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+ Genes 546

Genes:
AATF, ABCA10, ABCA5, ABCA6, ABCA8, ABCA9, ABCC3, ABHD15, ABI3, ABR, ACACA, ACAP1, ACE, ACLY, ACOX1, ACSF2, ACTG1, ADAM11, ADPRM, AIPL1, AKAP1, ALDH3A1, ALDH3A2, ALOX12, ALOX15B, ALOXE3, AMZ2, ANKFN1, ANKFY1, AP2B1, APOH, ARHGAP23, ARHGAP27, ARHGEF15, ARRB2, ARSG, ASB16, ASGR2, ASPSCR1, ATAD5, ATP1B2, ATP2A3, AURKB, AXIN2, AZI1, B4GALNT2, B9D1, BAIAP2, BCAS3, BCL6B, BIRC5, BRIP1, BZRAP1, C17orf102, C17orf47, C17orf49, C17orf53, C17orf58, C17orf59, C17orf70, C17orf72, C17orf74, C17orf77, C17orf78, C17orf80, C17orf82, C17orf96, C17orf97, C17orf99, C1QTNF1, CA10, CA4, CACNA1G, CACNG5, CALCOCO2, CAMKK1, CANT1, CARD14, CASKIN2, CBX2, CBX8, CCDC137, CCDC144NL, CCDC40, CCDC57, CCL15, CCL2, CCL23, CCL4, CCR7, CCT6B, CD300A, CD300E, CD300LB, CD300LF, CD300LG, CD79B, CDC6, CDR2L, CDRT1, CDRT15, CDRT4, CEP112, CHAD, CLDN7, CLUH, CNP, CNTNAP1, CNTROB, COASY, COG1, COIL, COL1A1, COPRS, CRK, CSF3, CSNK1D, CTB-96E2.2, CTC1, CTDNEP1, CTNS, CXCL16, CYB5D1, DCAF7, DDX52, DGKE, DHRS13, DHX33, DLX3, DNAH17, DNAH2, DNAH9, DNAI2, DOC2B, DPH1, DVL2, EFCAB13, EFCAB5, EIF4A1, EIF4A3, ELAC2, ELP5, EME1, ENDOV, ENGASE, ENPP7, ENTHD2, EPN2, EPN3, EPX, ERBB2, ERN1, EVI2A, EVPL, EXOC7, FAM104A, FAM20A, FAM83G, FASN, FBXO47, FBXW10, FMNL1, FN3K, FN3KRP, FNDC8, FOXK2, FOXN1, FTSJ3, GAA, GALR2, GAS2L2, GAST, GEMIN4, GFAP, GGNBP2, GGT6, GIP, GIT1, GLP2R, GLTPD2, GOSR2, GPR142, GRB7, GRIN2C, GSDMA, GSDMB, HAP1, HDAC5, HELZ, HES7, HEXDC, HID1, HIGD1B, HNF1B, HOXB1, HOXB3, HOXB5, HOXB7, HSD17B1, HSF5, ICAM2, ICT1, IFI35, IFT20, IKZF3, INPP5K, INTS2, ITGA2B, ITGA3, ITGAE, ITGB3, ITGB4, JUP, KANSL1, KAT7, KCNH4, KCNH6, KCNJ12, KCNJ16, KDM6B, KIAA0100, KIAA0195, KIAA0753, KIF18B, KIF19, KIF2B, KLHL10, KLHL11, KPNA2, KPNB1, KRT10, KRT13, KRT14, KRT15, KRT16, KRT17, KRT19, KRT23, KRT24, KRT27, KRT28, KRT32, KRT33A, KRT33B, KRT34, KRT35, KRT36, KRT37, KRT38, KRT39, KRT40, KRT9, KRTAP1-1, KRTAP16-1, KRTAP3-3, KRTAP4-1, KRTAP4-11, KRTAP4-2, KRTAP9-1, KRTAP9-2, KRTAP9-3, KRTAP9-4, KRTAP9-8, KSR1, LASP1, LGALS3BP, LGALS9, LLGL1, LLGL2, LPO, LRRC37A2, LRRC37B, LRRC48, LSM12, LSMD1, MAP2K3, MAP2K6, MARCH10, MED13, MED24, MFSD6L, MGAT5B, MIEF2, MINK1, MLLT6, MLX, MMP28, MPP2, MPP3, MPRIP, MRC2, MRPS23, MRPS7, MSI2, MTMR4, MYBBP1A, MYCBPAP, MYH1, MYH10, MYH13, MYH2, MYH3, MYH4, MYH8, MYO15A, MYO18A, MYO19, MYO1C, NACA2, NAGLU, NAT9, NEK8, NF1, NFE2L1, NLE1, NLGN2, NLRP1, NMT1, NOS2, NPLOC4, NPTX1, NSRP1, NT5C, NT5C3B, NT5M, NUP85, NUP88, ODF4, OGFOD3, OR1A1, OR1A2, OR1D2, OR1D5, OR1E2, OR3A2, OR4D1, OR4D2, OSBPL7, OTOP2, OTOP3, PCGF2, PCTP, PDE6G, PDK2, PEMT, PER1, PGAP3, PGS1, PIK3R5, PIK3R6, PIP4K2B, PITPNM3, PLCD3, PLD2, PLXDC1, PNPO, POLR2A, PPM1E, PPP1R9B, PRKCA, PSMB6, PSMC3IP, PSMC5, PSMD3, PTGES3L-AARSD1, PYCR1, PYY, QRICH2, RAB11FIP4, RABEP1, RAI1, RAP1GAP2, RBFOX3, RECQL5, RHBDF2, RHBDL3, RHOT1, RNF135, RNF157, RNF213, RNF222, RNF43, RNFT1, RP11-1055B8.7, RPA1, RPRML, RPTOR, RSAD1, RTN4RL1, RUNDC1, SARM1, SAT2, SCARF1, SCIMP, SCN4A, SCRN2, SDK2, SEC14L1, SENP3, SEPT4, SEPT9, SERPINF1, SERPINF2, SEZ6, SGSH, SGSM2, SHPK, SIRT7, SKAP1, SLC13A2, SLC13A5, SLC16A13, SLC16A3, SLC16A5, SLC16A6, SLC25A10, SLC25A19, SLC2A4, SLC35G6, SLC38A10, SLC39A11, SLC43A2, SLC46A1, SLC47A2, SLC52A1, SLC5A10, SLC9A3R1, SLFN11, SLFN12, SLFN12L, SLFN13, SLFN14, SMCR8, SMG6, SMG8, SMTNL2, SMYD4, SNF8, SOCS7, SOX9, SP2, SPATA20, SPATA22, SPATA32, SPECC1, SPHK1, SPNS2, SPNS3, SPOP, SPPL2C, SRCIN1, SREBF1, SRP68, SRSF2, STARD3, STAT5A, STX8, STXBP4, SUPT6H, SYNGR2, SYNRG, TADA2A, TANC2, TAOK1, TAX1BP3, TBC1D16, TBC1D26, TBC1D28, TBCD, TBX2, TBX4, TCAP, TEKT1, TEKT3, TEX14, TEX2, TIMP2, TK1, TLCD1, TLCD2, TLK2, TM4SF5, TMC6, TMEM104, TMEM235, TMEM256-PLSCR3, TMEM92, TMEM99, TNFRSF13B, TNFSF12, TNFSF12-TNFSF13, TNK1, TNRC6C, TNS4, TOB1, TOM1L2, TP53, TRAF4, TRIM25, TRIM37, TRPV1, TRPV2, TRPV3, TSEN54, TSPAN10, TSR1, TTC19, TTLL6, TTYH2, TUBD1, TUBG2, TUSC5, TVP23C, UBE2O, UBE2Z, UBTF, ULK2, UNC45B, UNK, USP22, USP36, USP43, USP6, UTP18, VMO1, VPS53, VTN, WDR16, WDR81, WFIKKN2, WIPI1, WNT9B, WRAP53, WSB1, WSCD1, XYLT2, ZACN, ZFP3, ZNF286A, ZNF287, ZNF594, ZNF652, ZNF750, ZNF830, ZPBP2, ZZEF1,

