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Genes:
AATF, AATK, ABCA10, ABCA5, ABCA6, ABCA8, ABCA9, ABCC3, ABHD15, ABI3, ABR, AC006435.1, AC061992.1, AC087645.1, ACACA, ACAP1, ACE, ACLY, ACOX1, ACSF2, ACTG1, ADAM11, ADPRM, AIPL1, AKAP1, AKAP10, ALDH3A1, ALDH3A2, ALOX12, ALOX15, ALOX15B, ALOXE3, AMZ2, ANKFN1, ANKFY1, APOH, APPBP2, ARHGAP23, ARHGAP27, ARHGAP44, ARHGEF15, ARRB2, ARSG, ASB16, ASGR2, ASPSCR1, ATAD5, ATP1B2, ATP2A3, ATP6V0A1, AURKB, AXIN2, AZI1, B3GNTL1, B4GALNT2, B9D1, BAIAP2, BCAS3, BCL6B, BIRC5, BLMH, BRCA1, BRIP1, C17orf102, C17orf107, C17orf47, C17orf49, C17orf50, C17orf53, C17orf58, C17orf59, C17orf66, C17orf70, C17orf72, C17orf74, C17orf77, C17orf78, C17orf80, C17orf99, CA10, CACNA1G, CALCOCO2, CAMKK1, CAMTA2, CANT1, CARD14, CASKIN2, CBX2, CCDC137, CCDC144NL, CCDC182, CCDC40, CCDC57, CCL14, CCL15, CCL2, CCL23, CCT6B, CD300A, CD300E, CD300LB, CD300LD, CD300LF, CD79B, CDC27, CDC6, CDK5RAP3, CDR2L, CDRT1, CDRT4, CEP112, CHAD, CHMP6, CHRNB1, CHRNE, CLDN7, CLEC10A, CLTC, CLUH, CNP, CNTNAP1, CNTROB, COASY, COG1, COIL, COL1A1, COPRS, COPS3, COX10, CPD, CRHR1, CRK, CSF3, CSHL1, CTC1, CTDNEP1, CTNS, CXCL16, CYB5D1, DBF4B, DCAF7, DDX5, DDX52, DGKE, DHRS13, DHX33, DHX58, DLG4, DLX4, DNAH17, DNAH17-AS1, DNAH2, DNAH9, DNAI2, DPH1, DRG2, DVL2, EFCAB13, EFCAB3, EFCAB5, EFNB3, EFTUD2, EIF4A1, ELP5, EME1, ENDOV, ENGASE, ENO3, ENTHD2, EPN2, EPN3, EPX, ERAL1, ERBB2, ERN1, EVI2A, EVPLL, FAM104A, FAM187A, FAM20A, FAM211A, FAM215A, FAM222B, FAM57A, FAM83G, FASN, FBF1, FBXO39, FBXO47, FBXW10, FDXR, FMNL1, FN3K, FN3KRP, FNDC8, FOXK2, FTSJ3, FXR2, FZD2, GAA, GAS2L2, GAST, GDPD1, GEMIN4, GFAP, GGA3, GGNBP2, GGT6, GH2, GID4, GIT1, GLTPD2, GNGT2, GOSR2, GP1BA, GPATCH8, GPR142, GPR179, GPRC5C, GRB7, GRIN2C, GSDMA, GSDMB, GUCY2D, HAP1, HDAC5, HELZ, HES7, HEXDC, HEXIM1, HGS, HID1, HIGD1B, HOXB1, HOXB7, HS3ST3A1, HSF5, HSPB9, ICT1, IFI35, IKZF3, INCA1, INTS2, ITGA2B, ITGA3, ITGAE, ITGB3, ITGB4, JUP, KANSL1, KAT7, KCNH6, KCNJ12, KDM6B, KIAA0100, KIAA0195, KIAA0753, KIF18B, KIF19, KIF1C, KIF2B, KLHL10, KLHL11, KPNA2, KRT10, KRT13, KRT14, KRT15, KRT16, KRT19, KRT23, KRT24, KRT25, KRT27, KRT28, KRT32, KRT34, KRT35, KRT36, KRT37, KRT40, KRT9, KRTAP1-1, KRTAP1-4, KRTAP16-1, KRTAP17-1, KRTAP29-1, KRTAP3-2, KRTAP3-3, KRTAP4-1, KRTAP4-11, KRTAP4-5, KRTAP4-7, KRTAP4-8, KRTAP9-1, KRTAP9-4, KRTAP9-6, KSR1, LASP1, LGALS3BP, LGALS9, LLGL1, LLGL2, LPO, LRRC37A2, LRRC48, LSMD1, LUC7L3, LYZL6, MAP2K3, MAP2K6, MAPT, MARCH10, MED13, MED24, METRNL, METTL2A, MFSD6L, MGAT5B, MINK1, MLLT6, MMP28, MNT, MPDU1, MPP2, MPRIP, MRC2, MRPL12, MRPL45, MRPS7, MTMR4, MXRA7, MYADML2, MYBBP1A, MYCBPAP, MYH1, MYH10, MYH13, MYH2, MYH3, MYH4, MYH8, MYO15A, MYO15B, MYO18A, MYO19, MYO1C, NACA2, NAGLU, NBR1, NDEL1, NEK8, NF1, NFE2L1, NLE1, NLGN2, NLRP1, NMT1, NOL11, NOS2, NPLOC4, NPTX1, NSF, NSRP1, NT5C3B, NUP85, ODF4, OGFOD3, OR1A1, OR1A2, OR1D5, OR1E1, OR1E2, OR3A1, OR3A2, OR3A3, OR4D1, OR4D2, OSBPL7, OTOP3, OXLD1, P2RX5, P4HB, PCTP, PELP1, PEMT, PER1, PFAS, PGAP3, PGS1, PIK3R5, PIK3R6, PITPNM3, PLCD3, PLD2, PLEKHM1, PLXDC1, PMP22, PNPO, POLDIP2, POLR2A, PRKCA, PRPF8, PRPSAP2, PSMB3, PSMB6, PSMC5, PSMD12, PTGES3L-AARSD1, PTRF, PYCR1, PYY, RAB11FIP4, RAI1, RAP1GAP2, RECQL5, RFNG, RGS9, RHBDF2, RHBDL3, RNF213, RNF222, RNF43, RNMTL1, RP11-1055B8.7, RP11-1407O15.2, RP11-477N12.3, RPA1, RPH3AL, RPTOR, RSAD1, RTN4RL1, RUNDC1, RUNDC3A, SAMD14, SAP30BP, SARM1, SAT2, SCARF1, SCIMP, SCN4A, SCRN2, SDK2, SEC14L1, SECTM1, SENP3, SEPT4, SEPT9, SERPINF1, SEZ6, SGSH, SGSM2, SHMT1, SHPK, SIRT7, SKAP1, SLC13A2, SLC16A13, SLC16A3, SLC16A5, SLC16A6, SLC25A10, SLC25A19, SLC25A39, SLC26A11, SLC2A4, SLC35G3, SLC39A11, SLC43A2, SLC46A1, SLC4A1, SLC52A1, SLC5A10, SLFN11, SLFN12, SLFN12L, SLFN13, SLFN14, SLFN5, SMCR8, SMG6, SMG8, SMTNL2, SMYD4, SNF8, SOCS7, SP2, SPATA20, SPATA22, SPATA32, SPDYE4, SPECC1, SPNS2, SPNS3, SPPL2C, SRCIN1, SREBF1, SRP68, SRSF2, SSH2, STARD3, STX8, STXBP4, SUPT6H, SYNGR2, SYNRG, TADA2A, TANC2, TAOK1, TAX1BP3, TBC1D16, TBC1D26, TBCD, TBX2, TBX4, TCAP, TEKT1, TEKT3, TEX14, TIMP2, TK1, TLCD1, TLCD2, TLK2, TM4SF5, TMC6, TMC8, TMEM107, TMEM256-PLSCR3, TMEM92, TMEM99, TNFRSF13B, TNFSF12, TNFSF12-TNFSF13, TNK1, TOB1, TOP3A, TP53, TRAF4, TRIM16L, TRIM25, TRPV1, TRPV2, TRPV3, TSEN54, TSPAN10, TSR1, TTLL6, TUBD1, TUBG2, TUSC5, TVP23B, UBBP4, UBE2O, UBE2Z, ULK2, UNC45B, UNK, USP22, USP36, USP6, UTP18, VMO1, VPS53, VTN, WDR16, WDR81, WFIKKN2, WIPI1, WSB1, WSCD1, XYLT2, ZACN, ZMYND15, ZNF286A, ZNF286B, ZNF594, ZNF652, ZNF750, ZNF830, ZPBP2, ZZEF1,

