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Genes:
AATK, ABCA5, ABCA6, ABCA8, ABCA9, ABCC3, ABHD15, ABI3, ABR, AC005544.1, AC040977.1, AC061992.1, AC079210.1, AC090616.2, AC129492.6, ACACA, ACAP1, ACE, ACLY, ACSF2, ACTG1, ADAM11, ADPRM, AKAP1, ALDH3A1, ALDH3A2, ALOX12, ALOX15, ALOX15B, AMZ2, ANKFN1, ANKFY1, APOH, ARHGAP23, ARHGAP27, ARHGEF15, ARRB2, ARSG, ASB16, ASIC2, ASPSCR1, ATAD5, ATP1B2, ATP2A3, AURKB, AXIN2, AZI1, B3GNTL1, B4GALNT2, B9D1, BAIAP2, BCAS3, BCL6B, BIRC5, BPTF, BRIP1, C17orf100, C17orf102, C17orf103, C17orf104, C17orf107, C17orf47, C17orf49, C17orf50, C17orf53, C17orf58, C17orf59, C17orf66, C17orf70, C17orf72, C17orf77, C17orf80, C17orf82, C17orf97, C17orf99, CACNA1G, CACNB1, CACNG4, CALCOCO2, CAMKK1, CAMTA2, CANT1, CARD14, CASKIN2, CBX2, CBX4, CBX8, CCDC137, CCDC144A, CCDC144NL, CCDC182, CCDC40, CCDC57, CCL11, CCL15, CCL23, CCL4, CCL4L1, CCR10, CCT6B, CD300A, CD300E, CD300LF, CD300LG, CD79B, CDC27, CDK12, CDRT1, CDRT15, CDRT4, CENPV, CEP112, CEP95, CHD3, CHMP6, CHRNE, CISD3, CLEC10A, CLUH, CNTROB, COG1, COL1A1, COPRS, COPZ2, COX10, CSH1, CSHL1, CTC1, CTNS, CXCL16, CYB5D1, CYGB, DCAF7, DCXR, DDX52, DERL2, DGKE, DHRS13, DHX33, DHX40, DLG4, DNAH17, DNAH17-AS1, DNAH2, DNAH9, DNAI2, DOC2B, DPH1, DRG2, DUS1L, DVL2, EFCAB13, EFCAB5, EIF4A1, EIF5A, ENDOV, ENO3, ENPP7, ENTHD2, EPN2, EPN3, ERAL1, ERBB2, ERN1, EVI2A, EVPL, EVPLL, FADS6, FAM104A, FAM215A, FAM83G, FASN, FBF1, FBXO39, FBXW10, FMNL1, FN3K, FN3KRP, FNDC8, FOXJ1, FOXK2, FTSJ3, GAA, GAS2L2, GAST, GGT6, GH1, GID4, GIT1, GLTPD2, GP1BA, GPATCH8, GPR142, GPS2, GRAP, GRB7, GRIN2C, GSDMA, GSDMB, GSG2, GUCY2D, H3F3B, HAP1, HDAC5, HELZ, HEXDC, HID1, HIGD1B, HOXB1, HOXB13, HOXB3, HOXB5, HOXB7, HS3ST3A1, HS3ST3B1, HSF5, IFI35, IFT20, IGFBP4, IKZF3, INCA1, INTS2, ITGA3, ITGAE, ITGB4, JUP, KANSL1, KAT7, KCNH6, KCNJ12, KDM6B, KIAA0195, KIAA0753, KIF19, KIF1C, KIF2B, KLHL10, KLHL11, KPNA2, KRT10, KRT13, KRT14, KRT15, KRT16, KRT17, KRT27, KRT28, KRT32, KRT34, KRT35, KRT36, KRT37, KRT38, KRT9, KRTAP1-3, KRTAP2-4, KRTAP29-1, KRTAP4-1, KRTAP4-11, KRTAP4-16P, KRTAP4-2, KRTAP4-5, KRTAP4-6, KRTAP4-7, KRTAP4-8, KRTAP4-9, KRTAP9-1, KRTAP9-3, KRTAP9-4, KRTAP9-6, KRTAP9-7, KRTAP9-9, KSR1, LGALS3BP, LGALS9C, LLGL1, LLGL2, LRRC37A, LRRC37A2, LRRC37A3, LSM12, LUC7L3, LYZL6, MAP2K3, MAPT, MARCH10, MBTD1, MED13, MED31, MEOX1, METTL2A, MGAT5B, MIEF2, MINK1, MLLT6, MLX, MMP28, MNT, MPP2, MPRIP, MRC2, MRPL38, MRPS23, MRPS7, MSI2, MTMR4, MXRA7, MYADML2, MYBBP1A, MYCBPAP, MYH1, MYH10, MYH13, MYH2, MYH3, MYH4, MYH8, MYO15A, MYO15B, MYO19, MYO1C, MYOCD, NAGLU, NBR1, NCOR1, NDEL1, NEURL4, NF1, NLE1, NLGN2, NLRP1, NOL11, NOTUM, NPB, NPEPPS, NPLOC4, NPTX1, NR1D1, NSF, NSRP1, NT5C, NT5C3B, NTN1, NUP85, NUP88, OGFOD3, OR1A1, OR1A2, OR1D5, OR1E2, OR3A2, OR3A3, OR4D1, OR4D2, OSBPL7, OTOP2, OTOP3, PCTP, PELP1, PEMT, PER1, PFAS, PGAP3, PGS1, PIK3R5, PIK3R6, PITPNM3, PLCD3, PLD2, PLEKHH3, PLEKHM1, PMP22, PNPO, POLDIP2, POLR2A, PPP1R9B, PRKCA, PSMB6, PSMC5, PSMD12, PTGES3L-AARSD1, PYCR1, PYY, RAB11FIP4, RABEP1, RAD51D, RAI1, RAMP2, RAP1GAP2, RBFOX3, RDM1, RECQL5, RFNG, RHBDF2, RNF135, RNF157, RNF213, RNF222, RNF43, RP11-1055B8.7, RP11-1407O15.2, RP11-385D13.1, RP11-477N12.3, RP11-51L5.7, RPA1, RPS6KB1, RPTOR, RTN4RL1, RUNDC1, RUNDC3A, SARM1, SCARF1, SCN4A, SCPEP1, SCRN2, SDK2, SEC14L1, SECTM1, SENP3, SEPT4, SEPT9, SERPINF1, SEZ6, SGSH, SHMT1, SHPK, SIRT7, SLC16A13, SLC16A3, SLC16A5, SLC16A6, SLC25A19, SLC25A39, SLC35G6, SLC38A10, SLC39A11, SLC43A2, SLC46A1, SLC4A1, SLC52A1, SLC5A10, SLFN11, SLFN12L, SLFN13, SLFN14, SMARCD2, SMARCE1, SMCR8, SMG6, SMTNL2, SMURF2, SMYD4, SNF8, SOCS7, SOX9, SPAG9, SPATA20, SPATA22, SPATA32, SPECC1, SPEM1, SPHK1, SPNS2, SPNS3, SPPL2C, SRCIN1, SREBF1, SRSF2, STARD3, STAT5A, STRADA, STX8, STXBP4, SUPT6H, SYNGR2, SYNRG, TAF15, TAOK1, TBC1D16, TBC1D28, TBC1D29, TBCD, TBKBP1, TBX2, TCAP, TEKT3, TEX14, TLCD2, TM4SF5, TMC6, TMC8, TMEM104, TMEM107, TMEM235, TMEM256-PLSCR3, TMEM92, TMEM99, TNFRSF13B, TNFSF12, TNK1, TOB1, TOP3A, TP53, TRIM16, TRIM25, TRIM37, TRIM47, TRIM65, TRPV1, TRPV3, TSEN54, TSPAN10, TTLL6, TUSC5, TVP23B, TVP23C, UBBP4, UBE2O, ULK2, UNC13D, UNC45B, UNK, USP22, USP32, USP36, USP6, UTP18, VEZF1, VMO1, VPS53, VTN, WDR16, WFIKKN2, WIPF2, WIPI1, WNK4, WNT9B, WRAP53, WSCD1, YBX2, ZACN, ZBTB4, ZNF286A, ZNF286B, ZNF652, ZNF750, ZNF830, ZPBP2, ZZEF1,

