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Genes:
AATF, AATK, ABCA10, ABCA5, ABCA6, ABCA8, ABCA9, ABCC3, ABHD15, ABI3, AC005544.1, AC090616.2, AC129492.6, ACACA, ACAP1, ACE, ACOX1, ACSF2, ADAM11, ADPRM, AIPL1, AKAP1, AKAP10, ALDH3A1, ALKBH5, ALOX12, ALOX15B, ALOXE3, AMZ2, ANKFN1, ANKFY1, APOH, ARHGAP44, ARL16, ARL5C, ARSG, ASB16, ASGR1, ASGR2, ASIC2, ASPA, ATAD5, ATP2A3, AXIN2, B3GNTL1, B4GALNT2, B9D1, BAIAP2, BLMH, BRCA1, C17orf102, C17orf104, C17orf107, C17orf112, C17orf50, C17orf53, C17orf58, C17orf59, C17orf64, C17orf66, C17orf77, C17orf78, C17orf80, C17orf82, C17orf98, C17orf99, C1QTNF1, CA10, CACNA1G, CACNG1, CACNG5, CAMKK1, CAMTA2, CANT1, CARD14, CASKIN2, CBX1, CBX2, CBX8, CCDC137, CCDC144A, CCDC182, CCDC40, CCDC57, CCL11, CCL2, CCL3, CCL4, CCL7, CCT6B, CD300A, CD300E, CD300LB, CD300LD, CD300LF, CD79B, CDK5R1, CDR2L, CDRT4, CEP112, CHAD, CHD3, CLDN7, CLEC10A, CLUH, CNP, CNTNAP1, CNTROB, COASY, COG1, COX10, COX11, CPD, CRK, CRLF3, CRYBA1, CSF3, CSHL1, CTB-96E2.2, CTC1, CXCL16, CYB5D1, CYGB, DBF4B, DCAKD, DCXR, DDC8, DDX52, DHX33, DLG4, DLX3, DLX4, DNAH17, DNAH17-AS1, DNAH2, DNAH9, DNAI2, DRG2, EFCAB13, ELAC2, ENDOV, ENGASE, ENO3, ENPP7, EPN2, EPN3, ERBB2, ERN1, FADS6, FAM104A, FAM187A, FAM20A, FAM211A, FAM222B, FAM57A, FAM83G, FASN, FBXO39, FDXR, FLII, FMNL1, FN3K, FNDC8, FTSJ3, G6PC3, GAA, GAS2L2, GAST, GCGR, GEMIN4, GFAP, GGA3, GGNBP2, GGT6, GID4, GIT1, GLP2R, GLTPD2, GOSR2, GP1BA, GPATCH8, GPR142, GPS1, GPS2, GRIN2C, GRN, GSDMA, GSDMB, GSG2, GUCY2D, HAP1, HEATR6, HELZ, HES7, HEXIM1, HGS, HIC1, HID1, HIGD1B, HOXB13, HOXB7, HS3ST3A1, ICT1, IKZF3, ITGA2B, ITGA3, ITGAE, ITGB3, ITGB4, JUP, KANSL1, KCNJ12, KDM6B, KIAA0100, KIAA0195, KIAA0753, KIF18B, KIF19, KIF1C, KIF2B, KPNA2, KPNB1, KRBA2, KRT10, KRT12, KRT14, KRT23, KRT25, KRT26, KRT27, KRT28, KRT32, KRT35, KRT36, KRT37, KRT39, KRT40, KRTAP1-1, KRTAP1-3, KRTAP1-4, KRTAP1-5, KRTAP2-2, KRTAP3-1, KRTAP3-2, KRTAP4-16P, KRTAP4-5, KRTAP4-6, KRTAP4-8, KRTAP4-9, KRTAP9-9, KSR1, LASP1, LEPREL4, LGALS9, LGALS9B, LLGL2, LRRC48, LSMD1, LYZL6, MAP2K3, MAP2K4, MAP2K6, MAP3K3, MARCH10, MED13, MED24, METRNL, MFAP4, MFSD6L, MGAT5B, MIEF2, MIEN1, MIF4GD, MINK1, MIS12, MLLT6, MLX, MNT, MPDU1, MPP3, MRC2, MRM1, MRPL12, MTMR4, MXRA7, MYADML2, MYBBP1A, MYH10, MYH13, MYH2, MYH3, MYO15A, MYO15B, MYO18A, MYO19, MYO1C, NACA2, NBR1, NCOR1, NEK8, NEURL4, NF1, NFE2L1, NLE1, NLGN2, NLRP1, NMT1, NOL11, NOTUM, NPLOC4, NPTX1, NSF, NSRP1, NTN1, NUFIP2, NUP88, ODF4, OGFOD3, OR1A1, OR3A2, OR3A3, OSBPL7, OTOP3, OXLD1, P2RX1, PCGF2, PDK2, PELP1, PEMT, PER1, PFAS, PFN1, PGAP3, PGS1, PIGW, PIK3R5, PIP4K2B, PITPNM3, PLCD3, PLD2, PLEKHH3, PLXDC1, PMP22, PNPO, POLDIP2, POLR2A, PPM1E, PPP1R9B, PRKAR1A, PRKCA, PRPF8, PRPSAP1, PSMB3, PSMB6, PSMC3IP, PSMC5, PSMD12, PYY, QRICH2, RAB11FIP4, RABEP1, RAD51D, RAI1, RANGRF, RAP1GAP2, RAPGEFL1, RBFOX3, RDM1, RECQL5, RHBDL3, RHOT1, RNF213, RNF222, RNF43, RNMTL1, RP11-1055B8.7, RP11-477N12.3, RPA1, RPTOR, RSAD1, RTN4RL1, SAT2, SCARF1, SCIMP, SCN4A, SDK2, SEC14L1, SECTM1, SEPT4, SEPT9, SERPINF1, SERPINF2, SEZ6, SGSH, SGSM2, SHMT1, SHPK, SIRT7, SKAP1, SLC16A13, SLC16A5, SLC16A6, SLC25A10, SLC25A11, SLC35G6, SLC38A10, SLC39A11, SLC47A2, SLC4A1, SLC52A1, SLC5A10, SLFN11, SLFN12, SLFN12L, SLFN13, SLFN14, SLFN5, SMCR8, SMG6, SMG8, SMTNL2, SMYD4, SP2, SPAG5, SPATA22, SPECC1, SPEM1, SPHK1, SPNS2, SPNS3, SRCIN1, SREBF1, SRP68, STARD3, SUPT6H, SYNGR2, SYNRG, TADA2A, TAF15, TANC2, TAOK1, TBC1D16, TBC1D26, TBCD, TBX2, TBX4, TCAP, TEFM, TEKT1, TEKT3, TEX14, TK1, TLCD1, TLCD2, TLK2, TM4SF5, TMC6, TMC8, TMEM102, TMEM132E, TMEM199, TMEM235, TMEM256-PLSCR3, TMEM88, TMEM92, TMEM99, TNFRSF13B, TNFSF12, TNFSF12-TNFSF13, TNK1, TNRC6C, TNS4, TOM1L2, TOP2A, TOP3A, TRIM16, TRIM25, TRIM47, TRPV1, TRPV2, TRPV3, TSEN54, TSPAN10, TSR1, TTLL6, TTYH2, TUBD1, TUBG2, UBALD2, UBTF, UNC45B, UNK, USP22, USP36, USP43, USP6, UTP6, VEZF1, VMO1, VPS25, VPS53, VTN, WDR81, WFIKKN2, WIPI1, WNT9B, WRAP53, XAF1, XYLT2, ZNF286B, ZNF385C, ZNF594, ZNF624, ZNF750, ZNF830, ZPBP2, ZZEF1,

