Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 76950 deletion NC_000010.11:g.27981131_27986391del5261 -1 MedGen:C3809548,OMIM:615451 10 28270060 28275320 na na 76950 deletion NC_000010.11:g.27981131_27986391del5261 -1 MedGen:C3809548,OMIM:615451 10 27981131 27986391 na na 76951 single nucleotide variant NM_018076.4(ARMC4):c.2780T>G (p.Leu927Trp) 587777047 MedGen:C0022521,OMIM:244400,Orphanet:ORPHA98861,SNOMED CT:C0022521;MedGen:C3809548,OMIM:615451 10 28151382 28151382 A C 76951 single nucleotide variant NM_018076.4(ARMC4):c.2780T>G (p.Leu927Trp) 587777047 MedGen:C0022521,OMIM:244400,Orphanet:ORPHA98861,SNOMED CT:C0022521;MedGen:C3809548,OMIM:615451 10 27862453 27862453 A C 76952 deletion NM_018076.4(ARMC4):c.2712delC (p.Ile905Leufs) 587777048 MedGen:C3809548,OMIM:615451 10 28151450 28151450 G - 76952 deletion NM_018076.4(ARMC4):c.2712delC (p.Ile905Leufs) 587777048 MedGen:C3809548,OMIM:615451 10 27862521 27862521 G - 76953 single nucleotide variant NM_018076.4(ARMC4):c.2675C>A (p.Ser892Ter) 587777049 MedGen:C3809548,OMIM:615451 10 28151487 28151487 G T 76953 single nucleotide variant NM_018076.4(ARMC4):c.2675C>A (p.Ser892Ter) 587777049 MedGen:C3809548,OMIM:615451 10 27862558 27862558 G T 106835 single nucleotide variant NM_018076.4(ARMC4):c.1972G>T (p.Glu658Ter) 587777199 MedGen:C3809548,OMIM:615451 10 28229506 28229506 C A 106835 single nucleotide variant NM_018076.4(ARMC4):c.1972G>T (p.Glu658Ter) 587777199 MedGen:C3809548,OMIM:615451 10 27940577 27940577 C A 205561 single nucleotide variant NM_018076.4(ARMC4):c.1669G>T (p.Glu557Ter) 145742175 MedGen:C0022521,OMIM:244400,Orphanet:ORPHA98861,SNOMED CT:C0022521;MedGen:C3809548,OMIM:615451 10 28233225 28233225 C A 205561 single nucleotide variant NM_018076.4(ARMC4):c.1669G>T (p.Glu557Ter) 145742175 MedGen:C0022521,OMIM:244400,Orphanet:ORPHA98861,SNOMED CT:C0022521;MedGen:C3809548,OMIM:615451 10 27944296 27944296 C A 221943 single nucleotide variant NM_018076.4(ARMC4):c.2342G>T (p.Gly781Val) 145619075 MedGen:C3809548,OMIM:615451 10 28224092 28224092 C A 221943 single nucleotide variant NM_018076.4(ARMC4):c.2342G>T (p.Gly781Val) 145619075 MedGen:C3809548,OMIM:615451 10 27935163 27935163 C A 240768 single nucleotide variant NM_018076.4(ARMC4):c.2979C>T (p.Asp993=) 74555138 MedGen:C3809548,OMIM:615451 10 27860667 27860667 G A 240768 single nucleotide variant NM_018076.4(ARMC4):c.2979C>T (p.Asp993=) 74555138 MedGen:C3809548,OMIM:615451 10 28149596 28149596 G A 240769 single nucleotide variant NM_018076.4(ARMC4):c.2839T>C (p.Ser947Pro) 772552604 MedGen:C3809548,OMIM:615451 10 28149736 28149736 A G 240769 single nucleotide variant NM_018076.4(ARMC4):c.2839T>C (p.Ser947Pro) 772552604 MedGen:C3809548,OMIM:615451 10 27860807 27860807 A G 240770 single nucleotide variant NM_018076.4(ARMC4):c.2496-7A>G 201203284 MedGen:C3809548,OMIM:615451 10 27907784 27907784 T C 240770 single nucleotide variant NM_018076.4(ARMC4):c.2496-7A>G 201203284 MedGen:C3809548,OMIM:615451 10 28196713 28196713 T C 240771 single nucleotide variant NM_018076.4(ARMC4):c.2286G>A (p.Val762=) 