Genes at Omim

ABCA5, ACACA, ACE, ACTG1, ALDH3A2, ARSG, ASPSCR1, AXIN2, B9D1, BPTF, BRIP1, CACNA1G, CANT1, CARD14, CBX2, CCDC40, CCL11, CD79B, CHD3, CHRNE, COG1, COL1A1, COX10, CSH1, CTC1, CTNS, DCXR, DGKE, DNAH9, DNAI2, DPH1, ENO3, ERAL1, ERBB2, GAA, GH1, GP1BA, GUCY2D, HOXB1, HOXB13, ITGA3, ITGB4, JUP, KANSL1, KIAA0753, KIF1C, KLHL10, KRT10, KRT13, KRT14, KRT16, KRT17, KRT9, MAPT, MEOX1, MRPS7, MYH2, MYH3, MYH8, MYO15A, NAGLU, NF1, NLRP1, NTN1, NUP85, PGAP3, PIK3R5, PITPNM3, PLEKHM1, PMP22, PNPO, PRKCA, PSMD12, PYCR1, RAD51D, RAI1, RHBDF2, RNF213, RNF43, SCN4A, SEPT9, SERPINF1, SGSH, SHPK, SLC25A19, SLC46A1, SLC4A1, SLC52A1, SLFN14, SMARCD2, SMARCE1, SOX9, STRADA, TAF15, TBCD, TBX2, TCAP, TEX14, TMC6, TMC8, TMEM107, TNFRSF13B, TOP3A, TP53, TRIM37, TRPV3, TSEN54, UNC13D, UNC45B, VPS53, WNK4, WRAP53, 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)
ACTG1 Baraitser-Winter syndrome 2, 614583 (3)
Deafness, autosomal dominant 20/26, 604717 (3)
ALDH3A2 Sjogren-Larsson syndrome, 270200 (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)
BPTF Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755 (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)
CCL11 {HIV1, resistance to}, 609423 (3)
{Asthma, susceptibility to}, 600807 (3)
CD79B Agammaglobulinemia 6, 612692 (3)
CHD3 Snijders Blok-Campeau syndrome, 618205 (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)
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)
CSH1 [Placental lactogen deficiency] (1)
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)
DCXR [Pentosuria], 260800 (3)
DGKE {Hemolytic uremic syndrome, atypical, susceptibility to, 7}, 615008 (3)
Nephrotic syndrome, type 7, 615008 (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)
ENO3 ?Glycogen storage disease XIII, 612932 (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)
GAA Glycogen storage disease II, 232300 (3)
GH1 Growth hormone deficiency, isolated, type IA, 262400 (3)
Growth hormone deficiency, isolated, type IB, 612781 (3)
Growth hormone deficiency, isolated, type II, 173100 (3)
Kowarski syndrome, 262650 (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)
GUCY2D Cone-rod dystrophy 6, 601777 (3)
Leber congenital amaurosis 1, 204000 (3)
?Choroidal dystrophy, central areolar 1, 215500 (3)
HOXB1 Facial paresis, hereditary congenital, 3, 614744 (3)
HOXB13 {Prostate cancer, hereditary, 9}, 610997 (3)
ITGA3 Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 (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)
KRT17 Pachyonychia congenita 2, 167210 (3)
Steatocystoma multiplex, 184500 (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)
MEOX1 Klippel-Feil syndrome 2, 214300 (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)
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)
NUP85 Nephrotic syndrome, type 17, 618176 (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)
PSMD12 Stankiewicz-Isidor syndrome, 617516 (3)
PYCR1 Cutis laxa, autosomal recessive, type IIB, 612940 (3)
Cutis laxa, autosomal recessive, type IIIB, 614438 (3)
RAD51D {Breast-ovarian cancer, familial, susceptibility to, 4}, 614291 (3)
RAI1 Smith-Magenis syndrome, 182290 (3)
RHBDF2 Tylosis with esophageal cancer, 148500 (3)
RNF213 {Moyamoya disease 2, susceptibility to}, 607151 (3)
RNF43 Sessile serrated polyposis cancer syndrome, 617108 (3)
SCN4A Hyperkalemic periodic paralysis, type 2, 170500 (3)
Hypokalemic periodic paralysis, type 2, 613345 (3)
Myasthenic syndrome, congenital, 16, 614198 (3)
Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3)
Paramyotonia congenita, 168300 (3)
SEPT9 Amyotrophy, hereditary neuralgic, 162100 (3)
Leukemia, acute myeloid, therapy-related (1)
Ovarian carcinoma (1)
SERPINF1 Osteogenesis imperfecta, type VI, 613982 (3)
SGSH Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900 (3)
SHPK [Sedoheptulokinase deficiency], 617213 (3)
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)
SMARCD2 Specific granule deficiency 2, 617475 (3)
SMARCE1 Coffin-Siris syndrome 5, 616938 (3)
{Meningioma, familial, susceptibility to}, 607174 (3)
SOX9 Campomelic dysplasia with autosomal sex reversal, 114290 (3)
Campomelic dysplasia, 114290 (3)
Acampomelic campomelic dysplasia, 114290 (3)
STRADA Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3)
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)
TCAP Cardiomyopathy, hypertrophic, 25, 607487 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 7, 601954 (3)
TEX14 ?Spermatogenic failure 23, 617707 (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)
TRIM37 Mulibrey nanism, 253250 (3)
TRPV3 Olmsted syndrome, 614594 (3)
?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400 (3)
TSEN54 Pontocerebellar hypoplasia type 2A, 277470 (3)
Pontocerebellar hypoplasia type 4, 225753 (3)
?Pontocerebellar hypoplasia type 5, 610204 (3)
UNC13D Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)
UNC45B ?Cataract 43, 616279 (3)
VPS53 Pontocerebellar hypoplasia, type 2E, 615851 (3)
WNK4 Pseudohypoaldosteronism, type IIB, 614491 (3)
WRAP53 Dyskeratosis congenita, autosomal recessive 3, 613988 (3)
ZNF750 Seborrhea-like dermatitis with psoriasiform elements, 610227 (3)