+ Genes associated with diseases 116

Genes at Omim

ABCA5, ACACA, ACE, ACOX1, ACTG1, AIPL1, ALDH3A2, ALOXE3, ARSG, ASPSCR1, AXIN2, B9D1, BRIP1, CA4, CACNA1G, CANT1, CARD14, CBX2, CCDC40, CCL2, CD79B, CDC6, CNTNAP1, COASY, COG1, COL1A1, CSNK1D, CTC1, CTNS, DGKE, DLX3, DNAH9, DNAI2, DPH1, ELAC2, EPX, ERBB2, FAM20A, FOXN1, GAA, GEMIN4, GFAP, GOSR2, HES7, HNF1B, HOXB1, INPP5K, ITGA2B, ITGA3, ITGB3, ITGB4, JUP, KANSL1, KIAA0753, KLHL10, KRT10, KRT13, KRT14, KRT16, KRT17, KRT9, MRPS7, MYH2, MYH3, MYH8, MYO15A, NAGLU, NEK8, NF1, NLRP1, NUP85, PDE6G, PGAP3, PIK3R5, PITPNM3, PNPO, PRKCA, PSMC3IP, PYCR1, QRICH2, RAI1, RHBDF2, RNF213, RNF43, SCN4A, SEPT9, SERPINF1, SGSH, SHPK, SLC13A5, SLC25A19, SLC46A1, SLC52A1, SLC9A3R1, SLFN14, SOX9, TBCD, TBX2, TBX4, TCAP, TEX14, TLK2, TMC6, TNFRSF13B, TP53, TRIM37, TRPV3, TSEN54, TTC19, UBTF, UNC45B, VPS53, WDR81, WRAP53, XYLT2, ZNF750,
ABCA5 ?Hypertrichosis, congenital generalized, with gingival hyperplasia, 135400 (3)
ACACA Acetyl-CoA carboxylase deficiency, 613933 (1)
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)
ALDH3A2 Sjogren-Larsson syndrome, 270200 (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)
BRIP1 Fanconi anemia, complementation group J, 609054 (3)
{Breast cancer, early-onset, susceptibility to}, 114480 (3)
CA4 Retinitis pigmentosa 17, 600852 (3)
CACNA1G Spinocerebellar ataxia 42, 616795 (3)
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087 (3)
CANT1 Desbuquois dysplasia 1, 251450 (3)
Epiphyseal dysplasia, multiple, 7, 617719 (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)
CDC6 ?Meier-Gorlin syndrome 5, 613805 (3)
CNTNAP1 Hypomyelinating neuropathy, congenital, 3, 618186 (3)
Lethal congenital contracture syndrome 7, 616286 (3)
COASY Neurodegeneration with brain iron accumulation 6, 615643 (3)
Pontocerebellar hypoplasia, type 12, 618266 (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)
CSNK1D Advanced sleep-phase syndrome, familial, 2, 615224 (3)
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)
DGKE {Hemolytic uremic syndrome, atypical, susceptibility to, 7}, 615008 (3)
Nephrotic syndrome, type 7, 615008 (3)
DLX3 Amelogenesis imperfecta, type IV, 104510 (3)
Trichodontoosseous syndrome, 190320 (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)
EPX [Eosinophil peroxidase deficiency], 261500 (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)
FOXN1 T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (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)
HES7 Spondylocostal dysostosis 4, autosomal recessive, 613686 (3)
HNF1B Diabetes mellitus, noninsulin-dependent, 125853 (3)
{Renal cell carcinoma}, 144700 (3)
Renal cysts and diabetes syndrome, 137920 (3)
HOXB1 Facial paresis, hereditary congenital, 3, 614744 (3)
INPP5K Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 (3)
ITGA2B Glanzmann thrombasthenia, 273800 (3)
Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3)
Thrombocytopenia, neonatal alloimmune, BAK antigen related (3)
ITGA3 Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 (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)
KIAA0753 ?Orofaciodigital syndrome XV, 617127 (3)
KLHL10 Spermatogenic failure 11, 615081 (3)
KRT10 Ichthyosis with confetti, 609165 (3)
Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)
Epidermolytic hyperkeratosis, 113800 (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)
KRT17 Pachyonychia congenita 2, 167210 (3)
Steatocystoma multiplex, 184500 (3)
KRT9 Palmoplantar keratoderma, epidermolytic, 144200 (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)
NEK8 Renal-hepatic-pancreatic dysplasia 2, 615415 (3)
?Nephronophthisis 9, 613824 (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)
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)
PRKCA Pituitary tumor, invasive (3)
PSMC3IP Ovarian dysgenesis 3, 614324 (3)
PYCR1 Cutis laxa, autosomal recessive, type IIB, 612940 (3)
Cutis laxa, autosomal recessive, type IIIB, 614438 (3)
QRICH2 Spermatogenic failure 35, 618341 (3)
RAI1 Smith-Magenis syndrome, 182290 (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)
SGSH Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900 (3)
SHPK [Sedoheptulokinase deficiency], 617213 (3)
SLC13A5 Epileptic encephalopathy, early infantile, 25, 615905 (3)
SLC25A19 Microcephaly, Amish type, 607196 (3)
Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (3)
SLC46A1 Folate malabsorption, hereditary, 229050 (3)
SLC52A1 Riboflavin deficiency, 615026 (3)
SLC9A3R1 Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287 (3)
SLFN14 Bleeding disorder, platelet-type, 20, 616913 (3)
SOX9 Campomelic dysplasia with autosomal sex reversal, 114290 (3)
Campomelic dysplasia, 114290 (3)
Acampomelic campomelic dysplasia, 114290 (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)
TBX4 Ischiocoxopodopatellar syndrome, 147891 (3)
TCAP Cardiomyopathy, hypertrophic, 25, 607487 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 7, 601954 (3)
TEX14 ?Spermatogenic failure 23, 617707 (3)
TLK2 Mental retardation, autosomal dominant 57, 618050 (3)
TMC6 Epidermodysplasia verruciformis, 226400 (3)
TNFRSF13B Immunodeficiency, common variable, 2, 240500 (3)
Immunoglobulin A deficiency 2, 609529 (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)
TRIM37 Mulibrey nanism, 253250 (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)
UNC45B ?Cataract 43, 616279 (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)
WRAP53 Dyskeratosis congenita, autosomal recessive 3, 613988 (3)
XYLT2 {Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3)
Spondyloocular syndrome, 605822 (3)
ZNF750 Seborrhea-like dermatitis with psoriasiform elements, 610227 (3)

