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Genes:
AAMDC, ABCC8, ABTB2, ACAD8, ACCS, ACCSL, ACER3, ACP2, ACTN3, ADAMTS15, ADAMTS8, ADRBK1, AGBL2, AHNAK, AIP, AKIP1, ALDH3B1, ALDH3B2, ALG9, ALKBH3, ALKBH8, ALX4, AMICA1, AMPD3, ANGPTL5, ANKK1, ANKRD13D, ANKRD49, ANO1, ANO3, ANO5, ANO9, AP000679.2, AP000867.1, AP000889.3, AP000974.1, AP001024.1, AP003062.1, AP003068.23, AP2A2, AP5B1, APIP, APLNR, APOA4, ARAP1, ARCN1, ARFGAP2, ARHGAP1, ARHGAP32, ARHGEF12, ARHGEF17, ARNTL, ART1, ART5, ASCL2, ASCL3, ATG16L2, ATG2A, ATHL1, ATM, B3GNT1, B3GNT6, B4GALNT4, BACE1, BBOX1, BCL9L, BCO2, BDNF, BEST1, BRMS1, BSCL2, BTG4, BUD13, C11orf16, C11orf21, C11orf24, C11orf35, C11orf40, C11orf42, C11orf48, C11orf49, C11orf52, C11orf53, C11orf68, C11orf72, C11orf80, C11orf82, C11orf84, C11orf89, C11orf96, C2CD3, CABP2, CADM1, CALCA, CAPN1, CAPN5, CARD16, CARNS1, CARS, CASP1, CASP12, CASP4, CASP5, CATSPER1, CCDC153, CCDC179, CCDC67, CCDC73, CCDC81, CCDC82, CCDC83, CCDC86, CCDC87, CCDC90B, CCKBR, CCND1, CD151, CD3E, CD44, CD5, CD6, CD82, CDC42BPG, CDCA5, CDHR5, CDON, CEP164, CFL1, CHEK1, CHID1, CHRDL2, CHRM4, CHRNA10, CHST1, CLCF1, CNTN5, COLCA2, CPSF7, CPT1A, CREB3L1, CREBZF, CRTAM, CSNK2A3, CST6, CTNND1, CTR9, CTSC, CTSD, CTSF, CTSW, CTTN, CWC15, CWF19L2, CYB5R2, CYP2R1, DAK, DCDC1, DCHS1, DCPS, DDB1, DDB2, DDX25, DEFB108B, DENND5A, DGKZ, DHCR7, DIXDC1, DKK3, DLAT, DNAJB13, DNHD1, DPP3, DRD2, DSCAML1, DYNC2H1, EFCAB4A, EFEMP2, EHBP1L1, EHD1, EI24, EIF4G2, ELF5, EML3, ENDOD1, EPS8L2, ESRRA, EXPH5, FADS2, FAM111B, FAM160A2, FAM168A, FAM180B, FAM86C1, FAR1, FAT3, FAU, FCHSD2, FDXACB1, FERMT3, FKBP2, FLRT1, FNBP4, FOSL1, FOXR1, FRMD8, FSHB, GAB2, GAL3ST3, GDPD4, GDPD5, GLB1L2, GLB1L3, GLYAT, GRIA4, GRIK4, GRM5, GSTP1, GYLTL1B, HBG1, HEPACAM, HEPHL1, HEPN1, HINFP, HMBS, HPS5, HPX, HRAS, HRASLS5, HSPB2, HTATIP2, HTR3B, HYOU1, IFITM1, IFITM10, IFITM3, IFITM5, IFT46, IGHMBP2, IGSF22, IGSF9B, IL10RA, IL18, ILK, INCENP, INS, INS-IGF2, INSC, INTS4, IPO7, IRF7, KCNA4, KCNJ11, KCNJ5, KCNK4, KCTD14, KDM2A, KDM4E, KIAA1377, KIAA1731, KIF18A, KIRREL3, KLC2, KLHL35, KRTAP5-1, KRTAP5-10, KRTAP5-4, KRTAP5-5, KRTAP5-8, KRTAP5-9, LDHA, LDHAL6A, LDHC, LGR4, LIPT2, LMO1, LMO2, LPXN, LRFN4, LRP4, LRP5, LRRC32, LRRC4C, LRRC56, LSP1, LUZP2, MACROD1, MADD, MAML2, MAP6, ME3, MED17, MEN1, METTL12, MFRP, MICAL2, MICALCL, MMP1, MMP10, MMP20, MMP27, MMP3, MMP8, MOB2, MOGAT2, MPEG1, MPZL3, MRGPRD, MRGPRE, MRGPRF, MRGPRX1, MRGPRX3, MRGPRX4, MRPL11, MRPL23, MRPL49, MRVI1, MS4A10, MS4A13, MS4A14, MS4A15, MS4A3, MS4A4A, MS4A5, MS4A6A, MS4A6E, MS4A7, MTCH2, MTL5, MTNR1B, MUC15, MUC2, MUC5AC, MUC5B, MUC6, MUS81, MYBPC3, MYEOV, MYO7A, MYRF, NAA40, NAALAD2, NADSYN1, NARS2, NAT10, NAV2, NCAM1, NDUFC2, NDUFS3, NELL1, NEU3, NFRKB, NLRP14, NLRP6, NLRX1, NOX4, NPAT, NRXN2, NTM, NUCB2, NUDT22, NUDT8, NUP160, NUP98, NXF1, NXPE2, OAF, ODF3, OLFML1, OR10A2, OR10A6, OR10Q1, OR10V1, OR1S1, OR2AG1, OR2AG2, OR2D2, OR2D3, OR4A15, OR4A16, OR4A47, OR4B1, OR4C12, OR4C15, OR4C16, OR4C3, OR4C46, OR4C5, OR4D11, OR4D6, OR4X1, OR51A2, OR51A4, OR51A7, OR51B2, OR51B4, OR51B5, OR51B6, OR51E2, OR51F1, OR51F2, OR51G1, OR51H1P, OR51I1, OR51I2, OR51J1, OR51L1, OR51M1, OR51S1, OR51V1, OR52A1, OR52B1P, OR52B4, OR52B6, OR52D1, OR52E2, OR52E4, OR52E8, OR52H1, OR52I1, OR52J3, OR52L1, OR52N1, OR52N2, OR52N4, OR52N5, OR52R1, OR52W1, OR56A1, OR56B1, OR5A1, OR5A2, OR5AK2, OR5AN1, OR5AR1, OR5AS1, OR5B12, OR5B2, OR5B3, OR5D13, OR5D14, OR5D16, OR5D18, OR5I1, OR5M1, OR5M10, OR5M11, OR5P3, OR5R1, OR5T1, OR5T2, OR5W2, OR6A2, OR6M1, OR6Q1, OR6X1, OR8A1, OR8B2, OR8B3, OR8B4, OR8G1, OR8H1, OR8H2, OR8J1, OR8K1, OR8K3, OR8U1, OR9G1, OR9G4, OR9Q2, OSBPL5, OTOG, OVCH2, P2RX3, P2RY2, PAAF1, PACS1, PAFAH1B2, PANX1, PARVA, PATE1, PCF11, PCNXL3, PCSK7, PDDC1, PDE2A, PDE3B, PDGFD, PDHX, PDZD3, PEX16, PGR, PHLDB1, PHRF1, PICALM, PIDD, PIH1D2, PIK3C2A, PITPNM1, PIWIL4, PKP3, PLCB3, PLEKHA7, PLET1, PNPLA2, POLD3, POLR2L, POU2F3, PPFIA1, PPFIBP2, PPP1R32, PRCP, PRDM10, PRDM11, PRDX5, PRG2, PRG3, PRKCDBP, PRMT3, PRPF19, PRR5L, PRRG4, PSMD13, PTGDR2, PTH, PTPN5, PTPRJ, PUS3, PVRL1, PYGM, QSER1, RAB38, RAB3IL1, RAD9A, RAG1, RAPSN, RARRES3, RASSF7, RBMXL2, RCN1, RCOR2, RELA, RELT, RHOD, RIC3, RIC8A, RIN1, RNF141, RNF169, RNF26, RNH1, ROBO3, ROM1, RP11-113D6.6, RP11-794P6.2, RP11-849H4.2, RPUSD4, RRM1, RRP8, RSF1, RTN3, SAA1, SAA2, SAA4, SAC3D1, SART1, SCGB1C1, SCGB1D2, SCUBE2, SDHAF2, SERGEF, SERPINH1, SF3B2, SHANK2, SIGIRR, SIK2, SIK3, SIPA1, SIRT3, SLC15A3, SLC1A2, SLC22A10, SLC22A12, SLC22A18, SLC22A18AS, SLC22A24, SLC22A25, SLC22A8, SLC22A9, SLC25A45, SLC37A4, SLC39A13, SLC3A2, SLC5A12, SLC6A5, SLCO2B1, SMCO4, SMPD1, SMTNL1, SNX15, SNX19, SORL1, SPA17, SPATA19, SPCS2, SPI1, SPTBN2, SRSF8, ST14, ST3GAL4, ST5, STIM1, STK33, STT3A, SUV420H1, SWAP70, SYT8, SYT9, SYTL2, TAF10, TAF1D, TBC1D10C, TBCEL, TBX10, TCIRG1, TCN1, TCP11L1, TECTA, TENM4, TEX12, TH, TIRAP, TM7SF2, TMEM109, TMEM132A, TMEM135, TMEM216, TMEM225, TMEM25, TMEM80, TMPRSS13, TMPRSS4, TMPRSS5, TNKS1BP1, TNNI2, TP53I11, TPCN2, TREH, TRIM22, TRIM29, TRIM49B, TRIM49C, TRIM5, TRIM51, TRIM6, TRIM6-TRIM34, TRIM64B, TRIM64C, TRIM66, TRPM5, TSG101, TSGA10IP, TSKU, TSPAN18, TSPAN32, TSPAN4, TSSC4, TTC12, TTC17, TTC9C, TUB, TYR, UBASH3B, UBE2L6, UBQLN3, UBQLNL, UCP2, UCP3, UEVLD, UNC93B1, USH1C, USP2, USP28, USP35, USP47, VEGFB, VPS11, VPS51, WT1, ZBTB3, ZC3H12C, ZDHHC13, ZFP91, ZNF143, ZNF202, ZNF214, ZNF215, ZNHIT2, ZP1,