Genes at Clinical Genomics Database

ABCA5, ACE, ACTG1, ALDH3A2, AXIN2, B9D1, BRIP1, CACNA1G, CANT1, CARD14, CBX2, CCDC137, CCDC40, CD79B, CHRNE, COG1, COL1A1, COX10, CTC1, CTNS, DCXR, DGKE, DNAI2, DPH1, ENO3, GAA, GH1, GP1BA, GUCY2D, HOXB1, ITGA3, ITGB4, JUP, KANSL1, KIF1C, KLHL10, KRT10, KRT13, KRT14, KRT16, KRT17, KRT9, MAPT, MEOX1, MYH2, MYH3, MYH8, MYO15A, NAGLU, NF1, NLRP1, PGAP3, PIK3R5, PITPNM3, PLEKHM1, PMP22, PNPO, PYCR1, RAD51D, RAI1, RHBDF2, RNF135, RNF213, SCN4A, SEPT9, SERPINF1, SGSH, SLC25A19, SLC46A1, SLC4A1, SLC52A1, SLFN14, SMARCE1, SOX9, STRADA, TCAP, TMC6, TMC8, TNFRSF13B, TP53, TRIM37, TRPV3, TSEN54, UNC13D, UNC45B, VPS53, WNK4, WRAP53, ZNF750,
ABCA5 Hypertrichosis terminalis, generalized, with or without gingival hyperplasia
ACE Renal tubular dysgenesis
ACE serum levels
ACTG1 Deafness, autosomal dominant 20
Baraitser-Winter syndrome 2
ALDH3A2 Sjogren-Larsson syndrome
AXIN2 Oligodontia-colorectal cancer syndrome
B9D1 Meckel syndrome 9
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
CHRNE Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
Myasthenic syndrome, fast-channel congenital
Myasthenic syndrome, slow-channel congenital
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
DCXR Pentosuria
DGKE Nephrotic syndrome, type 7
DNAI2 Ciliary dyskinesia, primary, 9
DPH1 Developmental delay with short stature, dysmorphic features, and sparse hair
ENO3 Glycogen storage disease XIII
GAA Glycogen storage disease II
GH1 Isolated growth hormone deficiency, isolated, type IA
Isolated growth hormone deficiency, type 1B
Growth hormone deficiency, isolated, type II
Kowarski syndrome
GP1BA Bernard-Soulier syndrome, type A2
Bernard-Soulier syndrome, type A1
Pseudo-von Willebrand disease
GUCY2D Cone-rod dystrophy 6
Leber congenital amaurosis, type 1
Cone-Rod dystrophy, autosomal recessive
HOXB1 Facial paresis, hereditary congenital, 3
ITGA3 Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
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
KRT17 Steatocystoma multiplex
Pachyonychia congenita 2
KRT9 Palmoplantar keratoderma, epidermolytic
Knuckle pads
MAPT Supranuclear palsy, progressive
Frontotemporal dementia
Parkinson-dementia sydnrome
Pick disease
MEOX1 Klippel-Feil syndrome 2
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)
NF1 Neurofibromatosis type 1, Neurofibromatosis-Noonan syndrome
Watson syndrome
NLRP1 Corneal intraepithelial dyskeratosis and ectodermal dysplasia
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
PYCR1 Cutis laxa, autosomal recessive, type IIB
Cutis laxa, autosomal recessive type IIIB
RAD51D Ovarian cancer, familial, susceptibility to
RAI1 Smith-Magenis syndrome
RHBDF2 Tylosis with esophageal cancer
RNF135 Macrocephaly, macrosomia, facial dysmorphism syndrome
RNF213 Moyamoya disease 2
SCN4A Paramyotonia congenita
Hyperkalemic periodic paralysis, type 2
Hypokalemic periodic paralysis, type 2
Normokalemic potassium-sensitive periodic paralysis
Malignant hyperthermia, susceptibility to
Myasthenic syndrome, congenital, 16
Myotonia, potassium-aggravated
SEPT9 Amyotrophy, hereditary neuralgic
SERPINF1 Osteogenesis imperfecta, type VI
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
SMARCE1 Meningioma, familial, susceptibility to
SOX9 46, XY sex reversal 10
Campomelic dysplasia
STRADA Polyhydramnios, megalencephaly, and symptomatic epilepsy
TCAP Cardiomyopathy, dilated, 1N
Cardiomyopathy, familial hypertrophic 25
Muscular dystrophy, limb-girdle, type 2G
TMC6 Epidermodysplasia verruciformis
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
TRIM37 Mulibrey nanism
TRPV3 Olmsted syndrome
Palmoplantar keratoderma, nonepidermolytic focal 2
TSEN54 Pontocerebellar hypoplasia, type 2A
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 5
UNC13D Hemophagocytic lymphohistiocytosis, familial 3
UNC45B Cataract 43
VPS53 Pontocerebellar hypoplasia, type 2E
WNK4 Pseudohypoaldosteronism, type IIB
WRAP53 Dyskeratosis congenita, autosomal recessive 3
ZNF750 Seborrhea-like dermatitis with psoriasiform elements

Genes at HGMD

Summary

Number of Variants: 2607
Number of Genes: 549

Export to: CSV

AATK

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 ba exome 17 . 79093261 0.0 A G . 0/1 150 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None AATK|0.00450864|86.39%
View ba exome 17 rs7503604
dbSNP Clinvar
79095629 1736.0 C A . 1/1 148 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 ba exome 17 rs746215042,rs376907005
dbSNP Clinvar
79093270 3070.0 C CG... . 1/1 163 CODON_INSERTION MODERATE None 0.09036 None None None None None None AATK|0.00450864|86.39%

ABCA5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ba exome 17 rs536009
dbSNP Clinvar
67273882 1434.0 C A . 1/1 119 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 ba exome 17 rs557491
dbSNP Clinvar
67267317 2630.0 T C . 1/1 214 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ba exome 17 rs7212506
dbSNP Clinvar
67101718 389.0 C T . 1/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.74780 0.74780 0.22058 0.42 0.00 None None None None None None ABCA6|0.006278632|84.32%