780112130 MedGen:C3809548,OMIM:615451 10 28224148 28224148 C T 240771 single nucleotide variant NM_018076.4(ARMC4):c.2286G>A (p.Val762=) 780112130 MedGen:C3809548,OMIM:615451 10 27935219 27935219 C T 240772 single nucleotide variant NM_018076.4(ARMC4):c.2276A>T (p.Glu759Val) 878855047 MedGen:C3809548,OMIM:615451 10 28224158 28224158 T A 240772 single nucleotide variant NM_018076.4(ARMC4):c.2276A>T (p.Glu759Val) 878855047 MedGen:C3809548,OMIM:615451 10 27935229 27935229 T A 240773 single nucleotide variant NM_018076.4(ARMC4):c.1922T>C (p.Leu641Pro) 748101941 MedGen:C3809548,OMIM:615451 10 27940627 27940627 A G 240773 single nucleotide variant NM_018076.4(ARMC4):c.1922T>C (p.Leu641Pro) 748101941 MedGen:C3809548,OMIM:615451 10 28229556 28229556 A G 240774 single nucleotide variant NM_018076.4(ARMC4):c.1353T>C (p.Tyr451=) 149432727 MedGen:C3809548,OMIM:615451 10 28250530 28250530 A G 240774 single nucleotide variant NM_018076.4(ARMC4):c.1353T>C (p.Tyr451=) 149432727 MedGen:C3809548,OMIM:615451 10 27961601 27961601 A G 240775 single nucleotide variant NM_018076.4(ARMC4):c.1272C>T (p.Ser424=) 111982349 MedGen:C3809548,OMIM:615451 10 27961682 27961682 G A 240775 single nucleotide variant NM_018076.4(ARMC4):c.1272C>T (p.Ser424=) 111982349 MedGen:C3809548,OMIM:615451 10 28250611 28250611 G A 240776 single nucleotide variant NM_018076.4(ARMC4):c.1237C>G (p.Arg413Gly) 57067036 MedGen:C3809548,OMIM:615451 10 28257853 28257853 G C 240776 single nucleotide variant NM_018076.4(ARMC4):c.1237C>G (p.Arg413Gly) 57067036 MedGen:C3809548,OMIM:615451 10 27968924 27968924 G C 240777 single nucleotide variant NM_018076.4(ARMC4):c.1017C>T (p.Leu339=) 117723546 MedGen:C3809548,OMIM:615451 10 28260162 28260162 G A 240777 single nucleotide variant NM_018076.4(ARMC4):c.1017C>T (p.Leu339=) 117723546 MedGen:C3809548,OMIM:615451 10 27971233 27971233 G A 240778 single nucleotide variant NM_018076.4(ARMC4):c.995A>G (p.Lys332Arg) 148930400 MedGen:C3809548,OMIM:615451 10 27971255 27971255 T C 240778 single nucleotide variant NM_018076.4(ARMC4):c.995A>G (p.Lys332Arg) 148930400 MedGen:C3809548,OMIM:615451 10 28260184 28260184 T C 240779 single nucleotide variant NM_018076.4(ARMC4):c.883G>C (p.Val295Leu) 143215183 MedGen:C3809548,OMIM:615451 10 28270448 28270448 C G 240779 single nucleotide variant NM_018076.4(ARMC4):c.883G>C (p.Val295Leu) 143215183 MedGen:C3809548,OMIM:615451 10 27981519 27981519 C G 240780 single nucleotide variant NM_018076.4(ARMC4):c.717G>A (p.Pro239=) 150780082 MedGen:C3809548,OMIM:615451 10 27983945 27983945 C T 240780 single nucleotide variant NM_018076.4(ARMC4):c.717G>A (p.Pro239=) 150780082 MedGen:C3809548,OMIM:615451 10 28272874 28272874 C T 240781 single nucleotide variant NM_018076.4(ARMC4):c.205G>C (p.Glu69Gln) 61729351 MedGen:C3809548,OMIM:615451 10 27994938 27994938 C G 240781 single nucleotide variant NM_018076.4(ARMC4):c.205G>C (p.Glu69Gln) 61729351 MedGen:C3809548,OMIM:615451 10 28283867 28283867 C G 243961 single nucleotide variant NM_018076.4(ARMC4):c.2495+1G>A 879253744 MedGen:C3809548,OMIM:615451 10 27935009 