+ Genes associated with diseases 138

Genes at Omim

ABCC8, ACAD8, ACER3, ACP2, ACTN3, AIP, ALG9, ALX4, AMPD3, ANO3, ANO5, ARCN1, ATM, BEST1, BSCL2, C2CD3, CABP2, CAPN1, CAPN5, CASP12, CATSPER1, CCND1, CD151, CD3E, CD44, CDON, CEP164, CLCF1, CPT1A, CREB3L1, CTNND1, CTSC, CTSD, CTSF, CYP2R1, DCHS1, DCPS, DDB2, DENND5A, DHCR7, DLAT, DNAJB13, DYNC2H1, EFEMP2, EPS8L2, EXPH5, FAM111B, FAR1, FERMT3, FSHB, GRIA4, HBG1, HEPACAM, HMBS, HPS5, HRAS, HYOU1, IFITM3, IFITM5, IGHMBP2, IL10RA, INS, IRF7, KCNA4, KCNJ11, KCNJ5, KLC2, LDHA, LGR4, LIPT2, LMO1, LMO2, LRP4, LRP5, LRRC56, MAML2, MED17, MEN1, MFRP, MMP1, MMP20, MMP3, MTNR1B, MUC5B, MYBPC3, MYO7A, MYRF, NARS2, NDUFS3, NUP160, OTOG, PACS1, PDHX, PEX16, PGR, PICALM, PNPLA2, PTH, PTPRJ, PUS3, PYGM, RAG1, RAPSN, RELA, ROBO3, ROM1, SDHAF2, SERPINH1, SHANK2, SIK3, SLC1A2, SLC22A12, SLC37A4, SLC39A13, SLC6A5, SMPD1, SPTBN2, ST14, STIM1, STT3A, TCIRG1, TECTA, TENM4, TH, TIRAP, TMEM216, TNNI2, TPCN2, TREH, TUB, TYR, UCP2, UCP3, UNC93B1, USH1C, VPS11, WT1, ZP1,