Genes at Omim

ABCA5, ACACA, ACE, ACOX1, ACTG1, AIPL1, AKAP10, ALDH3A2, ALOXE3, ARSG, ASPSCR1, AXIN2, B9D1, BRCA1, BRIP1, CACNA1G, CANT1, CARD14, CBX2, CCDC40, CCL2, CD79B, CDC6, CHRNB1, CHRNE, CLTC, CNTNAP1, COASY, COG1, COL1A1, COX10, CTC1, CTNS, DGKE, DLX4, DNAH9, DNAI2, DPH1, EFTUD2, ENO3, EPX, ERAL1, ERBB2, FAM20A, FDXR, FZD2, GAA, GEMIN4, GFAP, GOSR2, GP1BA, GPR179, GUCY2D, HES7, HOXB1, ITGA2B, ITGA3, ITGB3, ITGB4, JUP, KANSL1, KIAA0753, KIF1C, KLHL10, KRT10, KRT13, KRT14, KRT16, KRT25, KRT9, MAPT, MPDU1, MRPS7, MYH2, MYH3, MYH8, MYO15A, NAGLU, NEK8, NF1, NLRP1, NUP85, P4HB, PGAP3, PIK3R5, PITPNM3, PLEKHM1, PMP22, PNPO, PRKCA, PRPF8, PSMD12, PYCR1, RAI1, RGS9, RHBDF2, RNF213, RNF43, SCN4A, SEPT9, SERPINF1, SGSH, SHPK, SLC25A19, SLC46A1, SLC4A1, SLC52A1, SLFN14, TBCD, TBX2, TBX4, TCAP, TEX14, TLK2, TMC6, TMC8, TMEM107, TNFRSF13B, TOP3A, TP53, TRPV3, TSEN54, UNC45B, VPS53, WDR81, 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)
AKAP10 {Cardiac conduction defect, susceptibility to}, 115080 (3)
ALDH3A2 Sjogren-Larsson syndrome, 270200 (3)
ALOXE3 Ichthyosis, congenital, autosomal recessive 3, 606545 (3)
ARSG Usher syndrome, type IV, 618144 (3)
ASPSCR1 Alveolar soft-part sarcoma, 606243 (3)
AXIN2 Colorectal cancer, somatic, 114500 (3)
Oligodontia-colorectal cancer syndrome, 608615 (3)
B9D1 Joubert syndrome 27, 617120 (3)
?Meckel syndrome 9, 614209 (3)
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)
CHRNE Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3)
Myasthenic syndrome, congenital, 4B, fast-channel, 616324 (3)
Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 (3)
CLTC Mental retardation, autosomal dominant 56, 617854 (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)
DLX4 ?Orofacial cleft 15, 616788 (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)
ENO3 ?Glycogen storage disease XIII, 612932 (3)
EPX [Eosinophil peroxidase deficiency], 261500 (3)
ERAL1 Perrault syndrome 6, 617565 (3)
ERBB2 Adenocarcinoma of lung, somatic, 211980 (3)
Gastric cancer, somatic, 613659 (3)
Glioblastoma, somatic, 137800 (3)
Ovarian cancer, somatic, (3)
FAM20A Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 (3)
FDXR Auditory neuropathy and optic atrophy, 617717 (3)
FZD2 Omodysplasia 2, 164745 (3)
GAA Glycogen storage disease II, 232300 (3)
GEMIN4 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 (3)
GFAP Alexander disease, 203450 (3)
GOSR2 Epilepsy, progressive myoclonic 6, 614018 (3)
GP1BA Bernard-Soulier syndrome, type A1 (recessive), 231200 (3)
Bernard-Soulier syndrome, type A2 (dominant), 153670 (3)
{Nonarteritic anterior ischemic optic neuropathy, susceptibility to}, 258660 (3)
von Willebrand disease, platelet-type, 177820 (3)
GPR179 Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3)
GUCY2D Cone-rod dystrophy 6, 601777 (3)
Leber congenital amaurosis 1, 204000 (3)
?Choroidal dystrophy, central areolar 1, 215500 (3)
HES7 Spondylocostal dysostosis 4, autosomal recessive, 613686 (3)
HOXB1 Facial paresis, hereditary congenital, 3, 614744 (3)
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)
KIF1C Spastic ataxia 2, autosomal recessive, 611302 (3)
KLHL10 Spermatogenic failure 11, 615081 (3)
KRT10 Ichthyosis with confetti, 609165 (3)
Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)
Epidermolytic hyperkeratosis, 113800 (3)
KRT13 White sponge nevus 2, 615785 (3)
KRT14 Dermatopathia pigmentosa reticularis, 125595 (3)
Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3)
Epidermolysis bullosa simplex, Koebner type, 131900 (3)
Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3)
Epidermolysis bullosa simplex, recessive 1, 601001 (3)
Naegeli-Franceschetti-Jadassohn syndrome, 161000 (3)
KRT16 Pachyonychia congenita 1, 167200 (3)
Palmoplantar keratoderma, nonepidermolytic, focal, 613000 (3)
KRT25 Woolly hair, autosomal recessive 3, 616760 (3)
KRT9 Palmoplantar keratoderma, epidermolytic, 144200 (3)
MAPT Dementia, frontotemporal, with or without parkinsonism, 600274 (3)
{Parkinson disease, susceptibility to}, 168600 (3)
Pick disease, 172700 (3)
Supranuclear palsy, progressive atypical, 260540 (3)
Supranuclear palsy, progressive, 601104 (3)
MPDU1 Congenital disorder of glycosylation, type If, 609180 (3)
MRPS7 ?Combined oxidative phosphorylation deficiency 34, 617872 (3)
MYH2 Proximal myopathy and ophthalmoplegia, 605637 (3)
MYH3 Arthrogryposis, distal, type 2A, 193700 (3)
Arthrogryposis, distal, type 2B, 601680 (3)
Arthrogryposis, distal, type 8, 178110 (3)
MYH8 Carney complex variant, 608837 (3)
Trismus-pseudocamptodactyly syndrome, 158300 (3)
MYO15A Deafness, autosomal recessive 3, 600316 (3)
NAGLU Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3)
?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 (3)
NEK8 Renal-hepatic-pancreatic dysplasia 2, 615415 (3)
?Nephronophthisis 9, 613824 (3)
NF1 Leukemia, juvenile myelomonocytic, 607785 (3)
Neurofibromatosis, familial spinal, 162210 (3)
Neurofibromatosis, type 1, 162200 (3)
Neurofibromatosis-Noonan syndrome, 601321 (3)
Watson syndrome, 193520 (3)
