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+ Genes 563

Genes:
AATF, AATK, ABCA5, ABCA6, ABCA8, ABCA9, ABHD15, ABI3, ABR, ACACA, ACAP1, ACE, ACLY, ACOX1, ACSF2, ACTG1, ADAM11, ADPRM, AIPL1, AKAP1, ALDH3A1, ALOX12, ALOX15B, ALOXE3, AMZ2, ANKFN1, ANKFY1, AOC3, AP2B1, ARHGAP23, ARHGAP27, ARHGEF15, ARRB2, ARSG, ASB16, ASIC2, ASPA, ASPSCR1, ATAD5, ATP1B2, ATP2A3, AURKB, AXIN2, AZI1, B3GNTL1, B4GALNT2, B9D1, BAIAP2, BCAS3, BCL6B, BHLHA9, BIRC5, BRCA1, BRIP1, BZRAP1, C17orf102, C17orf47, C17orf49, C17orf53, C17orf58, C17orf59, C17orf70, C17orf72, C17orf74, C17orf77, C17orf78, C17orf80, C17orf82, C17orf96, C17orf97, C17orf99, C1QTNF1, CACNA1G, CALCOCO2, CAMKK1, CAMTA2, CANT1, CARD14, CASKIN2, CBX2, CCDC137, CCDC144A, CCDC144NL, CCDC40, CCDC57, CCL15, CCL2, CCL23, CCL8, CCR7, CCT6B, CD300E, CD300LB, CD300LD, CD300LF, CD300LG, CD79B, CDC6, CDR2L, CDRT1, CDRT15, CDRT4, CEP112, CHAD, CHRNB1, CLDN7, CLUH, CNP, CNTNAP1, CNTROB, COASY, COG1, COIL, COL1A1, COPRS, COX10, COX11, CSF3, CTB-96E2.2, CTC1, CTDNEP1, CTNS, CXCL16, CYB5D1, DCAF7, DCAKD, DDX52, DGKE, DHRS13, DHX33, DLX3, DNAH17, DNAH2, DNAH9, DNAI2, DOC2B, DPH1, DUS1L, DVL2, EFCAB13, EFCAB5, EFTUD2, EIF4A1, EIF5A, ELAC2, ELP5, EME1, ENDOV, ENGASE, ENO3, ENPP7, ENTHD2, EPN2, EPN3, EPX, ERBB2, ERN1, EVI2A, EVPL, EVPLL, EXOC7, FAM104A, FAM20A, FAM211A, FAM83G, FASN, FBF1, FBXO47, FBXW10, FDXR, FMNL1, FN3K, FN3KRP, FNDC8, FOXK2, FTSJ3, GAA, GALR2, GAS2L2, GAST, GFAP, GGA3, GGNBP2, GGT6, GIP, GIT1, GLP2R, GLTPD2, GOSR2, GPATCH8, GPR142, GPS2, GRB7, GRIN2C, GSDMA, HAP1, HDAC5, HELZ, HES7, HEXDC, HEXIM1, HID1, HIGD1B, HNF1B, HOXB1, HOXB13, HOXB5, HOXB7, HS3ST3B1, HSD17B1, HSF5, ICAM2, ICT1, IFI35, IGFBP4, INPP5K, INTS2, ITGA2B, ITGA3, ITGAE, ITGB3, ITGB4, JUP, KANSL1, KAT7, KCNH6, KCNJ12, KDM6B, KIAA0100, KIAA0195, KIAA0753, KIF19, KIF2B, KLHL10, KLHL11, KPNA2, KRT10, KRT13, KRT14, KRT15, KRT16, KRT17, KRT19, KRT20, KRT23, KRT24, KRT25, KRT26, KRT27, KRT28, KRT32, KRT33A, KRT33B, KRT34, KRT35, KRT36, KRT37, KRT38, KRT39, KRT40, KRT9, KRTAP1-1, KRTAP3-1, KRTAP3-3, KRTAP4-1, KRTAP4-11, KRTAP4-5, KRTAP4-6, KRTAP4-7, KRTAP4-8, KRTAP9-1, KRTAP9-2, KRTAP9-3, KRTAP9-4, KRTAP9-8, KSR1, LASP1, LGALS3BP, LGALS9, LLGL1, LLGL2, LPO, LRRC37A, LRRC37A2, LRRC37B, LRRC48, LSMD1, MAP2K3, MAP2K6, MARCH10, MED13, MED24, MFSD6L, MGAT5B, MIEF2, MIF4GD, MINK1, MLLT6, MLX, MMP28, MNT, MPP2, MPP3, MPRIP, MRC2, MRPL38, MRPS23, MSI2, MTMR4, MYADML2, MYBBP1A, MYCBPAP, MYH1, MYH10, MYH13, MYH2, MYH3, MYH4, MYH8, MYO15A, MYO18A, MYO19, MYO1C, NAGLU, NAGS, NAT9, NBR1, NEK8, NEURL4, NF1, NFE2L1, NLE1, NLGN2, NLRP1, NMT1, NOL11, NOS2, NPLOC4, NPTX1, NSRP1, NT5C, NT5C3B, NUP85, NUP88, ODF4, OGFOD3, OR1A1, OR1A2, OR1D2, OR1D5, OR1E1, OR1E2, OR3A2, OR3A3, OSBPL7, OTOP2, OTOP3, P4HB, PCGF2, PCTP, PDK2, PELP1, PEMT, PER1, PFAS, PGAP3, PGS1, PHF12, PIK3R5, PIK3R6, PIP4K2B, PITPNM3, PLCD3, PLD2, PLXDC1, PNPO, POLDIP2, POLG2, POLR2A, PPP1R9B, PRKCA, PSMB6, PSMC3IP, PSMC5, PSMD3, PTGES3L-AARSD1, PYCR1, PYY, QRICH2, RAB11FIP4, RABEP1, RAI1, RAP1GAP2, RARA, RECQL5, RHBDF2, RHOT1, RNF135, RNF157, RNF213, RNF222, RNF43, RNFT1, RP11-1055B8.7, RPA1, RPRML, RPTOR, RSAD1, RTN4RL1, RUNDC1, SARM1, SAT2, SCARF1, SCN4A, SCRN2, SDK2, SEC14L1, SECTM1, SENP3, SEPT4, SERPINF1, SERPINF2, SEZ6, SGSH, SGSM2, SHPK, SIRT7, SKAP1, SLC13A5, SLC16A13, SLC16A3, SLC16A5, SLC25A10, SLC25A19, SLC2A4, SLC35B1, SLC35G6, SLC38A10, SLC39A11, SLC43A2, SLC46A1, SLC47A2, SLC52A1, SLC5A10, SLC9A3R1, SLFN11, SLFN12, SLFN12L, SLFN13, SLFN14, SLFN5, SMCR8, SMG6, SMTNL2, SMYD4, SNF8, SOX9, SP2, SPATA20, SPATA22, SPATA32, SPECC1, SPHK1, SPNS2, SPNS3, SPOP, SPPL2C, SREBF1, SRP68, SRSF2, STARD3, STAT5A, STRADA, STX8, STXBP4, SUPT6H, SYNGR2, SYNRG, TADA2A, TANC2, TAOK1, TAX1BP3, TBC1D16, TBC1D26, TBC1D28, TBCD, TBX2, TBX21, TCAP, TEKT1, TEKT3, TEX14, TIMP2, TK1, TLCD1, TLCD2, TLK2, TM4SF5, TMC6, TMEM104, TMEM256-PLSCR3, TMEM92, TMEM99, TNFRSF13B, TNFSF12, TNFSF12-TNFSF13, TNK1, TNRC6C, TNS4, TOB1, TRIM16, TRIM25, TRIM37, TRIM47, TRIM65, TRPV1, TRPV2, TRPV3, TSEN54, TSPAN10, TSR1, TTC19, TTLL6, TUBD1, TUBG2, TUSC5, TVP23C, UBALD2, UBE2O, UBE2Z, UBTF, ULK2, UNC13D, UNC45B, UNK, USP22, USP36, USP43, USP6, UTP18, UTS2R, VAT1, VMO1, VTN, WDR16, WDR81, WFIKKN2, WNK4, WNT9B, WRAP53, WSB1, WSCD1, XAF1, XYLT2, ZACN, ZFP3, ZMYND15, ZNF286A, ZNF287, ZNF594, ZNF750, ZNF830, ZZEF1,

