıngöz et al.(2012);Li et al.(2012); Li et al.(2015) 0.4215 0.295927 0.3371 . View in GTEx CANDIDATE,EXPRESSION IGIB
./. - c.1175-49G>T r.(=) p.(=) g.48238837C>A VDR_000003 VDR rs7975232 -;-;-;- NA; CHINESE; EAST ASIAN; EGYPT Aydıngöz et al.(2012);Li et al.(2012); Li et al.(2015); Sobeih et al.(2016) NA 0.515375 0.5429 0.5187 View in GTEx CANDIDATE,EXPRESSION IGIB
./. - c.1206T>C r.(=) p.(=) g.48238757A>G VDR_000004 VDR rs731236 A;- NA; CHINESE Aydıngöz et al.(2012);Li et al.(2012) 0.6732 0.723442 0.6709 0.6662 View in GTEx CANDIDATE, EXPRESSION IGIB
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