CRBN
Disease associated variation - ClinVar
Allele IDTypeNameRS#dbSNPPhenotype IDsChromosomeStartStopReferenceAlternate
16860single nucleotide variantNM_016302.3(CRBN):c.1255C>T (p.Arg419Ter)121918368MedGen:C1843942,OMIM:607417331926233192623GA
16860single nucleotide variantNM_016302.3(CRBN):c.1255C>T (p.Arg419Ter)121918368MedGen:C1843942,OMIM:607417331509393150939GA
134302single nucleotide variantNM_016302.3(CRBN):c.175-5T>A151039737MedGen:CN169374331742663174266AT
134302single nucleotide variantNM_016302.3(CRBN):c.175-5T>A151039737MedGen:CN169374332159503215950AT
134303single nucleotide variantNM_016302.3(CRBN):c.175-9T>C1669321MedGen:CN169374331742703174270AG
134303single nucleotide variantNM_016302.3(CRBN):c.175-9T>C1669321MedGen:CN169374332159543215954AG
134304single nucleotide variantNM_016302.3(CRBN):c.219C>T (p.His73=)1045309MedGen:CN169374331742173174217GA
134304single nucleotide variantNM_016302.3(CRBN):c.219C>T (p.His73=)1045309MedGen:CN169374332159013215901GA
134305single nucleotide variantNM_016302.3(CRBN):c.735T>C (p.Tyr245=)17027638MedGen:CN169374331562343156234AG
134305single nucleotide variantNM_016302.3(CRBN):c.735T>C (p.Tyr245=)17027638MedGen:CN169374331979183197918AG
205733single nucleotide variantNM_016302.3(CRBN):c.1171T>C (p.Cys391Arg)797045036MedGen:C1843942,OMIM:607417331927073192707AG
205733single nucleotide variantNM_016302.3(CRBN):c.1171T>C (p.Cys391Arg)797045036MedGen:C1843942,OMIM:607417331510233151023AG
207065single nucleotide variantNM_016302.3(CRBN):c.1274C>T (p.Thr425Met)566932471MedGen:CN169374331926043192604GA
207065single nucleotide variantNM_016302.3(CRBN):c.1274C>T (p.Thr425Met)566932471MedGen:CN169374331509203150920GA
207066single nucleotide variantNM_016302.3(CRBN):c.937G>C (p.Asp313His)142337178MedGen:CN169374331539743153974CG
207066single nucleotide variantNM_016302.3(CRBN):c.937G>C (p.Asp313His)142337178MedGen:CN169374331956583195658CG
207067single nucleotide variantNM_016302.3(CRBN):c.654A>G (p.Gln218=)373145132MedGen:CN169374332093513209351TC
207067single nucleotide variantNM_016302.3(CRBN):c.654A>G (p.Gln218=)373145132MedGen:CN169374331676673167667TC
207068single nucleotide variantNM_016302.3(CRBN):c.377+13A>C115124101MedGen:CN169374332157303215730TG
207068single nucleotide variantNM_016302.3(CRBN):c.377+13A>C115124101MedGen:CN169374331740463174046TG
207069single nucleotide variantNM_016302.3(CRBN):c.286A>G (p.Thr96Ala)797045481MedGen:CN169374332158343215834TC
207069single nucleotide variantNM_016302.3(CRBN):c.286A>G (p.Thr96Ala)797045481MedGen:CN169374331741503174150TC
207070single nucleotide variantNM_016302.3(CRBN):c.88G>A (p.Glu30Lys)78564552MedGen:CN221809;MedGen:CN169374331752493175249CT
207070single nucleotide variantNM_016302.3(CRBN):c.88G>A (p.Glu30Lys)78564552MedGen:CN221809;MedGen:CN169374332169333216933CT
207071single nucleotide variantNM_016302.3(CRBN):c.34C>T (p.His12Tyr)797045482MedGen:CN169374331796543179654GA
207071single nucleotide variantNM_016302.3(CRBN):c.34C>T (p.His12Tyr)797045482MedGen:CN169374332213383221338GA
Disease associated variation - GWASdb
ChrPosSNP ID(dbSNP 142)RefAltOri SNP IDP-valueDrug NameDrug AnnoGWAS TraitHPO IDDO IDAATypeTrait or Drug
33193676rs1669342AGrs16693428.14E-05Adverse response to chemotherapy (neutropenia/leucopenia) (cisplatin)HPOID:0001875|HPOID:0001882DOID:1227TintronGWASdb_trait
33197918rs17027638AGrs170276382.18E-04Birth weightHPOID:0004323DOID:783|DOID:9352|DOID:1287Acds-synonGWASdb_trait
33199635rs1669338ACrs16693386.00E-06White matter integrityHPOID:0002500DOID:3312|DOID:936TintronGWASdb_trait
33205432rs698204GCrs6982049.04E-05Serum metabolitesHPOID:0011111NACintronGWASdb_trait
33213262rs1669325AGrs16693251.84E-05Word readingHPOID:0010522|HPOID:0100543|HPOID:0002463DOID:92|DOID:93|DOID:1561|DOID:13365CintronGWASdb_trait
Disease associated variation - OMIM
Ensembl_gene_ID Approved Gene Symbol MIM Number
ENSG00000113851.13 CRBN 609262