NLRP1 Autoinflammation with arthritis and dyskeratosis, 617388 (3)
{Vitiligo-associated multiple autoimmune disease susceptibility 1}, 606579 (3)
Palmoplantar carcinoma, multiple self-healing, 615225 (3)
NUP85 Nephrotic syndrome, type 17, 618176 (3)
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)
PLEKHM1 Osteopetrosis, autosomal dominant 3, 618107 (3)
?Osteopetrosis, autosomal recessive 6, 611497 (3)
PMP22 Charcot-Marie-Tooth disease, type 1A, 118220 (3)
Charcot-Marie-Tooth disease, type 1E, 118300 (3)
Dejerine-Sottas disease, 145900 (3)
Neuropathy, recurrent, with pressure palsies, 162500 (3)
?Neuropathy, inflammatory demyelinating, 139393 (3)
Roussy-Levy syndrome, 180800 (3)
PNPO Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3)
PRKCA Pituitary tumor, invasive (3)
PRPF8 Retinitis pigmentosa 13, 600059 (3)
PSMD12 Stankiewicz-Isidor syndrome, 617516 (3)
PYCR1 Cutis laxa, autosomal recessive, type IIB, 612940 (3)
Cutis laxa, autosomal recessive, type IIIB, 614438 (3)
RAI1 Smith-Magenis syndrome, 182290 (3)
RGS9 Bradyopsia, 608415 (3)
RHBDF2 Tylosis with esophageal cancer, 148500 (3)
RNF213 {Moyamoya disease 2, susceptibility to}, 607151 (3)
RNF43 Sessile serrated polyposis cancer syndrome, 617108 (3)
SCN4A Hyperkalemic periodic paralysis, type 2, 170500 (3)
Hypokalemic periodic paralysis, type 2, 613345 (3)
Myasthenic syndrome, congenital, 16, 614198 (3)
Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3)
Paramyotonia congenita, 168300 (3)
SEPT9 Amyotrophy, hereditary neuralgic, 162100 (3)
Leukemia, acute myeloid, therapy-related (1)
Ovarian carcinoma (1)
SERPINF1 Osteogenesis imperfecta, type VI, 613982 (3)
SGSH Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900 (3)
SHPK [Sedoheptulokinase deficiency], 617213 (3)
SLC25A19 Microcephaly, Amish type, 607196 (3)
Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (3)
SLC46A1 Folate malabsorption, hereditary, 229050 (3)
SLC4A1 Cryohydrocytosis, 185020 (3)
Ovalocytosis, SA type, 166900 (3)
Renal tubular acidosis, distal, AD, 179800 (3)
Renal tubular acidosis, distal, AR, 611590 (3)
Spherocytosis, type 4, 612653 (3)
[Blood group, Diego], 110500 (3)
[Blood group, Froese], 601551 (3)
[Blood group, Swann], 601550 (3)
[Blood group, Waldner], 112010 (3)
[Blood group, Wright], 112050 (3)
[Malaria, resistance to], 611162 (3)
SLC52A1 Riboflavin deficiency, 615026 (3)
SLFN14 Bleeding disorder, platelet-type, 20, 616913 (3)
TBCD Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3)
TBX2 Vertebral anomalies and variable endocrine and T-cell dysfunction, 618223 (3)
TBX4 Ischiocoxopodopatellar syndrome, 147891 (3)
TCAP Cardiomyopathy, hypertrophic, 25, 607487 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 7, 601954 (3)
TEX14 ?Spermatogenic failure 23, 617707 (3)
TLK2 Mental retardation, autosomal dominant 57, 618050 (3)
TMC6 Epidermodysplasia verruciformis, 226400 (3)
TMC8 Epidermodysplasia verruciformis 2, 618231 (3)
TMEM107 Meckel syndrome 13, 617562 (3)
Orofaciodigital syndrome XVI, 617563 (3)
?Joubert syndrome 29, 617562 (3)
TNFRSF13B Immunodeficiency, common variable, 2, 240500 (3)
Immunoglobulin A deficiency 2, 609529 (3)
TOP3A Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097 (3)
?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 (3)
TP53 {Glioma susceptibility 1}, 137800 (3)
Bone marrow failure syndrome 5, 618165 (3)
Breast cancer, somatic, 114480 (3)
Hepatocellular carcinoma, somatic, 114550 (3)
{Osteosarcoma}, 259500 (3)
Li-Fraumeni syndrome, 151623 (3)
Nasopharyngeal carcinoma, somatic, 607107 (3)
Pancreatic cancer, somatic 260350 (3)
{Adrenocortical carcinoma, pediatric}, 202300 (3)
{Basal cell carcinoma 7}, 614740 (3)
{Choroid plexus papilloma}, 260500 (3)
{Colorectal cancer}, 114500 (3)
TRPV3 Olmsted syndrome, 614594 (3)
?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400 (3)
TSEN54 Pontocerebellar hypoplasia type 2A, 277470 (3)
Pontocerebellar hypoplasia type 4, 225753 (3)
?Pontocerebellar hypoplasia type 5, 610204 (3)
UNC45B ?Cataract 43, 616279 (3)
VPS53 Pontocerebellar hypoplasia, type 2E, 615851 (3)
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)
Hydrocephalus, congenital, 3, with brain anomalies, 617967 (3)
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, ALDH3A2, ALOXE3, AXIN2, B9D1, BRCA1, BRIP1, CACNA1G, CANT1, CARD14, CBX2, CCDC137, CCDC40, CD79B, CDC6, CHRNB1, CHRNE, CNTNAP1, COASY, COG1, COL1A1, COX10, CTC1, CTNS, DGKE, DLX4, DNAI2, DPH1, EFTUD2, ENO3, EPX, FAM20A, GAA, GFAP, GOSR2, GP1BA, GPR179, GUCY2D, HES7, HOXB1, ITGA2B, ITGA3, ITGB3, ITGB4, JUP, KANSL1, KIF1C, KLHL10, KRT10, KRT13, KRT14, KRT16, KRT25, KRT9, MAPT, MPDU1, MYH2, MYH3, MYH8, MYO15A, NAGLU, NEK8, NF1, NLRP1, P4HB, PGAP3, PIK3R5, PITPNM3, PLEKHM1, PMP22, PNPO, PRPF8, PTRF, PYCR1, RAI1, RGS9, RHBDF2, RNF213, SCN4A, SEPT9, SERPINF1, SGSH, SLC25A19, SLC46A1, SLC4A1, SLC52A1, SLFN14, TBX4, TCAP, TMC6, TMC8, TNFRSF13B, TP53, TRPV3, TSEN54, UNC45B, VPS53, WDR81, 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
ALDH3A2 Sjogren-Larsson syndrome
ALOXE3 Ichthyosiform erythroderma, congenital, nonbullous, 1
