Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 27612 single nucleotide variant NM_198291.2(SRC):c.1591C>T (p.Gln531Ter) 121913314 MedGen:C4016406 20 37403359 37403359 C T 27612 single nucleotide variant NM_198291.2(SRC):c.1591C>T (p.Gln531Ter) 121913314 MedGen:C4016406 20 36031762 36031762 C T 104416 single nucleotide variant NM_198291.2(SRC):c.12C>T (p.Asn4=) 367543237 MedGen:CN221809 20 36012568 36012568 C T 104416 single nucleotide variant NM_198291.2(SRC):c.12C>T (p.Asn4=) 367543237 MedGen:CN221809 20 37384165 37384165 C T 104417 single nucleotide variant NM_198291.2(SRC):c.61G>A (p.Ala21Thr) 367543238 MedGen:CN221809 20 36012617 36012617 G A 104417 single nucleotide variant NM_198291.2(SRC):c.61G>A (p.Ala21Thr) 367543238 MedGen:CN221809 20 37384214 37384214 G A 104418 single nucleotide variant NM_198291.2(SRC):c.85G>T (p.Gly29Trp) 367543239 MedGen:CN221809 20 36012641 36012641 G T 104418 single nucleotide variant NM_198291.2(SRC):c.85G>T (p.Gly29Trp) 367543239 MedGen:CN221809 20 37384238 37384238 G T 104419 single nucleotide variant NM_198291.2(SRC):c.642C>T (p.Gly214=) 367543240 MedGen:CN221809 20 36024653 36024653 C T 104419 single nucleotide variant NM_198291.2(SRC):c.642C>T (p.Gly214=) 367543240 MedGen:CN221809 20 37396250 37396250 C T 104420 single nucleotide variant NM_198291.2(SRC):c.727C>T (p.Arg243Cys) 367543241 MedGen:CN221809 20 36026125 36026125 C T 104420 single nucleotide variant NM_198291.2(SRC):c.727C>T (p.Arg243Cys) 367543241 MedGen:CN221809 20 37397722 37397722 C T 104421 single nucleotide variant NM_198291.2(SRC):c.846C>T (p.Gly282=) 367543242 MedGen:CN221809 20 36026244 36026244 C T 104421 single nucleotide variant NM_198291.2(SRC):c.846C>T (p.Gly282=) 367543242 MedGen:CN221809 20 37397841 37397841 C T 104422 single nucleotide variant NM_198291.2(SRC):c.1200C>T (p.Asn400=) 367543243 MedGen:CN221809 20 36030921 36030921 C T 104422 single nucleotide variant NM_198291.2(SRC):c.1200C>T (p.Asn400=) 367543243 MedGen:CN221809 20 37402518 37402518 C T 104423 single nucleotide variant NM_198291.2(SRC):c.1239C>T (p.Leu413=) 367543244 MedGen:CN221809 20 36030960 36030960 C T 104423 single nucleotide variant NM_198291.2(SRC):c.1239C>T (p.Leu413=) 367543244 MedGen:CN221809 20 37402557 37402557 C T 104424 single nucleotide variant NM_198291.2(SRC):c.1263G>A (p.Ala421=) 367543245 MedGen:CN221809 20 36030984 36030984 G A 104424 single nucleotide variant NM_198291.2(SRC):c.1263G>A (p.Ala421=) 367543245 MedGen:CN221809 20 37402581 37402581 G A 104425 single nucleotide variant NM_198291.2(SRC):c.1323C>A (p.Arg441=) 367543246 MedGen:CN221809 20 36031204 36031204 C A 104425 single nucleotide variant NM_198291.2(SRC):c.1323C>A (p.Arg441=) 367543246 MedGen:CN221809 20 37402801 37402801 C A 104426 single nucleotide variant NM_198291.2(SRC):c.1387C>T (p.Arg463Trp) 367543247 MedGen:CN221809 20 36031268 36031268 C T 104426 single nucleotide variant NM_198291.2(SRC):c.1387C>T (p.Arg463Trp) 367543247 MedGen:CN221809 20 37402865 37402865 C T 104427 single nucleotide variant NM_198291.2(SRC):c.1474G>A (p.Glu492Lys) 367543248 MedGen:CN221809 20 36031645 36031645 G A 104427 single nucleotide variant NM_198291.2(SRC):c.1474G>A (p.Glu492Lys) 367543248 MedGen:CN221809 20 37403242 37403242 G A 106711 single nucleotide variant NM_005417.4(SRC):c.1200C>G (p.Asn400Lys) 367543243 MedGen:CN221809 20 36030921 36030921 C G 106711 single nucleotide variant NM_005417.4(SRC):c.1200C>G (p.Asn400Lys) 367543243 MedGen:CN221809 20 37402518 37402518 C G 227504 single nucleotide variant NM_198291.2(SRC):c.1579G>A (p.Glu527Lys) 879255268 MedGen:CN236410,OMIM:616937 20 36031750 36031750 G A 227504 single nucleotide variant NM_198291.2(SRC):c.1579G>A (p.Glu527Lys) 879255268 MedGen:CN236410,OMIM:616937 20 37403347 37403347 G A

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 20 35982889 rs747182 T C rs747182 2.85E-04 Lymphocyte counts HPOID:0004332|HPOID:0002665 DOID:2841|DOID:1240|DOID:0060058|DOID:614|DOID:1287 T intron GWASdb_trait 20 36009657 rs6018199 T G rs6018199 5.11E-05 HIV-1 progression to AIDS and death HPOID:0002721 DOID:526 G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000197122.11 SRC 190090