Genes at Clinical Genomics Database

ABCA5, ACE, ACOX1, ACTG1, AIPL1, ALDH3A2, ALOXE3, AXIN2, B9D1, BRIP1, CA4, CACNA1G, CANT1, CARD14, CBX2, CCDC137, CCDC40, CD79B, CDC6, CNTNAP1, COASY, COG1, COL1A1, CSNK1D, CTC1, CTNS, DGKE, DLX3, DNAI2, DPH1, EIF4A3, ELAC2, EPX, FAM20A, FOXN1, GAA, GFAP, GOSR2, HES7, HNF1B, HOXB1, ITGA2B, ITGA3, ITGB3, ITGB4, JUP, KANSL1, KLHL10, KRT10, KRT13, KRT14, KRT16, KRT17, KRT9, MYH2, MYH3, MYH8, MYO15A, NAGLU, NEK8, NF1, NLRP1, PDE6G, PGAP3, PIK3R5, PITPNM3, PNPO, PSMC3IP, PYCR1, RAI1, RHBDF2, RNF135, RNF213, SCN4A, SEPT9, SERPINF1, SERPINF2, SGSH, SLC13A5, SLC25A19, SLC46A1, SLC52A1, SLC9A3R1, SLFN14, SOX9, TBX4, TCAP, TMC6, TNFRSF13B, TP53, TRIM37, TRPV3, TSEN54, TTC19, UNC45B, VPS53, WDR81, WRAP53, ZNF750,
ABCA5 Hypertrichosis terminalis, generalized, with or without gingival hyperplasia
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
ALDH3A2 Sjogren-Larsson syndrome
ALOXE3 Ichthyosiform erythroderma, congenital, nonbullous, 1
AXIN2 Oligodontia-colorectal cancer syndrome
B9D1 Meckel syndrome 9
BRIP1 Breast cancer
Fanconi anemia, complementation group J
CA4 Retinitis pigmentosa 17
CACNA1G Spinocerebellar ataxia 42
CANT1 Desbuquois dysplasia 1
CARD14 Psoriasis 2
CBX2 46,XY sex reversal 5
CCDC137 Schizophrenia
CCDC40 Ciliary dyskinesia, primary, 15
CD79B Agammaglobulinemia 6
CDC6 Meier-Gorlin syndrome 5
CNTNAP1 Lethal congenital contracture syndrome 7
COASY Neurodegeneration with brain iron accumulation 6
COG1 Congenital disorder of glycosylation, type IIg
COL1A1 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type VII, autosomal dominant
CSNK1D Advanced sleep-phase syndrome, familial, 2
CTC1 Cerebroretinal microangiopathy with calcifications and cysts
CTNS Cystinosis
DGKE Nephrotic syndrome, type 7
DLX3 Trichodontoosseous syndrome
Amelogenesis imperfecta, type IV
DNAI2 Ciliary dyskinesia, primary, 9
DPH1 Developmental delay with short stature, dysmorphic features, and sparse hair
EIF4A3 Richieri-Costa-Pereira Syndrome
ELAC2 Combined oxidative phosphorylation deficiency 17
EPX Eosinophil peroxidase deficiency
FAM20A Amelogenesis imperfecta, type IG (Enamel-renal syndrome)
FOXN1 T-cell immunodeficiency, congenital alopecia, and nail dystrophy
GAA Glycogen storage disease II
GFAP Alexander disease
GOSR2 Epilepsy, progessive myoclonic 6
HES7 Spondylocostal dysostosis 4, autosomal recessive
HNF1B Renal cell carcinoma, nonpapillary chromophobe
HOXB1 Facial paresis, hereditary congenital, 3
ITGA2B Glanzmann thrombasthenia
ITGA3 Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
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
KLHL10 Spermatogenic failure 11
KRT10 Erythroderma, ichthyosiform, congenital reticular
Aaru disease
Ichthyosis, cyclic, with epidermolytic hyperkeratosis
Epidermolytic hyperkeratosis
Ichthyosis with confetti
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
KRT17 Steatocystoma multiplex
Pachyonychia congenita 2
KRT9 Palmoplantar keratoderma, epidermolytic
Knuckle pads
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)
NEK8 Nephronophthisis 9
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
PSMC3IP Ovarian dysgenesis 3
PYCR1 Cutis laxa, autosomal recessive, type IIB
Cutis laxa, autosomal recessive type IIIB
RAI1 Smith-Magenis syndrome
RHBDF2 Tylosis with esophageal cancer
RNF135 Macrocephaly, macrosomia, facial dysmorphism syndrome
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
SGSH Mucopolysaccharidosis type IIIA (Sanfilippo syndrome A)
SLC13A5 Epileptic encephalopathy, early infantile 25
SLC25A19 Thiamine metabolism dysfunction syndrome 4
Microcephaly, Amish type
SLC46A1 Folate malabsorption, hereditary
SLC52A1 Maternal riboflavin deficiency
SLC9A3R1 Nephrolithiasis/osteoporosis, hypophosphatemic, 2
SLFN14 Bleeding disorder, platelet-type, 20
SOX9 46, XY sex reversal 10
Campomelic dysplasia
TBX4 Small patella syndrome
TCAP Cardiomyopathy, dilated, 1N
Cardiomyopathy, familial hypertrophic 25
Muscular dystrophy, limb-girdle, type 2G
TMC6 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
TRIM37 Mulibrey nanism
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
UNC45B Cataract 43
VPS53 Pontocerebellar hypoplasia, type 2E
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
WRAP53 Dyskeratosis congenita, autosomal recessive 3
ZNF750 Seborrhea-like dermatitis with psoriasiform elements

Genes at HGMD

Summary

Number of Variants: 2363
Number of Genes: 546

Export to: CSV

AATF
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_820 17 rs1045056
dbSNP Clinvar 		35346641 178.271 T C PASS 0/1 82 SYNONYMOUS_CODING LOW None 0.15675 0.15670 0.24273 None None None None None None AATF|0.980408321|1.45%

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 sp16_820 17 rs4968849
dbSNP Clinvar 		67178316 69.5047 A G PASS 0/1 27 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%
View sp16_820 17 rs12941264
dbSNP Clinvar 		67215712 182.194 C T PASS 0/1 74 SYNONYMOUS_CODING LOW None 0.59844 0.59840 0.32759 None None None None None None ABCA10|0.002179826|90.49%
View sp16_820 17 rs9909216
dbSNP Clinvar 		67212423 341.597 G A PASS 0/1 93 NON_SYNONYMOUS_CODING MODERATE None 0.58067 0.58070 0.34515 0.03 0.03 None None None None None None ABCA10|0.002179826|90.49%
View sp16_820 17 rs11077414
dbSNP Clinvar 		67212031 147.534 A G PASS 0/1 67 SYNONYMOUS_CODING LOW None 0.06470 0.47140 0.42465 None None None None None None ABCA10|0.002179826|90.49%