Genes at Omim

ABCA5, ACACA, ACE, ACOX1, AIPL1, AKAP10, ALOXE3, ARSG, ASPA, AXIN2, B9D1, BRCA1, CACNA1G, CANT1, CARD14, CBX2, CCDC40, CCL11, CCL2, CCL3, CD79B, CHD3, CNTNAP1, COASY, COG1, COX10, CRYBA1, CTC1, DCXR, DLX3, DLX4, DNAH9, DNAI2, ELAC2, ENO3, ERBB2, FAM20A, FDXR, G6PC3, GAA, GCGR, GEMIN4, GFAP, GOSR2, GP1BA, GRN, GUCY2D, HES7, HOXB13, ITGA2B, ITGA3, ITGB3, ITGB4, JUP, KANSL1, KIAA0753, KIF1C, KRT10, KRT12, KRT14, KRT25, MPDU1, MYH2, MYH3, MYO15A, NEK8, NF1, NLRP1, NTN1, PFN1, PGAP3, PIGW, PIK3R5, PITPNM3, PMP22, PNPO, PRKAR1A, PRKCA, PRPF8, PSMC3IP, PSMD12, QRICH2, RAD51D, RAI1, RNF213, RNF43, SCN4A, SEPT9, SERPINF1, SGSH, SHPK, SLC4A1, SLC52A1, SLFN14, TAF15, TBCD, TBX2, TBX4, TCAP, TEX14, TLK2, TMC6, TMC8, TMEM199, TNFRSF13B, TOP2A, TOP3A, TRPV3, TSEN54, UBTF, UNC45B, VPS53, WDR81, WRAP53, XYLT2, ZNF750,
ABCA5 ?Hypertrichosis, congenital generalized, with gingival hyperplasia, 135400 (3)
ACACA Acetyl-CoA carboxylase deficiency, 613933 (1)
ACE {Microvascular complications of diabetes 3}, 612624 (3)
{Myocardial infarction, susceptibility to} (3)
{SARS, progression of} (3)
{Stroke, hemorrhagic}, 614519 (3)
Renal tubular dysgenesis, 267430 (3)
[Angiotensin I-converting enzyme, benign serum increase] (3)
ACOX1 Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)
AIPL1 Cone-rod dystrophy, 604393 (3)
Leber congenital amaurosis 4, 604393 (3)
Retinitis pigmentosa, juvenile, 604393 (3)
AKAP10 {Cardiac conduction defect, susceptibility to}, 115080 (3)
ALOXE3 Ichthyosis, congenital, autosomal recessive 3, 606545 (3)
ARSG Usher syndrome, type IV, 618144 (3)
ASPA Canavan disease, 271900 (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)
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)
CCL11 {HIV1, resistance to}, 609423 (3)
{Asthma, susceptibility to}, 600807 (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)
CCL3 {HIV infection, resistance to}, 609423 (2)
CD79B Agammaglobulinemia 6, 612692 (3)
CHD3 Snijders Blok-Campeau syndrome, 618205 (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)
COX10 Leigh syndrome due to mitochondrial COX4 deficiency, 256000 (3)
Mitochondrial complex IV deficiency, 220110 (3)
CRYBA1 Cataract 10, multiple types, 600881 (3)
CTC1 Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3)
DCXR [Pentosuria], 260800 (3)
DLX3 Amelogenesis imperfecta, type IV, 104510 (3)
Trichodontoosseous syndrome, 190320 (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)
ELAC2 Combined oxidative phosphorylation deficiency 17, 615440 (3)
{Prostate cancer, hereditary, 2, susceptibility to}, 614731 (3)
ENO3 ?Glycogen storage disease XIII, 612932 (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)
G6PC3 Dursun syndrome, 612541 (3)
Neutropenia, severe congenital 4, autosomal recessive, 612541 (3)
GAA Glycogen storage disease II, 232300 (3)
GCGR {Diabetes mellitus, noninsulin-dependent}, 125853 (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)
GRN Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 (3)
Aphasia, primary progressive, 607485 (3)
Ceroid lipofuscinosis, neuronal, 11, 614706 (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)
HOXB13 {Prostate cancer, hereditary, 9}, 610997 (3)
ITGA2B Glanzmann thrombasthenia, 273800 (3)
Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3)
Thrombocytopenia, neonatal alloimmune, BAK antigen related (3)
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)
KRT10 Ichthyosis with confetti, 609165 (3)
Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)
Epidermolytic hyperkeratosis, 113800 (3)
KRT12 Meesmann corneal dystrophy, 122100 (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)
KRT25 Woolly hair, autosomal recessive 3, 616760 (3)
MPDU1 Congenital disorder of glycosylation, type If, 609180 (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)
MYO15A Deafness, autosomal recessive 3, 600316 (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)
NTN1 Mirror movements 4, 618264 (3)
PFN1 Amyotrophic lateral sclerosis 18, 614808 (3)
PGAP3 Hyperphosphatasia with mental retardation syndrome 4, 615716 (3)
PIGW Glycosylphosphatidylinositol biosynthesis defect 11, 616025 (3)
PIK3R5 Ataxia-oculomotor apraxia 3, 615217 (3)
PITPNM3 Cone-rod dystrophy 5, 600977 (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)
PRKAR1A Adrenocortical tumor, somatic, (3)
Carney complex, type 1, 160980 (3)
Acrodysostosis 1, with or without hormone resistance, 101800 (3)
Myxoma, intracardiac, 255960 (3)
Pigmented nodular adrenocortical disease, primary, 1, 610489 (3)
PRKCA Pituitary tumor, invasive (3)
PRPF8 Retinitis pigmentosa 13, 600059 (3)
PSMC3IP Ovarian dysgenesis 3, 614324 (3)
PSMD12 Stankiewicz-Isidor syndrome, 617516 (3)
QRICH2 Spermatogenic failure 35, 618341 (3)
RAD51D {Breast-ovarian cancer, familial, susceptibility to, 4}, 614291 (3)
RAI1 Smith-Magenis syndrome, 182290 (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)
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)
TAF15 Chondrosarcoma, extraskeletal myxoid, 612237 (1)
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)
TMEM199 Congenital disorder of glycosylation, type IIp, 616829 (3)
TNFRSF13B Immunodeficiency, common variable, 2, 240500 (3)
Immunoglobulin A deficiency 2, 609529 (3)
TOP2A DNA topoisomerase II, resistance to inhibition of, by amsacrine (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)
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)
UBTF Neurodegeneration, childhood-onset, with brain atrophy, 617672 (3)
UNC45B ?Cataract 43, 616279 (3)
VPS53 Pontocerebellar hypoplasia, type 2E, 615851 (3)
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)
Hydrocephalus, congenital, 3, with brain anomalies, 617967 (3)
WRAP53 Dyskeratosis congenita, autosomal recessive 3, 613988 (3)
XYLT2 {Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3)
Spondyloocular syndrome, 605822 (3)
ZNF750 Seborrhea-like dermatitis with psoriasiform elements, 610227 (3)