+ Genes associated with diseases 124

Genes at Omim

ABCA5, ACACA, ACE, ACOX1, ACTG1, AIPL1, ALOXE3, ARSG, ASPA, ASPSCR1, AXIN2, B9D1, BHLHA9, BRCA1, BRIP1, CACNA1G, CANT1, CARD14, CBX2, CCDC40, CCL2, CD79B, CDC6, CHRNB1, CNTNAP1, COASY, COG1, COL1A1, COX10, CTC1, CTNS, DGKE, DLX3, DNAH9, DNAI2, DPH1, EFTUD2, ELAC2, ENO3, EPX, ERBB2, FAM20A, FDXR, GAA, GFAP, GOSR2, HES7, HNF1B, HOXB1, HOXB13, INPP5K, ITGA2B, ITGA3, ITGB3, ITGB4, JUP, KANSL1, KIAA0753, KLHL10, KRT10, KRT13, KRT14, KRT16, KRT17, KRT25, KRT9, MYH2, MYH3, MYH8, MYO15A, NAGLU, NAGS, NEK8, NF1, NLRP1, NUP85, P4HB, PGAP3, PIK3R5, PITPNM3, PNPO, POLG2, PRKCA, PSMC3IP, PYCR1, QRICH2, RAI1, RARA, RHBDF2, RNF213, RNF43, SCN4A, SERPINF1, SGSH, SHPK, SLC13A5, SLC25A19, SLC46A1, SLC52A1, SLC9A3R1, SLFN14, SOX9, STRADA, TBCD, TBX2, TBX21, TCAP, TEX14, TLK2, TMC6, TNFRSF13B, TRIM37, TRPV3, TSEN54, TTC19, UBTF, UNC13D, UNC45B, WDR81, WNK4, WRAP53, XYLT2, ZMYND15, 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)
ALOXE3 Ichthyosis, congenital, autosomal recessive 3, 606545 (3)
ARSG Usher syndrome, type IV, 618144 (3)
ASPA Canavan disease, 271900 (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)
BHLHA9 ?Camptosynpolydactyly, complex, 607539 (3)
Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432 (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)
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)
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)
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)
COX10 Leigh syndrome due to mitochondrial COX4 deficiency, 256000 (3)
Mitochondrial complex IV deficiency, 220110 (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)
EFTUD2 Mandibulofacial dysostosis, Guion-Almeida type, 610536 (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)
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)
GAA Glycogen storage disease II, 232300 (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)
HOXB13 {Prostate cancer, hereditary, 9}, 610997 (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)
KRT25 Woolly hair, autosomal recessive 3, 616760 (3)
KRT9 Palmoplantar keratoderma, epidermolytic, 144200 (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)
NAGS N-acetylglutamate synthase deficiency, 237310 (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)
P4HB Cole-Carpenter syndrome 1, 112240 (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)
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)
RARA Leukemia, acute promyelocytic, 612376 (1)
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)
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)
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)
TBX21 Asthma and nasal polyps, 208550 (3)
{Asthma, aspirin-induced, susceptibility to}, 208550 (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)
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)
UNC13D Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)
UNC45B ?Cataract 43, 616279 (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)
WRAP53 Dyskeratosis congenita, autosomal recessive 3, 613988 (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, ACE, ACOX1, ACTG1, AIPL1, ALOXE3, ASPA, AXIN2, B9D1, BHLHA9, BRCA1, BRIP1, CACNA1G, CANT1, CARD14, CBX2, CCDC137, CCDC40, CD79B, CDC6, CHRNB1, CNTNAP1, COASY, COG1, COL1A1, COX10, CTC1, CTNS, DGKE, DLX3, DNAI2, DPH1, EFTUD2, ELAC2, ENO3, EPX, FAM20A, GAA, GFAP, GOSR2, HES7, HNF1B, HOXB1, ITGA2B, ITGA3, ITGB3, ITGB4, JUP, KANSL1, KLHL10, KRT10, KRT13, KRT14, KRT16, KRT17, KRT25, KRT9, MYH2, MYH3, MYH8, MYO15A, NAGLU, NAGS, NEK8, NF1, NLRP1, P4HB, PGAP3, PIK3R5, PITPNM3, PNPO, POLG2, PSMC3IP, PYCR1, RAI1, RHBDF2, RNF135, RNF213, SCN4A, SERPINF1, SERPINF2, SGSH, SLC13A5, SLC25A19, SLC46A1, SLC52A1, SLC9A3R1, SLFN14, SOX9, STRADA, TCAP, TMC6, TNFRSF13B, TRIM37, TRPV3, TSEN54, TTC19, UNC13D, UNC45B, WDR81, WNK4, WRAP53, ZMYND15, 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
ALOXE3 Ichthyosiform erythroderma, congenital, nonbullous, 1
ASPA Aspartoacylase deficiency (Canavan disease)
AXIN2 Oligodontia-colorectal cancer syndrome
B9D1 Meckel syndrome 9
BHLHA9 Syndactyly, mesoaxial synostotic, with phalangeal reduction
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
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
CHRNB1 Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
Myasthenic syndrome, slow-channel congenital, 2A
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
COX10 Mitochondrial complex IV deficiency
Leigh syndrome
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
EFTUD2 Mandibulofacial dysostosis, Guion-Almeida type
Esophageal atresia, syndromic
ELAC2 Combined oxidative phosphorylation deficiency 17
ENO3 Glycogen storage disease XIII
EPX Eosinophil peroxidase deficiency
FAM20A Amelogenesis imperfecta, type IG (Enamel-renal syndrome)
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
KRT25 Woolly hair, autosomal recessive 3
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)
NAGS N-acetylglutamate synthase deficiency
NEK8 Nephronophthisis 9
NF1 Neurofibromatosis type 1, Neurofibromatosis-Noonan syndrome
Watson syndrome
NLRP1 Corneal intraepithelial dyskeratosis and ectodermal dysplasia
P4HB Cole Carpenter syndrome 1
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
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
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
STRADA Polyhydramnios, megalencephaly, and symptomatic epilepsy
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
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
UNC13D Hemophagocytic lymphohistiocytosis, familial 3
UNC45B Cataract 43
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
WNK4 Pseudohypoaldosteronism, type IIB
WRAP53 Dyskeratosis congenita, autosomal recessive 3
ZMYND15 Spermatogenic failure 14
ZNF750 Seborrhea-like dermatitis with psoriasiform elements

