Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 39149 deletion NM_013416.3(NCF4):c.143_152delAAGGAGGATC (p.Lys48Thrfs) 876657377 MedGen:C3151409,OMIM:613960 22 37260986 37260995 AAGGAGGATC - 39149 deletion NM_013416.3(NCF4):c.143_152delAAGGAGGATC (p.Lys48Thrfs) 876657377 MedGen:C3151409,OMIM:613960 22 36864944 36864953 AAGGAGGATC - 39150 single nucleotide variant NM_013416.3(NCF4):c.314G>A (p.Arg105Gln) 387906808 MedGen:C0018203,Orphanet:ORPHA379;MedGen:C3151409,OMIM:613960 22 37263476 37263476 G A 39150 single nucleotide variant NM_013416.3(NCF4):c.314G>A (p.Arg105Gln) 387906808 MedGen:C0018203,Orphanet:ORPHA379;MedGen:C3151409,OMIM:613960 22 36867434 36867434 G A 195362 single nucleotide variant NM_013416.3(NCF4):c.528+16A>G 2072708 MedGen:CN169374 22 37267767 37267767 A G 195362 single nucleotide variant NM_013416.3(NCF4):c.528+16A>G 2072708 MedGen:CN169374 22 36871725 36871725 A G 224721 duplication NM_013416.3(NCF4):c.143_152dupAAGGAGGATC (p.Lys52Argfs) 869025585 MedGen:C0018203,Orphanet:ORPHA379 22 37260986 37260995 AAGGAGGATC AAGGAGGATCAAGGAGGATC 224721 duplication NM_013416.3(NCF4):c.143_152dupAAGGAGGATC (p.Lys52Argfs) 869025585 MedGen:C0018203,Orphanet:ORPHA379 22 36864944 36864953 AAGGAGGATC AAGGAGGATCAAGGAGGATC 257662 single nucleotide variant NM_013416.3(NCF4):c.69G>A (p.Ser23=) 10854695 MedGen:C0018203,Orphanet:ORPHA379;MedGen:CN169374 22 37260123 37260123 G A 257662 single nucleotide variant NM_013416.3(NCF4):c.69G>A (p.Ser23=) 10854695 MedGen:C0018203,Orphanet:ORPHA379;MedGen:CN169374 22 36864081 36864081 G A 257663 single nucleotide variant NM_013416.3(NCF4):c.528+18G>C 6000455 MedGen:CN169374 22 37267769 37267769 G C 257663 single nucleotide variant NM_013416.3(NCF4):c.528+18G>C 6000455 MedGen:CN169374 22 36871727 36871727 G C 257664 single nucleotide variant NM_013416.3(NCF4):c.628-14C>A 56071149 MedGen:C0018203,Orphanet:ORPHA379;MedGen:CN169374 22 37271681 37271681 C A 257664 single nucleotide variant NM_013416.3(NCF4):c.628-14C>A 56071149 MedGen:C0018203,Orphanet:ORPHA379;MedGen:CN169374 22 36875639 36875639 C A 257665 single nucleotide variant NM_013416.3(NCF4):c.735C>T (p.Tyr245=) 2072712 MedGen:C0018203,Orphanet:ORPHA379;MedGen:CN169374 22 36875760 36875760 C T 257665 single nucleotide variant NM_013416.3(NCF4):c.735C>T (p.Tyr245=) 2072712 MedGen:C0018203,Orphanet:ORPHA379;MedGen:CN169374 22 37271802 37271802 C T 257666 single nucleotide variant NM_013416.3(NCF4):c.815T>C (p.Leu272Pro) 2075939 MedGen:C0018203,Orphanet:ORPHA379;MedGen:CN169374 22 36875840 36875840 T C 257666 single nucleotide variant NM_013416.3(NCF4):c.815T>C (p.Leu272Pro) 2075939 MedGen:C0018203,Orphanet:ORPHA379;MedGen:CN169374 22 37271882 37271882 T C 257667 single nucleotide variant NM_013416.3(NCF4):c.*95G>A 11552115 MedGen:C0018203,Orphanet:ORPHA379;MedGen:CN169374 22 36877700 36877700 G A 257667 single nucleotide variant NM_013416.3(NCF4):c.*95G>A 11552115 MedGen:C0018203,Orphanet:ORPHA379;MedGen:CN169374 22 37273742 37273742 G A 271893 single nucleotide variant NM_013416.3(NCF4):c.254C>A (p.Thr85Asn) 112306225 MedGen:CN169374 22 37261097 37261097 C A 271893 single nucleotide variant NM_013416.3(NCF4):c.254C>A (p.Thr85Asn) 112306225 MedGen:CN169374 22 36865055 36865055 C A 273139 single nucleotide variant NM_013416.3(NCF4):c.271+7G>A 201881905 MedGen:CN169374 22 37261121 37261121 G A 273139 single nucleotide variant NM_013416.3(NCF4):c.271+7G>A 201881905 MedGen:CN169374 22 36865079 36865079 G A 338069 single nucleotide variant NM_013416.3(NCF4):c.-95C>T 148141762 MedGen:C0018203,Orphanet:ORPHA379 22 37257119 37257119 C T 338069 single nucleotide variant NM_013416.3(NCF4):c.