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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

PDK2
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 rs9839
dbSNP Clinvar 		48174908 141.826 C T PASS 0/1 69 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.43510 0.43510 0.35553 None None None None None None PDK2|0.36750575|22.9%

B4GALNT2
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 rs16946912
dbSNP Clinvar 		47246979 280.713 A G PASS 0/1 102 SYNONYMOUS_CODING LOW None 0.12201 0.12200 0.11541 None None None None None None B4GALNT2|0.038585126|66.26%

TADA2A
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 rs7211875
dbSNP Clinvar 		35771468 1048.19 C T PASS 1/1 113 NON_SYNONYMOUS_CODING MODERATE None 0.85483 0.85480 0.11687 0.71 0.00 None None None None None None TADA2A|0.807713121|5.61%

WSB1
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 rs6561
dbSNP Clinvar 		25628820 127.272 T C PASS 0/1 99 NON_SYNONYMOUS_CODING MODERATE None 0.45607 0.45610 0.49208 1.00 0.00 None None None None None None WSB1|0.660780633|9.66%

SARM1
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 rs71373646
dbSNP Clinvar 		26708302 435.336 G T PASS 1/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.99940 0.99940 0.11904 0.57 0.00 None None None None None None TMEM199|0.152249989|42.63%,SARM1|0.349245398|24.19%

SYNRG
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 rs1045000
dbSNP Clinvar 		35896123 197.033 T C PASS 0/1 139 SYNONYMOUS_CODING LOW None 0.23443 0.23440 0.21513 None None None None None None SYNRG|0.309565847|26.86%

SARM1
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 rs71373647
dbSNP Clinvar 		26708304 426.122 T G PASS 1/1 46 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.01054 0.60 0.01 None None None None None None TMEM199|0.152249989|42.63%,SARM1|0.349245398|24.19%

SLC46A1
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 rs5819844,rs561780114
dbSNP Clinvar 		26727721 758.588 GA G PASS 1/1 133 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00033 None None None None None None SARM1|0.349245398|24.19%,SLC46A1|0.07823181|55.6%

MYO18A
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 rs8076604
dbSNP Clinvar 		27438469 127.789 G A PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.52836 0.52840 0.43452 0.00 1.00 None None None None None None MYO18A|0.508450233|15.46%

EFCAB5
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 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%
View sp16_961 17 rs4795524
dbSNP Clinvar 		28320248 664.504 T A PASS 1/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.98742 0.98740 0.02139 1.00 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 . 30791502 345.78 TC... TT... PASS 1/1 38 None None None None None None None None None PSMD11|0.870267094|4.19%

C17orf102
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 rs887230
dbSNP Clinvar 		32904586 519.796 C T PASS 1/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.79653 0.79650 0.14248 1.00 0.00 None None None None None None C17orf102|0.001543346|92.55%

GSDMA
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 rs3894194
dbSNP Clinvar 		38121993 487.102 G A PASS 0/1 204 NON_SYNONYMOUS_CODING MODERATE None 0.43091 0.43090 0.40407 0.14 0.05 None None None None None None GSDMA|0.08984738|53.26%

KRT25
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 rs35076248
dbSNP Clinvar 		38911327 139.949 C G PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.16534 0.16530 0.14117 0.22 0.00 None None None None None None KRT25|0.138179747|44.66%

KRT39
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 rs7213256
dbSNP Clinvar 		39114962 126.048 C T PASS 0/1 81 NON_SYNONYMOUS_CODING MODERATE None 0.24920 0.24920 0.26535 0.46 0.02 None None None None None None KRT39|0.034654578|67.55%
View sp16_961 17 rs17843021
dbSNP Clinvar 		39116728 63.5916 G A PASS 0/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.11681 0.11680 0.13587 0.01 0.77 None None None None None None KRT39|0.034654578|67.55%

HAP1
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 rs4523977
dbSNP Clinvar 		39883350 161.014 G A PASS 0/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.19888 0.19890 0.16070 0.51 0.00 None None None None None None JUP|0.822839641|5.24%,HAP1|0.012770935|78.67%