Genes at Clinical Genomics Database

ABCA5, ACE, ACOX1, AIPL1, ALOXE3, ASPA, AXIN2, B9D1, BRCA1, CACNA1G, CANT1, CARD14, CBX2, CCDC137, CCDC40, CD79B, CNTNAP1, COASY, COG1, COX10, CRYBA1, CTC1, DCXR, DLX3, DLX4, DNAI2, ELAC2, ENO3, FAM20A, G6PC3, GAA, GFAP, GOSR2, GP1BA, GRN, GUCY2D, HES7, ITGA2B, ITGA3, ITGB3, ITGB4, JUP, KANSL1, KIF1C, KRT10, KRT12, KRT14, KRT25, MPDU1, MYH2, MYH3, MYO15A, NEK8, NF1, NLRP1, PFN1, PGAP3, PIGW, PIK3R5, PITPNM3, PMP22, PNPO, PRKAR1A, PRPF8, PSMC3IP, RAD51D, RAI1, RNF213, SCN4A, SEPT9, SERPINF1, SERPINF2, SGSH, SLC4A1, SLC52A1, SLFN14, TBX4, TCAP, TMC6, TMC8, TMEM199, TNFRSF13B, TRPV3, TSEN54, UNC45B, VPS53, WDR81, WRAP53, ZNF750,
ABCA5 Hypertrichosis terminalis, generalized, with or without gingival hyperplasia
ACE Renal tubular dysgenesis
ACE serum levels
ACOX1 Peroxisomal acyl-CoA oxidase deficiency
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
BRCA1 Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
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
CNTNAP1 Lethal congenital contracture syndrome 7
COASY Neurodegeneration with brain iron accumulation 6
COG1 Congenital disorder of glycosylation, type IIg
COX10 Mitochondrial complex IV deficiency
Leigh syndrome
CRYBA1 Cataract 10, multiple types
CTC1 Cerebroretinal microangiopathy with calcifications and cysts
DCXR Pentosuria
DLX3 Trichodontoosseous syndrome
Amelogenesis imperfecta, type IV
DLX4 Orofacial cleft 15
DNAI2 Ciliary dyskinesia, primary, 9
ELAC2 Combined oxidative phosphorylation deficiency 17
ENO3 Glycogen storage disease XIII
FAM20A Amelogenesis imperfecta, type IG (Enamel-renal syndrome)
G6PC3 Neutropenia, severe congenital, 4, autosomal recessive
Dursun 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
GRN Frontotemporal lobar degeneration with TDP43 inclusions, GRN-related
Neuronal ceroid lipofuscinosis 11
GUCY2D Cone-rod dystrophy 6
Leber congenital amaurosis, type 1
Cone-Rod dystrophy, autosomal recessive
HES7 Spondylocostal dysostosis 4, autosomal recessive
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
KRT10 Erythroderma, ichthyosiform, congenital reticular
Aaru disease
Ichthyosis, cyclic, with epidermolytic hyperkeratosis
Epidermolytic hyperkeratosis
Ichthyosis with confetti
KRT12 Meesmann corneal dystrophy
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
KRT25 Woolly hair, autosomal recessive 3
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
MYO15A Deafness, autosomal recessive 3
NEK8 Nephronophthisis 9
NF1 Neurofibromatosis type 1, Neurofibromatosis-Noonan syndrome
Watson syndrome
NLRP1 Corneal intraepithelial dyskeratosis and ectodermal dysplasia
PFN1 Amyotrophic lateral sclerosis 18
PGAP3 Hyperphosphatasia with mental retardation syndrome 4
PIGW Hyperphosphatasia with mental retardation syndrome 5
PIK3R5 Ataxia-oculomotor apraxia 3
PITPNM3 Cone-rod dystrophy 5
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
PRKAR1A Pigmented nodular adrenocortical disease, primary, 1
Carney complex, type 1
Myxoma, intracardiac
Acrodysostosis 1, with or without hormone resistance
PRPF8 Retinitis pigmentosa 13
PSMC3IP Ovarian dysgenesis 3
RAD51D Ovarian cancer, familial, susceptibility to
RAI1 Smith-Magenis syndrome
RNF213 Moyamoya disease 2
SCN4A Paramyotonia congenita
Hyperkalemic periodic paralysis, type 2
Hypokalemic periodic paralysis, type 2
Normokalemic potassium-sensitive periodic paralysis
Malignant hyperthermia, susceptibility to
Myasthenic syndrome, congenital, 16
Myotonia, potassium-aggravated
SEPT9 Amyotrophy, hereditary neuralgic
SERPINF1 Osteogenesis imperfecta, type VI
SERPINF2 Alpha-2-plasmin inhibitor deficiency
SGSH Mucopolysaccharidosis type IIIA (Sanfilippo syndrome A)
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
TMEM199 Congenital disorder of glycosylation, type IIp
TNFRSF13B Immunoglobulin A deficiency 2
Common variable immunodeficiency 2
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
WRAP53 Dyskeratosis congenita, autosomal recessive 3
ZNF750 Seborrhea-like dermatitis with psoriasiform elements