Genes at HGMD

Summary

Number of Variants: 2417
Number of Genes: 563

Export to: CSV

ATAD5
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_961 17 rs999796
dbSNP Clinvar 		29159404 148.33 G C PASS 0/1 38 SYNONYMOUS_CODING LOW None 0.28774 0.28770 0.23674 None None None None None None ATAD5|0.264597723|30.33%

NUP85
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs9988
dbSNP Clinvar 		73230856 1094.83 C T PASS 1/1 117 SYNONYMOUS_CODING LOW None 0.88399 0.88400 0.16408 None None None None None None NUP85|0.371302082|22.64%

ARSG
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_961 17 rs9972951
dbSNP Clinvar 		66391276 534.182 G A PASS 1/1 57 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%

KRT37
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_961 17 rs9916724
dbSNP Clinvar 		39580660 401.897 T C PASS 1/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.39137 0.39140 0.39620 0.71 0.00 None None None None None None KRT37|0.01861193|74.92%

GFAP
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_961 17 rs9916491
dbSNP Clinvar 		42987524 232.529 T C PASS 0/1 153 None None None 0.24361 0.24360 0.26418 0.11 0.00 None None None None None None GFAP|0.981538915|1.41%

KRT37
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_961 17 rs9916484
dbSNP Clinvar 		39580562 363.292 T C PASS 1/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.39137 0.39140 0.39674 0.12 0.00 None None None None None None KRT37|0.01861193|74.92%
View sp16_961 17 rs9916475
dbSNP Clinvar 		39580559 363.241 T A PASS 1/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.39137 0.39140 0.39689 1.00 0.00 None None None None None None KRT37|0.01861193|74.92%

AXIN2
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_961 17 rs9915936
dbSNP Clinvar 		63533789 633.15 T C PASS 1/1 66 SYNONYMOUS_CODING LOW None 0.90974 0.90970 0.08912 None None None None None None AXIN2|0.837375797|4.92%
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_961 17 rs9915922
dbSNP Clinvar 		4083242 194.307 T C PASS 0/1 100 None None None 0.19808 0.19810 None None None None None None CYB5D2|0.023633765|72.36%,ANKFY1|0.171100968|40.16%

PIK3R5
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_961 17 rs9915880
dbSNP Clinvar 		8792003 64.1184 C T PASS 0/1 37 SYNONYMOUS_CODING LOW None 0.20308 0.20310 0.30624 None None None None None None PIK3R5|0.071388323|57.13%
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_961 17 rs9914425
dbSNP Clinvar 		57247249 152.891 T A PASS 0/1 44 None None None 0.27077 0.27080 0.25596 None None None None None None PRR11|0.103284339|50.54%
View sp16_961 17 rs9914096
dbSNP Clinvar 		74533347 497.964 T C PASS 1/1 52 None None None 0.97724 0.97720 None None None None None None CYGB|0.270711575|29.84%,PRCD|0.042652223|64.9%

BZRAP1
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_961 17 rs9913145
dbSNP Clinvar 		56389732 237.792 T C PASS 0/1 123 NON_SYNONYMOUS_CODING MODERATE None 0.17732 0.17730 0.14659 0.91 0.00 None None None None None None BZRAP1|0.092853627|52.65%
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_961 17 rs9912632
dbSNP Clinvar 		961149 601.63 T A PASS 1/1 60 None None None 0.72105 0.72100 0.34341 None None None None None None ABR|0.634601907|10.64%

WDR81
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_961 17 rs9912287
dbSNP Clinvar 		1630992 582.439 G A PASS 1/1 61 SYNONYMOUS_CODING LOW None 0.24601 0.24600 0.22054 None None None None None None WDR81|0.133896381|45.31%

TSEN54
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_961 17 rs9911502
dbSNP Clinvar 		73518203 723.916 G C PASS 1/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.44469 0.44470 0.45960 0.00 0.80 None None None None None None TSEN54|0.050099364|62.63%
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_961 17 rs9911122
dbSNP Clinvar 		74208424 103.594 G A PASS 0/1 43 None None None 0.27177 0.27180 0.27841 None None None None None None RNF157|0.194247228|37.38%
View sp16_961 17 rs9910558
dbSNP Clinvar 		39139256 210.675 A T PASS 1/1 23 None None None 0.69409 0.69410 0.38182 None None None None None None KRT40|0.036746986|66.89%
View sp16_961 17 rs9910463
dbSNP Clinvar 		72791266 584.724 G A PASS 1/1 63 None None None 0.70607 0.70610 0.33931 None None None None None None TMEM104|0.097207269|51.69%