AOC3
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 rs33986943
dbSNP Clinvar 		41004637 245.489 G A PASS 0/1 108 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.04832 0.04832 0.07450 0.38 0.00 None None None None None None AOC3|0.087399951|53.73%

COASY
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 rs598126
dbSNP Clinvar 		40716520 1267.06 A G PASS 1/1 133 SYNONYMOUS_CODING LOW None 0.50459 0.50460 0.49839 None None None None None None COASY|0.070973902|57.21%

TMEM92
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 rs6504642
dbSNP Clinvar 		48356260 46.976 G C PASS 0/1 11 NON_SYNONYMOUS_CODING MODERATE None 0.14277 0.14280 0.40351 0.87 0.00 None None None None None None TMEM92|0.002095414|90.75%

XYLT2
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 rs6504649
dbSNP Clinvar 		48437456 209.313 C G PASS 0/1 108 NON_SYNONYMOUS_CODING MODERATE None 0.25100 0.25100 0.34466 0.00 0.04 None None None None None None XYLT2|0.099224608|51.33%

OTOP2
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 rs6501741
dbSNP Clinvar 		72927123 782.452 G T PASS 1/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.54473 0.54470 0.46509 0.01 0.26 None None None None None None OTOP2|0.066881702|58.18%

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%
View sp16_961 17 rs1542752
dbSNP Clinvar 		72938100 500.181 T C PASS 0/1 145 NON_SYNONYMOUS_CODING MODERATE None 0.90615 0.90620 0.13317 1.00 0.00 None None None None None None OTOP3|0.040904802|65.46%
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 rs7503695
dbSNP Clinvar 		36734700 869.647 T C PASS 1/1 90 None None None 0.17292 None None None None None None SRCIN1|0.190057253|37.81%

FBXO47
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 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%
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 rs56209259
dbSNP Clinvar 		49237281 99.6545 A G PASS 0/1 65 None None None 0.03714 0.03714 None None None None None None NME1|0.490570181|16.28%,NME1-NME2|0.384725906|21.74%,NME2|0.456721535|17.84%
View sp16_961 17 rs5820378,rs374639710
dbSNP Clinvar 		39123131 318.315 G GT PASS 1/1 55 None None None 0.43811 None None None None None None KRT39|0.034654578|67.55%
View sp16_961 17 rs2159359
dbSNP Clinvar 		49239036 264.827 C A PASS 0/1 142 None None None 0.23482 0.23480 None None None None None None NME1|0.490570181|16.28%,NME1-NME2|0.384725906|21.74%,NME2|0.456721535|17.84%

KIF2B
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 rs4561518
dbSNP Clinvar 		51901643 618.467 C T PASS 1/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.76018 0.76020 0.17300 1.00 0.00 None None None None None None KIF2B|0.020399971|73.97%
View sp16_961 17 rs4561519
dbSNP Clinvar 		51901703 735.979 C G PASS 1/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.76238 0.76240 0.16462 1.00 0.00 None None None None None None KIF2B|0.020399971|73.97%
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 rs35477472
dbSNP Clinvar 		21202078 128.161 G A PASS 0/1 94 None None None None None None None None None MAP2K3|0.4379498|18.79%

GAA
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 rs1800304
dbSNP Clinvar 		78082504 116.188 G A PASS 1/1 13 SYNONYMOUS_CODING LOW None 0.60284 0.60280 0.32923 None None None None None None GAA|0.017886334|75.35%

MYO15A
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 rs2955379
dbSNP Clinvar 		18052867 497.832 T C PASS 1/1 53 SYNONYMOUS_CODING LOW None 0.98982 0.98980 0.00048 None None None None None None MYO15A|0.178183039|39.27%

LLGL1
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 rs2290505
dbSNP Clinvar 		18137141 61.4032 A G PASS 1/1 7 NON_SYNONYMOUS_CODING MODERATE None 0.78235 0.78230 0.21967 1.00 0.00 None None None None None None LLGL1|0.09766566|51.58%

