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+ Genes 617

Genes:
AATF, AATK, ABCA10, ABCA5, ABCA6, ABCA8, ABCA9, ABCC3, ABHD15, ABI3, ABR, AC087645.1, AC090616.2, ACACA, ACADVL, ACAP1, ACE, ACLY, ACOX1, ACTG1, ADAM11, ADORA2B, AIPL1, AKAP1, AKAP10, ALDH3A1, ALKBH5, ALOX12, ALOX15B, ALOXE3, AMZ2, ANKFN1, ANKFY1, AP2B1, APOH, APPBP2, ARHGAP23, ARHGAP27, ARHGEF15, ARL5C, ARRB2, ARSG, ASB16, ASGR1, ASPSCR1, ATAD5, ATP1B2, ATP2A3, ATP6V0A1, AURKB, AXIN2, AZI1, B3GNTL1, B4GALNT2, B9D1, BCAS3, BCL6B, BECN1, BIRC5, BPTF, BRCA1, BRIP1, BZRAP1, C17orf100, C17orf102, C17orf104, C17orf47, C17orf49, C17orf53, C17orf58, C17orf59, C17orf64, C17orf70, C17orf72, C17orf74, C17orf77, C17orf78, C17orf80, C17orf82, C17orf96, C17orf97, C17orf99, CACNA1G, CACNG5, CALCOCO2, CAMKK1, CAMTA2, CARD14, CASKIN2, CBX2, CBX8, CCDC137, CCDC144A, CCDC144NL, CCDC182, CCDC40, CCDC57, CCL15, CCL2, CCL23, CCL4, CCL8, CCT6B, CD300C, CD300E, CD300LB, CD300LF, CD79B, CDC27, CDR2L, CDRT1, CDRT15, CDRT4, CEP112, CHD3, CHRNB1, CISD3, CLDN7, CLEC10A, CLUH, CNP, CNTNAP1, CNTROB, COG1, COIL, COL1A1, COPRS, COPS3, COX10, CSF3, CSH1, CTC1, CTDNEP1, CTNS, CXCL16, CYGB, DCAF7, DCAKD, DCXR, DDC8, DDX42, DDX5, DDX52, DGKE, DHRS11, DHX8, DLG4, DNAH17, DNAH17-AS1, DNAH2, DNAH9, DNAI2, DOC2B, DPH1, DRG2, DUS1L, DVL2, EFCAB13, EFCAB3, EFCAB5, EIF4A1, EIF5A, ELAC2, ELP5, EME1, ENDOV, ENO3, ENPP7, ENTHD2, EPN2, EPN3, EPX, ERAL1, ERBB2, EVI2A, EVPL, EVPLL, FADS6, FAM104A, FAM187A, FAM20A, FAM211A, FAM215A, FAM83G, FASN, FBF1, FBXO39, FBXO47, FBXW10, FDXR, FLCN, FLII, FMNL1, FN3K, FN3KRP, FNDC8, FOXK2, FOXN1, FSCN2, FTSJ3, GAA, GAS2L2, GAS7, GAST, GEMIN4, GFAP, GGNBP2, GGT6, GID4, GIP, GIT1, GJD3, GLTPD2, GNGT2, GOSR2, GPATCH8, GPR142, GPR179, GPS2, GRB7, GRIN2C, GSDMA, GSDMB, GSG2, GUCY2D, H3F3B, HAP1, HDAC5, HELZ, HES7, HEXDC, HEXIM1, HID1, HIGD1B, HOXB1, HOXB13, HOXB3, HOXB5, HOXB7, HS3ST3B1, HSF5, ICT1, IFI35, IKZF3, INCA1, INTS2, ITGA2B, ITGAE, ITGB3, ITGB4, JUP, KANSL1, KAT7, KCNH6, KCNJ12, KCNJ16, KCNJ2, KDM6B, KIAA0195, KIAA0753, KIF18B, KIF19, KIF1C, KIF2B, KLHL10, KLHL11, KPNA2, KRBA2, KRT10, KRT12, KRT13, KRT14, KRT15, KRT16, KRT19, KRT24, KRT25, KRT26, KRT27, KRT28, KRT32, KRT33A, KRT35, KRT36, KRT38, KRT39, KRT40, KRT9, KRTAP16-1, KRTAP17-1, KRTAP2-4, KRTAP29-1, KRTAP4-1, KRTAP4-11, KRTAP4-16P, KRTAP4-2, KRTAP4-5, KRTAP4-6, KRTAP4-7, KRTAP4-8, KRTAP4-9, KRTAP9-1, KRTAP9-2, KRTAP9-3, KRTAP9-4, KRTAP9-6, KRTAP9-8, KSR1, LASP1, LGALS3BP, LGALS9B, LGALS9C, LLGL1, LLGL2, LPO, LRRC37A, LRRC37A2, LRRC37A3, LRRC37B, LRRC45, LSMD1, LUC7L3, MAP2K3, MAP2K6, MAPT, MARCH10, MED13, METRNL, METTL2A, MFSD6L, MGAT5B, MIEF2, MINK1, MKS1, MLLT6, MMP28, MPO, MPP2, MPRIP, MRC2, MRPL10, MRPL38, MRPL45, MRPS7, MSL1, MXRA7, MYADML2, MYBBP1A, MYCBPAP, MYH1, MYH10, MYH13, MYH2, MYH3, MYH4, MYH8, MYO15A, MYO15B, MYO18A, MYO19, MYO1C, MYO1D, NACA2, NAGLU, NBR1, NCOR1, NDEL1, NEURL4, NF1, NLE1, NLGN2, NLK, NLRP1, NMT1, NOL11, NOS2, NPEPPS, NPTX1, NSRP1, NT5C, NT5C3B, NTN1, NUFIP2, NUP85, NUP88, ODF4, OGFOD3, OR1A1, OR1A2, OR1D5, OR1E1, OR1E2, OR3A1, OR3A3, OR4D1, OR4D2, OSBPL7, OTOP2, OTOP3, OXLD1, P2RX5, PCTP, PDE6G, PDK2, PELP1, PEMT, PER1, PFAS, PGAP3, PGS1, PIK3R5, PIK3R6, PITPNM3, PLCD3, PLD2, PLEKHH3, PLXDC1, PNPO, POLDIP2, POLG2, POLR2A, PPM1E, PPP1R9B, PRKAR1A, PRKCA, PRPF8, PRPSAP1, PRPSAP2, PSMB6, PSMC5, PSMD3, PTGES3L-AARSD1, PYCR1, PYY, QRICH2, RAB11FIP4, RAB40B, RABEP1, RAD51D, RAI1, RAP1GAP2, RBFOX3, RECQL5, RFNG, RGS9, RHBDF2, RHOT1, RNF213, RNF43, RNFT1, RP11-1055B8.7, RP11-1407O15.2, RP11-477N12.3, RP11-51L5.7, RPA1, RPAIN, RPH3AL, RPTOR, RTN4RL1, RUNDC1, RUNDC3A, SARM1, SAT2, SCARF1, SCIMP, SCN4A, SCRN2, SDK2, SEC14L1, SECTM1, SENP3, SEPT9, SERPINF1, SERPINF2, SEZ6, SGSM2, SHMT1, SHPK, SIRT7, SKAP1, SLC13A2, SLC16A13, SLC16A3, SLC16A5, SLC16A6, SLC25A10, SLC25A19, SLC25A39, SLC2A4, SLC35G6, SLC38A10, SLC39A11, SLC43A2, SLC46A1, SLC4A1, SLC52A1, SLC5A10, SLFN11, SLFN12, SLFN12L, SLFN13, SLFN14, SLFN5, SMCR8, SMG6, SMG8, SMTNL2, SMYD4, SOCS7, SP2, SPATA20, SPNS2, SPNS3, SPPL2C, SREBF1, SRSF2, STARD3, STRADA, STX8, STXBP4, SUPT6H, SYNGR2, SYNRG, TADA2A, TANC2, TAOK1, TAX1BP3, TBC1D16, TBC1D26, TBC1D28, TBC1D3, TBCD, TBKBP1, TBX2, TCAP, TEKT1, TEKT3, TEN1, TEX14, TLCD2, TM4SF5, TMC6, TMC8, TMEM104, TMEM107, TMEM132E, TMEM235, TMEM256-PLSCR3, TMEM88, TMEM92, TMEM99, TNFRSF13B, TNFSF12, TNFSF12-TNFSF13, TNK1, TNS4, TOB1, TOP3A, TP53, TRIM16, TRIM16L, TRIM25, TRIM47, TRIM65, TRPV1, TRPV2, TRPV3, TSEN54, TSPAN10, TTC19, TTLL6, TTYH2, TUBD1, TUBG2, TUSC5, TVP23B, UBALD2, UBB, UBE2Z, UBTF, ULK2, UNC13D, UNK, USP22, USP43, USP6, UTP18, UTP6, VAT1, VEZF1, VMO1, VPS53, VTN, WDR16, WDR81, WFIKKN2, WIPI1, WNK4, WNT9B, WSB1, WSCD1, XAF1, XYLT2, YBX2, ZACN, ZMYND15, ZNF18, ZNF286A, ZNF286B, ZNF287, ZNF385C, ZNF594, ZNF624, ZNF750, ZNF830, ZPBP2, ZZEF1,