Genes at HGMD

Summary

Number of Variants: 2738
Number of Genes: 517

Export to: CSV

AATF

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 chh6738_annovar 17 rs114365683
dbSNP Clinvar
35343955 1945.13 G A PASS 0|0 68 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 1.00 0.00 1.27 0.00 0.00754 T None None None None AATF|0.980408321|1.45%
View chh6738_annovar 17 rs1045056
dbSNP Clinvar
35346641 461.13 T C PASS 0|0 19 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 17 rs7503604
dbSNP Clinvar
79095629 151.18 C A PASS 1|0 3 NON_SYNONYMOUS_CODING MODERATE None 0.55651 0.55650 0.46455 0.17 0.00 0.44 None None None None None None AATK|0.00450864|86.39%

ABCA10

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 chh6738_annovar 17 rs11657804
dbSNP Clinvar
67210992 2801.9 T C PASS 1|0 41 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.26158 0.26160 0.29885 0.30 0.12 -2.48 None None None None None None ABCA10|0.002179826|90.49%
View chh6738_annovar 17 rs10491178
dbSNP Clinvar
67149973 971.13 G A PASS 0|0 39 STOP_GAINED+SPLICE_SITE_REGION HIGH None 0.08866 0.08866 0.06005 6.05 None None None None None None ABCA10|0.002179826|90.49%
View chh6738_annovar 17 rs16973656
dbSNP Clinvar
67150118 980.13 C T PASS 0|0 41 SYNONYMOUS_CODING LOW None 0.08786 0.08786 0.06005 None None None None None None ABCA10|0.002179826|90.49%
View chh6738_annovar 17 rs3842375
dbSNP Clinvar
67145190 1721.13 TGA T PASS 0|0 49 FRAME_SHIFT HIGH None 0.08806 0.08806 0.06023 None None None None None None ABCA10|0.002179826|90.49%
View chh6738_annovar 17 rs113082690
dbSNP Clinvar
67190536 974.13 AACAG A PASS 0|0 34 FRAME_SHIFT HIGH None 0.08846 0.08846 0.07313 None None None None None None ABCA10|0.002179826|90.49%

ABCA5

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 chh6738_annovar 17 rs17686569
dbSNP Clinvar
67290840 307.13 T C PASS 0|0 16 NON_SYNONYMOUS_CODING MODERATE None 0.14377 0.14380 0.17474 0.24 0.02 1.72 None None None None None None ABCA5|0.269145961|29.93%
View chh6738_annovar 17 rs11544715
dbSNP Clinvar
67304447 711.13 C T PASS 0|0 24 NON_SYNONYMOUS_CODING MODERATE None 0.12400 0.12400 0.15132 0.13 0.01 2.38 None None None None None None ABCA5|0.269145961|29.93%
View chh6738_annovar 17 rs557491
dbSNP Clinvar
67267317 992.13 T C PASS 0|0 36 NON_SYNONYMOUS_CODING MODERATE None 0.49740 0.49740 0.45794 0.49 0.00 -1.14 None None None None None None ABCA5|0.269145961|29.93%

ABCA6

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 chh6738_annovar 17 rs9282553
dbSNP Clinvar
67108362 1185.13 C G PASS 0|0 48 NON_SYNONYMOUS_CODING MODERATE None 0.20767 0.20770 0.17292 0.02 0.00 0.51 None None None None None None ABCA6|0.006278632|84.32%
View chh6738_annovar 17 rs9282554
dbSNP Clinvar
67109833 1414.13 T A PASS 0|0 61 NON_SYNONYMOUS_CODING MODERATE None 0.09345 0.09345 0.05774 0.16 0.39 1.73 None None None None None None ABCA6|0.006278632|84.32%

ABCA8

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 chh6738_annovar 17 rs16973424
dbSNP Clinvar
66904001 1070.16 A C PASS 1|0 39 NON_SYNONYMOUS_CODING MODERATE None 0.02955 0.02955 0.00031 0.00 0.95 3.70 None None None None None None ABCA8|0.008754907|81.9%