27935009 C T 243961 single nucleotide variant NM_018076.4(ARMC4):c.2495+1G>A 879253744 MedGen:C3809548,OMIM:615451 10 28223938 28223938 C T 243962 single nucleotide variant NM_018076.4(ARMC4):c.2219G>A (p.Trp740Ter) 201213030 MedGen:C3809548,OMIM:615451 10 27936759 27936759 C T 243962 single nucleotide variant NM_018076.4(ARMC4):c.2219G>A (p.Trp740Ter) 201213030 MedGen:C3809548,OMIM:615451 10 28225688 28225688 C T 243963 single nucleotide variant NM_018076.4(ARMC4):c.2014G>T (p.Glu672Ter) 771920114 MedGen:C3809548,OMIM:615451 10 28228909 28228909 C A 243963 single nucleotide variant NM_018076.4(ARMC4):c.2014G>T (p.Glu672Ter) 771920114 MedGen:C3809548,OMIM:615451 10 27939980 27939980 C A 243964 single nucleotide variant NM_018076.4(ARMC4):c.1969C>T (p.Gln657Ter) 868755574 MedGen:C3809548,OMIM:615451 10 27940580 27940580 G A 243964 single nucleotide variant NM_018076.4(ARMC4):c.1969C>T (p.Gln657Ter) 868755574 MedGen:C3809548,OMIM:615451 10 28229509 28229509 G A 253760 single nucleotide variant NM_018076.4(ARMC4):c.2058T>C (p.Asn686=) 7893462 MedGen:CN169374 10 28228865 28228865 A G 253760 single nucleotide variant NM_018076.4(ARMC4):c.2058T>C (p.Asn686=) 7893462 MedGen:CN169374 10 27939936 27939936 A G 264428 deletion NM_018076.4(ARMC4):c.2406delT (p.Val803Terfs) 886041523 MedGen:CN221809 10 28224028 28224028 A - 264428 deletion NM_018076.4(ARMC4):c.2406delT (p.Val803Terfs) 886041523 MedGen:CN221809 10 27935099 27935099 A - 264559 deletion NM_018076.4(ARMC4):c.857_858delGA (p.Arg286Lysfs) 769346541 MedGen:CN221809 10 28270473 28270474 TC - 264559 deletion NM_018076.4(ARMC4):c.857_858delGA (p.Arg286Lysfs) 769346541 MedGen:CN221809 10 27981544 27981545 TC -

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 10 28156285 rs2152019 T C rs2152019 2.20E-04 ALDOSTERONE BIOLOGICAL MARKERS|NATRIURETIC PEPTIDE, BRAIN|RENIN Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 G intron GWASdb_drug 10 28172558 rs12356262 C T rs12356262 0.0009469 INFLIXIMAB|ADALIMUMAB|IMMUNOGLOBULIN G TUMOR NECROSIS FACTOR-ALPHA|ANTIRHEUMATIC AGENTS|ANTIBODIES, MONOCLONAL, HUMANIZED|TNFR-FC FUSION PROTEIN|ANTIBODIES, MONOCLONAL|RECEPTORS, TUMOR NECROSIS FACTOR Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months) HPOID:0001370 DOID:7148 C intron GWASdb_drug 10 28172558 rs12356262 C T rs12356262 9.47E-04 LEUCOVORIN|METHOTREXATE SLCO1B1 PROTEIN, HUMAN|ORGANIC ANION TRANSPORTERS Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 C intron GWASdb_drug 10 28183423 rs1334719 A C rs1334719 2.34E-04 CISPLATIN|ETOPOSIDE|CARBOPLATIN R-SNARE PROTEINS|PLATINUM|STXBP5 PROTEIN, HUMAN|NERVE TISSUE PROTEINS Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 C intron GWASdb_drug 10 28201966 rs7897553 C T rs7897553 6.38E-04 ALDOSTERONE BIOLOGICAL MARKERS|NATRIURETIC PEPTIDE, BRAIN|RENIN Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 T intron GWASdb_drug 10 28225897 rs2297646 G T rs2297646 2.34E-04 CISPLATIN|ETOPOSIDE|CARBOPLATIN R-SNARE PROTEINS|PLATINUM|STXBP5 PROTEIN, HUMAN|NERVE TISSUE PROTEINS Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 