+ Genes associated with diseases 132

Genes at Omim

ABCA5, ACACA, ACADVL, ACE, ACOX1, ACTG1, AIPL1, AKAP10, ALOXE3, ARSG, ASPSCR1, AXIN2, B9D1, BPTF, BRCA1, BRIP1, CACNA1G, CARD14, CBX2, CCDC40, CCL2, CD79B, CHD3, CHRNB1, CNTNAP1, COG1, COL1A1, COX10, CSH1, CTC1, CTNS, DCXR, DGKE, DNAH9, DNAI2, DPH1, ELAC2, ENO3, EPX, ERAL1, ERBB2, FAM20A, FDXR, FLCN, FOXN1, FSCN2, GAA, GEMIN4, GFAP, GOSR2, GPR179, GUCY2D, HES7, HOXB1, HOXB13, ITGA2B, ITGB3, ITGB4, JUP, KANSL1, KCNJ2, KIAA0753, KIF1C, KLHL10, KRT10, KRT12, KRT13, KRT14, KRT16, KRT25, KRT9, MAPT, MKS1, MPO, MRPS7, MYH2, MYH3, MYH8, MYO15A, NAGLU, NF1, NLRP1, NTN1, NUP85, PDE6G, PGAP3, PIK3R5, PITPNM3, PNPO, POLG2, PRKAR1A, PRKCA, PRPF8, PYCR1, QRICH2, RAD51D, RAI1, RGS9, RHBDF2, RNF213, RNF43, SCN4A, SEPT9, SERPINF1, SHPK, SLC25A19, SLC46A1, SLC4A1, SLC52A1, SLFN14, STRADA, TBCD, TBX2, TCAP, TEX14, TMC6, TMC8, TMEM107, TNFRSF13B, TOP3A, TP53, TRPV3, TSEN54, TTC19, UBTF, UNC13D, VPS53, WDR81, WNK4, XYLT2, ZMYND15, ZNF750,
ABCA5 ?Hypertrichosis, congenital generalized, with gingival hyperplasia, 135400 (3)
ACACA Acetyl-CoA carboxylase deficiency, 613933 (1)
ACADVL VLCAD deficiency, 201475 (3)
ACE {Microvascular complications of diabetes 3}, 612624 (3)
{Myocardial infarction, susceptibility to} (3)
{SARS, progression of} (3)
{Stroke, hemorrhagic}, 614519 (3)
Renal tubular dysgenesis, 267430 (3)
[Angiotensin I-converting enzyme, benign serum increase] (3)
ACOX1 Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)
ACTG1 Baraitser-Winter syndrome 2, 614583 (3)
Deafness, autosomal dominant 20/26, 604717 (3)
AIPL1 Cone-rod dystrophy, 604393 (3)
Leber congenital amaurosis 4, 604393 (3)
Retinitis pigmentosa, juvenile, 604393 (3)
AKAP10 {Cardiac conduction defect, susceptibility to}, 115080 (3)
ALOXE3 Ichthyosis, congenital, autosomal recessive 3, 606545 (3)
ARSG Usher syndrome, type IV, 618144 (3)
ASPSCR1 Alveolar soft-part sarcoma, 606243 (3)
AXIN2 Colorectal cancer, somatic, 114500 (3)
Oligodontia-colorectal cancer syndrome, 608615 (3)
B9D1 Joubert syndrome 27, 617120 (3)
?Meckel syndrome 9, 614209 (3)
BPTF Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755 (3)
BRCA1 Fanconi anemia, complementation group S, 617883 (3)
{Pancreatic cancer, susceptibility to, 4}, 614320 (3)
{Breast-ovarian cancer, familial, 1}, 604370 (3)
BRIP1 Fanconi anemia, complementation group J, 609054 (3)
{Breast cancer, early-onset, susceptibility to}, 114480 (3)
CACNA1G Spinocerebellar ataxia 42, 616795 (3)
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087 (3)
CARD14 Pityriasis rubra pilaris, 173200 (3)
Psoriasis 2, 602723 (3)
CBX2 ?46XY sex reversal 5, 613080 (3)
CCDC40 Ciliary dyskinesia, primary, 15, 613808 (3)
CCL2 {HIV-1, resistance to}, 609423 (3)
{Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
{Spina bifida, susceptibility to}, 182940 (3)
{Coronary artery disease, modifier of} (3)
CD79B Agammaglobulinemia 6, 612692 (3)
CHD3 Snijders Blok-Campeau syndrome, 618205 (3)
CHRNB1 Myasthenic syndrome, congenital, 2A, slow-channel, 616313 (3)
?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 (3)
CNTNAP1 Hypomyelinating neuropathy, congenital, 3, 618186 (3)
Lethal congenital contracture syndrome 7, 616286 (3)
COG1 Congenital disorder of glycosylation, type IIg, 611209 (3)
COL1A1 Caffey disease, 114000 (3)
Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060 (3)
Osteogenesis imperfecta, type I, 166200 (3)
Osteogenesis imperfecta, type II, 166210 (3)
Osteogenesis imperfecta, type III, 259420 (3)
Osteogenesis imperfecta, type IV, 166220 (3)
{Bone mineral density variation QTL, osteoporosis}, 166710 (3)
COX10 Leigh syndrome due to mitochondrial COX4 deficiency, 256000 (3)
Mitochondrial complex IV deficiency, 220110 (3)
CSH1 [Placental lactogen deficiency] (1)
CTC1 Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3)
CTNS Cystinosis, atypical nephropathic, 219800 (3)
Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 (3)
Cystinosis, nephropathic, 219800 (3)
Cystinosis, ocular nonnephropathic, 219750 (3)
DCXR [Pentosuria], 260800 (3)
DGKE {Hemolytic uremic syndrome, atypical, susceptibility to, 7}, 615008 (3)
Nephrotic syndrome, type 7, 615008 (3)
DNAH9 Ciliary dyskinesia, primary, 40, 618300 (3)
DNAI2 Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3)
DPH1 Developmental delay with short stature, dysmorphic features, and sparse hair, 616901 (3)
ELAC2 Combined oxidative phosphorylation deficiency 17, 615440 (3)
{Prostate cancer, hereditary, 2, susceptibility to}, 614731 (3)
ENO3 ?Glycogen storage disease XIII, 612932 (3)
EPX [Eosinophil peroxidase deficiency], 261500 (3)
ERAL1 Perrault syndrome 6, 617565 (3)
ERBB2 Adenocarcinoma of lung, somatic, 211980 (3)
Gastric cancer, somatic, 613659 (3)
Glioblastoma, somatic, 137800 (3)
Ovarian cancer, somatic, (3)
FAM20A Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 (3)
FDXR Auditory neuropathy and optic atrophy, 617717 (3)
FLCN Birt-Hogg-Dube syndrome, 135150 (3)
Colorectal cancer, somatic, 114500 (3)
Pneumothorax, primary spontaneous, 173600 (3)
Renal carcinoma, chromophobe, somatic, 144700 (3)
FOXN1 T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3)
FSCN2 Retinitis pigmentosa 30, 607921 (3)
GAA Glycogen storage disease II, 232300 (3)
GEMIN4 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 (3)
GFAP Alexander disease, 203450 (3)
GOSR2 Epilepsy, progressive myoclonic 6, 614018 (3)
GPR179 Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3)
GUCY2D Cone-rod dystrophy 6, 601777 (3)
Leber congenital amaurosis 1, 204000 (3)
?Choroidal dystrophy, central areolar 1, 215500 (3)
HES7 Spondylocostal dysostosis 4, autosomal recessive, 613686 (3)
HOXB1 Facial paresis, hereditary congenital, 3, 614744 (3)
HOXB13 {Prostate cancer, hereditary, 9}, 610997 (3)
ITGA2B Glanzmann thrombasthenia, 273800 (3)
Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3)
Thrombocytopenia, neonatal alloimmune, BAK antigen related (3)
ITGB3 Glanzmann thrombasthenia, 273800 (3)
Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3)
{Myocardial infarction, susceptibility to}, 608446 (3)
Purpura, posttransfusion (3)
Thrombocytopenia, neonatal alloimmune (3)
ITGB4 Epidermolysis bullosa of hands and feet, 131800 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3)
JUP Arrhythmogenic right ventricular dysplasia 12, 611528 (3)
Naxos disease, 601214 (3)
KANSL1 Koolen-De Vries syndrome, 610443 (3)
KCNJ2 Andersen syndrome, 170390 (3)
Atrial fibrillation, familial, 9, 613980 (3)
Short QT syndrome 3, 609622 (3)
KIAA0753 ?Orofaciodigital syndrome XV, 617127 (3)
KIF1C Spastic ataxia 2, autosomal recessive, 611302 (3)
KLHL10 Spermatogenic failure 11, 615081 (3)
