Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 137556 single nucleotide variant NM_001321786.1(CBLB):c.1462A>G (p.Met488Val) 114461789 MedGen:CN169374 3 105438920 105438920 T C 137556 single nucleotide variant NM_001321786.1(CBLB):c.1462A>G (p.Met488Val) 114461789 MedGen:CN169374 3 105720076 105720076 T C 137557 single nucleotide variant NM_001321786.1(CBLB):c.1480A>G (p.Asn494Asp) 61758360 MedGen:CN169374 3 105438902 105438902 T C 137557 single nucleotide variant NM_001321786.1(CBLB):c.1480A>G (p.Asn494Asp) 61758360 MedGen:CN169374 3 105720058 105720058 T C 137558 single nucleotide variant NM_001321786.1(CBLB):c.1388G>A (p.Cys463Tyr) 116474782 MedGen:CN169374 3 105438994 105438994 C T 137558 single nucleotide variant NM_001321786.1(CBLB):c.1388G>A (p.Cys463Tyr) 116474782 MedGen:CN169374 3 105720150 105720150 C T 137559 insertion NM_001321786.1(CBLB):c.1946_1947insAGC (p.Ala649_Ser650insAla) 587778163 MedGen:CN169374 3 105421034 105421035 - GCT 137559 insertion NM_001321786.1(CBLB):c.1946_1947insAGC (p.Ala649_Ser650insAla) 587778163 MedGen:CN169374 3 105702190 105702191 - GCT 137560 single nucleotide variant NM_001321786.1(CBLB):c.2018A>G (p.His673Arg) 41311396 MedGen:CN169374 3 105420963 105420963 T C 137560 single nucleotide variant NM_001321786.1(CBLB):c.2018A>G (p.His673Arg) 41311396 MedGen:CN169374 3 105702119 105702119 T C 137561 single nucleotide variant NM_001321786.1(CBLB):c.1754C>T (p.Pro585Leu) 148064625 MedGen:CN169374 3 105421227 105421227 G A 137561 single nucleotide variant NM_001321786.1(CBLB):c.1754C>T (p.Pro585Leu) 148064625 MedGen:CN169374 3 105702383 105702383 G A 137562 single nucleotide variant NM_001321786.1(CBLB):c.1949G>C (p.Ser650Thr) 41302192 MedGen:CN169374 3 105421032 105421032 C G 137562 single nucleotide variant NM_001321786.1(CBLB):c.1949G>C (p.Ser650Thr) 41302192 MedGen:CN169374 3 105702188 105702188 C G 137563 single nucleotide variant NM_001321786.1(CBLB):c.1997T>C (p.Leu666Pro) 587778164 MedGen:CN169374 3 105420984 105420984 A G 137563 single nucleotide variant NM_001321786.1(CBLB):c.1997T>C (p.Leu666Pro) 587778164 MedGen:CN169374 3 105702140 105702140 A G 137564 single nucleotide variant NM_001321786.1(CBLB):c.2731A>G (p.Asn911Asp) 35835913 MedGen:CN169374 3 105389119 105389119 T C 137564 single nucleotide variant NM_001321786.1(CBLB):c.2731A>G (p.Asn911Asp) 35835913 MedGen:CN169374 3 105670275 105670275 T C 137565 single nucleotide variant NM_001321786.1(CBLB):c.2786C>G (p.Ala929Gly) 55821768 MedGen:CN169374 3 105378061 105378061 G C 137565 single nucleotide variant NM_001321786.1(CBLB):c.2786C>G (p.Ala929Gly) 55821768 MedGen:CN169374 3 105659217 105659217 G C 137566 single nucleotide variant NM_001321786.1(CBLB):c.2965G>A (p.Glu989Lys) 561530977 MedGen:CN169374 3 105377882 105377882 C T 137566 single nucleotide variant NM_001321786.1(CBLB):c.2965G>A (p.Glu989Lys) 561530977 MedGen:CN169374 3 105659038 105659038 C T 137567 single nucleotide variant NM_001321786.1(CBLB):c.905A>C (p.Gln302Pro) 587778165 MedGen:CN169374 3 105464785 105464785 T G 137567 single nucleotide variant NM_001321786.1(CBLB):c.905A>C (p.Gln302Pro) 587778165 MedGen:CN169374 3 105745941 105745941 T G 137568 single nucleotide variant NM_001321786.1(CBLB):c.827G>A (p.Arg276Gln) 560042700 MedGen:CN169374 3 105464863 105464863 C T 137568 single nucleotide variant