KRT37
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_961 17 rs9910204
dbSNP Clinvar 		39580739 627.704 C A PASS 1/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.21905 0.21900 0.26057 0.15 0.75 None None None None None None KRT37|0.01861193|74.92%
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_961 17 rs9910167
dbSNP Clinvar 		79227092 98.0449 G A PASS 0/1 33 None None None 0.21705 0.21710 0.30897 None None None None None None SLC38A10|0.006623599|83.93%

VTN
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_961 17 rs9910163
dbSNP Clinvar 		26691321 750.529 A G PASS 1/1 78 None None None 0.87919 0.87920 0.16293 1.00 0.00 None None None None None None TMEM199|0.152249989|42.63%,SEBOX|0.304771105|27.29%,VTN|0.304771105|27.29%

ATAD5
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_961 17 rs9910051
dbSNP Clinvar 		29161202 281.797 A T PASS 0/1 120 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%

KCNJ12
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_961 17 rs9909970
dbSNP Clinvar 		21318981 159.267 C T PASS 0/1 420 SYNONYMOUS_CODING LOW None None None None None None None KCNJ12|0.437556296|18.82%
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_961 17 rs9909704
dbSNP Clinvar 		60464688 316.55 C T PASS 1/1 34 None None None 0.92532 0.92530 0.07597 None None None None None None EFCAB3|0.047274747|63.51%

DNAH2
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_961 17 rs9909288
dbSNP Clinvar 		7673928 61.238 C G PASS 0/1 35 SYNONYMOUS_CODING LOW None 0.35803 0.35800 0.27749 None None None None None None DNAH2|0.156733349|42.06%
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_961 17 rs9908964
dbSNP Clinvar 		64025926 488.771 G T PASS 1/1 53 None None None 0.99760 0.99760 None None None None None None CEP112|0.36305341|23.21%
View sp16_961 17 rs9908927
dbSNP Clinvar 		62476260 161.912 G A PASS 0/1 57 None None None 0.28814 0.28810 None None None None None None POLG2|0.129046985|46.03%
View sp16_961 17 rs9908620
dbSNP Clinvar 		62476375 156.329 A C PASS 0/1 66 None None None 0.28814 0.28810 0.29335 None None None None None None POLG2|0.129046985|46.03%

KRT40
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_961 17 rs9908389
dbSNP Clinvar 		39137104 931.564 A G PASS 1/1 97 NON_SYNONYMOUS_CODING MODERATE None 0.36082 0.36080 0.37776 0.78 0.00 None None None None None None KRT40|0.036746986|66.89%
View sp16_961 17 rs9908304
dbSNP Clinvar 		39139370 220.845 G A PASS 1/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.36122 0.36120 0.37652 0.01 0.39 None None None None None None KRT40|0.036746986|66.89%

RNF213
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_961 17 rs9908287
dbSNP Clinvar 		78306308 307.909 C G PASS 0/1 165 SYNONYMOUS_CODING LOW None 0.48742 0.48740 0.40933 None None None None None None RNF213|0.001313454|93.8%
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_961 17 rs9908179
dbSNP Clinvar 		5323631 110.835 A G PASS 0/1 60 None None None 0.57388 0.57390 0.34961 None None None None None None RPAIN|0.023237381|72.57%

UNK
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_961 17 rs9908146
dbSNP Clinvar 		73812909 400.875 A G PASS 1/1 41 SYNONYMOUS_CODING LOW None 0.82328 0.82330 0.10398 None None None None None None UNK|0.298493295|27.75%

C17orf82
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_961 17 rs9907379
dbSNP Clinvar 		59489893 1012.06 T C PASS 1/1 105 NON_SYNONYMOUS_CODING MODERATE None 0.72344 0.72340 0.20319 0.47 0.00 None None None None None None C17orf82|0.000630909|97.68%

OSBPL7
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_961 17 rs9907142
dbSNP Clinvar 		45885687 222.07 A G PASS 0/1 55 SYNONYMOUS_CODING LOW None 0.83666 0.83670 0.09219 None None None None None None OSBPL7|0.136295856|44.95%

FBXO47
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_961 17 rs9906595
dbSNP Clinvar 		37101380 914.643 T C PASS 1/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.97205 0.97200 0.05797 1.00 0.00 None None None None None None FBXO47|0.203159321|36.35%

HID1
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_961 17 rs9906160
dbSNP Clinvar 		72952017 785.773 A G PASS 1/1 81 SYNONYMOUS_CODING LOW None 0.92073 0.92070 0.09350 None None None None None None HID1|0.122556429|47.01%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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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_961 17 rs9905892
dbSNP Clinvar 		33807250 316.135 T A PASS 1/1 36 None None None 0.77177 0.77180 0.25088 None None None None None None SLFN12L|0.000623412|97.76%
View sp16_961 17 rs9904043
dbSNP Clinvar 		27000391 893.092 A G PASS 1/1 94 SPLICE_SITE_REGION LOW None 0.77197 0.77200 0.25665 None None None None None None SUPT6H|0.667925783|9.44%