KRT10 Ichthyosis with confetti, 609165 (3)
Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)
Epidermolytic hyperkeratosis, 113800 (3)
KRT12 Meesmann corneal dystrophy, 122100 (3)
KRT13 White sponge nevus 2, 615785 (3)
KRT14 Dermatopathia pigmentosa reticularis, 125595 (3)
Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3)
Epidermolysis bullosa simplex, Koebner type, 131900 (3)
Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3)
Epidermolysis bullosa simplex, recessive 1, 601001 (3)
Naegeli-Franceschetti-Jadassohn syndrome, 161000 (3)
KRT16 Pachyonychia congenita 1, 167200 (3)
Palmoplantar keratoderma, nonepidermolytic, focal, 613000 (3)
KRT25 Woolly hair, autosomal recessive 3, 616760 (3)
KRT9 Palmoplantar keratoderma, epidermolytic, 144200 (3)
MAPT Dementia, frontotemporal, with or without parkinsonism, 600274 (3)
{Parkinson disease, susceptibility to}, 168600 (3)
Pick disease, 172700 (3)
Supranuclear palsy, progressive atypical, 260540 (3)
Supranuclear palsy, progressive, 601104 (3)
MKS1 Bardet-Biedl syndrome 13, 615990 (3)
Joubert syndrome 28, 617121 (3)
Meckel syndrome 1, 249000 (3)
MPO {Lung cancer, protection against, in smokers} (3)
Myeloperoxidase deficiency, 254600 (3)
{Alzheimer disease, susceptibility to}, 104300 (3)
MRPS7 ?Combined oxidative phosphorylation deficiency 34, 617872 (3)
MYH2 Proximal myopathy and ophthalmoplegia, 605637 (3)
MYH3 Arthrogryposis, distal, type 2A, 193700 (3)
Arthrogryposis, distal, type 2B, 601680 (3)
Arthrogryposis, distal, type 8, 178110 (3)
MYH8 Carney complex variant, 608837 (3)
Trismus-pseudocamptodactyly syndrome, 158300 (3)
MYO15A Deafness, autosomal recessive 3, 600316 (3)
NAGLU Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3)
?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 (3)
NF1 Leukemia, juvenile myelomonocytic, 607785 (3)
Neurofibromatosis, familial spinal, 162210 (3)
Neurofibromatosis, type 1, 162200 (3)
Neurofibromatosis-Noonan syndrome, 601321 (3)
Watson syndrome, 193520 (3)
NLRP1 Autoinflammation with arthritis and dyskeratosis, 617388 (3)
{Vitiligo-associated multiple autoimmune disease susceptibility 1}, 606579 (3)
Palmoplantar carcinoma, multiple self-healing, 615225 (3)
NTN1 Mirror movements 4, 618264 (3)
NUP85 Nephrotic syndrome, type 17, 618176 (3)
PDE6G Retinitis pigmentosa 57, 613582 (3)
PGAP3 Hyperphosphatasia with mental retardation syndrome 4, 615716 (3)
PIK3R5 Ataxia-oculomotor apraxia 3, 615217 (3)
PITPNM3 Cone-rod dystrophy 5, 600977 (3)
PNPO Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3)
POLG2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 (3)
PRKAR1A Adrenocortical tumor, somatic, (3)
Carney complex, type 1, 160980 (3)
Acrodysostosis 1, with or without hormone resistance, 101800 (3)
Myxoma, intracardiac, 255960 (3)
Pigmented nodular adrenocortical disease, primary, 1, 610489 (3)
PRKCA Pituitary tumor, invasive (3)
PRPF8 Retinitis pigmentosa 13, 600059 (3)
PYCR1 Cutis laxa, autosomal recessive, type IIB, 612940 (3)
Cutis laxa, autosomal recessive, type IIIB, 614438 (3)
QRICH2 Spermatogenic failure 35, 618341 (3)
RAD51D {Breast-ovarian cancer, familial, susceptibility to, 4}, 614291 (3)
RAI1 Smith-Magenis syndrome, 182290 (3)
RGS9 Bradyopsia, 608415 (3)
RHBDF2 Tylosis with esophageal cancer, 148500 (3)
RNF213 {Moyamoya disease 2, susceptibility to}, 607151 (3)
RNF43 Sessile serrated polyposis cancer syndrome, 617108 (3)
SCN4A Hyperkalemic periodic paralysis, type 2, 170500 (3)
Hypokalemic periodic paralysis, type 2, 613345 (3)
Myasthenic syndrome, congenital, 16, 614198 (3)
Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3)
Paramyotonia congenita, 168300 (3)
SEPT9 Amyotrophy, hereditary neuralgic, 162100 (3)
Leukemia, acute myeloid, therapy-related (1)
Ovarian carcinoma (1)
SERPINF1 Osteogenesis imperfecta, type VI, 613982 (3)
SHPK [Sedoheptulokinase deficiency], 617213 (3)
SLC25A19 Microcephaly, Amish type, 607196 (3)
Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (3)
SLC46A1 Folate malabsorption, hereditary, 229050 (3)
SLC4A1 Cryohydrocytosis, 185020 (3)
Ovalocytosis, SA type, 166900 (3)
Renal tubular acidosis, distal, AD, 179800 (3)
Renal tubular acidosis, distal, AR, 611590 (3)
Spherocytosis, type 4, 612653 (3)
[Blood group, Diego], 110500 (3)
[Blood group, Froese], 601551 (3)
[Blood group, Swann], 601550 (3)
[Blood group, Waldner], 112010 (3)
[Blood group, Wright], 112050 (3)
[Malaria, resistance to], 611162 (3)
SLC52A1 Riboflavin deficiency, 615026 (3)
SLFN14 Bleeding disorder, platelet-type, 20, 616913 (3)
STRADA Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3)
TBCD Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3)
TBX2 Vertebral anomalies and variable endocrine and T-cell dysfunction, 618223 (3)
TCAP Cardiomyopathy, hypertrophic, 25, 607487 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 7, 601954 (3)
TEX14 ?Spermatogenic failure 23, 617707 (3)
TMC6 Epidermodysplasia verruciformis, 226400 (3)
TMC8 Epidermodysplasia verruciformis 2, 618231 (3)
TMEM107 Meckel syndrome 13, 617562 (3)
Orofaciodigital syndrome XVI, 617563 (3)
?Joubert syndrome 29, 617562 (3)
TNFRSF13B Immunodeficiency, common variable, 2, 240500 (3)
Immunoglobulin A deficiency 2, 609529 (3)
TOP3A Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097 (3)
?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 (3)
TP53 {Glioma susceptibility 1}, 137800 (3)
Bone marrow failure syndrome 5, 618165 (3)
Breast cancer, somatic, 114480 (3)
Hepatocellular carcinoma, somatic, 114550 (3)
{Osteosarcoma}, 259500 (3)
Li-Fraumeni syndrome, 151623 (3)
Nasopharyngeal carcinoma, somatic, 607107 (3)
Pancreatic cancer, somatic 260350 (3)
{Adrenocortical carcinoma, pediatric}, 202300 (3)
{Basal cell carcinoma 7}, 614740 (3)
{Choroid plexus papilloma}, 260500 (3)
{Colorectal cancer}, 114500 (3)
TRPV3 Olmsted syndrome, 614594 (3)
?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400 (3)
TSEN54 Pontocerebellar hypoplasia type 2A, 277470 (3)
Pontocerebellar hypoplasia type 4, 225753 (3)
?Pontocerebellar hypoplasia type 5, 610204 (3)
TTC19 Mitochondrial complex III deficiency, nuclear type 2, 615157 (3)
UBTF Neurodegeneration, childhood-onset, with brain atrophy, 617672 (3)
UNC13D Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)
VPS53 Pontocerebellar hypoplasia, type 2E, 615851 (3)
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)
Hydrocephalus, congenital, 3, with brain anomalies, 617967 (3)
WNK4 Pseudohypoaldosteronism, type IIB, 614491 (3)
XYLT2 {Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3)
Spondyloocular syndrome, 605822 (3)
ZMYND15 ?Spermatogenic failure 14, 615842 (3)
ZNF750 Seborrhea-like dermatitis with psoriasiform elements, 610227 (3)