ABCA5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_820 17 rs12449649
dbSNP Clinvar 		67260926 177.722 A G PASS 0/1 65 SYNONYMOUS_CODING LOW None 0.37939 0.37940 0.39114 None None None None None None ABCA5|0.269145961|29.93%
View sp16_820 17 rs536009
dbSNP Clinvar 		67273882 481.193 C A PASS 1/1 51 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%
View sp16_820 17 rs557491
dbSNP Clinvar 		67267317 134.153 T C PASS 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.49740 0.49740 0.45794 0.49 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 sp16_820 17 rs7212506
dbSNP Clinvar 		67101718 1579.77 C T PASS 1/1 165 NON_SYNONYMOUS_CODING MODERATE None 0.74780 0.74780 0.22058 0.42 0.00 None None None None None None ABCA6|0.006278632|84.32%
View sp16_820 17 rs2302134
dbSNP Clinvar 		67081830 346.382 T C PASS 0/1 92 NON_SYNONYMOUS_CODING MODERATE None 0.45986 0.45990 0.48539 0.16 0.05 None None None None None None ABCA6|0.006278632|84.32%
View sp16_820 17 rs4968839
dbSNP Clinvar 		67125840 300.709 C T PASS 0/1 191 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
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_820 17 rs1481
dbSNP Clinvar 		66872802 550.267 G C PASS 0/1 355 SYNONYMOUS_CODING LOW None 0.81350 0.81350 0.26980 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 sp16_820 17 rs1860447
dbSNP Clinvar 		67031457 689.98 C T PASS 1/1 73 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%
View sp16_820 17 rs2302294
dbSNP Clinvar 		66985992 243.468 T G PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.41334 0.41330 0.48347 0.02 0.46 None None None None None None ABCA9|0.017284198|75.69%
View sp16_820 17 rs2302291
dbSNP Clinvar 		67028260 1881.53 T C PASS 1/1 196 SYNONYMOUS_CODING LOW None 0.40695 0.40690 0.47932 None None None None None None ABCA9|0.017284198|75.69%

ABCC3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_820 17 rs11568605
dbSNP Clinvar 		48741080 285.238 C G PASS 0/1 107 NON_SYNONYMOUS_CODING MODERATE None 0.00240 0.05 0.78 None None None None None None ABCC3|0.044769991|64.26%

ABHD15
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 sp16_820 17 rs542939
dbSNP Clinvar 		27889986 814.69 T C PASS 1/1 90 NON_SYNONYMOUS_CODING MODERATE None 0.76797 0.76800 0.30571 1.00 0.00 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 sp16_820 17 rs616338
dbSNP Clinvar 		47297297 411.109 T C PASS 1/1 46 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_820 17 rs2262150
dbSNP Clinvar 		970413 593.002 C T PASS 1/1 62 SYNONYMOUS_CODING LOW None 0.89697 0.89700 0.13425 None None None None None None ABR|0.634601907|10.64%

ACACA
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 sp16_820 17 rs58654829
dbSNP Clinvar 		35696804 431.193 G A PASS 1/1 43 SYNONYMOUS_CODING LOW None 0.58546 0.58550 0.34776 None None None None None None ACACA|0.94269074|2.39%
View sp16_820 17 rs2229416
dbSNP Clinvar 		35609866 497.848 C T PASS 1/1 53 SYNONYMOUS_CODING LOW None 0.21985 0.21980 0.09726 None None None None None None ACACA|0.94269074|2.39%
View sp16_820 17 rs1470452
dbSNP Clinvar 		35478362 1516.16 T C PASS 1/1 160 SYNONYMOUS_CODING LOW None 1.00000 1.00000 0.00108 None None None None None None ACACA|0.94269074|2.39%

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 sp16_820 17 rs4796407
dbSNP Clinvar 		7245371 83.7023 A G PASS 0/1 25 SYNONYMOUS_CODING LOW None 0.31490 0.31490 0.40697 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 sp16_820 17 rs4331
dbSNP Clinvar 		61564052 564.852 A G PASS 1/1 62 SYNONYMOUS_CODING LOW None 0.52955 0.52960 0.44326 None None None None None None ACE|0.894558224|3.56%
View sp16_820 17 rs4343
dbSNP Clinvar 		61566031 1710.79 G A PASS 1/1 178 SYNONYMOUS_CODING LOW None 0.64317 0.64320 0.43987 None None None None None None ACE|0.894558224|3.56%
View sp16_820 17 rs4316
dbSNP Clinvar 		61562309 1366.54 C T PASS 1/1 172 SYNONYMOUS_CODING LOW None 0.51917 0.51920 0.42675 None None None None None None ACE|0.894558224|3.56%
View sp16_820 17 rs4362
dbSNP Clinvar 		61573761 471.949 T C PASS 1/1 49 SYNONYMOUS_CODING LOW None 0.58746 0.58750 0.49470 None None None None None None ACE|0.894558224|3.56%
View sp16_820 17 rs4309
dbSNP Clinvar 		61559923 506.679 C T PASS 1/1 56 SYNONYMOUS_CODING LOW None 0.42352 0.42350 0.33569 None None None None None None ACE|0.894558224|3.56%

ACLY
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 sp16_820 17 rs8065502
dbSNP Clinvar 		40048613 1446.23 A G PASS 1/1 147 SYNONYMOUS_CODING LOW 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
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 Alt
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_820 17 rs1135640
dbSNP Clinvar 		73949540 689.53 G C PASS 1/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.55072 0.55070 0.49131 0.17 0.00 None None None None None None ACOX1|0.181440529|38.86%