KRT19
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 rs4601
dbSNP Clinvar 		39681475 97.0853 A G PASS 0/1 28 SYNONYMOUS_CODING LOW None 0.73183 0.73180 0.37990 None None None None None None KRT19|0.230673274|33.31%

ABHD15
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 rs542939
dbSNP Clinvar 		27889986 1111.02 T C PASS 1/1 116 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%

RSAD1
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 rs2290862
dbSNP Clinvar 		48557326 231.77 G A PASS 1/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.58447 0.58450 0.29156 0.48 0.01 None None None None None None RSAD1|0.053104955|61.76%
View sp16_961 17 rs2290861
dbSNP Clinvar 		48557348 231.771 T C PASS 1/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.58467 0.58470 0.29148 0.42 0.00 None None None None None None RSAD1|0.053104955|61.76%

AURKB
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 rs1059476
dbSNP Clinvar 		8108331 716.01 A G PASS 1/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.73602 0.73600 0.17815 0.44 0.00 None None None None None None AURKB|0.524730103|14.76%
View sp16_961 17 rs2241909
dbSNP Clinvar 		8108339 748.281 G A PASS 1/1 78 SYNONYMOUS_CODING LOW None 0.62081 0.62080 0.38167 None None None None None None AURKB|0.524730103|14.76%

ATAD5
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 rs61745366
dbSNP Clinvar 		29205072 53.8241 T C PASS 0/1 35 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%

TNFSF12-TNFSF13
Omim - GeneCards - NCBI
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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 rs3803800
dbSNP Clinvar 		7462969 327.651 A G PASS 1/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.55970 0.55970 0.35322 0.20 0.17 None None None None None None TNFSF12|0.081694883|54.83%,TNFSF12-TNFSF13|0.142772686|44.03%,TNFSF13|0.39814226|20.89%

RNF135
Omim - GeneCards - NCBI
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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 rs7225888
dbSNP Clinvar 		29298304 33.0384 C G PASS 0/1 7 NON_SYNONYMOUS_CODING MODERATE None 0.21825 0.21830 0.13291 0.68 0.00 None None None None None None RNF135|0.002318691|90.13%

SREBF1
Omim - GeneCards - NCBI
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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 rs36215896
dbSNP Clinvar 		17720319 427.57 C T PASS 0/1 138 NON_SYNONYMOUS_CODING MODERATE None 0.00739 0.00739 0.01123 0.00 0.94 None None None None None None SREBF1|0.208630723|35.75%

LRRC48
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 rs4368210
dbSNP Clinvar 		17896090 617.306 C T PASS 1/1 65 SYNONYMOUS_CODING LOW None 0.58187 0.58190 0.35384 None None None None None None LRRC48|0.058782797|60.21%,ATPAF2|0.133115662|45.43%

RNF213
Omim - GeneCards - NCBI
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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 rs4890012
dbSNP Clinvar 		78319380 125.634 G C PASS 0/1 64 SYNONYMOUS_CODING LOW None 0.00040 0.47320 0.42750 None None None None None None RNF213|0.001313454|93.8%

LRRC48
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 rs4584886
dbSNP Clinvar 		17896205 1397.57 C T PASS 1/1 146 NON_SYNONYMOUS_CODING MODERATE None 0.58207 0.58210 0.35099 0.00 0.95 None None None None None None LRRC48|0.058782797|60.21%,ATPAF2|0.133115662|45.43%

MYO15A
Omim - GeneCards - NCBI
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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 rs2955366
dbSNP Clinvar 		18024013 107.808 A G PASS 1/1 12 SYNONYMOUS_CODING LOW None 0.56590 0.56590 0.30364 None None None None None None MYO15A|0.178183039|39.27%

RNF213
Omim - GeneCards - NCBI
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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 rs4889848
dbSNP Clinvar 		78354661 24.3537 C T PASS 0/1 28 SYNONYMOUS_CODING LOW None 0.75939 0.75940 0.11825 None None None None None None RNF213|0.001313454|93.8%