ABCA9

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 chh6738_annovar 17 rs61744800
dbSNP Clinvar
67039645 1121.13 C T PASS 0|0 38 NON_SYNONYMOUS_CODING MODERATE None 0.07788 0.07788 0.05697 1.00 0.02 2.36 None None None None None None ABCA9|0.017284198|75.69%

ABCC3

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 chh6738_annovar 17 rs2277624
dbSNP Clinvar
48761105 2095.16 C T PASS 0|1 59 SYNONYMOUS_CODING LOW None 0.28694 0.28690 0.26465 None None None None None None ABCC3|0.044769991|64.26%
View chh6738_annovar 17 rs4148416
dbSNP Clinvar
48753423 887.16 C T PASS 0|1 39 SYNONYMOUS_CODING LOW None 0.13698 0.13700 0.10095 None None None None None None ABCC3|0.044769991|64.26%

ABHD15

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 chh6738_annovar 17 rs542939
dbSNP Clinvar
27889986 7896.16 T C PASS 0|1 72 NON_SYNONYMOUS_CODING MODERATE None 0.76797 0.76800 0.30571 1.00 0.03 0.35 None None None None None None ABHD15|0.102676834|50.66%
View chh6738_annovar 17 rs721479
dbSNP Clinvar
27889963 1877.13 C G PASS 0|0 49 SYNONYMOUS_CODING LOW None 0.22284 0.22280 0.22328 None None None None None None ABHD15|0.102676834|50.66%

ABI3

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 chh6738_annovar 17 rs535107598
dbSNP Clinvar
47300019 532.13 G C PASS 0|0 18 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.99 5.24 0.08 0.73962 D None None None None ABI3|0.032000436|68.63%
View chh6738_annovar 17 rs2233369
dbSNP Clinvar
47293906 823.16 G A PASS 1|0 22 NON_SYNONYMOUS_CODING MODERATE None 0.10583 0.10580 0.04260 0.16 0.25 4.43 None None None None None None ABI3|0.032000436|68.63%

AC005544.1

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 chh6738_annovar 17 rs740555
dbSNP Clinvar
65027740 4284.9 G C PASS 0|1 44 NON_SYNONYMOUS_CODING MODERATE None 0.34984 0.34980 0.98 None None None None None None CACNG4|0.127367032|46.28%

AC090616.2

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 chh6738_annovar 17 rs13342625
dbSNP Clinvar
30469423 851.48 C A PASS 1|0 32 SYNONYMOUS_CODING LOW None 0.31510 0.31510 None None None None None None None

AC129492.6

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 chh6738_annovar 17 rs2304907
dbSNP Clinvar
7983799 1036.13 A G PASS 0|0 37 SYNONYMOUS_CODING LOW None 0.45986 0.45990 None None None None None None ALOX12B|0.051252104|62.25%

ACACA

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 chh6738_annovar 17 rs2229416
dbSNP Clinvar
35609866 3611.9 C T PASS 1|0 72 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 17 rs371186337
dbSNP Clinvar
7254311 1473.16 G A PASS 0|1 45 SYNONYMOUS_CODING LOW None None None None None None None ACAP1|0.086299912|53.89%

ACE

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 chh6738_annovar 17 rs4331
dbSNP Clinvar
61564052 3780.92 A G PASS 0/1 53 SYNONYMOUS_CODING LOW None 0.52955 0.52960 0.44326 None None None None None None ACE|0.894558224|3.56%
View chh6738_annovar 17 rs4362
dbSNP Clinvar
61573761 2398.92 T C PASS 0/1 37 SYNONYMOUS_CODING LOW None 0.58746 0.58750 0.49470 None None None None None None ACE|0.894558224|3.56%
View chh6738_annovar 17 rs4343
dbSNP Clinvar
61566031 3223.06 G A PASS 0/1 66 SYNONYMOUS_CODING LOW None 0.64317 0.64320 0.43987 None None None None None None ACE|0.894558224|3.56%
View chh6738_annovar 17 rs4309
dbSNP Clinvar
61559923 2490.92 C T PASS 0/1 38 SYNONYMOUS_CODING LOW None 0.42352 0.42350 0.33569 None None None None None None ACE|0.894558224|3.56%
View chh6738_annovar 17 rs4316
dbSNP Clinvar
61562309 1445.92 C T PASS 0/1 27 SYNONYMOUS_CODING LOW None 0.51917 0.51920 0.42675 None None None None None None ACE|0.894558224|3.56%

ACOX1

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 chh6738_annovar 17 rs3744032
dbSNP Clinvar
73969835 1947.16 C T PASS 1|0 61 None None None 0.06490 0.06490 0.04475 0.32 0.01 2.48 None None None None None None ACOX1|0.181440529|38.86%

ACSF2

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 chh6738_annovar 17 rs2305998
dbSNP Clinvar
48549791 1244.13 C G PASS 0|0 39 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.18570 0.18570 0.24427 None None None None None None ACSF2|0.036236332|67.04%

ADAM11

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 chh6738_annovar 17 rs1558083
dbSNP Clinvar
42852604 3014.92 G T PASS 0/1 57 SYNONYMOUS_CODING LOW None 0.64557 0.64560 0.41950 None None None None None None ADAM11|0.131633893|45.66%
View chh6738_annovar 17 rs2070605
dbSNP Clinvar
42855554 1043.16 T C PASS 0|1 40 SYNONYMOUS_CODING LOW None 0.64537 0.64540 0.41996 None None None None None None ADAM11|0.131633893|45.66%
View chh6738_annovar 17 rs35936481
dbSNP Clinvar
42851729 1455.14 C T PASS 0|1 25 SYNONYMOUS_CODING LOW None 0.64557 0.64560 0.40983 None None None None None None ADAM11|0.131633893|45.66%
View chh6738_annovar 17 rs8075210
dbSNP Clinvar
42854610 1609.55 T C PASS 0|1 53 SYNONYMOUS_CODING LOW None 0.64537 0.64540 0.41973 None None None None None None ADAM11|0.131633893|45.66%