AXIN2 Oligodontia-colorectal cancer syndrome
B9D1 Meckel syndrome 9
BRCA1 Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
BRIP1 Breast cancer
Fanconi anemia, complementation group J
CACNA1G Spinocerebellar ataxia 42
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
CHRNE Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
Myasthenic syndrome, fast-channel congenital
Myasthenic syndrome, slow-channel congenital
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
DLX4 Orofacial cleft 15
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
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
GP1BA Bernard-Soulier syndrome, type A2
Bernard-Soulier syndrome, type A1
Pseudo-von Willebrand disease
GPR179 Night blindness, congenital stationary, type 1E
GUCY2D Cone-rod dystrophy 6
Leber congenital amaurosis, type 1
Cone-Rod dystrophy, autosomal recessive
HES7 Spondylocostal dysostosis 4, autosomal recessive
HOXB1 Facial paresis, hereditary congenital, 3
ITGA2B Glanzmann thrombasthenia
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
KIF1C Spastic ataxia 2, autosomal recessive
KLHL10 Spermatogenic failure 11
KRT10 Erythroderma, ichthyosiform, congenital reticular
Aaru disease
Ichthyosis, cyclic, with epidermolytic hyperkeratosis
Epidermolytic hyperkeratosis
Ichthyosis with confetti
KRT13 White sponge nevus 2
KRT14 Epidermolysis bullosa simplex, autosomal recessive
Naegeli-Franceschetti-Jadassohn syndrome
Dermatopathia pigmentosa reticularis
Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex, Weber-Cockayne type
Epidermolysis bullosa simplex, Dowling-Meara type
KRT16 Palmoplantar keratoderma, nonepidermolytic, focal
Pachyonychia congenita 1
KRT25 Woolly hair, autosomal recessive 3
KRT9 Palmoplantar keratoderma, epidermolytic
Knuckle pads
MAPT Supranuclear palsy, progressive
Frontotemporal dementia
Parkinson-dementia sydnrome
Pick disease
MPDU1 Congenital disorder of glycosylation, type If
MYH2 Inclusion body myopathy 3
MYH3 Arthrogryposis, distal, type 2A
Arthyrgryposis, distal, type 2B
Arthrogryposis, distal, type 8
MYH8 Carney complex variant
Arthrogryposis, distal, type 7
Trismus-pseudocamptodactyly syndrome
MYO15A Deafness, autosomal recessive 3
NAGLU Mucopolysaccharidosis type IIIB (Sanfilippo syndrome B)
NEK8 Nephronophthisis 9
NF1 Neurofibromatosis type 1, Neurofibromatosis-Noonan syndrome
Watson syndrome
NLRP1 Corneal intraepithelial dyskeratosis and ectodermal dysplasia
P4HB Cole Carpenter syndrome 1
PGAP3 Hyperphosphatasia with mental retardation syndrome 4
PIK3R5 Ataxia-oculomotor apraxia 3
PITPNM3 Cone-rod dystrophy 5
PLEKHM1 Osteopetrosis, autosomal recessive 6
PMP22 Roussy-Levy syndrome
Charcot-Marie-Tooth syndrome, type 1A
Charcot-Marie-Tooth syndrome with deafness (type 1E)
Neuropathy, hereditary, with liability to pressurve palsies
Dejerine-Sottas disease
Neuropathy, inflammatory demyelinating
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
PRPF8 Retinitis pigmentosa 13
PTRF Lipodystrophy, congenital generalized, type 4
PYCR1 Cutis laxa, autosomal recessive, type IIB
Cutis laxa, autosomal recessive type IIIB
RAI1 Smith-Magenis syndrome
RGS9 Bradyopsia
RHBDF2 Tylosis with esophageal cancer
RNF213 Moyamoya disease 2
SCN4A Paramyotonia congenita
Hyperkalemic periodic paralysis, type 2
Hypokalemic periodic paralysis, type 2
Normokalemic potassium-sensitive periodic paralysis
Malignant hyperthermia, susceptibility to
Myasthenic syndrome, congenital, 16
Myotonia, potassium-aggravated
SEPT9 Amyotrophy, hereditary neuralgic
SERPINF1 Osteogenesis imperfecta, type VI
SGSH Mucopolysaccharidosis type IIIA (Sanfilippo syndrome A)
SLC25A19 Thiamine metabolism dysfunction syndrome 4
Microcephaly, Amish type
SLC46A1 Folate malabsorption, hereditary
SLC4A1 Spherocytosis, type 4
Ovalcytosis, Southeast Asian
Cryohydrocytosis
Renal tubular acidosis, distal, with hemolytic anemia
Renal tubular acidosis, distal, autosomal dominant
Renal tubular acidosis, distal, autosomal recessive
Blood group, Wright
Blood group, Waldner
Blood group, Diego
Blood group, Froese
Blood group, Swann
SLC52A1 Maternal riboflavin deficiency
SLFN14 Bleeding disorder, platelet-type, 20
TBX4 Small patella syndrome
TCAP Cardiomyopathy, dilated, 1N
Cardiomyopathy, familial hypertrophic 25
Muscular dystrophy, limb-girdle, type 2G
TMC6 Epidermodysplasia verruciformis
TMC8 Epidermodysplasia verruciformis
TNFRSF13B Immunoglobulin A deficiency 2
Common variable immunodeficiency 2
TP53 Li-Fraumeni syndrome
Choroid plexus papilloma
Ependymoma, intracranial
Osteogenic sarcoma
Breast cancer, familial
Hepatoblastoma
Non-Hodgkin lymphoma
Adrenocortical carcinoma
Colorectal cancer
TRPV3 Olmsted syndrome
Palmoplantar keratoderma, nonepidermolytic focal 2
TSEN54 Pontocerebellar hypoplasia, type 2A
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 5
UNC45B Cataract 43
VPS53 Pontocerebellar hypoplasia, type 2E
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
ZMYND15 Spermatogenic failure 14
ZNF750 Seborrhea-like dermatitis with psoriasiform elements