Genes at Clinical Genomics Database

ABCA5, ACADVL, ACE, ACOX1, ACTG1, AIPL1, ALOXE3, AXIN2, B9D1, BRCA1, BRIP1, CACNA1G, CARD14, CBX2, CCDC137, CCDC40, CD79B, CHRNB1, CNTNAP1, COG1, COL1A1, COX10, CTC1, CTNS, DCXR, DGKE, DNAI2, DPH1, ELAC2, ENO3, EPX, FAM20A, FLCN, FOXN1, FSCN2, GAA, GFAP, GOSR2, GPR179, GUCY2D, HES7, HOXB1, ITGA2B, ITGB3, ITGB4, JUP, KANSL1, KCNJ2, KIF1C, KLHL10, KRT10, KRT12, KRT13, KRT14, KRT16, KRT25, KRT9, MAPT, MKS1, MPO, MYH2, MYH3, MYH8, MYO15A, NAGLU, NF1, NLRP1, PDE6G, PGAP3, PIK3R5, PITPNM3, PNPO, POLG2, PRKAR1A, PRPF8, PYCR1, RAD51D, RAI1, RGS9, RHBDF2, RNF213, SCN4A, SEPT9, SERPINF1, SERPINF2, SLC25A19, SLC46A1, SLC4A1, SLC52A1, SLFN14, STRADA, TCAP, TMC6, TMC8, TNFRSF13B, TP53, TRPV3, TSEN54, TTC19, UNC13D, VPS53, WDR81, WNK4, ZMYND15, ZNF750,
ABCA5 Hypertrichosis terminalis, generalized, with or without gingival hyperplasia
ACADVL Acyl-CoA dehydrogenase, very long chain, deficiency of
ACE Renal tubular dysgenesis
ACE serum levels
ACOX1 Peroxisomal acyl-CoA oxidase deficiency
ACTG1 Deafness, autosomal dominant 20
Baraitser-Winter syndrome 2
AIPL1 Leber congenital amaurosis 4
Retinitis pigmentosa, juvenile, AIPL1-related
Cone-rod dystrophy, AIPL1-related
ALOXE3 Ichthyosiform erythroderma, congenital, nonbullous, 1
AXIN2 Oligodontia-colorectal cancer syndrome
B9D1 Meckel syndrome 9
BRCA1 Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
BRIP1 Breast cancer
Fanconi anemia, complementation group J
CACNA1G Spinocerebellar ataxia 42
CARD14 Psoriasis 2
CBX2 46,XY sex reversal 5
CCDC137 Schizophrenia
CCDC40 Ciliary dyskinesia, primary, 15
CD79B Agammaglobulinemia 6
CHRNB1 Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
Myasthenic syndrome, slow-channel congenital, 2A
CNTNAP1 Lethal congenital contracture syndrome 7
COG1 Congenital disorder of glycosylation, type IIg
COL1A1 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type VII, autosomal dominant
COX10 Mitochondrial complex IV deficiency
Leigh syndrome
CTC1 Cerebroretinal microangiopathy with calcifications and cysts
CTNS Cystinosis
DCXR Pentosuria
DGKE Nephrotic syndrome, type 7
DNAI2 Ciliary dyskinesia, primary, 9
DPH1 Developmental delay with short stature, dysmorphic features, and sparse hair
ELAC2 Combined oxidative phosphorylation deficiency 17
ENO3 Glycogen storage disease XIII
EPX Eosinophil peroxidase deficiency
FAM20A Amelogenesis imperfecta, type IG (Enamel-renal syndrome)
FLCN Birt-Hogg-Dube syndrome
Pneumothorax, primary spontaneous
FOXN1 T-cell immunodeficiency, congenital alopecia, and nail dystrophy
FSCN2 Retinitis pigmentosa 30
GAA Glycogen storage disease II
GFAP Alexander disease
GOSR2 Epilepsy, progessive myoclonic 6
GPR179 Night blindness, congenital stationary, type 1E
GUCY2D Cone-rod dystrophy 6
Leber congenital amaurosis, type 1
Cone-Rod dystrophy, autosomal recessive
HES7 Spondylocostal dysostosis 4, autosomal recessive
HOXB1 Facial paresis, hereditary congenital, 3
ITGA2B Glanzmann thrombasthenia
ITGB3 Bleeding disorder, platelet-type, 16, autosomal dominant
Glanzmann thrombasthenia
Thrombocytopenia, neonatal alloimmune
ITGB4 Epidermolysis bullosa, junctional, with pyloric atresia
Epidermolysis bullosa, junctional, non-Herlitz type
Epidermolysis bullosa simplex, Weber-Cockayne type
JUP Arrhythmogenic right ventricular dysplasia, familial, 12
Naxos disease
KANSL1 Koolen-de Vries syndrom
KCNJ2 Atrial fibrillation, familial 9
Short QT syndrome 3
Andersen syndrome
Long QT syndrome 7
KIF1C Spastic ataxia 2, autosomal recessive
KLHL10 Spermatogenic failure 11
KRT10 Erythroderma, ichthyosiform, congenital reticular
Aaru disease
Ichthyosis, cyclic, with epidermolytic hyperkeratosis
Epidermolytic hyperkeratosis
Ichthyosis with confetti
KRT12 Meesmann corneal dystrophy
KRT13 White sponge nevus 2
KRT14 Epidermolysis bullosa simplex, autosomal recessive
Naegeli-Franceschetti-Jadassohn syndrome
Dermatopathia pigmentosa reticularis
Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex, Weber-Cockayne type
Epidermolysis bullosa simplex, Dowling-Meara type
KRT16 Palmoplantar keratoderma, nonepidermolytic, focal
Pachyonychia congenita 1
KRT25 Woolly hair, autosomal recessive 3
KRT9 Palmoplantar keratoderma, epidermolytic
Knuckle pads
MAPT Supranuclear palsy, progressive
Frontotemporal dementia
Parkinson-dementia sydnrome
Pick disease
MKS1 Meckel syndrome 1
Bardet-Biedl syndrome 13
MPO Myeloperoxidase deficiency