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 ba exome 17 rs1481
dbSNP Clinvar
66872802 1845.0 G C . 1/1 143 SYNONYMOUS_CODING LOW None 0.81350 0.81350 0.26980 None None None None None None ABCA8|0.008754907|81.9%
View ba exome 17 . 66871406 1.0 C A . 0/1 10 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.95 None None None None None None ABCA8|0.008754907|81.9%

ABCA9

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 ba exome 17 rs2302291
dbSNP Clinvar
67028260 1522.0 T C . 1/1 124 SYNONYMOUS_CODING LOW None 0.40695 0.40690 0.47932 None None None None None None ABCA9|0.017284198|75.69%
View ba exome 17 rs2302294
dbSNP Clinvar
66985992 1612.0 T G . 1/1 123 NON_SYNONYMOUS_CODING MODERATE None 0.41334 0.41330 0.48347 0.02 0.46 None None None None None None ABCA9|0.017284198|75.69%
View ba exome 17 rs1860447
dbSNP Clinvar
67031457 1352.0 C T . 1/1 105 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%

ABCC3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ba exome 17 rs9890046
dbSNP Clinvar
48712711 1761.0 C G . 1/1 142 None None None 0.87740 0.87740 0.00 None None None None None None ABCC3|0.044769991|64.26%
View ba exome 17 rs12604031
dbSNP Clinvar
48712705 1680.0 G A . 1/1 144 None None None 0.76378 0.76380 0.00 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 ba exome 17 rs542939
dbSNP Clinvar
27889986 2152.0 T C . 1/1 178 NON_SYNONYMOUS_CODING MODERATE None 0.76797 0.76800 0.30571 1.00 0.00 None None None None None None ABHD15|0.102676834|50.66%

ABI3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ba exome 17 rs616338
dbSNP Clinvar
47297297 1028.0 T C . 1/1 79 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ba exome 17 rs2262150
dbSNP Clinvar
970413 1053.0 C T . 1/1 84 SYNONYMOUS_CODING LOW None 0.89697 0.89700 0.13425 None None None None None None ABR|0.634601907|10.64%

AC005544.1

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 ba exome 17 rs740555
dbSNP Clinvar
65027740 2197.0 G C . 1/1 171 NON_SYNONYMOUS_CODING MODERATE None 0.34984 0.34980 0.00 None None None None None None CACNG4|0.127367032|46.28%

AC040977.1

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 ba exome 17 . 6917741 0.0 T G . 0/1 4 SYNONYMOUS_CODING LOW None None None None None None None RNASEK|0.057333942|60.59%,RNASEK-C17orf49|0.371919774|22.61%
View ba exome 17 rs7338
dbSNP Clinvar
6917703 109.0 C T . 1/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.76378 0.76380 0.07 0.92 None None None None None None RNASEK|0.057333942|60.59%,RNASEK-C17orf49|0.371919774|22.61%

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 ba exome 17 . 76422818 0.0 C A . 0/1 13 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None DNAH17|0.043900967|64.55%

AC079210.1

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 ba exome 17 rs774063292
dbSNP Clinvar
66540005 0.0 G C . 0/1 11 NON_SYNONYMOUS_CODING MODERATE None 0.41 None None None None None None PRKAR1A|0.772442461|6.49%,FAM20A|0.134865834|45.12%
View ba exome 17 . 66540053 0.0 G T . 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.41 None None None None None None PRKAR1A|0.772442461|6.49%,FAM20A|0.134865834|45.12%

AC090616.2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ba exome 17 . 30469499 10.0 C A . 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None RHOT1|0.726362207|7.79%
View ba exome 17 rs1023885023
dbSNP Clinvar
30469497 12.0 G A . 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.83 None None None None None None RHOT1|0.726362207|7.79%

AC129492.6

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 ba exome 17 rs2304907
dbSNP Clinvar
7983799 1595.0 A G . 1/1 123 SYNONYMOUS_CODING LOW None 0.45986 0.45990 None None None None None None ALOX12B|0.051252104|62.25%

ACACA

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 ba exome 17 rs58654829
dbSNP Clinvar
35696804 809.0 G A . 1/1 67 SYNONYMOUS_CODING LOW None 0.58546 0.58550 0.34776 None None None None None None ACACA|0.94269074|2.39%
View ba exome 17 rs1470452
dbSNP Clinvar
35478362 2550.0 T C . 1/1 202 SYNONYMOUS_CODING LOW None 1.00000 1.00000 0.00108 None None None None None None ACACA|0.94269074|2.39%
View ba exome 17 rs2229416
dbSNP Clinvar
35609866 3070.0 C T . 1/1 271 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
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ba exome 17 rs4796407
dbSNP Clinvar
7245371 1252.0 A G . 1/1 106 SYNONYMOUS_CODING LOW None 0.31490 0.31490 0.40697 None None None None None None ACAP1|0.086299912|53.89%