Genes at HGMD

Summary

Number of Variants: 4048
Number of Genes: 582

Export to: CSV

AATF

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs1045056
dbSNP Clinvar
35346641 835.77 T C PASS 1/1 30 SYNONYMOUS_CODING LOW None 0.15675 0.15670 0.24273 None None None None None None AATF|0.980408321|1.45%

AATK

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs7503604
dbSNP Clinvar
79095629 45.41 C A PASS 1/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.55651 0.55650 0.46455 0.17 0.00 None None None None None None AATK|0.00450864|86.39%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs8073904
dbSNP Clinvar
79095144 185.77 G A PASS 0/1 14 SYNONYMOUS_CODING LOW None 0.80531 0.80530 0.14925 None None None None None None AATK|0.00450864|86.39%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs139267162
dbSNP Clinvar
79100340 152.77 C T PASS 0/1 10 SYNONYMOUS_CODING LOW None 0.00559 0.00559 0.00819 None None None None None None AATK|0.00450864|86.39%

ABCA10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs113082690
dbSNP Clinvar
67190536 180.73 AACAG A PASS 0/1 63 FRAME_SHIFT HIGH None 0.08846 0.08846 0.07313 None None None None None None ABCA10|0.002179826|90.49%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs3842375
dbSNP Clinvar
67145190 595.73 TGA T PASS 0/1 79 FRAME_SHIFT HIGH None 0.08806 0.08806 0.06023 None None None None None None ABCA10|0.002179826|90.49%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs16973656
dbSNP Clinvar
67150118 1078.77 C T PASS 0/1 129 SYNONYMOUS_CODING LOW None 0.08786 0.08786 0.06005 None None None None None None ABCA10|0.002179826|90.49%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs4968849
dbSNP Clinvar
67178316 640.77 A G PASS 1/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.71126 0.71130 0.24304 1.00 0.00 None None None None None None ABCA10|0.002179826|90.49%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs12941264
dbSNP Clinvar
67215712 72.77 C T PASS 0/1 27 SYNONYMOUS_CODING LOW None 0.59844 0.59840 0.32759 None None None None None None ABCA10|0.002179826|90.49%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs10491178
dbSNP Clinvar
67149973 493.77 G A PASS 0/1 56 STOP_GAINED+SPLICE_SITE_REGION HIGH None 0.08866 0.08866 0.06005 None None None None None None ABCA10|0.002179826|90.49%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs9909216
dbSNP Clinvar
67212423 513.77 G A PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.58067 0.58070 0.34515 0.03 0.00 None None None None None None ABCA10|0.002179826|90.49%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs11077414
dbSNP Clinvar
67212031 1866.77 A G PASS 0/1 186 SYNONYMOUS_CODING LOW None 0.06470 0.47140 0.42465 None None None None None None ABCA10|0.002179826|90.49%

ABCA5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs536009
dbSNP Clinvar
67273882 1343.77 C A PASS 1/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.80172 0.80170 0.22177 0.62 0.00 None None None None None None ABCA5|0.269145961|29.93%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs557491
dbSNP Clinvar
67267317 859.77 T C PASS 0/1 83 NON_SYNONYMOUS_CODING MODERATE None 0.49740 0.49740 0.45794 0.49 0.00 None None None None None None ABCA5|0.269145961|29.93%