MYH2 Inclusion body myopathy 3
MYH3 Arthrogryposis, distal, type 2A
Arthyrgryposis, distal, type 2B
Arthrogryposis, distal, type 8
MYH8 Carney complex variant
Arthrogryposis, distal, type 7
Trismus-pseudocamptodactyly syndrome
MYO15A Deafness, autosomal recessive 3
NAGLU Mucopolysaccharidosis type IIIB (Sanfilippo syndrome B)
NF1 Neurofibromatosis type 1, Neurofibromatosis-Noonan syndrome
Watson syndrome
NLRP1 Corneal intraepithelial dyskeratosis and ectodermal dysplasia
PDE6G Retinitis pigmentosa 57
PGAP3 Hyperphosphatasia with mental retardation syndrome 4
PIK3R5 Ataxia-oculomotor apraxia 3
PITPNM3 Cone-rod dystrophy 5
PNPO Individuals may manifest with severe seizures starting in the immediate neonatal period (or even before birth), and medical treatment (with pyridoxine) can be effective as an antiepileptic agent
POLG2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
PRKAR1A Pigmented nodular adrenocortical disease, primary, 1
Carney complex, type 1
Myxoma, intracardiac
Acrodysostosis 1, with or without hormone resistance
PRPF8 Retinitis pigmentosa 13
PYCR1 Cutis laxa, autosomal recessive, type IIB
Cutis laxa, autosomal recessive type IIIB
RAD51D Ovarian cancer, familial, susceptibility to
RAI1 Smith-Magenis syndrome
RGS9 Bradyopsia
RHBDF2 Tylosis with esophageal cancer
RNF213 Moyamoya disease 2
SCN4A Paramyotonia congenita
Hyperkalemic periodic paralysis, type 2
Hypokalemic periodic paralysis, type 2
Normokalemic potassium-sensitive periodic paralysis
Malignant hyperthermia, susceptibility to
Myasthenic syndrome, congenital, 16
Myotonia, potassium-aggravated
SEPT9 Amyotrophy, hereditary neuralgic
SERPINF1 Osteogenesis imperfecta, type VI
SERPINF2 Alpha-2-plasmin inhibitor deficiency
SLC25A19 Thiamine metabolism dysfunction syndrome 4
Microcephaly, Amish type
SLC46A1 Folate malabsorption, hereditary
SLC4A1 Spherocytosis, type 4
Ovalcytosis, Southeast Asian
Cryohydrocytosis
Renal tubular acidosis, distal, with hemolytic anemia
Renal tubular acidosis, distal, autosomal dominant
Renal tubular acidosis, distal, autosomal recessive
Blood group, Wright
Blood group, Waldner
Blood group, Diego
Blood group, Froese
Blood group, Swann
SLC52A1 Maternal riboflavin deficiency
SLFN14 Bleeding disorder, platelet-type, 20
STRADA Polyhydramnios, megalencephaly, and symptomatic epilepsy
TCAP Cardiomyopathy, dilated, 1N
Cardiomyopathy, familial hypertrophic 25
Muscular dystrophy, limb-girdle, type 2G
TMC6 Epidermodysplasia verruciformis
TMC8 Epidermodysplasia verruciformis
TNFRSF13B Immunoglobulin A deficiency 2
Common variable immunodeficiency 2
TP53 Li-Fraumeni syndrome
Choroid plexus papilloma
Ependymoma, intracranial
Osteogenic sarcoma
Breast cancer, familial
Hepatoblastoma
Non-Hodgkin lymphoma
Adrenocortical carcinoma
Colorectal cancer
TRPV3 Olmsted syndrome
Palmoplantar keratoderma, nonepidermolytic focal 2
TSEN54 Pontocerebellar hypoplasia, type 2A
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 5
TTC19 Mitochondrial complex III deficiency, nuclear type 2
UNC13D Hemophagocytic lymphohistiocytosis, familial 3
VPS53 Pontocerebellar hypoplasia, type 2E
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
WNK4 Pseudohypoaldosteronism, type IIB
ZMYND15 Spermatogenic failure 14
ZNF750 Seborrhea-like dermatitis with psoriasiform elements

Genes at HGMD

Summary

Number of Variants: 3812
Number of Genes: 617

Export to: CSV

AATF
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 32 17 rs1045056
dbSNP Clinvar 		35346641 290.77 T C . 0/1 21 SYNONYMOUS_CODING LOW None 0.15675 0.15670 0.24273 None None None None None None AATF|0.980408321|1.45%

AATK
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 32 17 rs61738821
dbSNP Clinvar 		79096115 197.77 C T . 0/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.14177 0.14180 0.24 0.08 None None None None None None AATK|0.00450864|86.39%
View 32 17 rs7503604
dbSNP Clinvar 		79095629 356.77 C A . 0/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.55651 0.55650 0.46455 0.17 0.00 None None None None None None AATK|0.00450864|86.39%
View 32 17 rs8073904
dbSNP Clinvar 		79095144 648.77 G A . 1/1 19 SYNONYMOUS_CODING LOW None 0.80531 0.80530 0.14925 None None None None None None AATK|0.00450864|86.39%
View 32 17 rs36000545
dbSNP Clinvar 		79093822 631.77 A G . 1/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.35982 0.35980 0.27890 0.43 0.00 None None None None None None AATK|0.00450864|86.39%