-95C>T 148141762 MedGen:C0018203,Orphanet:ORPHA379 22 36861077 36861077 C T 338070 single nucleotide variant NM_013416.3(NCF4):c.240T>C (p.Ser80=) 35431748 MedGen:C0018203,Orphanet:ORPHA379 22 37261083 37261083 T C 338070 single nucleotide variant NM_013416.3(NCF4):c.240T>C (p.Ser80=) 35431748 MedGen:C0018203,Orphanet:ORPHA379 22 36865041 36865041 T C 338076 single nucleotide variant NM_013416.3(NCF4):c.270A>T (p.Pro90=) 370754874 MedGen:C0018203,Orphanet:ORPHA379 22 37261113 37261113 A T 338076 single nucleotide variant NM_013416.3(NCF4):c.270A>T (p.Pro90=) 370754874 MedGen:C0018203,Orphanet:ORPHA379 22 36865071 36865071 A T 338078 single nucleotide variant NM_013416.3(NCF4):c.655T>C (p.Phe219Leu) 761212596 MedGen:C0018203,Orphanet:ORPHA379 22 37271722 37271722 T C 338078 single nucleotide variant NM_013416.3(NCF4):c.655T>C (p.Phe219Leu) 761212596 MedGen:C0018203,Orphanet:ORPHA379 22 36875680 36875680 T C 338082 single nucleotide variant NM_013416.3(NCF4):c.*24C>T 200598824 MedGen:C0018203,Orphanet:ORPHA379 22 36877629 36877629 C T 338082 single nucleotide variant NM_013416.3(NCF4):c.*24C>T 200598824 MedGen:C0018203,Orphanet:ORPHA379 22 37273671 37273671 C T 338083 single nucleotide variant NM_013416.3(NCF4):c.*138C>A 199686562 MedGen:C0018203,Orphanet:ORPHA379 22 36877743 36877743 C A 338083 single nucleotide variant NM_013416.3(NCF4):c.*138C>A 199686562 MedGen:C0018203,Orphanet:ORPHA379 22 37273785 37273785 C A 347708 single nucleotide variant NM_013416.3(NCF4):c.-114C>T 886057487 MedGen:C0018203,Orphanet:ORPHA379 22 37257100 37257100 C T 347708 single nucleotide variant NM_013416.3(NCF4):c.-114C>T 886057487 MedGen:C0018203,Orphanet:ORPHA379 22 36861058 36861058 C T 347710 single nucleotide variant NM_013416.3(NCF4):c.-37G>A 34567417 MedGen:C0018203,Orphanet:ORPHA379 22 37257177 37257177 G A 347710 single nucleotide variant NM_013416.3(NCF4):c.-37G>A 34567417 MedGen:C0018203,Orphanet:ORPHA379 22 36861135 36861135 G A 347715 single nucleotide variant NM_013416.3(NCF4):c.33-6G>A 200865261 MedGen:C0018203,Orphanet:ORPHA379 22 37260081 37260081 G A 347715 single nucleotide variant NM_013416.3(NCF4):c.33-6G>A 200865261 MedGen:C0018203,Orphanet:ORPHA379 22 36864039 36864039 G A 347716 single nucleotide variant NM_013416.3(NCF4):c.63C>T (p.Ala21=) 34373276 MedGen:C0018203,Orphanet:ORPHA379 22 37260117 37260117 C T 347716 single nucleotide variant NM_013416.3(NCF4):c.63C>T (p.Ala21=) 34373276 MedGen:C0018203,Orphanet:ORPHA379 22 36864075 36864075 C T 347719 single nucleotide variant NM_013416.3(NCF4):c.442C>T (p.Arg148Cys) 770577417 MedGen:C0018203,Orphanet:ORPHA379 22 37266556 37266556 C T 347719 single nucleotide variant NM_013416.3(NCF4):c.442C>T (p.Arg148Cys) 770577417 MedGen:C0018203,Orphanet:ORPHA379 22 36870514 36870514 C T 351562 single nucleotide variant NM_013416.3(NCF4):c.*389A>T 886057489 MedGen:C0018203,Orphanet:ORPHA379 22 36877994 36877994 A T 351557 single nucleotide variant NM_013416.3(NCF4):c.271+6C>T 200052796 MedGen:C0018203,Orphanet:ORPHA379 22 37261120 37261120 C T 351557 single nucleotide variant NM_013416.3(NCF4):c.271+6C>T 200052796 MedGen:C0018203,Orphanet:ORPHA379 22 36865078 36865078 C T 351558 single nucleotide variant NM_013416.3(NCF4):c.*23G>T 145005349 MedGen:C0018203,Orphanet:ORPHA379 22 36877628 36877628 G T 351558 single nucleotide variant NM_013416.3(NCF4):c.*23G>T 145005349 MedGen:C0018203,Orphanet:ORPHA379 22 37273670 37273670 G T 351561 single nucleotide variant NM_013416.3(NCF4):c.*158C>T 1858 MedGen:C0018203,Orphanet:ORPHA379 22 36877763 36877763 C T 351561 single nucleotide variant NM_013416.3(NCF4):c.*158C>T 1858 MedGen:C0018203,Orphanet:ORPHA379 22 37273805 37273805 C T 351562 single nucleotide variant NM_013416.3(NCF4):c.