KRTAP9-2
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 sp16_961 17 rs9903833
dbSNP Clinvar 		39383012 391.658 C T PASS 0/1 126 NON_SYNONYMOUS_CODING MODERATE None 0.59 0.00 None None None None None None KRTAP9-2|0.002317479|90.14%

RTN4RL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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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_961 17 rs9903800
dbSNP Clinvar 		1840468 363.295 C T PASS 1/1 38 SYNONYMOUS_CODING LOW None 0.67911 0.67910 0.25458 None None None None None None RTN4RL1|0.38147087|21.96%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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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_961 17 rs9903704
dbSNP Clinvar 		5266343 86.4048 A G PASS 0/1 43 None None None 0.02037 0.02037 0.03939 None None None None None None RABEP1|0.452926926|18.05%,NUP88|0.126682329|46.39%
View sp16_961 17 rs9903447
dbSNP Clinvar 		8785087 178.779 A C PASS 0/1 99 None None None 0.22664 0.22660 0.31239 None None None None None None PIK3R5|0.071388323|57.13%
View sp16_961 17 rs9903414
dbSNP Clinvar 		72951845 1217.2 G A PASS 1/1 127 None None None 0.67033 0.67030 0.21947 None None None None None None HID1|0.122556429|47.01%
View sp16_961 17 rs9902600
dbSNP Clinvar 		8785092 188.83 C T PASS 0/1 97 None None None 0.17672 0.17670 0.26649 None None None None None None PIK3R5|0.071388323|57.13%

SMYD4
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_961 17 rs9902398
dbSNP Clinvar 		1686410 673.048 T C PASS 1/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.77676 0.77680 0.23036 0.02 0.01 None None None None None None SMYD4|0.036842252|66.85%

PFAS
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_961 17 rs9902252
dbSNP Clinvar 		8168224 130.575 T C PASS 0/1 66 SYNONYMOUS_CODING LOW None 0.52935 0.52940 0.30209 None None None None None None PFAS|0.117467398|47.86%

KRTAP9-2
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_961 17 rs9902235
dbSNP Clinvar 		39383073 394.641 G C PASS 0/1 121 NON_SYNONYMOUS_CODING MODERATE None 0.70907 0.70910 0.09 0.00 None None None None None None KRTAP9-2|0.002317479|90.14%

OR3A2
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_961 17 rs9901356
dbSNP Clinvar 		3181662 961.331 G C PASS 1/1 101 NON_SYNONYMOUS_CODING MODERATE None 0.21566 0.21570 0.17285 0.15 0.46 None None None None None None OR3A2|0.00938512|81.38%

DCAKD
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_961 17 rs9900173
dbSNP Clinvar 		43111688 287.202 G A PASS 0/1 117 SYNONYMOUS_CODING LOW None 0.25579 0.25580 0.29617 None None None None None None DCAKD|0.144743116|43.76%
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_961 17 rs9900141
dbSNP Clinvar 		27093542 604.613 G A PASS 1/1 64 None None None 0.78015 0.78020 None None None None None None FAM222B|0.738321052|7.42%
View sp16_961 17 rs9899955
dbSNP Clinvar 		38176476 928.756 A G PASS 1/1 97 None None None 0.86342 0.86340 0.08531 None None None None None None MED24|0.365333536|23.04%
View sp16_961 17 rs9899816
dbSNP Clinvar 		49067763 917.74 T C PASS 1/1 102 None None None 0.43990 0.43990 0.47555 None None None None None None SPAG9|0.484154198|16.54%
View sp16_961 17 rs9899490
dbSNP Clinvar 		72951823 1251.14 C T PASS 1/1 134 None None None 0.96466 0.96470 None None None None None None HID1|0.122556429|47.01%

RPTOR
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_961 17 rs9899178
dbSNP Clinvar 		78935197 139.569 C T PASS 0/1 94 SYNONYMOUS_CODING LOW None 0.30951 0.30950 0.25020 None None None None None None RPTOR|0.20894956|35.69%

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 sp16_961 17 rs9898751
dbSNP Clinvar 		7950952 324.382 C A PASS 0/1 114 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.44748 0.44750 0.44649 None None None None None None ALOX15B|0.008183706|82.49%

KRT26
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_961 17 rs9898164
dbSNP Clinvar 		38928014 168.064 A G PASS 0/1 125 NON_SYNONYMOUS_CODING MODERATE None 0.15575 0.15580 0.12986 0.01 1.00 None None None None None None KRT26|0.025306314|71.66%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 17 rs9898060
dbSNP Clinvar 		80040048 266.584 C G PASS 0/1 74 None None None 0.04653 0.04653 0.02276 None None None None None None FASN|0.307148829|27.07%