A intron GWASdb_drug 10 28231735 rs1970631 G A rs1970631 1.91E-04 CISPLATIN|ETOPOSIDE|CARBOPLATIN R-SNARE PROTEINS|PLATINUM|STXBP5 PROTEIN, HUMAN|NERVE TISSUE PROTEINS Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 C intron GWASdb_drug 10 28233469 rs3802517 T A rs3802517 5.57E-06 CISPLATIN|ETOPOSIDE|CARBOPLATIN R-SNARE PROTEINS|PLATINUM|STXBP5 PROTEIN, HUMAN|NERVE TISSUE PROTEINS Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 T intron GWASdb_drug 10 28245420 rs11596400 A G rs11596400 1.97E-04 CISPLATIN|ETOPOSIDE|CARBOPLATIN R-SNARE PROTEINS|PLATINUM|STXBP5 PROTEIN, HUMAN|NERVE TISSUE PROTEINS Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 A intron GWASdb_drug 10 28260543 rs12218330 A G rs12218330 4.70E-05 TOPIRAMATE|FRUCTOSE ANTICONVULSANTS Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 A intron GWASdb_drug 10 28120745 rs12355413 T C rs12355413 4.39E-05 Serum metabolites HPOID:0011111 NA C intron GWASdb_trait 10 28123071 rs6481484 A C rs6481484 5.90E-05 Serum metabolites HPOID:0011111 NA A intron GWASdb_trait 10 28133687 rs915175 C T rs915175 5.09E-04 Nicotine smoking HPOID:0000707 DOID:0050742 T intron GWASdb_trait 10 28142838 rs1889522 G A rs1889522 5.47E-05 Serum metabolites HPOID:0011111 NA T intron GWASdb_trait 10 28150935 rs11006747 A C rs11006747 8.00E-06 Obesity-related traits HPOID:0001513 DOID:9970 C intron GWASdb_trait 10 28156285 rs2152019 T C rs2152019 2.20E-04 Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 G intron GWASdb_trait 10 28159133 rs16928376 C G rs16928376 8.63E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 10 28172558 rs12356262 C T rs12356262 9.47E-04 Methotrexate clearance (acute lymphoblastic leukemia) HPOID:0006721 DOID:9952|DOID:12603 C intron GWASdb_trait 10 28183423 rs1334719 A C rs1334719 2.34E-04 Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 C intron GWASdb_trait 10 28201966 rs7897553 C T rs7897553 6.38E-04 Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 T intron GWASdb_trait 10 28225897 rs2297646 G T rs2297646 2.34E-04 Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 A intron GWASdb_trait 10 28231735 rs1970631 G A rs1970631 1.91E-04 Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 C intron GWASdb_trait 10 28233469 rs3802517 T A rs3802517 5.57E-06 Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 T intron GWASdb_trait 10 28245420 rs11596400 A G rs11596400 1.97E-04 Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 A intron GWASdb_trait 10 28260151 rs4405206 A G rs4405206 1.53E-05 Soluble levels of adhesion molecules HPOID:0002597 DOID:2388 A missense GWASdb_trait 10 28260543 rs12218330 A G rs12218330 1.00E-04 Iris characteristics HPOID:0000525 DOID:240 A intron GWASdb_trait 10 28260543 rs12218330 A G rs12218330 4.70E-05 Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 A intron GWASdb_trait 10 28271283 rs12415087 A G rs12415087 0.000348313 Hypertension (early onset hypertension) HPOID:0000822 DOID:10763 A intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000169126.15 ARMC4 615408