ADPRM

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 chh6738_annovar 17 rs406446
dbSNP Clinvar
10614442 2067.16 A G PASS 1|0 53 NON_SYNONYMOUS_CODING MODERATE None 0.48722 0.48720 0.48770 0.09 0.04 1.74 None None None None None None ADPRM|0.084888375|54.22%,TMEM220|0.046283396|63.81%

AIPL1

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 chh6738_annovar 17 rs2292543
dbSNP Clinvar
6338284 1364.13 A G PASS 0|0 50 None None None 0.05611 0.05611 0.03137 None None None None None None AIPL1|0.064852727|58.69%
View chh6738_annovar 17 rs7222126
dbSNP Clinvar
6329917 1154.13 C T PASS 0|0 42 None None None 0.07508 0.07508 0.05521 0.20 0.00 0.18 None None None None None None AIPL1|0.064852727|58.69%
View chh6738_annovar 17 rs12449580
dbSNP Clinvar
6337247 1591.16 C G PASS 0|1 48 NON_SYNONYMOUS_CODING MODERATE None 0.17991 0.17990 0.16539 0.00 0.58 5.13 None None None None None None AIPL1|0.064852727|58.69%
View chh6738_annovar 17 rs2292544
dbSNP Clinvar
6338293 1360.13 G A PASS 0|0 50 None None None 0.05611 0.05611 0.03214 None None None None None None AIPL1|0.064852727|58.69%
View chh6738_annovar 17 rs8075035
dbSNP Clinvar
6331803 1806.92 T C PASS 0/1 34 SYNONYMOUS_CODING LOW None 0.57588 0.57590 0.39474 None None None None None None AIPL1|0.064852727|58.69%
View chh6738_annovar 17 rs2292546
dbSNP Clinvar
6330068 2585.92 T C PASS 0/1 55 SYNONYMOUS_CODING LOW None 0.71366 0.71370 0.26134 None None None None None None AIPL1|0.064852727|58.69%

AKAP1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 17 rs1050515
dbSNP Clinvar
55183716 6033.16 T C PASS 0|1 74 SYNONYMOUS_CODING LOW None 0.59066 0.59070 0.45917 None None None None None None AKAP1|0.039700237|65.85%
View chh6738_annovar 17 rs2230772
dbSNP Clinvar
55183203 6100.16 T C PASS 0|1 77 SYNONYMOUS_CODING LOW None 0.47824 0.47820 0.39136 None None None None None None AKAP1|0.039700237|65.85%

AKAP10

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 chh6738_annovar 17 rs203462
dbSNP Clinvar
19812541 2671.16 T C PASS 0|0 43 NON_SYNONYMOUS_CODING MODERATE None 0.39397 0.39400 0.45041 1.00 0.00 0.61 None None None None None None AKAP10|0.479048269|16.82%
View chh6738_annovar 17 rs2108978
dbSNP Clinvar
19861458 2419.16 C T PASS 0|0 42 NON_SYNONYMOUS_CODING MODERATE None 0.38958 0.38960 0.44495 0.74 0.00 0.71 None None None None None None AKAP10|0.479048269|16.82%
View chh6738_annovar 17 rs79803528
dbSNP Clinvar
19861599 1640.13 G C PASS 0|0 42 NON_SYNONYMOUS_CODING MODERATE None 0.01657 0.01657 0.00008 0.05 0.21 2.73 None None None None None None AKAP10|0.479048269|16.82%
View chh6738_annovar 17 rs76345077
dbSNP Clinvar
19871740 846.13 C G PASS 0|0 38 SYNONYMOUS_CODING LOW None 0.01917 0.01917 0.00423 None None None None None None AKAP10|0.479048269|16.82%

ALDH3A1

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 chh6738_annovar 17 rs2228100
dbSNP Clinvar
19642952 4149.16 G C PASS 0|1 45 NON_SYNONYMOUS_CODING MODERATE None 0.37999 0.38000 0.32239 0.17 0.00 0.64 None None None None None None ALDH3A1|0.032163878|68.52%
View chh6738_annovar 17 rs2072330
dbSNP Clinvar
19644472 1625.16 A T PASS 1|0 50 SYNONYMOUS_CODING LOW None 0.29074 0.29070 0.30186 None None None None None None ALDH3A1|0.032163878|68.52%

ALKBH5

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 chh6738_annovar 17 rs11078411
dbSNP Clinvar
18088094 1680.13 C T PASS 0|0 39 SYNONYMOUS_CODING LOW None 0.17951 0.17950 0.23006 None None None None None None ALKBH5|0.283250077|28.87%

ALOX12

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 17 rs434473
dbSNP Clinvar
6904934 4854.16 A G PASS 1|0 49 NON_SYNONYMOUS_CODING MODERATE None 0.34125 0.34130 0.34507 0.81 0.00 -0.90 None None None None None None ALOX12|0.072773622|56.83%
View chh6738_annovar 17 rs312462
dbSNP Clinvar
6913652 954.91 G A PASS 0|0 40 SYNONYMOUS_CODING LOW None 0.11921 0.11920 0.08873 None None None None None None ALOX12|0.072773622|56.83%
View chh6738_annovar 17 rs1042357
dbSNP Clinvar
6905061 1691.16 T G PASS 0|1 42 SYNONYMOUS_CODING LOW None 0.57228 0.57230 0.42734 None None None None None None ALOX12|0.072773622|56.83%
View chh6738_annovar 17 rs1042356
dbSNP Clinvar
6902743 2608.16 G A PASS 0|1 59 SYNONYMOUS_CODING LOW None 0.60184 0.60180 0.39466 None None None None None None ALOX12|0.072773622|56.83%
View chh6738_annovar 17 rs1126667
dbSNP Clinvar
6902760 2270.16 A G PASS 0|1 59 NON_SYNONYMOUS_CODING MODERATE None 0.60403 0.60400 0.39190 0.40 0.01 -1.27 None None None None None None ALOX12|0.072773622|56.83%