POLR2A
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_961 17 rs9898024
dbSNP Clinvar 		7400137 423.687 T C PASS 1/1 45 SYNONYMOUS_CODING LOW None 0.97324 0.97320 0.02499 None None None None None None POLR2A|0.821167438|5.28%
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_961 17 rs9897842
dbSNP Clinvar 		8168805 46.837 A G PASS 0/1 35 None None None 0.54792 0.54790 0.29056 None None None None None None PFAS|0.117467398|47.86%

EFCAB5
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_961 17 rs9897794
dbSNP Clinvar 		28296327 99.2333 T G PASS 0/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.54233 0.54230 0.46909 0.33 0.00 None None None None None None EFCAB5|0.010207154|80.71%
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_961 17 rs9897606
dbSNP Clinvar 		62493167 52.5179 A G PASS 0/1 27 None None None 0.28994 0.28990 None None None None None None None
View sp16_961 17 rs9897523
dbSNP Clinvar 		36653940 627.693 A G PASS 1/1 66 None None None 0.78215 0.78210 None None None None None None ARHGAP23|0.124657713|46.71%

SLFN11
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_961 17 rs9897352
dbSNP Clinvar 		33680807 195.709 G A PASS 1/1 20 SYNONYMOUS_CODING LOW None 0.75539 0.75540 None None None None None None SLFN11|0.001522791|92.66%

KRTAP4-11
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_961 17 rs9897031
dbSNP Clinvar 		39274518 968.627 C T PASS 1/1 102 NON_SYNONYMOUS_CODING MODERATE None 0.68770 0.68770 0.21463 1.00 0.00 None None None None None None KRTAP4-11|0.005077297|85.71%
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_961 17 rs9896766
dbSNP Clinvar 		39983644 382.409 A C PASS 1/1 41 None None None 0.78614 0.78610 0.23943 None None None None None None NT5C3B|0.071842185|57.03%
View sp16_961 17 rs9896462
dbSNP Clinvar 		62499701 108.899 G C PASS 0/1 56 None None None 0.06589 0.06589 0.07321 None None None None None None DDX5|0.937817771|2.55%

DNAH17
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_961 17 rs9896398
dbSNP Clinvar 		76503593 1037.03 T C PASS 1/1 108 NON_SYNONYMOUS_CODING MODERATE None 0.57847 0.57850 0.34602 0.00 None None None None None None DNAH17|0.043900967|64.55%

SDK2
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_961 17 rs9895895
dbSNP Clinvar 		71503636 109.987 T C PASS 0/1 37 SYNONYMOUS_CODING LOW None 0.56889 0.56890 0.37166 None None None None None None SDK2|0.207253642|35.88%
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_961 17 rs9895872
dbSNP Clinvar 		79972901 166.882 C T PASS 0/1 55 None None None 0.40795 0.40790 0.48641 None None None None None None ASPSCR1|0.049924579|62.68%
View sp16_961 17 rs9895829
dbSNP Clinvar 		7578679 142.04 A G PASS 0/1 81 None None None 0.08107 0.08107 None None None None None None TP53|0.999869342|0.2%

FBXW10
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_961 17 rs9895749
dbSNP Clinvar 		18653070 158.022 G A PASS 0/1 90 NON_SYNONYMOUS_CODING MODERATE None 0.36768 0.22 0.03 None None None None None None FBXW10|0.006929798|83.58%

EXOC7
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_961 17 rs9895541
dbSNP Clinvar 		74097331 76.4461 G A PASS 0/1 62 None None None 0.12800 0.12800 0.12963 None None None None None None EXOC7|0.311837374|26.7%

DNAH9
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_961 17 rs9895535
dbSNP Clinvar 		11532835 142.514 A G PASS 0/1 84 SYNONYMOUS_CODING LOW None 0.39277 0.39280 0.44149 None None None None None None DNAH9|0.176098085|39.51%

TMC6
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_961 17 rs9895373
dbSNP Clinvar 		76121004 39.7494 G A PASS 0/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.07268 0.07268 0.02838 0.45 0.03 None None None None None None TMC6|0.012286436|79.04%
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_961 17 rs9894913
dbSNP Clinvar 		76503527 244.037 G A PASS 0/1 141 None None None 0.27935 0.27940 0.32405 None None None None None None DNAH17|0.043900967|64.55%
View sp16_961 17 rs9894668
dbSNP Clinvar 		39595116 401.897 G T PASS 1/1 43 None None None 0.21905 0.21900 0.26096 None None None None None None KRT38|0.008684534|81.96%
View sp16_961 17 rs9894648
dbSNP Clinvar 		29653293 94.6887 T C PASS 0/1 60 None None None 0.60583 0.60580 0.32331 None None None None None None NF1|0.993936903|0.88%
View sp16_961 17 rs9894091
dbSNP Clinvar 		39018961 85.5226 A G PASS 0/1 74 None None None 0.11442 0.11440 None None None None None None KRT12|0.089362402|53.37%
View sp16_961 17 rs9894044
dbSNP Clinvar 		39593620 508.51 T C PASS 1/1 54 None None None 0.21905 0.21900 0.25719 None None None None None None KRT38|0.008684534|81.96%
View sp16_961 17 rs9894026
dbSNP Clinvar 		73494963 773.45 G A PASS 1/1 78 None None None 0.77955 0.77960 0.10464 None None None None None None KIAA0195|0.197023005|37.03%