ABCA6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 . 67085625 573.73 TC T VQSRTrancheINDEL99.90to100.00 0/1 144 FRAME_SHIFT HIGH None None None None None None None ABCA6|0.006278632|84.32%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs9282554
dbSNP Clinvar
67109833 817.77 T A PASS 0/1 92 NON_SYNONYMOUS_CODING MODERATE None 0.09345 0.09345 0.05774 0.16 0.39 None None None None None None ABCA6|0.006278632|84.32%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs4968839
dbSNP Clinvar
67125840 1320.77 C T PASS 1/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.55511 0.55510 0.40099 0.35 0.00 None None None None None None ABCA6|0.006278632|84.32%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 . 67085630 556.73 G GT VQSRTrancheINDEL99.90to100.00 0/1 144 FRAME_SHIFT HIGH None None None None None None None ABCA6|0.006278632|84.32%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 . 67085628 625.77 G C VQSRTrancheSNP99.90to100.00 0/1 144 NON_SYNONYMOUS_CODING MODERATE None 0.79 0.00 None None None None None None ABCA6|0.006278632|84.32%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs2302134
dbSNP Clinvar
67081830 725.77 T C PASS 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.45986 0.45990 0.48539 0.16 0.45 None None None None None None ABCA6|0.006278632|84.32%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs9282553
dbSNP Clinvar
67108362 836.77 C G PASS 0/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.20767 0.20770 0.17292 0.02 0.00 None None None None None None ABCA6|0.006278632|84.32%

ABCA8

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 . 66920958 151.73 C CTCA VQSRTrancheINDEL99.90to100.00 0/1 162 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None ABCA8|0.008754907|81.9%

ABCA9

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs1860447
dbSNP Clinvar
67031457 1675.77 C T PASS 0/1 142 NON_SYNONYMOUS_CODING MODERATE None 0.85783 0.85780 0.14363 0.90 0.00 None None None None None None ABCA9|0.017284198|75.69%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 . 67014706 36.73 C CCGCA PASS 0/1 44 FRAME_SHIFT HIGH None None None None None None None ABCA9|0.017284198|75.69%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 . 67014701 36.73 TAATA T PASS 0/1 47 FRAME_SHIFT HIGH None None None None None None None ABCA9|0.017284198|75.69%

ABCC3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs12604031
dbSNP Clinvar
48712705 237.77 G A PASS 0/1 24 None None None 0.76378 0.76380 0.00 None None None None None None ABCC3|0.044769991|64.26%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs9890046
dbSNP Clinvar
48712711 192.77 C G PASS 0/1 24 None None None 0.87740 0.87740 0.00 None None None None None None ABCC3|0.044769991|64.26%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs11568591
dbSNP Clinvar
48761053 480.77 G A PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.01977 0.01977 0.04744 0.00 1.00 None None None None None None ABCC3|0.044769991|64.26%

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs542939
dbSNP Clinvar
27889986 3047.77 T C PASS 1/1 97 NON_SYNONYMOUS_CODING MODERATE None 0.76797 0.76800 0.30571 1.00 0.03 None None None None None None ABHD15|0.102676834|50.66%

ABI3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs616338
dbSNP Clinvar
47297297 72.1 T C PASS 1/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.99840 0.99840 0.00701 1.00 0.00 None None None None None None ABI3|0.032000436|68.63%

ABR

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs2262150
dbSNP Clinvar
970413 1302.77 C T PASS 1/1 42 SYNONYMOUS_CODING LOW None 0.89697 0.89700 0.13425 None None None None None None ABR|0.634601907|10.64%

AC006435.1

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs4613098
dbSNP Clinvar
2318550 1891.77 G C PASS 0/1 167 NON_SYNONYMOUS_CODING MODERATE None 0.46166 0.46170 0.37496 0.00 None None None None None None METTL16|0.27183769|29.76%

AC061992.1

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs4969188
dbSNP Clinvar
76422473 98.03 T C PASS 1/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.76617 0.76620 0.00 None None None None None None DNAH17|0.043900967|64.55%

AC087645.1

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs17885521
dbSNP Clinvar
76219685 281.77 G C PASS 0/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.00539 0.00539 0.00884 0.00 0.74 None None None None None None BIRC5|0.935922721|2.64%

ACACA

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs58654829
dbSNP Clinvar
35696804 373.77 G A PASS 1/1 13 SYNONYMOUS_CODING LOW None 0.58546 0.58550 0.34776 None None None None None None ACACA|0.94269074|2.39%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs1470452
dbSNP Clinvar
35478362 2332.77 T C PASS 1/1 75 SYNONYMOUS_CODING LOW None 1.00000 1.00000 0.00108 None None None None None None ACACA|0.94269074|2.39%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs2229416
dbSNP Clinvar
35609866 1248.77 C T PASS 0/1 100 SYNONYMOUS_CODING LOW None 0.21985 0.21980 0.09726 None None None None None None ACACA|0.94269074|2.39%

ACAP1

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs35933585
dbSNP Clinvar
7245357 727.77 C T PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.01518 0.01518 0.01753 0.02 0.15 None None None None None None ACAP1|0.086299912|53.89%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs4796407
dbSNP Clinvar
7245371 276.77 A G PASS 0/1 35 SYNONYMOUS_CODING LOW None 0.31490 0.31490 0.40697 None None None None None None ACAP1|0.086299912|53.89%

ACE

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs4362
dbSNP Clinvar
61573761 371.77 T C PASS 0/1 34 SYNONYMOUS_CODING LOW None 0.58746 0.58750 0.49470 None None None None None None ACE|0.894558224|3.56%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs4343
dbSNP Clinvar
61566031 1318.77 G A PASS 0/1 134 SYNONYMOUS_CODING LOW None 0.64317 0.64320 0.43987 None None None None None None ACE|0.894558224|3.56%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs4309
dbSNP Clinvar
61559923 803.77 C T PASS 0/1 67 SYNONYMOUS_CODING LOW None 0.42352 0.42350 0.33569 None None None None None None ACE|0.894558224|3.56%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs4316
dbSNP Clinvar
61562309 332.77 C T PASS 0/1 28 SYNONYMOUS_CODING LOW None 0.51917 0.51920 0.42675 None None None None None None ACE|0.894558224|3.56%

ACLY

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs8065502
dbSNP Clinvar
40048613 2988.77 A G PASS 1/1 100 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.90435 0.90440 0.12479 None None None None None None ACLY|0.44685425|18.3%