ABCC8	Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3) Hypoglycemia of infancy, leucine-sensitive, 240800 (3) Diabetes mellitus, noninsulin-dependent, 125853 (3) Diabetes mellitus, permanent neonatal, 606176 (3) Diabetes mellitus, transient neonatal 2, 610374 (3)
ACAD8	Isobutyryl-CoA dehydrogenase deficiency, 611283 (3)
ACER3	?Leukodystrophy, progressive, early childhood-onset, 617762 (3)
ACP2	?Lysosomal acid phosphatase deficiency, 200950 (1)
ACTN3	[Alpha-actinin-3 deficiency], 617749 (3) [Sprinting performance], 617749 (3)
AIP	Pituitary adenoma 1, multiple types, 102200 (3) Pituitary adenoma predisposition, 102200 (3)
ALG9	Gillessen-Kaesbach-Nishimura syndrome, 263210 (3) Congenital disorder of glycosylation, type Il, 608776 (3)
ALX4	Frontonasal dysplasia 2, 613451 (3) Parietal foramina 2, 609597 (3) {Craniosynostosis 5, susceptibility to}, 615529 (3)
AMPD3	[AMP deaminase deficiency, erythrocytic], 612874 (3)
ANO3	Dystonia 24, 615034 (3)
ANO5	Gnathodiaphyseal dysplasia, 166260 (3) Miyoshi muscular dystrophy 3, 613319 (3) Muscular dystrophy, limb-girdle, autosomal recessive 12, 611307 (3)
ARCN1	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164 (3)
ATM	Ataxia-telangiectasia, 208900 (3) Lymphoma, B-cell non-Hodgkin, somatic (3) Lymphoma, mantle cell, somatic (3) T-cell prolymphocytic leukemia, somatic (3) {Breast cancer, susceptibility to}, 114480 (3)
BEST1	Bestrophinopathy, autosomal recessive, 611809 (3) Macular dystrophy, vitelliform, 2, 153700 (3) Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220 (3) Retinitis pigmentosa, concentric, 613194 (3) Retinitis pigmentosa-50, 613194 (3) Vitreoretinochoroidopathy, 193220 (3)
BSCL2	Lipodystrophy, congenital generalized, type 2, 269700 (3) Encephalopathy, progressive, with or without lipodystrophy, 615924 (3) Neuropathy, distal hereditary motor, type VA, 600794 (3) Silver spastic paraplegia syndrome, 270685 (3)
C2CD3	?Orofaciodigital syndrome XIV, 615948 (3)
CABP2	Deafness, autosomal recessive 93, 614899 (3)
CAPN1	Spastic paraplegia 76, autosomal recessive, 616907 (3)
CAPN5	Vitreoretinopathy, neovascular inflammatory, 193235 (3)
CASP12	{Sepsis, susceptibility to} (3)
CATSPER1	Spermatogenic failure 7, 612997 (3)
CCND1	{Multiple myeloma, susceptibility to}, 254500 (3) {von Hippel-Lindau syndrome, modifier of}, 193300 (3) {Colorectal cancer, susceptibility to}, 114500 (3)
CD151	Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 (3) [Blood group, Raph], 179620 (3)
CD3E	Immunodeficiency 18, 615615 (3) Immunodeficiency 18, SCID variant, 615615 (3)
CD44	[Blood group, Indian system], 609027 (3)
CDON	Holoprosencephaly 11, 614226 (3)
CEP164	Nephronophthisis 15, 614845 (3)
CLCF1	Cold-induced sweating syndrome 2, 610313 (3)
CPT1A	CPT deficiency, hepatic, type IA, 255120 (3)
CREB3L1	Osteogenesis imperfecta, type XVI, 616229 (3)
CTNND1	Blepharocheilodontic syndrome 2, 617681 (3)
CTSC	Haim-Munk syndrome, 245010 (3) Papillon-Lefevre syndrome, 245000 (3) Periodontitis 1, juvenile, 170650 (3)
CTSD	Ceroid lipofuscinosis, neuronal, 10, 610127 (3)
CTSF	Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 (3)
CYP2R1	Rickets due to defect in vitamin D 25-hydroxylation, 600081 (3)
DCHS1	Mitral valve prolapse 2, 607829 (3) Van Maldergem syndrome 1, 601390 (3)
DCPS	Al-Raqad syndrome, 616459 (3)
DDB2	Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 (3)
DENND5A	Epileptic encephalopathy, early infantile, 49, 617281 (3)
DHCR7	Smith-Lemli-Opitz syndrome, 270400 (3)
DLAT	Pyruvate dehydrogenase E2 deficiency, 245348 (3)
DNAJB13	Ciliary dyskinesia, primary, 34, 617091 (3)
DYNC2H1	Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3)
EFEMP2	Cutis laxa, autosomal recessive, type IB, 614437 (3)
EPS8L2	Deafness autosomal recessive 106, 617637 (3)
EXPH5	Epidermolysis bullosa, nonspecific, autosomal recessive, 615028 (3)
FAM111B	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704 (3)
FAR1	Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154 (3)
FERMT3	Leukocyte adhesion deficiency, type III, 612840 (3)
FSHB	Hypogonadotropic hypogonadism 24 without anosmia, 229070 (3)
GRIA4	Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864 (3)
HBG1	Fetal hemoglobin quantitative trait locus 1, 141749 (3)
HEPACAM	Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 (3) Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926 (3)
HMBS	Porphyria, acute intermittent, 176000 (3) Porphyria, acute intermittent, nonerythroid variant, 176000 (3)
HPS5	Hermansky-Pudlak syndrome 5, 614074 (3)
HRAS	Bladder cancer, somatic, 109800 (3) Congenital myopathy with excess of muscle spindles, 218040 (3) Costello syndrome, 218040 (3) Nevus sebaceous or woolly hair nevus, somatic, 162900 (3) Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3) Spitz nevus or nevus spilus, somatic, 137550 (3) Thyroid carcinoma, follicular, somatic, 188470 (3)
HYOU1	?Immunodeficiency 59 and hypoglycemia, 233600 (3)
IFITM3	{Influenza, severe, susceptibility to}, 614680 (3)
IFITM5	Osteogenesis imperfecta, type V, 610967 (3)
IGHMBP2	Charcot-Marie-Tooth disease, axonal, type 2S, 616155 (3) Neuronopathy, distal hereditary motor, type VI, 604320 (3)
IL10RA	Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 (3)
INS	Hyperproinsulinemia, 616214 (3) Diabetes mellitus, insulin-dependent, 2, 125852 (3) Diabetes mellitus, permanent neonatal, 606176 (3) Maturity-onset diabetes of the young, type 10, 613370 (3)
IRF7	?Immunodeficiency 39, 616345 (3)
KCNA4	Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum, 618284 (3)
KCNJ11	Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3) Diabetes mellitus, transient neonatal, 3, 610582 (3) Diabetes, permanent neonatal, with or without neurologic features, 606176 (3) Maturity-onset diabetes of the young, type 13, 616329 (3) {Diabetes mellitus, type 2, susceptibility to}, 125853 (3)
KCNJ5	Hyperaldosteronism, familial, type III, 613677 (3) Long QT syndrome 13, 613485 (3)
KLC2	Spastic paraplegia, optic atrophy, and neuropathy, 609541 (3)