ABCA10
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 32 17 rs11077414
dbSNP Clinvar 		67212031 695.77 A G . 0/1 68 SYNONYMOUS_CODING LOW None 0.06470 0.47140 0.42465 None None None None None None ABCA10|0.002179826|90.49%
View 32 17 rs137962621
dbSNP Clinvar 		67150465 624.73 C CA... . 0/1 23 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.11262 0.11260 0.10347 None None None None None None ABCA10|0.002179826|90.49%
View 32 17 rs11657804
dbSNP Clinvar 		67210992 25.78 T C LowQual 0/1 7 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.26158 0.26160 0.29885 0.30 0.12 None None None None None None ABCA10|0.002179826|90.49%
View 32 17 rs140723420,rs111599831
dbSNP Clinvar 		67190117 385.73 AAT A . 0/1 23 FRAME_SHIFT HIGH None 0.11582 0.11580 0.11248 None None None None None None ABCA10|0.002179826|90.49%
View 32 17 rs9909216
dbSNP Clinvar 		67212423 1277.77 G A . 1/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.58067 0.58070 0.34515 0.03 0.00 None None None None None None ABCA10|0.002179826|90.49%
View 32 17 rs12941264
dbSNP Clinvar 		67215712 907.77 C T . 1/1 30 SYNONYMOUS_CODING LOW None 0.59844 0.59840 0.32759 None None None None None None ABCA10|0.002179826|90.49%
View 32 17 rs4968849
dbSNP Clinvar 		67178316 508.77 A G . 1/1 17 NON_SYNONYMOUS_CODING MODERATE None 0.71126 0.71130 0.24304 1.00 0.00 None None None None None None ABCA10|0.002179826|90.49%

ABCA5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 32 17 rs57367176
dbSNP Clinvar 		67287358 123.77 A G . 0/1 16 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.03215 0.03215 0.02976 None None None None None None ABCA5|0.269145961|29.93%
View 32 17 rs75944132
dbSNP Clinvar 		67257812 325.77 T C . 0/1 18 SYNONYMOUS_CODING LOW None 0.02117 0.02117 0.01752 None None None None None None ABCA5|0.269145961|29.93%
View 32 17 rs12449649
dbSNP Clinvar 		67260926 104.77 A G . 0/1 7 SYNONYMOUS_CODING LOW None 0.37939 0.37940 0.39114 None None None None None None ABCA5|0.269145961|29.93%
View 32 17 rs536009
dbSNP Clinvar 		67273882 614.77 C A . 1/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.80172 0.80170 0.22177 0.62 0.00 None None None None None None ABCA5|0.269145961|29.93%

ABCA6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 32 17 rs2302134
dbSNP Clinvar 		67081830 393.77 T C . 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.45986 0.45990 0.48539 0.16 0.45 None None None None None None ABCA6|0.006278632|84.32%
View 32 17 rs9282553
dbSNP Clinvar 		67108362 388.77 C G . 0/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.20767 0.20770 0.17292 0.02 0.00 None None None None None None ABCA6|0.006278632|84.32%
View 32 17 rs2058128
dbSNP Clinvar 		67109493 195.77 A G . 0/1 18 SYNONYMOUS_CODING LOW None 0.12600 0.12600 0.12773 None None None None None None ABCA6|0.006278632|84.32%
View 32 17 rs4968839
dbSNP Clinvar 		67125840 378.77 C T . 1/1 13 NON_SYNONYMOUS_CODING MODERATE None 0.55511 0.55510 0.40099 0.35 0.00 None None None None None None ABCA6|0.006278632|84.32%

ABCA8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 32 17 rs28385895
dbSNP Clinvar 		66928470 607.77 C T . 0/1 63 SYNONYMOUS_CODING LOW None 0.07648 0.07648 None None None None None None ABCA8|0.008754907|81.9%
View 32 17 . 66890224 3.98 C A LowQual 0/1 8 None None None 0.51 0.99 None None None None None None ABCA8|0.008754907|81.9%
View 32 17 rs35621847
dbSNP Clinvar 		66924083 209.77 G A . 0/1 22 NON_SYNONYMOUS_CODING MODERATE None 0.03954 0.03954 0.04890 0.08 0.08 None None None None None None ABCA8|0.008754907|81.9%
View 32 17 rs8068987
dbSNP Clinvar 		66873743 460.77 G A . 0/1 46 SYNONYMOUS_CODING LOW None 0.15455 0.15460 0.14647 None None None None None None ABCA8|0.008754907|81.9%
View 32 17 rs16973446
dbSNP Clinvar 		66928460 706.77 T C . 0/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.07648 0.07648 0.08265 0.13 0.03 None None None None None None ABCA8|0.008754907|81.9%
View 32 17 rs1481
dbSNP Clinvar 		66872802 864.77 G C . 1/1 26 SYNONYMOUS_CODING LOW None 0.81350 0.81350 0.26980 None None None None None None ABCA8|0.008754907|81.9%
View 32 17 rs62638729
dbSNP Clinvar 		66928468 638.77 G C . 0/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.07588 0.07588 0.38 0.00 None None None None None None ABCA8|0.008754907|81.9%

ABCA9
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 32 17 rs2302291
dbSNP Clinvar 		67028260 504.77 T C . 0/1 34 SYNONYMOUS_CODING LOW None 0.40695 0.40690 0.47932 None None None None None None ABCA9|0.017284198|75.69%
View 32 17 rs16973534
dbSNP Clinvar 		67031882 866.77 A G . 0/1 67 SYNONYMOUS_CODING LOW None 0.02816 0.02815 0.03422 None None None None None None ABCA9|0.017284198|75.69%
View 32 17 rs570151793
dbSNP Clinvar 		66985996 616.73 TCTTC T . 0/1 23 FRAME_SHIFT HIGH None None None None None None None ABCA9|0.017284198|75.69%
View 32 17 rs2302294
dbSNP Clinvar 		66985992 336.77 T G . 0/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.41334 0.41330 0.48347 0.02 0.99 None None None None None None ABCA9|0.017284198|75.69%
View 32 17 rs1860447
dbSNP Clinvar 		67031457 1082.77 C T . 1/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.85783 0.85780 0.14363 0.90 0.00 None None None None None None ABCA9|0.017284198|75.69%

ABCC3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 32 17 rs2277624
dbSNP Clinvar 		48761105 674.77 C T . 0/1 39 SYNONYMOUS_CODING LOW None 0.28694 0.28690 0.26465 None None None None None None ABCC3|0.044769991|64.26%
View 32 17 rs1051640
dbSNP Clinvar 		48768486 1129.77 A G . 0/1 88 SYNONYMOUS_CODING LOW None 0.10403 0.10400 0.14639 None None None None None None ABCC3|0.044769991|64.26%
View 32 17 rs12604031
dbSNP Clinvar 		48712705 267.77 G A . 0/1 21 None None None 0.76378 0.76380 0.00 None None None None None None ABCC3|0.044769991|64.26%
View 32 17 rs9890046
dbSNP Clinvar 		48712711 243.77 C G . 0/1 22 None None None 0.87740 0.87740 0.00 None None None None None None ABCC3|0.044769991|64.26%