ACSF2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_820 17 rs2305998
dbSNP Clinvar 		48549791 78.3249 C G PASS 0/1 43 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.18570 0.18570 0.24427 None None None None None None ACSF2|0.036236332|67.04%
View sp16_820 17 rs201428015
dbSNP Clinvar 		48539869 131.458 C T PASS 0/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.00015 0.01 0.61 None None None None None None ACSF2|0.036236332|67.04%
View sp16_820 17 rs9674937
dbSNP Clinvar 		48539035 141.866 T C PASS 0/1 29 SYNONYMOUS_CODING LOW None 0.34405 0.34400 0.37667 None None None None None None ACSF2|0.036236332|67.04%

ACTG1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_820 17 rs1139405
dbSNP Clinvar 		79478019 1612.34 G A PASS 1/1 170 SYNONYMOUS_CODING LOW None 0.75619 0.75620 0.24543 None None None None None None ACTG1|0.983116739|1.38%
View sp16_820 17 rs146402466
dbSNP Clinvar 		79479127 67.3562 G A PASS 0/1 41 SYNONYMOUS_CODING LOW None 0.00020 0.00020 0.00008 None None None None None None ACTG1|0.983116739|1.38%

ADAM11
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 sp16_820 17 rs8075210
dbSNP Clinvar 		42854610 422.97 T C PASS 0/1 123 SYNONYMOUS_CODING LOW None 0.64537 0.64540 0.41973 None None None None None None ADAM11|0.131633893|45.66%
View sp16_820 17 rs2070605
dbSNP Clinvar 		42855554 188.492 T C PASS 0/1 52 SYNONYMOUS_CODING LOW None 0.64537 0.64540 0.41996 None None None None None None ADAM11|0.131633893|45.66%
View sp16_820 17 rs35936481
dbSNP Clinvar 		42851729 494.452 C T PASS 0/1 166 SYNONYMOUS_CODING LOW None 0.64557 0.64560 0.40983 None None None None None None ADAM11|0.131633893|45.66%
View sp16_820 17 rs1558083
dbSNP Clinvar 		42852604 65.5341 G T PASS 0/1 33 SYNONYMOUS_CODING LOW None 0.64557 0.64560 0.41950 -2.16 0.00 0.05606 T None None None None ADAM11|0.131633893|45.66%
View sp16_820 17 rs1558084
dbSNP Clinvar 		42852610 65.5276 T C PASS 0/1 33 SYNONYMOUS_CODING LOW None 0.90495 0.90500 0.10518 None None None None None None ADAM11|0.131633893|45.66%

ADPRM
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_820 17 rs406446
dbSNP Clinvar 		10614442 147.234 A G PASS 0/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.48722 0.48720 0.48770 0.09 0.02 None None None None None None ADPRM|0.084888375|54.22%,TMEM220|0.046283396|63.81%

AIPL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_820 17 rs8075035
dbSNP Clinvar 		6331803 200.656 T C PASS 0/1 106 SYNONYMOUS_CODING LOW None 0.57588 0.57590 0.39474 None None None None None None AIPL1|0.064852727|58.69%
View sp16_820 17 rs2292546
dbSNP Clinvar 		6330068 64.4743 T C PASS 0/1 21 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
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_820 17 rs61751974
dbSNP Clinvar 		55191888 80.6188 C T PASS 0/1 41 SYNONYMOUS_CODING LOW None 0.00899 0.00899 0.00584 None None None None None None AKAP1|0.039700237|65.85%
View sp16_820 17 rs1050515
dbSNP Clinvar 		55183716 379.213 T C PASS 0/1 191 SYNONYMOUS_CODING LOW None 0.59066 0.59070 0.45917 None None None None None None AKAP1|0.039700237|65.85%
View sp16_820 17 rs2230772
dbSNP Clinvar 		55183203 215.265 T C PASS 0/1 86 SYNONYMOUS_CODING LOW None 0.47824 0.47820 0.39136 None None None None None None AKAP1|0.039700237|65.85%

ALDH3A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_820 17 rs2228100
dbSNP Clinvar 		19642952 182.433 G C PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.37999 0.38000 0.32239 0.17 0.01 None None None None None None ALDH3A1|0.032163878|68.52%
View sp16_820 17 rs887241
dbSNP Clinvar 		19645938 568.24 A C PASS 1/1 59 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 sp16_820 17 rs2072330
dbSNP Clinvar 		19644472 274.008 A T PASS 0/1 108 SYNONYMOUS_CODING LOW None 0.29074 0.29070 0.30186 None None None None None None ALDH3A1|0.032163878|68.52%

ALDH3A2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_820 17 rs7216
dbSNP Clinvar 		19578873 100.051 A T PASS 0/1 42 SPLICE_SITE_REGION LOW None 0.67851 0.67850 0.44933 None None None None None None ALDH3A2|0.089181599|53.41%

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 sp16_820 17 rs1126667
dbSNP Clinvar 		6902760 188.41 A G PASS 0/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.60403 0.60400 0.39190 0.40 0.00 None None None None None None ALOX12|0.072773622|56.83%
View sp16_820 17 rs1042356
dbSNP Clinvar 		6902743 166.244 G A PASS 0/1 50 SYNONYMOUS_CODING LOW None 0.60184 0.60180 0.39466 None None None None None None ALOX12|0.072773622|56.83%
View sp16_820 17 rs312467
dbSNP Clinvar 		6899559 210.554 C G PASS 1/1 23 SYNONYMOUS_CODING LOW None 0.00140 0.94930 None None None None None None ALOX12|0.072773622|56.83%
View sp16_820 17 rs1042357
dbSNP Clinvar 		6905061 446.545 T G PASS 0/1 212 SYNONYMOUS_CODING LOW None 0.57228 0.57230 0.42734 None None None None None None ALOX12|0.072773622|56.83%
View sp16_820 17 rs434473
dbSNP Clinvar 		6904934 222.74 A G PASS 0/1 85 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 sp16_820 17 rs312462
dbSNP Clinvar 		6913652 239.586 G A PASS 0/1 130 SYNONYMOUS_CODING LOW None 0.11921 0.11920 0.08873 None None None None None None ALOX12|0.072773622|56.83%