LDHA	Glycogen storage disease XI, 612933 (3)
LGR4	{Bone mineral density, low, susceptibility to}, 615311 (3)
LIPT2	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 (3)
LMO1	Leukemia, T-cell acute lymphoblastic (2)
LMO2	Leukemia, acute T-cell (2)
LRP4	Cenani-Lenz syndactyly syndrome, 212780 (3) ?Myasthenic syndrome, congenital, 17, 616304 (3) Sclerosteosis 2, 614305 (3)
LRP5	Hyperostosis, endosteal, 144750 (3) {Osteoporosis}, 166710 (3) Exudative vitreoretinopathy 4, 601813 (3) Osteopetrosis, autosomal dominant 1, 607634 (3) Osteoporosis-pseudoglioma syndrome, 259770 (3) Osteosclerosis, 144750 (3) Polycystic liver disease 4 with or without kidney cysts, 617875 (3) [Bone mineral density variability 1], 601884 (3) van Buchem disease, type 2, 607636 (3)
LRRC56	Ciliary dyskinesia, primary, 39, 618254 (3)
MAML2	Mucoepidermoid salivary gland carcinoma (3)
MED17	Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3)
MEN1	Adrenal adenoma, somatic (3) Angiofibroma, somatic (3) Carcinoid tumor of lung (3) Lipoma, somatic (3) Multiple endocrine neoplasia 1, 131100 (3) Parathyroid adenoma, somatic (3)
MFRP	Microphthalmia, isolated 5, 611040 (3) Nanophthalmos 2, 609549 (3)
MMP1	COPD, rate of decline of lung function in, 606963 (3) {Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600 (3)
MMP20	Amelogenesis imperfecta, type IIA2, 612529 (3)
MMP3	{Coronary heart disease, susceptibility to, 6}, 614466 (3)
MTNR1B	{Diabetes mellitus, type 2, susceptibility to}, 125853 (3)
MUC5B	{Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)
MYBPC3	Cardiomyopathy, dilated, 1MM, 615396 (3) Cardiomyopathy, hypertrophic, 4, 115197 (3) Left ventricular noncompaction 10, 615396 (3)
MYO7A	Deafness, autosomal dominant 11, 601317 (3) Deafness, autosomal recessive 2, 600060 (3) Usher syndrome, type 1B, 276900 (3)
MYRF	Cardiac-urogenital syndrome, 618280 (3) Encephalitis/encephalopathy, mild, with reversible myelin vacuolization, 618113 (3)
NARS2	Combined oxidative phosphorylation deficiency 24, 616239 (3)
NDUFS3	Mitochondrial complex I deficiency, nuclear type 8, 618230 (3)
NUP160	?Nephrotic syndrome, type 19, 618178 (3)
OTOG	Deafness, autosomal recessive 18B, 614945 (3)
PACS1	Schuurs-Hoeijmakers syndrome, 615009 (3)
PDHX	Lacticacidemia due to PDX1 deficiency, 245349 (3)
PEX16	Peroxisome biogenesis disorder 8A (Zellweger), 614876 (3) Peroxisome biogenesis disorder 8B, 614877 (3)
PGR	?Progesterone resistance, 264080 (2)
PICALM	Leukemia, acute myeloid, somatic, 601626 (3)
PNPLA2	Neutral lipid storage disease with myopathy, 610717 (3)
PTH	Hypoparathyroidism, autosomal dominant, 146200 (3) Hypoparathyroidism, autosomal recessive, 146200 (3)
PTPRJ	Colon cancer, somatic, 114500 (3)
PUS3	Mental retardation, autosomal recessive 55, 617051 (3)
PYGM	McArdle disease, 232600 (3)
RAG1	Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889 (3) Combined cellular and humoral immune defects with granulomas, 233650 (3) Omenn syndrome, 603554 (3) Severe combined immunodeficiency, B cell-negative, 601457 (3)
RAPSN	Fetal akinesia deformation sequence, 208150 (3) Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 (3)
RELA	?Mucocutaneous ulceration, chronic, 618287 (3)
ROBO3	Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 (3)
ROM1	Retinitis pigmentosa 7, digenic form, 608133 (3)
SDHAF2	Paragangliomas 2, 601650 (3)
SERPINH1	{Preterm premature rupture of the membranes, susceptibility to}, 610504 (3) Osteogenesis imperfecta, type X, 613848 (3)
SHANK2	{Autism susceptibility 17}, 613436 (3)
SIK3	?Spondyloepimetaphyseal dysplasia, Krakow type, 618162 (3)
SLC1A2	Epileptic encephalopathy, early infantile, 41, 617105 (3)
SLC22A12	Hypouricemia, renal, 220150 (3)
SLC37A4	Glycogen storage disease Ib, 232220 (3) Glycogen storage disease Ic, 232240 (3)
SLC39A13	Ehlers-Danlos syndrome, spondylodysplastic type, 3, 612350 (3)
SLC6A5	Hyperekplexia 3, 614618 (3)
SMPD1	Niemann-Pick disease, type A, 257200 (3) Niemann-Pick disease, type B, 607616 (3)
SPTBN2	Spinocerebellar ataxia 5, 600224 (3) Spinocerebellar ataxia, autosomal recessive 14, 615386 (3)
ST14	Ichthyosis, congenital, autosomal recessive 11, 602400 (3)
STIM1	Immunodeficiency 10, 612783 (3) Myopathy, tubular aggregate, 1 160565 (3) Stormorken syndrome, 185070 (3)
STT3A	?Congenital disorder of glycosylation, type Iw, 615596 (3)
TCIRG1	Osteopetrosis, autosomal recessive 1, 259700 (3)
TECTA	Deafness, autosomal dominant 8/12, 601543 (3) Deafness, autosomal recessive 21, 603629 (3)
TENM4	Essential tremor, hereditary, 5, 616736 (3)
TH	Segawa syndrome, recessive, 605407 (3)
TIRAP	{Malaria, protection against}, 611162 (3) {Pneumococcal disease, invasive, protection against}, 610799 (3) {Tuberculosis, protection against}, 607948 (3) {Bacteremia, protection against}, 614382 (3)
TMEM216	Joubert syndrome 2, 608091 (3) Meckel syndrome 2, 603194 (3)
TNNI2	Arthrogryposis multiplex congenita, distal, type 2B, 601680 (3)
TPCN2	[Skin/hair/eye pigmentation 10, blond/brown hair], 612267 (3)
TREH	Trehalase deficiency, 612119 (3)
TUB	?Retinal dystrophy and obesity, 616188 (3)
TYR	Albinism, oculocutaneous, type IA, 203100 (3) Albinism, oculocutaneous, type IB, 606952 (3) {Melanoma, cutaneous malignant, susceptibility to, 8}, 601800 (3) Waardenburg syndrome/albinism, digenic, 103470 (3) [Skin/hair/eye pigmentation 3, blue/green eyes], 601800 (3) [Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800 (3)
UCP2	{Obesity, susceptibility to, BMIQ4}, 607447 (3)
UCP3	{Obesity, severe, and type II diabetes}, 601665 (3)
UNC93B1	{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 (3)
USH1C	Deafness, autosomal recessive 18A, 602092 (3) Usher syndrome, type 1C, 276904 (3)
VPS11	Leukodystrophy, hypomyelinating, 12, 616683 (3)
WT1	Frasier syndrome, 136680 (3) Denys-Drash syndrome, 194080 (3) Meacham syndrome, 608978 (3) Mesothelioma, somatic, 156240 (3) Nephrotic syndrome, type 4, 256370 (3) Wilms tumor, type 1, 194070 (3)
ZP1	Oocyte maturation defect 1, 615774 (3)