ACOX1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs1135640
dbSNP Clinvar
73949540 1099.77 G C PASS 1/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.55072 0.55070 0.49131 0.17 0.01 None None None None None None ACOX1|0.181440529|38.86%

ACSF2

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs2305998
dbSNP Clinvar
48549791 175.77 C G PASS 0/1 38 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.18570 0.18570 0.24427 None None None None None None ACSF2|0.036236332|67.04%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs9674937
dbSNP Clinvar
48539035 577.77 T C PASS 0/1 86 SYNONYMOUS_CODING LOW None 0.34405 0.34400 0.37667 None None None None None None ACSF2|0.036236332|67.04%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 . 48540605 576.77 A C PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.31 0.01 None None None None None None ACSF2|0.036236332|67.04%

ACTG1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs1139405
dbSNP Clinvar
79478019 411.77 G A PASS 1/1 16 SYNONYMOUS_CODING LOW None 0.75619 0.75620 0.24543 None None None None None None ACTG1|0.983116739|1.38%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs117809695
dbSNP Clinvar
79478806 431.77 G T PASS 0/1 38 None None None 0.00879 0.00879 0.56 0.00 None None None None None None ACTG1|0.983116739|1.38%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs1135989
dbSNP Clinvar
79478007 91.77 G A PASS 0/1 16 SYNONYMOUS_CODING LOW None 0.18530 0.18530 0.31639 None None None None None None ACTG1|0.983116739|1.38%

ADAM11

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs8075210
dbSNP Clinvar
42854610 109.77 T C PASS 0/1 21 SYNONYMOUS_CODING LOW None 0.64537 0.64540 0.41973 None None None None None None ADAM11|0.131633893|45.66%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs1558084
dbSNP Clinvar
42852610 444.77 T C PASS 0/1 39 SYNONYMOUS_CODING LOW None 0.90495 0.90500 0.10518 None None None None None None ADAM11|0.131633893|45.66%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs1558083
dbSNP Clinvar
42852604 444.77 G T PASS 0/1 34 SYNONYMOUS_CODING LOW None 0.64557 0.64560 0.41950 None None None None None None ADAM11|0.131633893|45.66%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs2070605
dbSNP Clinvar
42855554 334.77 T C PASS 0/1 48 SYNONYMOUS_CODING LOW None 0.64537 0.64540 0.41996 None None None None None None ADAM11|0.131633893|45.66%

ADPRM

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs406446
dbSNP Clinvar
10614442 1242.77 A G PASS 0/1 107 NON_SYNONYMOUS_CODING MODERATE None 0.48722 0.48720 0.48770 0.09 0.04 None None None None None None ADPRM|0.084888375|54.22%,TMEM220|0.046283396|63.81%

AIPL1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs2292546
dbSNP Clinvar
6330068 1131.77 T C PASS 0/1 95 SYNONYMOUS_CODING LOW None 0.71366 0.71370 0.26134 None None None None None None AIPL1|0.064852727|58.69%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs8075035
dbSNP Clinvar
6331803 284.77 T C PASS 0/1 52 SYNONYMOUS_CODING LOW None 0.57588 0.57590 0.39474 None None None None None None AIPL1|0.064852727|58.69%

AKAP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs2230772
dbSNP Clinvar
55183203 1620.77 T C PASS 0/1 162 SYNONYMOUS_CODING LOW None 0.47824 0.47820 0.39136 None None None None None None AKAP1|0.039700237|65.85%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs1050515
dbSNP Clinvar
55183716 201.77 T C PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.59066 0.59070 0.45917 None None None None None None AKAP1|0.039700237|65.85%

AKAP10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs2108978
dbSNP Clinvar
19861458 1830.77 C T PASS 0/1 163 NON_SYNONYMOUS_CODING MODERATE None 0.38958 0.38960 0.44495 0.74 0.00 None None None None None None AKAP10|0.479048269|16.82%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs203462
dbSNP Clinvar
19812541 2814.77 T C PASS 0/1 233 NON_SYNONYMOUS_CODING MODERATE None 0.39397 0.39400 0.45041 1.00 0.00 None None None None None None AKAP10|0.479048269|16.82%

ALDH3A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs887241
dbSNP Clinvar
19645938 2664.77 A C PASS 1/1 89 NON_SYNONYMOUS_CODING MODERATE None 0.74461 0.74460 0.34669 0.88 0.00 None None None None None None ALDH3A1|0.032163878|68.52%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs2072330
dbSNP Clinvar
19644472 2230.77 A T PASS 1/1 70 SYNONYMOUS_CODING LOW None 0.29074 0.29070 0.30186 None None None None None None ALDH3A1|0.032163878|68.52%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs142078447
dbSNP Clinvar
19643699 1299.77 C T PASS 0/1 106 NON_SYNONYMOUS_CODING MODERATE None 0.00359 0.00359 0.00684 0.14 0.06 None None None None None None ALDH3A1|0.032163878|68.52%

ALDH3A2

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs7216
dbSNP Clinvar
19578873 5573.77 A T PASS 1/1 177 SPLICE_SITE_REGION LOW None 0.67851 0.67850 0.44933 None None None None None None ALDH3A2|0.089181599|53.41%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs1800869
dbSNP Clinvar
19564634 2867.77 C G PASS 1/1 91 None None None 0.22784 0.22780 0.83 None None None None None None ALDH3A2|0.089181599|53.41%

ALOX12

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs1042356
dbSNP Clinvar
6902743 1357.77 G A PASS 0/1 117 SYNONYMOUS_CODING LOW None 0.60184 0.60180 0.39466 None None None None None None ALOX12|0.072773622|56.83%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs312462
dbSNP Clinvar
6913652 2197.77 G A PASS 0/1 192 SYNONYMOUS_CODING LOW None 0.11921 0.11920 0.08873 None None None None None None ALOX12|0.072773622|56.83%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs1042357
dbSNP Clinvar
6905061 558.77 T G PASS 0/1 119 SYNONYMOUS_CODING LOW None 0.57228 0.57230 0.42734 None None None None None None ALOX12|0.072773622|56.83%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs756015263
dbSNP Clinvar
6902070 299.77 C T PASS 0/1 34 SYNONYMOUS_CODING LOW None None None None None None None ALOX12|0.072773622|56.83%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs434473
dbSNP Clinvar
6904934 726.77 A G PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.34125 0.34130 0.34507 0.81 0.00 None None None None None None ALOX12|0.072773622|56.83%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs1126667
dbSNP Clinvar
6902760 1034.77 A G PASS 0/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.60403 0.60400 0.39190 0.40 0.01 None None None None None None ALOX12|0.072773622|56.83%

