Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 75099 single nucleotide variant NM_152393.3(KLHL40):c.1582G>A (p.Glu528Lys) 397509419 MedGen:C3809209,OMIM:615348 3 42730521 42730521 G A 75099 single nucleotide variant NM_152393.3(KLHL40):c.1582G>A (p.Glu528Lys) 397509419 MedGen:C3809209,OMIM:615348 3 42689029 42689029 G A 75100 single nucleotide variant NM_152393.3(KLHL40):c.1405G>T (p.Gly469Cys) 367579275 MedGen:C3809209,OMIM:615348 3 42730193 42730193 G T 75100 single nucleotide variant NM_152393.3(KLHL40):c.1405G>T (p.Gly469Cys) 367579275 MedGen:C3809209,OMIM:615348 3 42688701 42688701 G T 75101 single nucleotide variant NM_152393.3(KLHL40):c.602G>T (p.Trp201Leu) 397509420 MedGen:C3809209,OMIM:615348 3 42727712 42727712 G T 75101 single nucleotide variant NM_152393.3(KLHL40):c.602G>T (p.Trp201Leu) 397509420 MedGen:C3809209,OMIM:615348 3 42686220 42686220 G T 75102 single nucleotide variant NM_152393.3(KLHL40):c.1612G>C (p.Ala538Pro) 397509421 MedGen:C3809209,OMIM:615348 3 42732355 42732355 G C 75102 single nucleotide variant NM_152393.3(KLHL40):c.1612G>C (p.Ala538Pro) 397509421 MedGen:C3809209,OMIM:615348 3 42690863 42690863 G C 75103 single nucleotide variant NM_152393.3(KLHL40):c.602G>A (p.Trp201Ter) 397509420 MedGen:C3809209,OMIM:615348 3 42727712 42727712 G A 75103 single nucleotide variant NM_152393.3(KLHL40):c.602G>A (p.Trp201Ter) 397509420 MedGen:C3809209,OMIM:615348 3 42686220 42686220 G A 229062 single nucleotide variant NM_152393.3(KLHL40):c.1034A>G (p.Asn345Ser) 6805421 MedGen:CN169374 3 42686652 42686652 A G 229062 single nucleotide variant NM_152393.3(KLHL40):c.1034A>G (p.Asn345Ser) 6805421 MedGen:CN169374 3 42728144 42728144 A G 229063 single nucleotide variant NM_152393.3(KLHL40):c.1849T>C (p.Cys617Arg) 123509 MedGen:CN169374 3 42733468 42733468 T C 229063 single nucleotide variant NM_152393.3(KLHL40):c.1849T>C (p.Cys617Arg) 123509 MedGen:CN169374 3 42691976 42691976 T C 229064 single nucleotide variant NM_152393.3(KLHL40):c.1850G>A (p.Cys617Tyr) 569851088 MedGen:CN169374 3 42733469 42733469 G A 229064 single nucleotide variant NM_152393.3(KLHL40):c.1850G>A (p.Cys617Tyr) 569851088 MedGen:CN169374 3 42691977 42691977 G A 251123 single nucleotide variant NM_152393.3(KLHL40):c.324A>G (p.Ala108=) 35033264 MedGen:CN169374 3 42727434 42727434 A G 251123 single nucleotide variant NM_152393.3(KLHL40):c.324A>G (p.Ala108=) 35033264 MedGen:CN169374 3 42685942 42685942 A G 251124 single nucleotide variant NM_152393.3(KLHL40):c.648G>T (p.Ala216=) 200613578 MedGen:CN169374 3 42727758 42727758 G T 251124 single nucleotide variant NM_152393.3(KLHL40):c.648G>T (p.Ala216=) 200613578 MedGen:CN169374 3 42686266 42686266 G T 251125 single nucleotide variant NM_152393.3(KLHL40):c.872A>C (p.Lys291Thr) 74843241 MedGen:CN169374 3 42727982 42727982 A C 251125 single nucleotide variant NM_152393.3(KLHL40):c.872A>C (p.Lys291Thr) 74843241 MedGen:CN169374 3 42686490 42686490 A C 251126 single nucleotide variant NM_152393.3(KLHL40):c.1053C>T (p.His351=) 61736693 MedGen:CN169374 3 42686671 42686671 C T 251126 single nucleotide variant NM_152393.3(KLHL40):c.1053C>T (p.His351=) 61736693 MedGen:CN169374 3 42728163 42728163 C T 251127 single nucleotide variant NM_152393.3(KLHL40):c.1104C>T (p.Phe368=) 147863385 MedGen:CN169374 3 42728214 42728214 C T 251127 single nucleotide variant NM_152393.3(KLHL40):c.1104C>T (p.Phe368=) 147863385 MedGen:CN169374 3 42686722 42686722 C T 251128 single nucleotide variant NM_152393.3(KLHL40):c.1540G>A (p.Val514Met) 146266900 MedGen:CN169374 3 42730479 42730479 G A 251128 single nucleotide variant NM_152393.3(KLHL40):c.1540G>A (p.Val514Met) 146266900 MedGen:CN169374 3 42688987 42688987 G A 251129 single nucleotide variant NM_152393.3(KLHL40):c.1738C>A (p.Leu580Ile) 149980411 MedGen:CN169374 3 42732481 42732481 C A 251129 single nucleotide variant NM_152393.3(KLHL40):c.1738C>A (p.Leu580Ile) 149980411 MedGen:CN169374 3 42690989 42690989 C A 251130 deletion NM_152393.3(KLHL40):c.1768_1770delGAG (p.Glu590del) 142843476 MedGen:CN169374 3 42733387 42733389 GAG - 251130 deletion NM_152393.3(KLHL40):c.1768_1770delGAG (p.Glu590del) 142843476 MedGen:CN169374 3 42691895 42691897 GAG - 264149 single nucleotide variant NM_152393.3(KLHL40):c.968T>G (p.Ile323Ser) 146161469 MedGen:CN169374 3 42728078 42728078 T G 264149 single nucleotide variant NM_152393.3(KLHL40):c.968T>G (p.Ile323Ser) 146161469 MedGen:CN169374 3 42686586 42686586 T G

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 42728144 rs6805421 A G rs6805421 2.94E-04 RISPERIDONE ANTIPSYCHOTIC AGENTS Schizophrenia(treatment response to risperidone) HPOID:0100753 DOID:5419 A missense GWASdb_drug 3 42728144 rs6805421 A G rs6805421 2.94E-04 Schizophrenia(treatment response to risperidone) HPOID:0100753 DOID:5419 A missense GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000157119.11 KLHL40 615340