ABHD15
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 32 17 rs542939
dbSNP Clinvar 		27889986 218.77 T C . 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.76797 0.76800 0.30571 1.00 0.03 None None None None None None ABHD15|0.102676834|50.66%

ABI3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 32 17 rs616338
dbSNP Clinvar 		47297297 393.77 T C . 1/1 11 NON_SYNONYMOUS_CODING MODERATE None 0.99840 0.99840 0.00701 1.00 0.00 None None None None None None ABI3|0.032000436|68.63%

ABR
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 32 17 rs2262150
dbSNP Clinvar 		970413 441.77 C T . 1/1 15 SYNONYMOUS_CODING LOW None 0.89697 0.89700 0.13425 None None None None None None ABR|0.634601907|10.64%
View 32 17 rs9903778
dbSNP Clinvar 		934898 8.44 G A LowQual 0/1 6 None None None 0.08466 0.08466 None None None None None None ABR|0.634601907|10.64%

AC087645.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 32 17 rs2239680
dbSNP Clinvar 		76219783 47.74 T C . 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.21765 0.21770 0.00 0.50 None None None None None None BIRC5|0.935922721|2.64%

AC090616.2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 32 17 rs13342625
dbSNP Clinvar 		30469423 45.77 C A . 0/1 5 SYNONYMOUS_CODING LOW None 0.31510 0.31510 None None None None None None None

ACACA
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 32 17 rs58654829
dbSNP Clinvar 		35696804 139.77 G A . 0/1 15 SYNONYMOUS_CODING LOW None 0.58546 0.58550 0.34776 None None None None None None ACACA|0.94269074|2.39%
View 32 17 rs1470452
dbSNP Clinvar 		35478362 1911.77 T C . 1/1 60 SYNONYMOUS_CODING LOW None 1.00000 1.00000 0.00108 None None None None None None ACACA|0.94269074|2.39%

ACADVL
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 32 17 rs72839706
dbSNP Clinvar 		7121105 586.77 C A . 0/1 35 SYNONYMOUS_CODING LOW None 0.01438 0.01438 None None None None None None DLG4|0.305379094|27.2%,ACADVL|0.231050725|33.28%

ACAP1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 32 17 rs4796407
dbSNP Clinvar 		7245371 1089.77 A G . 1/1 31 SYNONYMOUS_CODING LOW None 0.31490 0.31490 0.40697 None None None None None None ACAP1|0.086299912|53.89%
View 32 17 rs3809828
dbSNP Clinvar 		7246851 380.77 C T . 0/1 26 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.05331 0.05331 0.04275 None None None None None None ACAP1|0.086299912|53.89%

ACE
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 32 17 rs4318
dbSNP Clinvar 		61562373 471.77 A G . 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.05691 0.05691 0.05358 0.04 0.01 None None None None None None ACE|0.894558224|3.56%
View 32 17 rs4298
dbSNP Clinvar 		61557200 1263.77 C T . 1/1 38 SYNONYMOUS_CODING LOW None 0.14437 0.14440 0.16331 None None None None None None ACE|0.894558224|3.56%
View 32 17 rs4303
dbSNP Clinvar 		61557823 1042.77 G T . 0/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.03055 0.03055 0.03206 0.21 0.81 None None None None None None ACE|0.894558224|3.56%
View 32 17 rs4317
dbSNP Clinvar 		61562322 487.77 T C . 0/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.05691 0.05691 0.05225 0.20 0.00 None None None None None None ACE|0.894558224|3.56%
View 32 17 rs4343
dbSNP Clinvar 		61566031 1730.77 G A . 1/1 55 SYNONYMOUS_CODING LOW None 0.64317 0.64320 0.43987 None None None None None None ACE|0.894558224|3.56%
View 32 17 rs4976
dbSNP Clinvar 		61570937 963.77 T C . 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.00140 0.00140 0.00115 0.00 0.98 None None None None None None ACE|0.894558224|3.56%
View 32 17 rs4362
dbSNP Clinvar 		61573761 2145.77 T C . 1/1 68 SYNONYMOUS_CODING LOW None 0.58746 0.58750 0.49470 None None None None None None ACE|0.894558224|3.56%
View 32 17 rs376216920
dbSNP Clinvar 		61574195 233.77 G A . 0/1 24 SYNONYMOUS_CODING LOW None 0.00015 None None None None None None ACE|0.894558224|3.56%
View 32 17 rs4459610
dbSNP Clinvar 		61584720 9.1 A T LowQual 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.45268 0.45270 0.00 None None None None None None ACE|0.894558224|3.56%

ACLY
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 32 17 rs8065502
dbSNP Clinvar 		40048613 2442.77 A G . 1/1 74 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.90435 0.90440 0.12479 None None None None None None ACLY|0.44685425|18.3%

ACOX1
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 32 17 rs8065946
dbSNP Clinvar 		73945957 1442.77 A G . 0/1 100 SYNONYMOUS_CODING LOW None 0.07169 0.07169 0.07158 None None None None None None ACOX1|0.181440529|38.86%

ACTG1
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 32 17 rs1139405
dbSNP Clinvar 		79478019 1639.77 G A . 1/1 48 SYNONYMOUS_CODING LOW None 0.75619 0.75620 0.24543 None None None None None None ACTG1|0.983116739|1.38%
View 32 17 rs147032031
dbSNP Clinvar 		79479094 1124.77 G A . 0/1 69 SYNONYMOUS_CODING LOW None 0.00008 None None None None None None ACTG1|0.983116739|1.38%

ADAM11
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 32 17 rs1558083
dbSNP Clinvar 		42852604 368.77 G T . 0/1 30 SYNONYMOUS_CODING LOW None 0.64557 0.64560 0.41950 None None None None None None ADAM11|0.131633893|45.66%
View 32 17 rs35936481
dbSNP Clinvar 		42851729 28.77 C T LowQual 0/1 6 SYNONYMOUS_CODING LOW None 0.64557 0.64560 0.40983 None None None None None None ADAM11|0.131633893|45.66%
View 32 17 rs2070605
dbSNP Clinvar 		42855554 337.77 T C . 0/1 20 SYNONYMOUS_CODING LOW None 0.64537 0.64540 0.41996 None None None None None None ADAM11|0.131633893|45.66%
View 32 17 rs8075210
dbSNP Clinvar 		42854610 313.77 T C . 0/1 16 SYNONYMOUS_CODING LOW None 0.64537 0.64540 0.41973 None None None None None None ADAM11|0.131633893|45.66%
View 32 17 rs1558084
dbSNP Clinvar 		42852610 979.77 T C . 1/1 31 SYNONYMOUS_CODING LOW None 0.90495 0.90500 0.10518 None None None None None None ADAM11|0.131633893|45.66%

ADORA2B
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 32 17 rs71666343,rs3064500,rs35103635
dbSNP Clinvar 		15878109 1869.73 CCAA C . 1/1 39 CODON_DELETION MODERATE None 0.06130 0.06130 0.04378 None None None None None None ADORA2B|0.218617253|34.53%

AIPL1
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 32 17 rs8075035
dbSNP Clinvar 		6331803 1084.77 T C . 1/1 35 SYNONYMOUS_CODING LOW None 0.57588 0.57590 0.39474 None None None None None None AIPL1|0.064852727|58.69%
View 32 17 rs2292546
dbSNP Clinvar 		6330068 1833.77 T C . 1/1 57 SYNONYMOUS_CODING LOW None 0.71366 0.71370 0.26134 None None None None None None AIPL1|0.064852727|58.69%