ALOX15B

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 chh6738_annovar 17 rs9898751
dbSNP Clinvar
7950952 192.13 C A PASS 0|0 21 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.44748 0.44750 0.44649 None None None None None None ALOX15B|0.008183706|82.49%
View chh6738_annovar 17 rs76589243
dbSNP Clinvar
7942901 275.29 C G PASS 1|0 10 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.26358 0.26360 0.22180 None None None None None None ALOX15B|0.008183706|82.49%
View chh6738_annovar 17 rs11541083
dbSNP Clinvar
7950377 986.13 C T PASS 0|0 50 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.24840 0.24840 0.26411 None None None None None None ALOX15B|0.008183706|82.49%
View chh6738_annovar 17 rs4792147
dbSNP Clinvar
7951819 1291.13 A G PASS 0|0 43 NON_SYNONYMOUS_CODING MODERATE None 0.65036 0.65040 0.39520 0.46 0.00 -0.17 None None None None None None ALOX15B|0.008183706|82.49%
View chh6738_annovar 17 rs6503070
dbSNP Clinvar
7948175 899.13 C T PASS 0|0 37 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.59724 0.59720 0.44572 None None None None None None ALOX15B|0.008183706|82.49%

ALOXE3

Omim - GeneCards - NCBI
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View chh6738_annovar 17 rs199731680
dbSNP Clinvar
8007508 330.16 T C PASS 0|1 15 SYNONYMOUS_CODING LOW None 0.00020 0.00020 None None None None None None ALOXE3|0.073088496|56.77%
View chh6738_annovar 17 rs3027232
dbSNP Clinvar
8022065 1427.16 G A PASS 0|0 28 None None None 0.37400 0.37400 0.00 0.00 1.96 None None None None None None ALOXE3|0.073088496|56.77%

AMZ2

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 chh6738_annovar 17 rs7105
dbSNP Clinvar
66253095 3745.16 T A PASS 0|0 64 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chh6738_annovar 17 rs2241935
dbSNP Clinvar
54588211 1337.13 T C PASS 0|0 36 NON_SYNONYMOUS_CODING MODERATE None 0.10443 0.10440 0.16 0.99 3.12 None None None None None None ANKFN1|0.698610051|8.53%
View chh6738_annovar 17 rs76119621
dbSNP Clinvar
54588285 1515.13 C T PASS 0|0 36 SYNONYMOUS_CODING LOW None 0.00240 0.00240 None None None None None None ANKFN1|0.698610051|8.53%

ANKFY1

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 chh6738_annovar 17 rs117382496
dbSNP Clinvar
4084608 754.13 C T PASS 0|0 32 SYNONYMOUS_CODING LOW None 0.01837 0.01837 0.00016 None None None None None None CYB5D2|0.023633765|72.36%,ANKFY1|0.171100968|40.16%
View chh6738_annovar 17 rs148356795
dbSNP Clinvar
4086836 352.13 C T PASS 0|0 16 SYNONYMOUS_CODING LOW None 0.00559 0.00559 0.00024 None None None None None None CYB5D2|0.023633765|72.36%,ANKFY1|0.171100968|40.16%

APOH

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 chh6738_annovar 17 rs1801692
dbSNP Clinvar
64222164 1210.16 C T PASS 0|1 54 NON_SYNONYMOUS_CODING MODERATE None 0.02895 0.02895 0.03529 0.54 0.00 -1.91 None None None None None None APOH|0.076233012|56.02%
View chh6738_annovar 17 rs4581
dbSNP Clinvar
64210757 3120.92 C A PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.54153 0.54150 0.32969 0.69 0.00 0.18 None None None None None None APOH|0.076233012|56.02%

ARHGAP44

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 chh6738_annovar 17 rs148180360
dbSNP Clinvar
12888103 898.16 C T PASS 1|0 42 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.00060 0.14 1.00 4.35 0.22 0.87731 D None None None None ARHGAP44|0.164173039|41.01%
View chh6738_annovar 17 rs2072254
dbSNP Clinvar
12852459 3173.16 A G PASS 1|0 63 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.10523 0.10520 0.06972 None None None None None None ARHGAP44|0.164173039|41.01%

ARL16

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 chh6738_annovar 17 rs8066889
dbSNP Clinvar
79650828 34.37 T G PASS 0|0 1 NON_SYNONYMOUS_CODING MODERATE None 0.24820 0.24820 0.25755 0.86 0.00 1.63 None None None None None None ARL16|0.016560064|76.15%,HGS|0.175136436|39.63%

ARL5C

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 chh6738_annovar 17 rs151045610
dbSNP Clinvar
37313176 732.13 A G PASS 0|0 36 NON_SYNONYMOUS_CODING MODERATE None 0.01558 0.01558 0.00 1.00 4.57 None None None None None None ARL5C|0.012423573|78.94%
View chh6738_annovar 17 rs16522
dbSNP Clinvar
37316988 907.13 T C PASS 0|0 37 NON_SYNONYMOUS_CODING MODERATE None 0.13938 0.13940 0.12308 1.00 0.00 -2.11 None None None None None None ARL5C|0.012423573|78.94%
View chh6738_annovar 17 rs544198
dbSNP Clinvar
37319029 1182.13 T G PASS 0|0 52 NON_SYNONYMOUS_CODING MODERATE None 0.23522 0.23520 0.22887 0.01 0.21 1.69 None None None None None None ARL5C|0.012423573|78.94%
View chh6738_annovar 17 rs657672
dbSNP Clinvar
37319065 1108.13 C T PASS 0|0 53 NON_SYNONYMOUS_CODING MODERATE None 0.13219 0.13220 0.11301 0.04 0.60 2.27 None None None None None None ARL5C|0.012423573|78.94%
View chh6738_annovar 17 rs657723
dbSNP Clinvar
37319103 1082.13 T C PASS 0|0 38 NON_SYNONYMOUS_CODING MODERATE None 0.33307 0.33310 0.32063 0.02 0.02 0.88 None None None None None None ARL5C|0.012423573|78.94%