NM_001321786.1(CBLB):c.827G>A (p.Arg276Gln) 560042700 MedGen:CN169374 3 105746019 105746019 C T 137569 single nucleotide variant NM_001321786.1(CBLB):c.1277C>T (p.Thr426Met) 568168857 MedGen:CN169374 3 105452863 105452863 G A 137569 single nucleotide variant NM_001321786.1(CBLB):c.1277C>T (p.Thr426Met) 568168857 MedGen:CN169374 3 105734019 105734019 G A 139247 single nucleotide variant NM_001321786.1(CBLB):c.71-1G>T 55944080 MedGen:CN169374 3 105586436 105586436 C A 139247 single nucleotide variant NM_001321786.1(CBLB):c.71-1G>T 55944080 MedGen:CN169374 3 105867592 105867592 C A 139248 single nucleotide variant NM_001321790.1(CBLB):c.20C>G (p.Pro7Arg) 552303618 MedGen:CN169374 3 105588213 105588213 G C 139248 single nucleotide variant NM_001321790.1(CBLB):c.20C>G (p.Pro7Arg) 552303618 MedGen:CN169374 3 105869369 105869369 G C

Disease associated variation - GWASdb Chr Pos SNP ID(dbSNP 142) Ref Alt Ori SNP ID P-value Drug Name Drug Anno GWAS Trait HPO ID DO ID AA Type Trait or Drug 3 105573413 rs16851673 G A rs16851673 2.80E-04 CHOLESTEROL ABCG8 PROTEIN, HUMAN Gallstones HPOID:0001081 DOID:11151 G intron GWASdb_drug 3 105422844 rs2305037 C T rs2305037 2.54E-04 Celiac disease HPOID:0001438 DOID:10608 G cds-synon GWASdb_trait 3 105447746 rs1867189 G A rs1867189 2.30E-04 Celiac disease HPOID:0001438 DOID:10608 G intron GWASdb_trait 3 105449793 rs9876767 T G rs9876767 1.95E-04 Celiac disease HPOID:0001438 DOID:10608 T intron GWASdb_trait 3 105449986 rs9880861 T C rs9880861 2.71E-04 Celiac disease HPOID:0001438 DOID:10608 C intron GWASdb_trait 3 105488572 rs3772513 A G rs3772513 9.31E-04 Lymphocyte counts HPOID:0004332|HPOID:0002665 DOID:2841|DOID:1240|DOID:0060058|DOID:614|DOID:1287 T intron GWASdb_trait 3 105499373 rs7638504 T C rs7638504 6.18E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 3 105558837 rs2028597 G A rs2028597 7.20E-04 Multiple sclerosis HPOID:0000096|HPOID:0001967|HPOID:0009741|HPOID:0008664|HPOID:0001150|HPOID:0005450|HPOID:0005652|HPOID:0005686|HPOID:0005789|HPOID:0100923|HPOID:0100925|HPOID:0006623|HPOID:0100861|HPOID:0002694|HPOID:0004979|HPOID:0003881|HPOID:0003991|HPOID:0003854|HPOID:0003933|HPOID:0004030|HPOID:0100899|HPOID:0002634 DOID:2377 G intron GWASdb_trait 3 105560638 rs6767627 G A rs6767627 3.17E-04 Alzheimer's disease HPOID:0002511 DOID:10652 A intron GWASdb_trait 3 105567658 rs7641825 A T rs7641825 5.99E-05 Alzheimer's disease HPOID:0002511 DOID:10652 A intron GWASdb_trait 3 105568165 rs2197209 C A rs2197209 5.78E-04 Alzheimer's disease HPOID:0002511 DOID:10652 G intron GWASdb_trait 3 105568246 rs1867192 T C rs1867192 2.94E-04 Alzheimer's disease HPOID:0002511 DOID:10652 A intron GWASdb_trait 3 105573413 rs16851673 G A rs16851673 2.80E-04 Gallstones HPOID:0001081 DOID:11151 G intron GWASdb_trait 3 105586714 rs9657904 T C rs9657904 2.00E-10 Multiple sclerosis HPOID:0000096|HPOID:0001967|HPOID:0009741|HPOID:0008664|HPOID:0001150|HPOID:0005450|HPOID:0005652|HPOID:0005686|HPOID:0005789|HPOID:0100923|HPOID:0100925|HPOID:0006623|HPOID:0100861|HPOID:0002694|HPOID:0004979|HPOID:0003881|HPOID:0003991|HPOID:0003854|HPOID:0003933|HPOID:0004030|HPOID:0100899|HPOID:0002634 DOID:2377 C intron GWASdb_trait 3 105587845 rs7649466 C G rs7649466 3.13E-04 Alzheimer's disease HPOID:0002511 DOID:10652 C UTR-5 GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000114423.18 CBLB 604491