ENDOV
Omim - GeneCards - NCBI
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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 rs370977155
dbSNP Clinvar 		78395695 344.369 G A PASS 0/1 68 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00879 0.00879 0.00008 0.00 1.00 None None None None None None ENDOV|0.017164071|75.74%

RNF135
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 rs7211440
dbSNP Clinvar 		29298413 17.6942 T C PASS 0/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.21705 0.21710 0.12967 0.84 0.00 None None None None None None RNF135|0.002318691|90.13%

CCT6B
Omim - GeneCards - NCBI
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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 rs9635769
dbSNP Clinvar 		33288363 254.05 C T PASS 0/1 138 NON_SYNONYMOUS_CODING MODERATE None 0.54872 0.54870 0.49008 0.92 0.00 None None None None None None CCT6B|0.170692374|40.2%

ZNF830
Omim - GeneCards - NCBI
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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 rs931196
dbSNP Clinvar 		33288882 584.022 T G PASS 1/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.88199 0.88200 0.11203 0.93 0.00 None None None None None None CCT6B|0.170692374|40.2%,ZNF830|0.069699215|57.55%
Omim - GeneCards - NCBI
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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 rs4968214
dbSNP Clinvar 		7477477 580.867 A G PASS 1/1 60 None None None 0.57808 0.57810 None None None None None None EIF4A1|0.439250907|18.71%

LSMD1
Omim - GeneCards - NCBI
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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 rs8522
dbSNP Clinvar 		7760704 220.868 A G PASS 1/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.43630 0.43630 0.26342 1.00 0.00 None None None None None None NAA38|0.548761637|13.79%

CYB5D1
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 rs12453250
dbSNP Clinvar 		7761512 657.02 C A PASS 1/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.25639 0.25640 0.17607 0.02 0.33 None None None None None None NAA38|0.548761637|13.79%,CYB5D1|0.08501916|54.2%

KRT19
Omim - GeneCards - NCBI
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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 rs4602
dbSNP Clinvar 		39684321 68.4409 G C PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.74800 0.74800 0.36808 1.00 0.00 None None None None None None KRT19|0.230673274|33.31%
View sp16_961 17 rs11550883
dbSNP Clinvar 		39684410 44.7333 G A PASS 0/1 23 SYNONYMOUS_CODING LOW None 0.68411 0.68410 0.41396 None None None None None None KRT19|0.230673274|33.31%

KRT9
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 rs3890472
dbSNP Clinvar 		39723990 604.61 T A PASS 1/1 64 SYNONYMOUS_CODING LOW None 0.64736 0.64740 0.49892 None None None None None None KRT9|0.008117817|82.53%

TUBG2
Omim - GeneCards - NCBI
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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 rs1046097
dbSNP Clinvar 		40818699 1614.58 A G PASS 1/1 168 NON_SYNONYMOUS_CODING MODERATE None 0.47784 0.47780 0.47540 0.54 0.00 None None None None None None TUBG2|0.298957112|27.7%

BRCA1
Omim - GeneCards - NCBI
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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 rs16941
dbSNP Clinvar 		41244435 117.045 T C PASS 0/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.33566 0.33570 0.27903 0.17 0.45 None None None None None None BRCA1|0.986984945|1.2%
Omim - GeneCards - NCBI
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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 rs7207022
dbSNP Clinvar 		7846684 52.8453 G A PASS 0/1 12 None None None 0.59545 0.59540 0.44526 3.67 0.01 0.13744 T None None None None CNTROB|0.086163509|53.91%

CNTROB
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 rs11650083
dbSNP Clinvar 		7847955 105.426 C A PASS 0/1 58 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.60463 0.60460 0.46394 0.37 0.28 None None None None None None CNTROB|0.086163509|53.91%
View sp16_961 17 rs4462665
dbSNP Clinvar 		7849087 226.457 C G PASS 0/1 97 SYNONYMOUS_CODING LOW None 0.63099 0.63100 0.49177 None None None None None None CNTROB|0.086163509|53.91%