ARSG

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 chh6738_annovar 17 rs9972951
dbSNP Clinvar
66391276 5081.16 G A PASS 0|1 46 NON_SYNONYMOUS_CODING MODERATE None 0.11182 0.11180 0.03545 0.50 0.00 0.80 None None None None None None ARSG|0.038924858|66.13%

ASB16

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 chh6738_annovar 17 rs7217858
dbSNP Clinvar
42254527 294.55 T G PASS 1|0 10 NON_SYNONYMOUS_CODING MODERATE None 0.51917 0.51920 0.36072 0.51 0.00 -0.04 None None None None None None ASB16|0.091388506|52.96%

ASGR1

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 chh6738_annovar 17 rs55714927
dbSNP Clinvar
7080316 764.41 C T PASS 0|0 16 SYNONYMOUS_CODING LOW None 0.17292 0.17290 0.14140 None None None None None None ASGR1|0.022748466|72.82%

ASGR2

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 chh6738_annovar 17 rs2304978
dbSNP Clinvar
7012079 1873.16 C T PASS 0|1 38 NON_SYNONYMOUS_CODING MODERATE None 0.25499 0.25500 0.22382 0.70 0.00 1.00 None None None None None None ASGR2|0.003649861|87.52%
View chh6738_annovar 17 rs2304979
dbSNP Clinvar
7012077 1873.16 C T PASS 0|1 38 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.25499 0.25500 0.22305 None None None None None None ASGR2|0.003649861|87.52%

ASIC2

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 chh6738_annovar 17 rs9893935
dbSNP Clinvar
31618732 4509.16 A G PASS 1|1 61 SYNONYMOUS_CODING LOW None 0.55990 0.55990 0.48428 None None None None None None ASIC2|0.867321872|4.31%
View chh6738_annovar 17 rs2228989
dbSNP Clinvar
32483270 1452.13 C G PASS 0|0 50 None None None 0.23223 0.23220 0.14789 None None None None None None ASIC2|0.867321872|4.31%
View chh6738_annovar 17 rs9890913
dbSNP Clinvar
31618551 888.16 G A PASS 1|0 37 SYNONYMOUS_CODING LOW None 0.12899 0.12900 0.09829 None None None None None None ASIC2|0.867321872|4.31%
View chh6738_annovar 17 rs2228990
dbSNP Clinvar
32483237 1529.13 A G PASS 0|0 55 None None None 0.27217 0.27220 0.18811 None None None None None None ASIC2|0.867321872|4.31%

ASPA

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 chh6738_annovar 17 rs12948217
dbSNP Clinvar
3397702 1602.16 C T PASS 1|0 40 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.20367 0.20370 0.28925 None None None None None None SPATA22|0.048389783|63.17%,ASPA|0.191557197|37.65%

ATAD5

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 chh6738_annovar 17 rs11655623
dbSNP Clinvar
29162173 603.13 T C PASS 0|0 36 SYNONYMOUS_CODING LOW None 0.18011 0.18010 0.12929 None None None None None None ATAD5|0.264597723|30.33%
View chh6738_annovar 17 rs999796
dbSNP Clinvar
29159404 787.13 G C PASS 0|0 58 SYNONYMOUS_CODING LOW None 0.28774 0.28770 0.23674 None None None None None None ATAD5|0.264597723|30.33%
View chh6738_annovar 17 rs9910051
dbSNP Clinvar
29161202 932.13 A T PASS 0|0 37 NON_SYNONYMOUS_CODING MODERATE None 0.28794 0.28790 0.23519 1.00 0.00 -0.06 None None None None None None ATAD5|0.264597723|30.33%
View chh6738_annovar 17 rs3816780
dbSNP Clinvar
29161358 1237.13 C T PASS 0|0 39 NON_SYNONYMOUS_CODING MODERATE None 0.17252 0.17250 0.12550 1.00 0.00 -0.25 None None None None None None ATAD5|0.264597723|30.33%
View chh6738_annovar 17 rs17826219
dbSNP Clinvar
29161845 626.13 G A PASS 0|0 36 NON_SYNONYMOUS_CODING MODERATE None 0.14417 0.14420 0.09374 0.74 0.03 -1.80 None None None None None None ATAD5|0.264597723|30.33%
View chh6738_annovar 17 rs72427574,rs60663953
dbSNP Clinvar
29161955 1010.13 AC... A PASS 0|0 36 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.14397 0.14400 0.08583 None None None None None None ATAD5|0.264597723|30.33%
View chh6738_annovar 17 rs3764421
dbSNP Clinvar
29167653 1167.13 A C PASS 0|0 38 NON_SYNONYMOUS_CODING MODERATE None 0.14417 0.14420 0.09303 0.00 0.92 4.19 None None None None None None ATAD5|0.264597723|30.33%
View chh6738_annovar 17 rs9896095
dbSNP Clinvar
29187497 1475.13 A G PASS 0|0 40 SYNONYMOUS_CODING LOW None 0.17252 0.17250 0.12550 None None None None None None ATAD5|0.264597723|30.33%
View chh6738_annovar 17 rs11657270
dbSNP Clinvar
29214387 1851.13 T C PASS 0|0 50 NON_SYNONYMOUS_CODING MODERATE None 0.14437 0.14440 0.09388 0.59 0.00 -0.02 None None None None None None ATAD5|0.264597723|30.33%

ATP2A3

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 chh6738_annovar 17 rs887387
dbSNP Clinvar
3828702 1182.16 T C PASS 0|1 23 None None None 0.28634 0.28630 0.32639 None None None None None None ATP2A3|0.0615045|59.44%