ACE

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ba exome 17 . 61562455 0.0 T G . 0/1 96 None None None 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 ba exome 17 . 40048535 0.0 G C . 0/1 167 SYNONYMOUS_CODING LOW None None None None None None None ACLY|0.44685425|18.3%
View ba exome 17 rs8065502
dbSNP Clinvar
40048613 2900.0 A G . 1/1 230 SYNONYMOUS_CODING LOW None 0.90435 0.90440 0.12479 None None None None None None ACLY|0.44685425|18.3%

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 ba exome 17 . 48539818 0.0 C G . 0/1 164 NON_SYNONYMOUS_CODING MODERATE None 0.47 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 ba exome 17 rs1135989
dbSNP Clinvar
79478007 1650.0 G A . 1/1 133 SYNONYMOUS_CODING LOW None 0.18530 0.18530 0.31639 None None None None None None ACTG1|0.983116739|1.38%
View ba exome 17 rs1139405
dbSNP Clinvar
79478019 1549.0 G A . 1/1 126 SYNONYMOUS_CODING LOW None 0.75619 0.75620 0.24543 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 ba exome 17 rs1558084
dbSNP Clinvar
42852610 1789.0 T C . 1/1 149 SYNONYMOUS_CODING LOW None 0.90495 0.90500 0.10518 None None None None None None ADAM11|0.131633893|45.66%

ADPRM

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ba exome 17 rs406446
dbSNP Clinvar
10614442 632.0 A G . 1/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.48722 0.48720 0.48770 0.09 0.02 None None None None None None ADPRM|0.084888375|54.22%,TMEM220|0.046283396|63.81%

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 ba exome 17 rs1050515
dbSNP Clinvar
55183716 839.0 T C . 1/1 62 SYNONYMOUS_CODING LOW None 0.59066 0.59070 0.45917 None None None None None None AKAP1|0.039700237|65.85%
View ba exome 17 rs2230772
dbSNP Clinvar
55183203 2041.0 T C . 1/1 171 SYNONYMOUS_CODING LOW None 0.47824 0.47820 0.39136 None None None None None None AKAP1|0.039700237|65.85%

ALDH3A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ba exome 17 rs887241
dbSNP Clinvar
19645938 2588.0 A C . 1/1 215 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 ba exome 17 rs2072330
dbSNP Clinvar
19644472 739.0 A T . 1/1 67 SYNONYMOUS_CODING LOW None 0.29074 0.29070 0.30186 None None None None None None ALDH3A1|0.032163878|68.52%

ALDH3A2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ba exome 17 rs1800869
dbSNP Clinvar
19564634 1733.0 C G . 1/1 132 None None None 0.22784 0.22780 0.00 None None None None None None ALDH3A2|0.089181599|53.41%
View ba exome 17 rs7216
dbSNP Clinvar
19578873 2042.0 A T . 1/1 161 SPLICE_SITE_REGION LOW None 0.67851 0.67850 0.44933 None None None None None None ALDH3A2|0.089181599|53.41%

ALOX12

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ba exome 17 rs1126667
dbSNP Clinvar
6902760 1804.0 A G . 1/1 156 NON_SYNONYMOUS_CODING MODERATE None 0.60403 0.60400 0.39190 0.40 0.00 None None None None None None ALOX12|0.072773622|56.83%
View ba exome 17 rs1042356
dbSNP Clinvar
6902743 1882.0 G A . 1/1 169 SYNONYMOUS_CODING LOW None 0.60184 0.60180 0.39466 None None None None None None ALOX12|0.072773622|56.83%
View ba exome 17 rs1042357
dbSNP Clinvar
6905061 1858.0 T G . 1/1 153 SYNONYMOUS_CODING LOW None 0.57228 0.57230 0.42734 None None None None None None ALOX12|0.072773622|56.83%
View ba exome 17 rs312467
dbSNP Clinvar
6899559 633.0 C G . 1/1 44 SYNONYMOUS_CODING LOW None 0.00140 0.94930 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 ba exome 17 . 4541579 0.0 A G . 0/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.99 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 ba exome 17 rs4792147
dbSNP Clinvar
7951819 1287.0 A G . 1/1 102 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 ba exome 17 rs9898751
dbSNP Clinvar
7950952 1233.0 C A . 1/1 99 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.44748 0.44750 0.44649 None None None None None None ALOX15B|0.008183706|82.49%
View ba exome 17 rs11541083
dbSNP Clinvar
7950377 594.0 C T . 1/1 48 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.24840 0.24840 0.26411 None None None None None None ALOX15B|0.008183706|82.49%
View ba exome 17 rs6503070
dbSNP Clinvar
7948175 1169.0 C T . 1/1 92 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.59724 0.59720 0.44572 6.72 0.02 0.40915 T None None None None ALOX15B|0.008183706|82.49%
View ba exome 17 . 7945782 0.0 C A . 0/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.20 None None None None None None ALOX15B|0.008183706|82.49%