ALOX15B
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 sp16_820 17 rs9895916
dbSNP Clinvar 		7950394 352.117 G A PASS 0/1 153 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.11701 0.11700 0.08119 0.12 0.01 None None None None None None ALOX15B|0.008183706|82.49%
View sp16_820 17 rs6503070
dbSNP Clinvar 		7948175 19.8964 C T PASS 0/1 11 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.59724 0.59720 0.44572 6.72 0.02 0.40915 T None None None None ALOX15B|0.008183706|82.49%
View sp16_820 17 rs76589243
dbSNP Clinvar 		7942901 185.152 C G PASS 0/1 56 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.26358 0.26360 0.22180 None None None None None None ALOX15B|0.008183706|82.49%
View sp16_820 17 rs4792147
dbSNP Clinvar 		7951819 280.761 A G PASS 0/1 76 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_820 17 rs3027232
dbSNP Clinvar 		8022065 627.695 G A PASS 1/1 66 None None None 0.37400 0.37400 0.00 0.00 None None None None None None ALOXE3|0.073088496|56.77%

AMZ2
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 sp16_820 17 rs7105
dbSNP Clinvar 		66253095 1656.46 T A PASS 1/1 185 SYNONYMOUS_CODING LOW None 0.37061 0.37060 0.31332 None None None None None None AMZ2|0.012004494|79.24%
View sp16_820 17 rs3213690
dbSNP Clinvar 		66246416 1289.45 A G PASS 1/1 135 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_820 17 rs10852985
dbSNP Clinvar 		54534634 820.095 G A PASS 1/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.75160 0.75160 0.30403 0.16 0.46 None None None None None None ANKFN1|0.698610051|8.53%
View sp16_820 17 rs8069322
dbSNP Clinvar 		54450134 627.703 G A PASS 1/1 66 SYNONYMOUS_CODING LOW None 0.67232 0.67230 0.39474 None None None None None None ANKFN1|0.698610051|8.53%
View sp16_820 17 rs957724
dbSNP Clinvar 		54450038 671.276 C A PASS 1/1 70 SYNONYMOUS_CODING LOW None 0.61562 0.61560 0.46432 None None None None None None ANKFN1|0.698610051|8.53%

ANKFY1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_820 17 rs2020118
dbSNP Clinvar 		4088291 1036.92 C T PASS 1/1 108 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
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_820 17 rs1049379
dbSNP Clinvar 		33998802 1167.73 G C PASS 1/1 121 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
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_820 17 rs4581
dbSNP Clinvar 		64210757 96.6781 C A PASS 0/1 54 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%

ARHGAP23
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_820 17 rs7405920
dbSNP Clinvar 		36635721 231.766 C T PASS 1/1 25 SYNONYMOUS_CODING LOW None 0.95687 0.95690 0.05105 None None None None None None ARHGAP23|0.124657713|46.71%
View sp16_820 17 rs9891156
dbSNP Clinvar 		36646386 968.572 A G PASS 1/1 102 SYNONYMOUS_CODING LOW None 0.99082 0.99080 0.02015 None None None None None None ARHGAP23|0.124657713|46.71%

ARHGAP27
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 sp16_820 17 rs2959953
dbSNP Clinvar 		43507008 110.755 G C PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.61961 0.61960 0.27764 1.00 0.00 None None None None None None ARHGAP27|0.041158202|65.39%

ARHGEF15
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 sp16_820 17 rs871841
dbSNP Clinvar 		8216468 1216.4 T C PASS 1/1 125 NON_SYNONYMOUS_CODING MODERATE None 0.62101 0.62100 0.43657 1.00 0.00 None None None None None None ARHGEF15|0.03636471|66.99%
View sp16_820 17 rs3744647
dbSNP Clinvar 		8224276 1546.4 T C PASS 1/1 160 NON_SYNONYMOUS_CODING MODERATE None 0.57788 0.57790 0.35699 1.00 0.00 None None None None None None ARHGEF15|0.03636471|66.99%
View sp16_820 17 rs79993581
dbSNP Clinvar 		8222870 104.686 C T PASS 0/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.02057 0.02057 0.02322 0.01 0.00 None None None None None None ARHGEF15|0.03636471|66.99%
View sp16_820 17 rs3744651
dbSNP Clinvar 		8215534 75.0901 C T PASS 0/1 29 SYNONYMOUS_CODING LOW None 0.41693 0.41690 0.34769 None None None None None None ARHGEF15|0.03636471|66.99%

ARRB2
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 sp16_820 17 rs1045280
dbSNP Clinvar 		4622638 1155.03 C T PASS 1/1 124 SYNONYMOUS_CODING LOW None 0.66953 0.66950 0.40051 None None None None None None ARRB2|0.726219786|7.8%