ASIC2
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_961 17 rs9893935
dbSNP Clinvar 		31618732 325.38 A G PASS 0/1 128 SYNONYMOUS_CODING LOW None 0.55990 0.55990 0.48428 None None None None None None ASIC2|0.867321872|4.31%

STX8
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_961 17 rs9893664
dbSNP Clinvar 		9395231 117.269 G A PASS 0/1 69 SYNONYMOUS_CODING LOW None 0.71226 0.71230 0.26941 None None None None None None STX8|0.539449279|14.22%

MLLT6
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_961 17 rs9892493
dbSNP Clinvar 		36873149 43.4342 C T PASS 0/1 53 SYNONYMOUS_CODING LOW None 0.14117 0.14120 0.11518 None None None None None None MLLT6|0.148519728|43.22%

DNAH9
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_961 17 rs9892256
dbSNP Clinvar 		11523082 530.604 A G PASS 1/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.99022 0.99020 0.00823 0.00 None None None None None None DNAH9|0.176098085|39.51%
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_961 17 rs9892089
dbSNP Clinvar 		27002402 615.954 A G PASS 1/1 65 None None None 0.77097 0.77100 0.25734 None None None None None None SUPT6H|0.667925783|9.44%
View sp16_961 17 rs9892064
dbSNP Clinvar 		80827903 226.793 C T PASS 0/1 77 None None None 0.56689 0.56690 None None None None None None TBCD|0.013900212|77.94%
View sp16_961 17 rs9891809
dbSNP Clinvar 		71081078 351.112 G A PASS 1/1 37 None None None 0.80851 0.80850 None None None None None None SLC39A11|0.077692512|55.74%

PFAS
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_961 17 rs9891699
dbSNP Clinvar 		8157310 204.376 C T PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.63478 0.63480 0.29740 0.80 0.00 None None None None None None PFAS|0.117467398|47.86%

KRT13
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_961 17 rs9891361
dbSNP Clinvar 		39659913 388.252 G A PASS 1/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.70527 0.70530 0.30486 0.04 0.40 None None None None None None KRT13|0.071438602|57.11%

ARHGAP23
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_961 17 rs9891156
dbSNP Clinvar 		36646386 786.117 A G PASS 1/1 83 SYNONYMOUS_CODING LOW None 0.99082 0.99080 0.02015 None None None None None None ARHGAP23|0.124657713|46.71%

C17orf58
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_961 17 rs9891146
dbSNP Clinvar 		65988049 860.075 T C PASS 1/1 90 NON_SYNONYMOUS_CODING MODERATE None 0.48702 0.48700 0.37779 1.00 0.00 None None None None None None C17orf58|0.004787817|86.11%

MYCBPAP
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_961 17 rs9890721
dbSNP Clinvar 		48603503 149.755 C T PASS 0/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.53774 0.53770 0.44772 0.26 0.01 None None None None None None MYCBPAP|0.009182852|81.53%
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_961 17 rs9890678
dbSNP Clinvar 		26818676 177.697 T C PASS 0/1 62 None None None 0.95507 0.95510 0.02783 None None None None None None SLC13A2|0.03200904|68.62%

OTOP3
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_961 17 rs9890664
dbSNP Clinvar 		72937851 126.487 G A PASS 0/1 118 NON_SYNONYMOUS_CODING MODERATE None 0.65375 0.65380 0.36814 0.89 0.00 None None None None None None OTOP3|0.040904802|65.46%

EVPLL
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_961 17 rs9890369
dbSNP Clinvar 		18291559 170.395 T C PASS 0/1 87 SYNONYMOUS_CODING LOW None 0.26518 0.26520 0.25449 None None None None None None EVPLL|0.002239233|90.3%
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_961 17 rs9890028
dbSNP Clinvar 		7406343 1629.12 T C PASS 1/1 178 None None None 0.97304 0.97300 None None None None None None POLR2A|0.821167438|5.28%

KIAA0753
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_961 17 rs9889363
dbSNP Clinvar 		6524298 615.954 T A PASS 1/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.30791 0.30790 0.32327 0.01 0.98 None None None None None None KIAA0753|0.01638891|76.23%

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_961 17 rs987644816
dbSNP Clinvar 		43507507 25.9434 G A PASS 0/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.99 6.59 0.16 0.84299 D None None None None ARHGAP27|0.041158202|65.39%