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 ba exome 17 rs7105
dbSNP Clinvar
66253095 498.0 T A . 1/1 36 SYNONYMOUS_CODING LOW None 0.37061 0.37060 0.31332 None None None None None None AMZ2|0.012004494|79.24%
View ba exome 17 rs3213690
dbSNP Clinvar
66246416 991.0 A G . 1/1 74 NON_SYNONYMOUS_CODING MODERATE None 0.79792 0.79790 0.24127 1.00 0.00 None None None None None None AMZ2|0.012004494|79.24%

ANKFN1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ba exome 17 rs957724
dbSNP Clinvar
54450038 268.0 C A . 1/1 17 SYNONYMOUS_CODING LOW None 0.61562 0.61560 0.46432 None None None None None None ANKFN1|0.698610051|8.53%
View ba exome 17 rs10852985
dbSNP Clinvar
54534634 419.0 G A . 1/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.75160 0.75160 0.30403 0.16 0.46 None None None None None None ANKFN1|0.698610051|8.53%
View ba exome 17 rs8069322
dbSNP Clinvar
54450134 504.0 G A . 1/1 40 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ba exome 17 rs2020118
dbSNP Clinvar
4088291 2241.0 C T . 1/1 177 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ba exome 17 rs4581
dbSNP Clinvar
64210757 1876.0 C A . 1/1 148 NON_SYNONYMOUS_CODING MODERATE None 0.54153 0.54150 0.32969 0.69 0.00 None None None None None None APOH|0.076233012|56.02%

ARHGAP23

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ba exome 17 rs62074752
dbSNP Clinvar
36666551 1231.0 T C . 1/1 97 SYNONYMOUS_CODING LOW None 0.83746 0.83750 None None None None None None ARHGAP23|0.124657713|46.71%
View ba exome 17 . 36638383 1.0 A G . 0/1 9 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.35 0.23 None None None None None None ARHGAP23|0.124657713|46.71%
View ba exome 17 rs8075324
dbSNP Clinvar
36622482 1898.0 G C . 1/1 154 SYNONYMOUS_CODING LOW None 0.29872 0.29870 None None None None None None ARHGAP23|0.124657713|46.71%
View ba exome 17 . 36636020 1.0 C G . 0/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.87 None None None None None None ARHGAP23|0.124657713|46.71%
View ba exome 17 . 36636034 4.0 T G . 0/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.31 0.39 None None None None None None ARHGAP23|0.124657713|46.71%
View ba exome 17 rs9891156
dbSNP Clinvar
36646386 366.0 A G . 1/1 24 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ba exome 17 rs117139057
dbSNP Clinvar
43472825 1184.0 G C . 1/1 89 NON_SYNONYMOUS_CODING MODERATE None 0.07348 0.07348 0.05734 0.00 0.25 None None None None None None ARHGAP27|0.041158202|65.39%

ARHGEF15

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ba exome 17 . 8215399 0.0 G A . 0/1 11 SYNONYMOUS_CODING LOW None 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 ba exome 17 . 4623864 0.0 T C . 0/1 82 None None None None None None None None None ARRB2|0.726219786|7.8%
View ba exome 17 . 4623850 0.0 A C . 0/1 89 None None None 0.29 0.00 None None None None None None ARRB2|0.726219786|7.8%
View ba exome 17 . 4623856 0.0 A C . 0/1 78 None None None 0.22 0.00 None None None None None None ARRB2|0.726219786|7.8%
View ba exome 17 . 4623858 0.0 A C . 0/1 79 None None None None None None None None None ARRB2|0.726219786|7.8%

ARSG

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 ba exome 17 rs1558876
dbSNP Clinvar
66364691 294.0 C G . 1/1 20 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.27596 0.27600 0.36545 0.70 0.00 None None None None None None ARSG|0.038924858|66.13%
View ba exome 17 rs1558878
dbSNP Clinvar
66364804 2189.0 T C . 1/1 184 NON_SYNONYMOUS_CODING MODERATE None 0.35943 0.35940 0.44595 1.00 0.00 None None None None None None ARSG|0.038924858|66.13%
View ba exome 17 rs1558877
dbSNP Clinvar
66364749 1009.0 T C . 1/1 82 SYNONYMOUS_CODING LOW None 0.51138 0.51140 0.43964 None None None None None None ARSG|0.038924858|66.13%

ASB16

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ba exome 17 rs7217858
dbSNP Clinvar
42254527 1558.0 T G . 1/1 121 NON_SYNONYMOUS_CODING MODERATE None 0.51917 0.51920 0.36072 0.51 0.00 None None None None None None ASB16|0.091388506|52.96%
View ba exome 17 rs7218599
dbSNP Clinvar
42248346 1236.0 A T . 1/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.92652 0.92650 0.10149 0.07 0.00 None None None None None None ASB16|0.091388506|52.96%
View ba exome 17 rs7212573
dbSNP Clinvar
42254281 1101.0 A G . 1/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.51797 0.51800 0.39450 1.00 0.00 None None None None None None ASB16|0.091388506|52.96%