*389A>T 886057489 MedGen:C0018203,Orphanet:ORPHA379 22 37274036 37274036 A T 351564 single nucleotide variant NM_013416.3(NCF4):c.*390A>C 529161346 MedGen:C0018203,Orphanet:ORPHA379 22 36877995 36877995 A C 351564 single nucleotide variant NM_013416.3(NCF4):c.*390A>C 529161346 MedGen:C0018203,Orphanet:ORPHA379 22 37274037 37274037 A C 352519 single nucleotide variant NM_013416.3(NCF4):c.28G>A (p.Glu10Lys) 756372095 MedGen:C0018203,Orphanet:ORPHA379 22 37257241 37257241 G A 352519 single nucleotide variant NM_013416.3(NCF4):c.28G>A (p.Glu10Lys) 756372095 MedGen:C0018203,Orphanet:ORPHA379 22 36861199 36861199 G A 352520 single nucleotide variant NM_013416.3(NCF4):c.180C>T (p.Arg60=) 762003847 MedGen:C0018203,Orphanet:ORPHA379 22 37261023 37261023 C T 352520 single nucleotide variant NM_013416.3(NCF4):c.180C>T (p.Arg60=) 762003847 MedGen:C0018203,Orphanet:ORPHA379 22 36864981 36864981 C T 352521 single nucleotide variant NM_013416.3(NCF4):c.478G>A (p.Val160Met) 150103256 MedGen:C0018203,Orphanet:ORPHA379 22 37267701 37267701 G A 352521 single nucleotide variant NM_013416.3(NCF4):c.478G>A (p.Val160Met) 150103256 MedGen:C0018203,Orphanet:ORPHA379 22 36871659 36871659 G A 352522 single nucleotide variant NM_013416.3(NCF4):c.647C>T (p.Thr216Met) 146911421 MedGen:C0018203,Orphanet:ORPHA379 22 37271714 37271714 C T 352522 single nucleotide variant NM_013416.3(NCF4):c.647C>T (p.Thr216Met) 146911421 MedGen:C0018203,Orphanet:ORPHA379 22 36875672 36875672 C T 352523 single nucleotide variant NM_013416.3(NCF4):c.733T>C (p.Tyr245His) 886057488 MedGen:C0018203,Orphanet:ORPHA379 22 37271800 37271800 T C 352523 single nucleotide variant NM_013416.3(NCF4):c.733T>C (p.Tyr245His) 886057488 MedGen:C0018203,Orphanet:ORPHA379 22 36875758 36875758 T C 352524 single nucleotide variant NM_013416.3(NCF4):c.*121G>A 141160114 MedGen:C0018203,Orphanet:ORPHA379 22 36877726 36877726 G A 352524 single nucleotide variant NM_013416.3(NCF4):c.*121G>A 141160114 MedGen:C0018203,Orphanet:ORPHA379 22 37273768 37273768 G A 352525 single nucleotide variant NM_013416.3(NCF4):c.*132G>T 199618052 MedGen:C0018203,Orphanet:ORPHA379 22 36877737 36877737 G T 352525 single nucleotide variant NM_013416.3(NCF4):c.*132G>T 199618052 MedGen:C0018203,Orphanet:ORPHA379 22 37273779 37273779 G T 352526 single nucleotide variant NM_013416.3(NCF4):c.*209G>A 28669668 MedGen:C0018203,Orphanet:ORPHA379 22 36877814 36877814 G A 352526 single nucleotide variant NM_013416.3(NCF4):c.*209G>A 28669668 MedGen:C0018203,Orphanet:ORPHA379 22 37273856 37273856 G A 352527 single nucleotide variant NM_013416.3(NCF4):c.*241T>C 755408986 MedGen:C0018203,Orphanet:ORPHA379 22 36877846 36877846 T C 352527 single nucleotide variant NM_013416.3(NCF4):c.*241T>C 755408986 MedGen:C0018203,Orphanet:ORPHA379 22 37273888 37273888 T 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 22 37268501 rs2072710 A G rs2072710 5.75E-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 22 37268555 rs2072711 A G rs2072711 5.75E-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 22 37258503 rs4821544 T C rs4821544 1.75E-05 Crohn's disease HPOID:0100280 DOID:8778 C intron GWASdb_trait 22 37258503 rs4821544 T C rs4821544 6.00E-06 Atopic dermatitis HPOID:0001047 DOID:3310 C intron GWASdb_trait 22 37263706 rs760519 C T rs760519 5.90E-04 Smoking initiation HPOID:0000707 DOID:0050742 T intron GWASdb_trait 22 37268501 rs2072710 A G rs2072710 5.75E-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 22 37268555 rs2072711 A G rs2072711 5.75E-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 22 37268555 rs2072711 A G rs2072711 6.30E-05 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

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000100365.14 NCF4 601488