BRCA1
Omim - GeneCards - NCBI
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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 rs799917
dbSNP Clinvar 		41244936 166.233 G A PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.54393 0.54390 0.49316 1.00 0.00 None None None None None None BRCA1|0.986984945|1.2%
View sp16_961 17 rs16940
dbSNP Clinvar 		41245237 68.1709 A G PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.33526 0.33530 0.27764 None None None None None None BRCA1|0.986984945|1.2%
View sp16_961 17 rs1799949
dbSNP Clinvar 		41245466 68.0933 G A PASS 0/1 49 SYNONYMOUS_CODING LOW None 0.33646 0.33650 0.29568 None None None None None None BRCA1|0.986984945|1.2%

NBR1
Omim - GeneCards - NCBI
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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 rs8482
dbSNP Clinvar 		41361960 110.877 A G PASS 0/1 81 NON_SYNONYMOUS_CODING MODERATE None 0.35703 0.35700 0.30563 0.35 0.67 None None None None None None NBR1|0.238714811|32.54%

BZRAP1
Omim - GeneCards - NCBI
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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%
View sp16_961 17 rs2072147
dbSNP Clinvar 		56395757 161.251 C T PASS 0/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.06629 0.06629 0.04329 0.14 0.01 None None None None None None BZRAP1|0.092853627|52.65%
View sp16_961 17 rs2072145
dbSNP Clinvar 		56396609 115.842 T C PASS 0/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.05791 0.05791 0.03302 0.69 0.00 None None None None None None BZRAP1|0.092853627|52.65%
View sp16_961 17 rs61743272
dbSNP Clinvar 		56405024 432.359 G A PASS 0/1 166 SYNONYMOUS_CODING LOW None 0.05132 0.05132 0.04083 None None None None None None BZRAP1|0.092853627|52.65%

RNF43
Omim - GeneCards - NCBI
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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 rs2680701
dbSNP Clinvar 		56438301 60.7184 G A PASS 0/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.08247 0.08247 0.15009 0.04 0.01 None None None None None None RNF43|0.146347521|43.55%
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 . 11827112 222.113 GC AA PASS 0/1 106 None None None None None None None None None DNAH9|0.176098085|39.51%

RNF43
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 rs2257205
dbSNP Clinvar 		56448297 135.668 C T PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.22624 0.22620 0.13471 0.21 0.03 None None None None None None RNF43|0.146347521|43.55%

ABCA6
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 rs7212506
dbSNP Clinvar 		67101718 1161.55 C T PASS 1/1 123 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%

ABCA5
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 rs11544715
dbSNP Clinvar 		67304447 220.046 C T PASS 0/1 115 NON_SYNONYMOUS_CODING MODERATE None 0.12400 0.12400 0.15132 0.13 0.04 None None None None None None ABCA5|0.269145961|29.93%

COG1
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 rs1551036
dbSNP Clinvar 		71197439 310.692 C T PASS 0/1 83 SYNONYMOUS_CODING LOW None 0.13179 0.13180 0.14094 None None None None None None COG1|0.033535253|67.93%
View sp16_961 17 rs1037256
dbSNP Clinvar 		71197748 324.368 G A PASS 0/1 114 SYNONYMOUS_CODING LOW None 0.52536 0.52540 0.46494 None None None None None None COG1|0.033535253|67.93%