Genes at Clinical Genomics Database

ABCC8, ACAD8, AIP, ALG9, ALX4, AMPD3, ANO3, ANO5, ATM, BDNF, BEST1, BSCL2, C2CD3, CABP2, CAPN1, CAPN5, CD151, CD3E, CD44, CDON, CEP164, CLCF1, CPT1A, CREB3L1, CTSC, CTSD, CTSF, CYP2R1, DCHS1, DCPS, DDB2, DHCR7, DLAT, DRD2, DYNC2H1, EFEMP2, EXPH5, FAM111B, FAR1, FERMT3, FSHB, GRIK4, HBG1, HEPACAM, HMBS, HPS5, HRAS, IFITM5, IGHMBP2, IL10RA, INS, IRF7, KCNJ11, KCNJ5, KIRREL3, KLC2, LDHA, LRP4, LRP5, MED17, MEN1, MFRP, MMP20, MYBPC3, MYO7A, NARS2, NDUFS3, NPAT, OTOG, PACS1, PDHX, PEX16, PNPLA2, PTH, PYGM, RAG1, RAPSN, ROBO3, ROM1, SDHAF2, SERPINH1, SHANK2, SLC22A12, SLC37A4, SLC39A13, SLC6A5, SMPD1, SPTBN2, ST14, STIM1, STT3A, TCIRG1, TECTA, TENM4, TH, TMEM216, TNNI2, TPCN2, TUB, TYR, UNC93B1, USH1C, VPS11, WT1, ZP1,