ASIC2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ba exome 17 rs2228989
dbSNP Clinvar
32483270 1787.0 C G . 1/1 140 None None None 0.23223 0.23220 0.14789 None None None None None None ASIC2|0.867321872|4.31%
View ba exome 17 rs9893935
dbSNP Clinvar
31618732 2141.0 A G . 1/1 178 SYNONYMOUS_CODING LOW None 0.55990 0.55990 0.48428 None None None None None None ASIC2|0.867321872|4.31%
View ba exome 17 rs2228990
dbSNP Clinvar
32483237 1435.0 A G . 1/1 111 None None None 0.27217 0.27220 0.18811 None None None None None None ASIC2|0.867321872|4.31%

ASPSCR1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ba exome 17 rs13087
dbSNP Clinvar
79974731 1405.0 T C . 1/1 108 SYNONYMOUS_CODING LOW None 0.58027 0.58030 0.35362 None None None None None None ASPSCR1|0.049924579|62.68%
View ba exome 17 rs116149334
dbSNP Clinvar
79952700 2017.0 G A . 1/1 176 SYNONYMOUS_CODING LOW None 0.04772 0.04772 0.04421 6.09 0.03 0.52092 D None None None None ASPSCR1|0.049924579|62.68%

ATAD5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ba exome 17 rs143006132
dbSNP Clinvar
29161990 1481.0 C T . 1/1 122 SYNONYMOUS_CODING LOW None 0.01777 0.01777 0.02261 None None None None None None ATAD5|0.264597723|30.33%

ATP1B2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ba exome 17 rs117613045
dbSNP Clinvar
7558895 1542.0 C T . 1/1 122 SYNONYMOUS_CODING LOW None 0.00739 0.00739 0.01968 None None None None None None ATP1B2|0.217295492|34.69%

ATP2A3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ba exome 17 . 3844269 3070.0 GC G . 0/1 236 FRAME_SHIFT HIGH None None None None None None None ATP2A3|0.0615045|59.44%

AURKB

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 ba exome 17 rs1059476
dbSNP Clinvar
8108331 2205.0 A G . 1/1 175 NON_SYNONYMOUS_CODING MODERATE None 0.73602 0.73600 0.17815 0.44 0.00 None None None None None None AURKB|0.524730103|14.76%
View ba exome 17 rs2241909
dbSNP Clinvar
8108339 2208.0 G A . 1/1 180 SYNONYMOUS_CODING LOW None 0.62081 0.62080 0.38167 None None None None None None AURKB|0.524730103|14.76%

AXIN2

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 ba exome 17 rs9915936
dbSNP Clinvar
63533789 1585.0 T C . 1/1 125 SYNONYMOUS_CODING LOW None 0.90974 0.90970 0.08912 None None None None None None AXIN2|0.837375797|4.92%
View ba exome 17 rs1133683
dbSNP Clinvar
63533768 1569.0 G A . 1/1 126 SYNONYMOUS_CODING LOW None 0.44609 0.44610 0.45993 None None None None None None AXIN2|0.837375797|4.92%

AZI1

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 ba exome 17 rs2659015
dbSNP Clinvar
79173184 912.0 T C . 1/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.94070 0.94070 0.05563 1.00 0.00 None None None None None None CEP131|0.010879041|80.18%
View ba exome 17 rs2466773
dbSNP Clinvar
79174221 943.0 T C . 1/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.94409 0.94410 0.05255 1.00 0.00 None None None None None None CEP131|0.010879041|80.18%
View ba exome 17 rs2725419
dbSNP Clinvar
79173224 1521.0 T C . 1/1 117 SYNONYMOUS_CODING LOW None 0.90935 0.90930 0.08224 None None None None None None CEP131|0.010879041|80.18%
View ba exome 17 . 79168747 0.0 A G . 0/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.04 0.06 None None None None None None CEP131|0.010879041|80.18%
View ba exome 17 rs62075318
dbSNP Clinvar
79182778 1210.0 T C . 1/1 95 SYNONYMOUS_CODING LOW None 0.41853 0.41850 0.34623 None None None None None None CEP131|0.010879041|80.18%
View ba exome 17 rs2659016
dbSNP Clinvar
79171967 666.0 A G . 1/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.96765 0.96770 0.03054 0.56 0.00 None None None None None None CEP131|0.010879041|80.18%
View ba exome 17 rs61741549
dbSNP Clinvar
79169670 796.0 C T . 1/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.01757 0.01757 0.01746 0.91 0.06 None None None None None None CEP131|0.010879041|80.18%
View ba exome 17 rs2292182
dbSNP Clinvar
79163649 1032.0 G A . 1/1 78 None None None 0.20228 0.20230 0.20091 None None None None None None CEP131|0.010879041|80.18%

B3GNTL1

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 ba exome 17 rs7225887
dbSNP Clinvar
80904844 953.0 C T . 1/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.15595 0.15600 0.16366 0.53 0.01 None None None None None None B3GNTL1|0.011137192|79.94%

B4GALNT2

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 ba exome 17 rs7207403
dbSNP Clinvar
47210506 1527.0 C A . 1/1 127 NON_SYNONYMOUS_CODING MODERATE None 0.43111 0.43110 0.44411 0.93 0.00 None None None None None None B4GALNT2|0.038585126|66.26%