C17orf80
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 rs745142
dbSNP Clinvar 		71232881 131.54 G C PASS 0/1 118 NON_SYNONYMOUS_CODING MODERATE None 0.52177 0.52180 0.46632 0.48 0.32 None None None None None None FAM104A|0.086418292|53.87%,C17orf80|0.001436401|93.13%
View sp16_961 17 rs11869253
dbSNP Clinvar 		71233130 224.271 A G PASS 0/1 105 SYNONYMOUS_CODING LOW None 0.51957 0.51960 0.46216 None None None None None None C17orf80|0.001436401|93.13%
View sp16_961 17 rs1566286
dbSNP Clinvar 		71238433 75.089 G A PASS 0/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.51597 0.51600 0.47355 1.00 0.00 None None None None None None C17orf80|0.001436401|93.13%
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 rs11652712
dbSNP Clinvar 		19240972 831.608 G A PASS 1/1 93 None None None 0.00260 0.90080 None None None None None None B9D1|0.081015319|54.99%
View sp16_961 17 rs2079703
dbSNP Clinvar 		56603978 77.9397 G A PASS 0/1 28 None None None 0.39317 0.39320 None None None None None None SEPT4|0.543372088|14.06%

C17orf47
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 rs8071623
dbSNP Clinvar 		56621286 160.991 G T PASS 0/1 97 NON_SYNONYMOUS_CODING MODERATE None 0.89637 0.89640 0.17607 1.00 0.00 None None None None None None C17orf47|0.004415017|86.48%
View sp16_961 17 rs6503867
dbSNP Clinvar 		56621359 99.9729 T C PASS 0/1 82 SYNONYMOUS_CODING LOW None 0.91034 0.91030 0.16162 None None None None None None C17orf47|0.004415017|86.48%

TEX14
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 rs7225128
dbSNP Clinvar 		56636854 97.8821 T C PASS 0/1 42 SYNONYMOUS_CODING LOW None 0.89697 0.89700 0.17577 None None None None None None TEX14|0.033776533|67.85%
View sp16_961 17 rs6503870
dbSNP Clinvar 		56659018 187.667 C T PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.60743 0.60740 0.34707 0.46 0.02 None None None None None None TEX14|0.033776533|67.85%
View sp16_961 17 rs389389
dbSNP Clinvar 		56676368 231.486 T C PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.08966 0.08966 0.16154 0.37 0.01 None None None None None None TEX14|0.033776533|67.85%

BRIP1
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 rs4986764
dbSNP Clinvar 		59763347 748.284 A G PASS 1/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.62780 0.62780 0.38659 0.94 0.00 None None None None None None BRIP1|0.463785702|17.47%
View sp16_961 17 rs4986765
dbSNP Clinvar 		59763465 447.291 T C PASS 1/1 49 SYNONYMOUS_CODING LOW None 0.81510 0.81510 0.26572 None None None None None None BRIP1|0.463785702|17.47%
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 rs12953074
dbSNP Clinvar 		181474 267.064 T C PASS 1/1 28 None None None 0.84245 0.84250 None None None None None None RPH3AL|0.167504186|40.6%
View sp16_961 17 rs2474694
dbSNP Clinvar 		618039 531.504 G A PASS 1/1 56 START_GAINED LOW None 0.51298 0.51300 None None None None None None VPS53|0.411696194|20.07%
View sp16_961 17 rs2955626
dbSNP Clinvar 		618100 541.624 C G PASS 1/1 57 MOTIF[MA0062.1:Gabp] MODIFIER None 0.66753 0.66750 None None None None None None VPS53|0.411696194|20.07%

MYO1C
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 rs2286873
dbSNP Clinvar 		1377943 356.063 A G PASS 0/1 106 SYNONYMOUS_CODING LOW None 0.41753 0.41750 0.45141 None None None None None None MYO1C|0.50378708|15.67%

SERPINF1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 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 rs6828
dbSNP Clinvar 		1680002 652.007 T C PASS 1/1 68 SYNONYMOUS_CODING LOW None 0.77676 0.77680 0.22989 None None None None None None SERPINF1|0.235212244|32.9%

SMYD4
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 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%
View sp16_961 17 rs11549830
dbSNP Clinvar 		1690752 357.543 G A PASS 0/1 127 NON_SYNONYMOUS_CODING MODERATE None 0.44050 0.44050 0.35042 0.01 0.85 None None None None None None SMYD4|0.036842252|66.85%