ABCC8	Diabetes mellitus, transient neonatal, 2 Diabetes, permanent neonatal Hyperinsulinemic hypoglycemia, familial, 1 Hypoglycemia, leucine-induced
ACAD8	Isobutyryl-CoA dehydrogenase deficiency
AIP	Pituitary adenoma, familial isolated
ALG9	Congenital disorder of glycosylation, type Il
ALX4	Parietal foramina 2 Frontonasal dysplasia 2
AMPD3	Erythrocytic AMP deaminase deficiency
ANO3	Craniocervical dystonia, autosomal dominant (Dystonia 24)
ANO5	Gnathodiaphyseal dysplasia
ATM	Breast cancer, susceptibility to Ataxia-Telangiectasia
BDNF	Central hypoventilation syndrome, congenital
BEST1	Vitreoretinochoroidopathy Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
BSCL2	Lipodystrophy, congenital generalized, type 2 Encephalopathy, progressive, with or without lipodystrophy
C2CD3	Orofaciodigital syndrome XIV
CABP2	Deafness, autosomal recessive 93
CAPN1	Spastic paraplegia 76, autosomal recessive
CAPN5	Vitreoretinopathy, neovascular inflammatory
CD151	Raph blood group
CD3E	Immunodeficiency 18
CD44	Blood group, Indian
CDON	Holoprosencephaly 11
CEP164	Nephronophthisis 15
CLCF1	Cold-induced sweating syndrome 2
CPT1A	Carnitine palmitoyltransferase deficiency I
CREB3L1	Osteogenesis imperfecta, type XVI
CTSC	Haim-Munk syndrome Papillon-Lefevre syndrome Periodontitis 1, juvenile
CTSD	Ceroid lipofuscinosis, neuronal, 10
CTSF	Neuronal ceroid lipofuscinosis 13
CYP2R1	Vitamin D hydroxylation deficient rickets, type 1B
DCHS1	Mitral valve prolapse 2
DCPS	Al-Raqad syndrome
DDB2	Xeroderma pigmentosum, group E
DHCR7	Smith-Lemli-Opitz syndrome
DLAT	Pyruvate dehydrogenase E2 deficiency
DRD2	Myoclonic dystonia
DYNC2H1	Short-rib thoracic dysplasia 3 with or without polydactyly
EFEMP2	Cutis laxa, autosomal recessive type IB
EXPH5	Epidermolysis bullosa, nonspecific, autosomal recessive
FAM111B	Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis
FAR1	Peroxisomal fatty acyl-CoA reductase 1 disorder
FERMT3	Leukocyte adhesion deficiency, type III
FSHB	Hypogonadotropic hypogonadism 24 without anosmia
GRIK4	Response to antidepressant treatment with citalopram
HBG1	Hereditary persistence of fetal hemoglobin
HEPACAM	Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation Megalencephalic leukoencephalopathy with subcortical cysts 2A
HMBS	Hydroxymethylbilane synthase deficiency Porphyria, acute intermittent
HPS5	Hermansky-Pudlak syndrome 5
HRAS	Costello syndrome Congenital myopathy with excess of muscle spindles
IFITM5	Osteogenesis imperfecta, type V
IGHMBP2	Spinal muscular atrophy, distal, autosomal recessive, 1 Charcot-Marie-Tooth disease, axonal, type 2S
IL10RA	Inflammatory bowel disease 28, autosomal recessive
INS	Diabetes mellitus, permanent neonatal
IRF7	Immunodeficiency 39
KCNJ11	Hyperinsulinemic hypoglycemia, familial, 2 Diabetes mellitus, transient neonatal, 3 Diabetes, permanent neonatal Diabetes, permanent neonatal, with Neurologic features
KCNJ5	Long QT syndrome 13 Hyperaldosteronism, familial, type III
KIRREL3	Mental retardation, autosomal dominant 4
KLC2	Spastic paraplegia, optic atrophy, and neuropathy
LDHA	Glycogen storage disease XI
LRP4	Cenani-Lenz syndactyly syndrome Myasthenic syndrome, congenital 17 Sclerosteosis 2
LRP5	van Buchem disease, type 2 Osteopetrosis, autosomal dominant 1 Osteosclerosis Hyperostosis, endosteal Exudative vitreoretinopathy 4 Osteoporosis-pseudoglioma syndrome
MED17	Microcephaly, postnatal progressive, with seizures and brain atrophy
MEN1	Multiple endocrine neoplasia type I Hyperparathyroidism, familial primary
MFRP	Microphthalmia, isolated 5 Nanophthalmos 2 Retinitis pigmentosa, autosomal recessive
MMP20	Amelogenesis imperfecta, hypomaturation type, IIA2
MYBPC3	Cardiomyopathy, familial hypertrophic, 4 Cardiomyopathy, dilated, 1MM Left ventricular noncompaction 10
MYO7A	Deafness, autosomal recessive 2 Usher syndrome, type 1B
NARS2	Combined oxidative phosphorylation deficiency 24
NDUFS3	Mitochondrial complex I deficiency Leigh syndrome
NPAT	Nodular lymphocyte predominant Hodgkin lymphoma, familial
OTOG	Deafness, autosomal recessive 18B
PACS1	Mental retardation, autosomal dominant 17
PDHX	Pyruvate dehydrogenase E3-binding protein deficiency
PEX16	Peroxisome biogenesis factor disorder 16
PNPLA2	Neutral lipid storage disease with myopathy
PTH	Hypoparathyroidism, familial isolated
PYGM	Glycogen storage disease V
RAG1	T cell-negative, B cell-negative, natural killer cell-positive severe combined immunodeficiency Omenn syndrome Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity Combined cellular and humoral immune defects with granulomas
RAPSN	Myasthenic syndrome, congenital 11, associated with acetylcholine receptor deficiency
ROBO3	Gaze palsy, horizontal, with progressive scoliosis
ROM1	Retinitis pigmentosa 7, digenic
SDHAF2	Paragangliomas 2
SERPINH1	Osteogenesis imperfecta, type X
SHANK2	Autism, susceptibility to 17
SLC22A12	Hypouricemia, renal 1
SLC37A4	Glycogen storage disease Ib Glycogen storage disease Ic Glycogen storage disease Id
SLC39A13	Spondylocheirodysplasia, Ehlers-Danlos syndrome-like
SLC6A5	Hyperekplexia 3
SMPD1	Niemann-Pick disease, type A Niemann-Pick disease, type B
SPTBN2	Spinocerebellar ataxia 5, autosomal dominant Spinocerebellar ataxia 14, autosomal recessive
ST14	Ichthyosis, congenital, autosomal recessive 11
STIM1	Stormorken syndrome Immunodeficiency 10
STT3A	Congenital disorder of glycosylation, type Iw
TCIRG1	Osteopetrosis, autosomal recessive 1
TECTA	Deafness, autosomal recessive 21 Deafness, autosomal dominant 8/12
TENM4	Tremor, hereditary essential, 5
TH	Segawa syndrome, autosomal recessive
TMEM216	Joubert syndrome 2 Meckel syndrome 2
TNNI2	Arthrogryposis multiplex congenita, distal, type 2B
TPCN2	Skin/hair/eye pigmentation, variation in, 10
TUB	Retinal dystrophy and obesity
TYR	Albinism, oculocutaneous, type IA Albinism, oculocutaneous, type IB
UNC93B1	Herpes simplex encephalitis, susceptibility to, 1
USH1C	Usher syndrome, type IC Deafness, autosomal recessive 18A
VPS11	Leukodystrophy, hypomyelinating 12
WT1	Denys-Drash syndrome Wilms tumor, type 1 Frasier syndrome
ZP1	Oocyte maturation defect 1