ARSG
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_820 17 rs1558877
dbSNP Clinvar 		66364749 230.186 T C PASS 0/1 111 SYNONYMOUS_CODING LOW None 0.51138 0.51140 0.43964 None None None None None None ARSG|0.038924858|66.13%
View sp16_820 17 rs1558878
dbSNP Clinvar 		66364804 220.165 T C PASS 0/1 107 NON_SYNONYMOUS_CODING MODERATE None 0.35943 0.35940 0.44595 1.00 0.00 None None None None None None ARSG|0.038924858|66.13%
View sp16_820 17 rs9972951
dbSNP Clinvar 		66391276 214.626 G A PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.11182 0.11180 0.03545 0.50 0.01 None None None None None None ARSG|0.038924858|66.13%
View sp16_820 17 rs1558876
dbSNP Clinvar 		66364691 228.23 C G PASS 0/1 110 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.27596 0.27600 0.36545 0.70 0.00 None None None None None None ARSG|0.038924858|66.13%

ASB16
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 sp16_820 17 rs7218599
dbSNP Clinvar 		42248346 293.793 A T PASS 1/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.92652 0.92650 0.10149 0.07 0.00 None None None None None None ASB16|0.091388506|52.96%
View sp16_820 17 rs140204503
dbSNP Clinvar 		42249650 143.473 T C PASS 0/1 46 SYNONYMOUS_CODING LOW None 0.00200 0.00200 None None None None None None ASB16|0.091388506|52.96%
View sp16_820 17 rs7212854
dbSNP Clinvar 		42254417 116.186 A G PASS 1/1 13 NON_SYNONYMOUS_CODING MODERATE None 0.45427 0.45430 0.15988 0.01 0.22 None None None None None None ASB16|0.091388506|52.96%
View sp16_820 17 rs7212573
dbSNP Clinvar 		42254281 170.855 A G PASS 1/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.51797 0.51800 0.39450 1.00 0.00 None None None None None None ASB16|0.091388506|52.96%
View sp16_820 17 rs7217858
dbSNP Clinvar 		42254527 769.118 T G PASS 1/1 81 NON_SYNONYMOUS_CODING MODERATE None 0.51917 0.51920 0.36072 0.51 0.00 None None None None None None ASB16|0.091388506|52.96%

ASGR2
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 sp16_820 17 rs2304978
dbSNP Clinvar 		7012079 408.272 C T PASS 0/1 124 NON_SYNONYMOUS_CODING MODERATE None 0.25499 0.25500 0.22382 0.70 0.00 None None None None None None ASGR2|0.003649861|87.52%
View sp16_820 17 rs2304979
dbSNP Clinvar 		7012077 408.234 C T PASS 0/1 124 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.25499 0.25500 0.22305 None None None None None None ASGR2|0.003649861|87.52%

ASPSCR1
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 sp16_820 17 rs13087
dbSNP Clinvar 		79974731 121.268 T C PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.58027 0.58030 0.35362 None None None None None None ASPSCR1|0.049924579|62.68%
View sp16_820 17 rs8074498
dbSNP Clinvar 		79954544 71.8738 T A PASS 0/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.38279 0.38280 0.49692 0.00 0.00 None None None None None None ASPSCR1|0.049924579|62.68%

ATAD5
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 sp16_820 17 rs61745366
dbSNP Clinvar 		29205072 37.1715 T C PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.06130 0.06130 0.06285 0.00 0.97 None None None None None None ATAD5|0.264597723|30.33%
View sp16_820 17 rs143006132
dbSNP Clinvar 		29161990 342.266 C T PASS 0/1 111 SYNONYMOUS_CODING LOW None 0.01777 0.01777 0.02261 None None None None None None ATAD5|0.264597723|30.33%
View sp16_820 17 rs999796
dbSNP Clinvar 		29159404 171.03 G C PASS 0/1 63 SYNONYMOUS_CODING LOW None 0.28774 0.28770 0.23674 None None None None None None ATAD5|0.264597723|30.33%
View sp16_820 17 rs9910051
dbSNP Clinvar 		29161202 162.999 A T PASS 0/1 159 NON_SYNONYMOUS_CODING MODERATE None 0.28794 0.28790 0.23519 1.00 0.00 None None None None None None ATAD5|0.264597723|30.33%

ATP1B2
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 sp16_820 17 rs1642763
dbSNP Clinvar 		7557419 269.19 A G PASS 0/1 135 SYNONYMOUS_CODING LOW None 0.78994 0.78990 0.19945 None None None None None None ATP1B2|0.217295492|34.69%

ATP2A3
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 sp16_820 17 rs17846889
dbSNP Clinvar 		3845927 117.068 A G PASS 0/1 61 SYNONYMOUS_CODING LOW None 0.38478 0.38480 0.49716 None None None None None None ATP2A3|0.0615045|59.44%
View sp16_820 17 rs758641
dbSNP Clinvar 		3846802 306.757 A G PASS 0/1 97 SYNONYMOUS_CODING LOW None 0.33327 0.33330 0.43911 None None None None None None ATP2A3|0.0615045|59.44%
View sp16_820 17 rs3179783
dbSNP Clinvar 		3840928 182.101 A G PASS 0/1 72 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.20747 0.20750 0.24189 None None None None None None ATP2A3|0.0615045|59.44%
View sp16_820 17 rs1800911
dbSNP Clinvar 		3848013 37.17 A C PASS 0/1 14 SYNONYMOUS_CODING LOW None 0.33626 0.33630 0.43716 None None None None None None ATP2A3|0.0615045|59.44%
View sp16_820 17 rs1062683
dbSNP Clinvar 		3839685 77.8442 G A PASS 0/1 56 SYNONYMOUS_CODING LOW None 0.16953 0.16950 0.20421 None None None None None None ATP2A3|0.0615045|59.44%