ALOX15

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs743646
dbSNP Clinvar
4536241 1204.77 T C PASS 1/1 42 SYNONYMOUS_CODING LOW None 0.04633 0.04633 0.08811 None None None None None None ALOX15|0.017879585|75.36%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs11568142
dbSNP Clinvar
4542794 570.77 C G PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.00439 0.00439 0.00531 0.01 0.54 None None None None None None ALOX15|0.017879585|75.36%

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs6503070
dbSNP Clinvar
7948175 304.77 C T PASS 0/1 23 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.59724 0.59720 0.44572 None None None None None None ALOX15B|0.008183706|82.49%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs9904554
dbSNP Clinvar
7951149 132.77 C T PASS 0/1 51 SYNONYMOUS_CODING LOW None 0.11981 0.11980 0.09450 None None None None None None ALOX15B|0.008183706|82.49%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs4792147
dbSNP Clinvar
7951819 479.77 A G PASS 0/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.65036 0.65040 0.39520 0.46 0.00 None None None None None None ALOX15B|0.008183706|82.49%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs7225107
dbSNP Clinvar
7951878 744.77 A G PASS 0/1 79 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.10723 0.10720 0.08035 0.05 0.34 None None None None None None ALOX15B|0.008183706|82.49%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs9898751
dbSNP Clinvar
7950952 274.77 C A PASS 0/1 20 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.44748 0.44750 0.44649 None None None None None None ALOX15B|0.008183706|82.49%

ALOXE3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs3809881
dbSNP Clinvar
7999957 333.77 G A PASS 0/1 30 SYNONYMOUS_CODING LOW None 0.42472 0.42470 0.36845 None None None None None None ALOXE3|0.073088496|56.77%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs3027229
dbSNP Clinvar
8021608 1852.77 G C PASS 0/1 163 NON_SYNONYMOUS_CODING MODERATE None 0.14357 0.14360 0.02 0.02 None None None None None None ALOXE3|0.073088496|56.77%

AMZ2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs3213690
dbSNP Clinvar
66246416 1068.77 A G PASS 1/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.79792 0.79790 0.24127 1.00 0.00 None None None None None None AMZ2|0.012004494|79.24%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs7105
dbSNP Clinvar
66253095 367.77 T A PASS 0/1 33 SYNONYMOUS_CODING LOW None 0.37061 0.37060 0.31332 None None None None None None AMZ2|0.012004494|79.24%

ANKFN1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs10852985
dbSNP Clinvar
54534634 956.77 G A PASS 1/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.75160 0.75160 0.30403 0.16 0.08 None None None None None None ANKFN1|0.698610051|8.53%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs957724
dbSNP Clinvar
54450038 255.77 C A PASS 0/1 33 SYNONYMOUS_CODING LOW None 0.61562 0.61560 0.46432 None None None None None None ANKFN1|0.698610051|8.53%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs8069322
dbSNP Clinvar
54450134 1046.77 G A PASS 0/1 94 SYNONYMOUS_CODING LOW None 0.67232 0.67230 0.39474 None None None None None None ANKFN1|0.698610051|8.53%

ANKFY1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs3744671
dbSNP Clinvar
4109722 1275.77 G A PASS 0/1 105 SYNONYMOUS_CODING LOW None 0.09884 0.09884 0.09817 None None None None None None ANKFY1|0.171100968|40.16%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs2020118
dbSNP Clinvar
4088291 275.89 C T PASS 0/1 13 SYNONYMOUS_CODING LOW None 0.77436 0.77440 0.20761 None None None None None None CYB5D2|0.023633765|72.36%,ANKFY1|0.171100968|40.16%

APOH

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs4581
dbSNP Clinvar
64210757 780.77 C A PASS 0/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.54153 0.54150 0.32969 0.69 0.00 None None None None None None APOH|0.076233012|56.02%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs150179394
dbSNP Clinvar
64219877 1368.77 G A PASS 0/1 134 SYNONYMOUS_CODING LOW None 0.00020 0.00020 0.00015 None None None None None None APOH|0.076233012|56.02%

APPBP2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs751155773
dbSNP Clinvar
58543691 589.77 T C PASS 0/1 69 SYNONYMOUS_CODING LOW None None None None None None None APPBP2|0.653501332|9.96%

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs9891156
dbSNP Clinvar
36646386 393.77 A G PASS 1/1 13 SYNONYMOUS_CODING LOW None 0.99082 0.99080 0.02015 None None None None None None ARHGAP23|0.124657713|46.71%

ARHGAP27

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs2959953
dbSNP Clinvar
43507008 137.85 G C PASS 1/1 6 NON_SYNONYMOUS_CODING MODERATE None 0.61961 0.61960 0.27764 1.00 0.00 None None None None None None ARHGAP27|0.041158202|65.39%

ARHGAP44

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs3213687
dbSNP Clinvar
12862170 1191.77 C T PASS 0/1 98 SYNONYMOUS_CODING LOW None 0.08107 0.08107 0.06554 None None None None None None ARHGAP44|0.164173039|41.01%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs2072254
dbSNP Clinvar
12852459 391.77 A G PASS 0/1 73 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.10523 0.10520 0.06972 None None None None None None ARHGAP44|0.164173039|41.01%

ARHGEF15

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs3744651
dbSNP Clinvar
8215534 1970.77 C T PASS 0/1 173 SYNONYMOUS_CODING LOW None 0.41693 0.41690 0.34769 None None None None None None ARHGEF15|0.03636471|66.99%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs3744647
dbSNP Clinvar
8224276 1053.77 T C PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.57788 0.57790 0.35699 1.00 0.00 None None None None None None ARHGEF15|0.03636471|66.99%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs871841
dbSNP Clinvar
8216468 1071.77 T C PASS 0/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.62101 0.62100 0.43657 1.00 0.00 None None None None None None ARHGEF15|0.03636471|66.99%

ARRB2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs1045280
dbSNP Clinvar
4622638 4001.77 C T PASS 1/1 137 SYNONYMOUS_CODING LOW None 0.66953 0.66950 0.40051 None None None None None None ARRB2|0.726219786|7.8%