Genes at HGMD

Summary

Number of Variants: 3947
Number of Genes: 698

Export to: CSV

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ILK
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mp91583 both	11	rs2292195 dbSNP Clinvar	6631016	738.77	C	T	.	0/1	54	SYNONYMOUS_CODING	LOW	None	0.16014	0.16010	0.22734				None None	None None None None	ILK\|0.927031493\|2.82%,TAF10\|0.251862987\|31.38%
MFRP
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mp91583 both	11	rs36015759 dbSNP Clinvar	119216279	1082.77	G	A	.	0/1	85	SYNONYMOUS_CODING	LOW	None	0.20148	0.20150	0.22505				None None	None None None None	C1QTNF5\|0.125545582\|46.55%,MFRP\|0.053195246\|61.74%
CATSPER1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mp91583 both	11	rs1203998 dbSNP Clinvar	65793454	981.77	C	T	.	0/1	68	NON_SYNONYMOUS_CODING	MODERATE	None	0.33646	0.33650	0.33331	0.63	0.00		None None	None None None None	CATSPER1\|0.002272512\|90.24%
	View	mp91583 both	11	rs112725798 dbSNP Clinvar	65793707	1792.77	G	A	.	0/1	137	SYNONYMOUS_CODING	LOW	None	0.00599	0.00599	0.00493				None None	None None None None	CATSPER1\|0.002272512\|90.24%
KLC2
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mp91583 both	11	rs2276036 dbSNP Clinvar	66033430	1651.77	C	T	.	0/1	148	NON_SYNONYMOUS_CODING	MODERATE	None	0.19369	0.19370	0.17334	0.58	0.00		None None	None None None None	KLC2\|0.089392998\|53.36%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mp91583 both	11	.	67066621	12.05	T	G	LowQual	0/1	42	None	None	None							None None	None None None None	ANKRD13D\|0.070594446\|57.34%
GSTP1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mp91583 both	11	rs1695 dbSNP Clinvar	67352689	1147.77	A	G	.	0/1	109	NON_SYNONYMOUS_CODING	MODERATE	None	0.35264	0.35260	0.36084	1.00	0.00		None None	None None None None	GSTP1\|0.202165152\|36.51%
CABP2
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mp91583 both	11	rs2276118 dbSNP Clinvar	67288594	708.77	C	T	.	0/1	63	NON_SYNONYMOUS_CODING	MODERATE	None	0.42971	0.42970	0.41855	0.43	0.20		None None	None None None None	CABP2\|0.066822502\|58.19%
MMP8
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mp91583 both	11	rs3765620 dbSNP Clinvar	102595492	1229.77	G	A	.	1/1	44	NON_SYNONYMOUS_CODING	MODERATE	None	0.65435	0.65440	0.37735	0.33	0.00		None None	None None None None	MMP8\|0.030128828\|69.34%
MFRP
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mp91583 both	11	rs3814762 dbSNP Clinvar	119216504	666.77	C	T	.	0/1	57	NON_SYNONYMOUS_CODING	MODERATE	None	0.18211	0.18210	0.24638	0.78	0.00		None None	None None None None	C1QTNF5\|0.125545582\|46.55%,MFRP\|0.053195246\|61.74%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mp91583 both	11	rs883247 dbSNP Clinvar	119217254	527.77	C	T	.	0/1	30	None	None	None	0.63558	0.63560	0.43271				None None	None None None None	C1QTNF5\|0.125545582\|46.55%,MFRP\|0.053195246\|61.74%
TECTA
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mp91583 both	11	rs526433 dbSNP Clinvar	121032978	2245.77	G	A	.	1/1	68	NON_SYNONYMOUS_CODING	MODERATE	None	0.99681	0.99680	0.00792	1.00	0.00		None None	None None None None	TECTA\|0.598840822\|11.78%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mp91583 both	11	rs746127062 dbSNP Clinvar	2017713	167.77	T	G	.	0/1	8	None	None	None							None None	None None None None	None
	View	mp91583 both	11	rs73453179 dbSNP Clinvar	48367097	488.77	A	G	.	0/1	64	None	None	None							None None	None None None None	None
	View	mp91583 both	11	rs746372544 dbSNP Clinvar	71279877	72.77	G	A	.	0/1	96	None	None	None							None None	None None None None	KRTAP5-10\|0.003541067\|87.72%
	View	mp91583 both	11	rs79453749 dbSNP Clinvar	48367133	362.77	C	A	.	0/1	66	None	None	None		0.00060					None None	None None None None	None
	View	mp91583 both	11	rs77877396 dbSNP Clinvar	48373900	205.77	A	G	.	0/1	41	None	None	None							None None	None None None None	None
	View	mp91583 both	11	rs76304554 dbSNP Clinvar	48373936	57.77	A	G	.	0/1	25	None	None	None							None None	None None None None	None
	View	mp91583 both	11	rs386373809 dbSNP Clinvar	49076963	1133.73	C	CAA	.	1/1	30	None	None	None							None None	None None None None	TRIM64C\|0.000585811\|98%
	View	mp91583 both	11	rs569444 dbSNP Clinvar	102707305	1070.77	G	A	.	0/1	78	None	None	None	0.07488	0.07488					None None	None None None None	MMP3\|0.461471213\|17.61%
MMP3
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mp91583 both	11	rs679620 dbSNP Clinvar	102713620	553.77	T	C	.	0/1	30	NON_SYNONYMOUS_CODING	MODERATE	None	0.65216	0.65220	0.45278	0.73	0.00		None None	None None None None	MMP3\|0.461471213\|17.61%
DYNC2H1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mp91583 both	11	rs688906 dbSNP Clinvar	103029516	601.77	A	G	.	0/1	37	NON_SYNONYMOUS_CODING	MODERATE	None	0.66833	0.66830	0.32793	0.15	0.31		None None	None None None None	DYNC2H1\|0.272755366\|29.66%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mp91583 both	11	rs150627444,rs55687530 dbSNP Clinvar	66036293	903.73	A	ACC	.	1/1	45	None	None	None		0.74940					None None	None None None None	RAB1B\|0.461798778\|17.59%
	View	mp91583 both	11	rs7107433 dbSNP Clinvar	36293048	1526.77	G	A	.	1/1	44	None	None	None	0.65515	0.65520	0.34315				None None	None None None None	None
	View	mp91583 both	11	rs566629655 dbSNP Clinvar	36397655	456.73	A	AT	.	0/1	41	None	None	None							None None	None None None None	PRR5L\|0.156881935\|42.04%
	View	mp91583 both	11	rs868851738 dbSNP Clinvar	66036293	113.77	A	C	.	0/1	45	None	None	None		0.74940					None None	None None None None	RAB1B\|0.461798778\|17.59%
	View	mp91583 both	11	rs2170447 dbSNP Clinvar	55873475	272.77	C	T	.	0/1	27	None	None	None	0.22185	0.22180	0.19342				None None	None None None None	None
	View	mp91583 both	11	rs79877849 dbSNP Clinvar	55926840	739.77	A	T	.	1/1	21	None	None	None	0.18371	0.18370	0.11142				None None	None None None None	None
MUC5B
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mp91583 both	11	rs2075859 dbSNP Clinvar	1250488	525.77	C	T	.	0/1	45	SYNONYMOUS_CODING	LOW	None	0.39277	0.39280	0.31804				None None	None None None None	MUC5B\|0.001251586\|94.15%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mp91583 both	11	rs3024270 dbSNP Clinvar	2017439	2158.77	C	G	.	1/1	59	None	None	None	0.36542	0.36540	0.42413				None None	None None None None	None
MUC5B
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mp91583 both	11	rs4963031 dbSNP Clinvar	1264823	1210.77	T	C	.	1/1	50	NON_SYNONYMOUS_CODING	MODERATE	None	0.79693	0.79690	0.40770	0.22	0.00		None None	None None None None	MUC5B\|0.001251586\|94.15%
CATSPER1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mp91583 both	11	rs3814747 dbSNP Clinvar	65788072	3748.77	C	T	.	1/1	120	NON_SYNONYMOUS_CODING	MODERATE	None	0.93650	0.93650	0.03756	0.05	0.02		None None	None None None None	CATSPER1\|0.002272512\|90.24%
CEP164
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mp91583 both	11	rs573455 dbSNP Clinvar	117267884	1958.77	A	G	.	1/1	57	NON_SYNONYMOUS_CODING	MODERATE	None	0.46326	0.46330	0.46614	1.00	0.00		None None	None None None None	CEP164\|0.276473275\|29.41%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mp91583 both	11	rs61869654 dbSNP Clinvar	131310	61.28	T	G	.	1/1	7	None	None	None							None None	None None None None	None
	View	mp91583 both	11	rs796691481 dbSNP Clinvar	134722	306.77	G	T	.	0/1	136	None	None	None							None None	None None None None	None
	View	mp91583 both	11	rs76319939 dbSNP Clinvar	48366958	502.77	T	G	.	0/1	51	None	None	None							None None	None None None None	None
	View	mp91583 both	11	rs75689989 dbSNP Clinvar	48366971	474.77	G	C	.	0/1	61	None	None	None							None None	None None None None	None
	View	mp91583 both	11	rs75621879 dbSNP Clinvar	48366972	448.77	G	A	.	0/1	61	None	None	None							None None	None None None None	None
	View	mp91583 both	11	rs78661795 dbSNP Clinvar	48367190	268.77	A	T	.	0/1	69	None	None	None							None None	None None None None	None
	View	mp91583 both	11	rs79063955 dbSNP Clinvar	48367195	246.77	C	T	.	0/1	69	None	None	None							None None	None None None None	None
	View	mp91583 both	11	rs74815769 dbSNP Clinvar	48367249	611.77	C	T	.	0/1	72	None	None	None							None None	None None None None	None
	View	mp91583 both	11	rs76287086 dbSNP Clinvar	48367252	571.77	G	A	.	0/1	68	None	None	None							None None	None None None None	None
	View	mp91583 both	11	rs77483743 dbSNP Clinvar	48388698	327.77	C	T	.	0/1	58	None	None	None							None None	None None None None	None
	View	mp91583 both	11	rs78132200 dbSNP Clinvar	48388717	380.77	T	C	.	0/1	57	None	None	None							None None	None None None None	None
	View	mp91583 both	11	rs73453180 dbSNP Clinvar	48367311	835.77	T	C	.	0/1	75	None	None	None							None None	None None None None	None
	View	mp91583 both	11	rs73453183 dbSNP Clinvar	48367363	523.77	C	T	.	0/1	61	None	None	None							None None	None None None None	None