AKAP1
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 32 17 rs2230772
dbSNP Clinvar 		55183203 1374.77 T C . 1/1 44 SYNONYMOUS_CODING LOW None 0.47824 0.47820 0.39136 None None None None None None AKAP1|0.039700237|65.85%
View 32 17 rs1050515
dbSNP Clinvar 		55183716 831.77 T C . 1/1 24 SYNONYMOUS_CODING LOW None 0.59066 0.59070 0.45917 None None None None None None AKAP1|0.039700237|65.85%

AKAP10
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 32 17 rs203462
dbSNP Clinvar 		19812541 529.77 T C . 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.39397 0.39400 0.45041 1.00 0.00 None None None None None None AKAP10|0.479048269|16.82%
View 32 17 rs2108978
dbSNP Clinvar 		19861458 941.77 C T . 0/1 81 NON_SYNONYMOUS_CODING MODERATE None 0.38958 0.38960 0.44495 0.74 0.00 None None None None None None AKAP10|0.479048269|16.82%

ALDH3A1
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 32 17 rs887241
dbSNP Clinvar 		19645938 460.77 A C . 0/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.74461 0.74460 0.34669 0.88 0.00 None None None None None None ALDH3A1|0.032163878|68.52%
View 32 17 rs59102760
dbSNP Clinvar 		19646750 775.77 C T . 0/1 55 SYNONYMOUS_CODING LOW None 0.01158 0.01158 0.01976 None None None None None None ALDH3A1|0.032163878|68.52%
View 32 17 rs2228100
dbSNP Clinvar 		19642952 231.77 G C . 0/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.37999 0.38000 0.32239 0.17 0.00 None None None None None None ALDH3A1|0.032163878|68.52%

ALKBH5
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 32 17 rs11078411
dbSNP Clinvar 		18088094 536.77 C T . 0/1 41 SYNONYMOUS_CODING LOW None 0.17951 0.17950 0.23006 None None None None None None ALKBH5|0.283250077|28.87%

ALOX12
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 32 17 rs312462
dbSNP Clinvar 		6913652 1255.77 G A . 0/1 75 SYNONYMOUS_CODING LOW None 0.11921 0.11920 0.08873 None None None None None None ALOX12|0.072773622|56.83%
View 32 17 rs1042356
dbSNP Clinvar 		6902743 352.77 G A . 0/1 25 SYNONYMOUS_CODING LOW None 0.60184 0.60180 0.39466 None None None None None None ALOX12|0.072773622|56.83%
View 32 17 rs312467
dbSNP Clinvar 		6899559 112.03 C G . 1/1 4 SYNONYMOUS_CODING LOW None 0.00140 0.94930 None None None None None None ALOX12|0.072773622|56.83%
View 32 17 rs1126667
dbSNP Clinvar 		6902760 312.77 A G . 0/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.60403 0.60400 0.39190 0.40 0.01 None None None None None None ALOX12|0.072773622|56.83%
View 32 17 rs434473
dbSNP Clinvar 		6904934 898.77 A G . 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.34125 0.34130 0.34507 0.81 0.00 None None None None None None ALOX12|0.072773622|56.83%
View 32 17 rs1042357
dbSNP Clinvar 		6905061 250.77 T G . 0/1 32 SYNONYMOUS_CODING LOW None 0.57228 0.57230 0.42734 None None None None None None ALOX12|0.072773622|56.83%

ALOX15B
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 32 17 rs6503070
dbSNP Clinvar 		7948175 700.77 C T . 1/1 21 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.59724 0.59720 0.44572 None None None None None None ALOX15B|0.008183706|82.49%
View 32 17 rs11541083
dbSNP Clinvar 		7950377 668.77 C T . 1/1 22 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.24840 0.24840 0.26411 None None None None None None ALOX15B|0.008183706|82.49%
View 32 17 rs9898751
dbSNP Clinvar 		7950952 337.78 C A . 1/1 12 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.44748 0.44750 0.44649 None None None None None None ALOX15B|0.008183706|82.49%
View 32 17 rs4792147
dbSNP Clinvar 		7951819 909.77 A G . 1/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.65036 0.65040 0.39520 0.46 0.00 None None None None None None ALOX15B|0.008183706|82.49%

ALOXE3
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 32 17 rs3027232
dbSNP Clinvar 		8022065 681.77 G A . 0/1 47 None None None 0.37400 0.37400 0.00 0.00 None None None None None None ALOXE3|0.073088496|56.77%
View 32 17 rs3809881
dbSNP Clinvar 		7999957 602.77 G A . 0/1 47 SYNONYMOUS_CODING LOW None 0.42472 0.42470 0.36845 None None None None None None ALOXE3|0.073088496|56.77%
View 32 17 . 8013422 180.77 G T . 0/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None ALOXE3|0.073088496|56.77%

AMZ2
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 32 17 rs113287202
dbSNP Clinvar 		66253019 401.77 A G . 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.01218 0.01218 0.01430 0.94 0.00 None None None None None None AMZ2|0.012004494|79.24%
View 32 17 rs3213690
dbSNP Clinvar 		66246416 687.77 A G . 1/1 22 NON_SYNONYMOUS_CODING MODERATE None 0.79792 0.79790 0.24127 1.00 0.00 None None None None None None AMZ2|0.012004494|79.24%

ANKFN1
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 32 17 rs8069322
dbSNP Clinvar 		54450134 304.77 G A . 0/1 25 SYNONYMOUS_CODING LOW None 0.67232 0.67230 0.39474 None None None None None None ANKFN1|0.698610051|8.53%
View 32 17 rs61753934
dbSNP Clinvar 		54576402 356.77 G C . 0/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.03335 0.03335 0.00 1.00 None None None None None None ANKFN1|0.698610051|8.53%
View 32 17 rs10852985
dbSNP Clinvar 		54534634 105.77 G A . 0/1 10 NON_SYNONYMOUS_CODING MODERATE None 0.75160 0.75160 0.30403 0.16 0.08 None None None None None None ANKFN1|0.698610051|8.53%
View 32 17 rs9902114
dbSNP Clinvar 		54431364 677.77 T C . 0/1 46 SYNONYMOUS_CODING LOW None 0.07109 0.07109 0.07128 None None None None None None ANKFN1|0.698610051|8.53%

ANKFY1
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 32 17 rs2020118
dbSNP Clinvar 		4088291 737.77 C T . 1/1 22 SYNONYMOUS_CODING LOW None 0.77436 0.77440 0.20761 None None None None None None CYB5D2|0.023633765|72.36%,ANKFY1|0.171100968|40.16%

AP2B1
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 32 17 rs1049379
dbSNP Clinvar 		33998802 162.9 G C . 1/1 5 SYNONYMOUS_CODING LOW None 0.47105 0.47100 0.49354 None None None None None None AP2B1|0.759088782|6.87%

APOH
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 32 17 rs4581
dbSNP Clinvar 		64210757 353.77 C A . 0/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.54153 0.54150 0.32969 0.69 0.00 None None None None None None APOH|0.076233012|56.02%
View 32 17 . 64222189 415.77 T A . 0/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.63 0.00 None None None None None None APOH|0.076233012|56.02%

APPBP2
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 32 17 rs7212360
dbSNP Clinvar 		58529401 249.8 A G . 1/1 9 SYNONYMOUS_CODING LOW None 0.06410 0.06410 0.06267 None None None None None None APPBP2|0.653501332|9.96%