	View	mp91583 both	11	rs78788561 dbSNP Clinvar	48367387	452.77	C	T	.	0/1	58	None	None	None							None None	None None None None	None
	View	mp91583 both	11	rs74811639 dbSNP Clinvar	1212858	582.77	C	A	.	0/1	683	None	None	None							None None	None None None None	MUC5AC\|0.008237762\|82.42%
	View	mp91583 both	11	rs796069032 dbSNP Clinvar	1212864	22.79	C	T	LowQual	0/1	746	None	None	None							None None	None None None None	MUC5AC\|0.008237762\|82.42%
	View	mp91583 both	11	rs77576379 dbSNP Clinvar	48367419	401.77	G	A	.	0/1	45	None	None	None							None None	None None None None	None
	View	mp91583 both	11	rs79862170 dbSNP Clinvar	1212870	3540.77	C	T	.	0/1	762	None	None	None							None None	None None None None	MUC5AC\|0.008237762\|82.42%
	View	mp91583 both	11	rs75826663 dbSNP Clinvar	1212871	2246.77	T	C	.	0/1	784	None	None	None							None None	None None None None	MUC5AC\|0.008237762\|82.42%
	View	mp91583 both	11	rs36195734 dbSNP Clinvar	1212877	4603.77	A	G	.	0/1	946	None	None	None							None None	None None None None	MUC5AC\|0.008237762\|82.42%
	View	mp91583 both	11	rs200292517 dbSNP Clinvar	1212902	616.77	C	G	.	0/1	870	None	None	None							None None	None None None None	MUC5AC\|0.008237762\|82.42%
	View	mp91583 both	11	rs77782040 dbSNP Clinvar	1212921	628.77	C	T	.	0/1	810	None	None	None							None None	None None None None	MUC5AC\|0.008237762\|82.42%
	View	mp91583 both	11	rs77976451 dbSNP Clinvar	48367424	433.77	C	G	.	0/1	43	None	None	None							None None	None None None None	None
	View	mp91583 both	11	rs73453188 dbSNP Clinvar	48373748	331.77	C	G	.	0/1	53	None	None	None							None None	None None None None	None
	View	mp91583 both	11	rs73453191 dbSNP Clinvar	48373770	188.77	T	A	.	0/1	53	None	None	None							None None	None None None None	None
	View	mp91583 both	11	rs72896825 dbSNP Clinvar	48373797	143.77	C	T	.	0/1	48	None	None	None							None None	None None None None	None
	View	mp91583 both	11	rs75618010 dbSNP Clinvar	48373805	246.77	G	A	.	0/1	47	None	None	None							None None	None None None None	None
	View	mp91583 both	11	rs35216491 dbSNP Clinvar	1212954	519.77	C	A	.	0/1	527	None	None	None							None None	None None None None	MUC5AC\|0.008237762\|82.42%
	View	mp91583 both	11	rs75897537 dbSNP Clinvar	1213000	192.77	T	A	.	0/1	198	None	None	None							None None	None None None None	MUC5AC\|0.008237762\|82.42%
	View	mp91583 both	11	rs112704799 dbSNP Clinvar	1213004	613.77	T	C	.	0/1	209	None	None	None							None None	None None None None	MUC5AC\|0.008237762\|82.42%
	View	mp91583 both	11	rs28971119 dbSNP Clinvar	1213023	1443.77	G	C	.	0/1	258	None	None	None							None None	None None None None	MUC5AC\|0.008237762\|82.42%
	View	mp91583 both	11	rs28764936 dbSNP Clinvar	1213047	202.77	T	C	.	0/1	303	None	None	None							None None	None None None None	MUC5AC\|0.008237762\|82.42%
	View	mp91583 both	11	rs74350365 dbSNP Clinvar	48373815	179.77	A	G	.	0/1	41	None	None	None							None None	None None None None	None
	View	mp91583 both	11	rs75951679 dbSNP Clinvar	48373817	168.77	C	T	.	0/1	41	None	None	None							None None	None None None None	None
	View	mp91583 both	11	rs3898634 dbSNP Clinvar	48373820	184.77	A	C	.	0/1	41	None	None	None							None None	None None None None	None
	View	mp91583 both	11	rs77137100 dbSNP Clinvar	1213155	206.77	C	T	.	0/1	301	None	None	None							None None	None None None None	MUC5AC\|0.008237762\|82.42%
	View	mp91583 both	11	rs78460796 dbSNP Clinvar	56468819	280.77	C	T	.	0/1	25	None	None	None							None None	None None None None	None
	View	mp91583 both	11	rs77083631 dbSNP Clinvar	56468820	234.77	C	T	.	0/1	25	None	None	None							None None	None None None None	None
	View	mp91583 both	11	rs74046245 dbSNP Clinvar	1213174	1874.77	A	G	.	0/1	305	None	None	None							None None	None None None None	MUC5AC\|0.008237762\|82.42%
	View	mp91583 both	11	rs74046246 dbSNP Clinvar	1213177	1848.77	C	T	.	0/1	308	None	None	None							None None	None None None None	MUC5AC\|0.008237762\|82.42%
	View	mp91583 both	11	rs78119960 dbSNP Clinvar	56467816	246.77	G	T	.	0/1	65	None	None	None							None None	None None None None	None
	View	mp91583 both	11	rs72479396 dbSNP Clinvar	1213204	2906.77	C	G	.	0/1	318	None	None	None							None None	None None None None	MUC5AC\|0.008237762\|82.42%
	View	mp91583 both	11	rs377214284 dbSNP Clinvar	1213209	677.77	T	C	.	0/1	335	None	None	None							None None	None None None None	MUC5AC\|0.008237762\|82.42%
	View	mp91583 both	11	rs760860269 dbSNP Clinvar	1213210	681.77	G	A	.	0/1	335	None	None	None							None None	None None None None	MUC5AC\|0.008237762\|82.42%
	View	mp91583 both	11	rs67624660 dbSNP Clinvar	1213245	3898.77	T	A	.	0/1	369	None	None	None							None None	None None None None	MUC5AC\|0.008237762\|82.42%
	View	mp91583 both	11	rs370028072 dbSNP Clinvar	1213256	551.77	C	T	.	0/1	361	None	None	None							None None	None None None None	MUC5AC\|0.008237762\|82.42%
	View	mp91583 both	11	rs754474121,rs34845803 dbSNP Clinvar	46699494	80.73	GA	G	.	0/1	22	None	None	None							None None	None None None None	ARHGAP1\|0.356432776\|23.73%
LRP4
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mp91583 both	11	rs3816614 dbSNP Clinvar	46890165	1586.77	C	T	.	1/1	46	NON_SYNONYMOUS_CODING	MODERATE	None	0.57967	0.57970	0.33992	0.24	0.01		None None	None None None None	LRP4\|0.507499481\|15.5%
	View	mp91583 both	11	rs2306029 dbSNP Clinvar	46893108	655.77	T	C	.	0/1	45	NON_SYNONYMOUS_CODING	MODERATE	None	0.36761	0.36760	0.42531	0.37	0.30		None None	None None None None	LRP4\|0.507499481\|15.5%
RAPSN
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mp91583 both	11	rs45603036 dbSNP Clinvar	47463220	1072.77	C	T	.	0/1	96	SYNONYMOUS_CODING	LOW	None	0.07149	0.07149	0.11717				None None	None None None None	RAPSN\|0.501191515\|15.77%
	View	mp91583 both	11	rs7111873 dbSNP Clinvar	47469439	2015.77	A	G	.	0/1	154	SYNONYMOUS_CODING	LOW	None	0.62560	0.62560	0.37989				None None	None None None None	RAPSN\|0.501191515\|15.77%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mp91583 both	11	rs78036340 dbSNP Clinvar	56467819	231.77	A	G	.	0/1	67	None	None	None							None None	None None None None	None
	View	mp91583 both	11	rs73474897 dbSNP Clinvar	56467833	769.77	T	C	.	0/1	85	None	None	None							None None	None None None None	None
	View	mp91583 both	11	rs756261020 dbSNP Clinvar	107420447	610.77	T	C	.	0/1	41	None	None	None							None None	None None None None	ALKBH8\|0.091746155\|52.88%
	View	mp91583 both	11	rs76779582 dbSNP Clinvar	1213257	3045.77	T	C	.	0/1	337	None	None	None							None None	None None None None	MUC5AC\|0.008237762\|82.42%
	View	mp91583 both	11	rs75991767 dbSNP Clinvar	1213259	2881.77	T	G	.	0/1	343	None	None	None							None None	None None None None	MUC5AC\|0.008237762\|82.42%
	View	mp91583 both	11	rs72846341 dbSNP Clinvar	1213264	3951.77	G	A	.	0/1	363	None	None	None							None None	None None None None	MUC5AC\|0.008237762\|82.42%
	View	mp91583 both	11	rs78252457 dbSNP Clinvar	1213272	5390.77	A	C	.	0/1	451	None	None	None							None None	None None None None	MUC5AC\|0.008237762\|82.42%
	View	mp91583 both	11	rs71251383 dbSNP Clinvar	1213275	521.77	G	A	.	0/1	459	None	None	None							None None	None None None None	MUC5AC\|0.008237762\|82.42%
	View	mp91583 both	11	rs75618268 dbSNP Clinvar	1213281	6163.77	C	T	.	0/1	501	None	None	None							None None	None None None None	MUC5AC\|0.008237762\|82.42%
	View	mp91583 both	11	rs112774721 dbSNP Clinvar	1213287	2034.77	G	A	.	0/1	538	None	None	None							None None	None None None None	MUC5AC\|0.008237762\|82.42%
	View	mp91583 both	11	rs77207494 dbSNP Clinvar	1213293	3417.77	C	T	.	0/1	548	None	None	None							None None	None None None None	MUC5AC\|0.008237762\|82.42%
	View	mp91583 both	11	rs78466479 dbSNP Clinvar	1213296	913.77	A	G	.	0/1	563	None	None	None							None None	None None None None	MUC5AC\|0.008237762\|82.42%
	View	mp91583 both	11	rs61867532 dbSNP Clinvar	1213428	10135.77	T	C	.	0/1	580	None	None	None							None None	None None None None	MUC5AC\|0.008237762\|82.42%
	View	mp91583 both	11	rs61867533 dbSNP Clinvar	1213440	11877.77	T	C	.	0/1	568	None	None	None							None None	None None None None	MUC5AC\|0.008237762\|82.42%
	View	mp91583 both	11	rs61867534 dbSNP Clinvar	1213461	4557.77	T	G	.	0/1	526	None	None	None							None None	None None None None	MUC5AC\|0.008237762\|82.42%
	View	mp91583 both	11	rs73395699 dbSNP Clinvar	1213533	5090.77	C	T	.	0/1	352	None	None	None							None None	None None None None	MUC5AC\|0.008237762\|82.42%

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+ Genes 698

+ Genes associated with diseases 138

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

ILK

MFRP

CATSPER1

KLC2

GSTP1

CABP2

MMP8

MFRP

TECTA

MMP3

DYNC2H1

MUC5B

MUC5B

CATSPER1

CEP164

LRP4

RAPSN

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