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Genes:
AATK, ABCA10, ABCA5, ABCA6, ABCA8, ABCA9, ABCC3, ABHD15, ABI3, ABR, ACACA, ACAP1, ACE, ACLY, ACOX1, ACSF2, ACTG1, ADAM11, ADPRM, AIPL1, AKAP1, ALDH3A1, ALOX12, ALOX15, ALOXE3, AMZ2, ANKFN1, ANKFY1, AP2B1, APOH, ARHGAP23, ARHGAP27, ARHGEF15, ARL5C, ARRB2, ARSG, ASB16, ASGR2, ASIC2, ASPSCR1, ATAD5, ATP1B2, ATP2A3, AURKB, AXIN2, AZI1, B4GALNT2, B9D1, BCAS3, BCL6B, BIRC5, BRCA1, BRIP1, BTBD17, BZRAP1, C17orf102, C17orf49, C17orf53, C17orf58, C17orf59, C17orf70, C17orf72, C17orf74, C17orf77, C17orf80, C17orf82, C17orf96, C17orf99, C1QTNF1, CA10, CACNA1G, CAMKK1, CAMTA2, CANT1, CARD14, CASKIN2, CBX2, CBX4, CBX8, CCDC137, CCDC144NL, CCDC40, CCDC57, CCL15, CCL23, CCL4, CCL8, CCT6B, CD300E, CD300LB, CD300LD, CD300LF, CD79B, CDR2L, CDRT15, CDRT4, CEP112, CLDN7, CLUH, CNP, CNTNAP1, CNTROB, COASY, COG1, COIL, COL1A1, COPRS, COPS3, COX10, CRK, CRYBA1, CSH2, CTC1, CTDNEP1, CTNS, CXCL16, DCAKD, DDC8, DDX52, DGKE, DHX33, DLG4, DLX3, DNAH17, DNAH2, DNAH9, DNAI2, DOC2B, DPH1, DRG2, DVL2, EFCAB13, EFCAB3, EFCAB5, EFTUD2, EIF4A1, EIF4A3, EIF5A, ELAC2, EME1, ENGASE, ENO3, ENPP7, ENTHD2, EPN2, EPN3, EPX, ERAL1, ERBB2, ERN1, EVI2A, EVPL, FAM104A, FAM64A, FAM83G, FASN, FBF1, FBXO39, FBXO47, FDXR, FMNL1, FN3K, FN3KRP, FNDC8, FOXK2, FOXN1, FSCN2, FTSJ3, G6PC3, GAA, GAS2L2, GAST, GEMIN4, GFAP, GGA3, GGT6, GH2, GID4, GIP, GJD3, GLTPD2, GOSR2, GPATCH8, GPR142, GPS2, GRB7, GRIN2C, GSDMA, GSDMB, H3F3B, HAP1, HDAC5, HELZ, HEXIM1, HID1, HIGD1B, HOXB1, HOXB13, HOXB3, HOXB5, HOXB7, HSD17B1, HSF5, ICT1, IFI35, IGFBP4, IKZF3, INTS2, ITGA2B, ITGAE, ITGB4, JUP, KANSL1, KAT7, KCNH6, KCNJ12, KDM6B, KIAA0100, KIAA0195, KIAA0753, KIF19, KIF2B, KLHL10, KLHL11, KPNA2, KRT10, KRT12, KRT13, KRT14, KRT15, KRT16, KRT19, KRT24, KRT25, KRT27, KRT28, KRT32, KRT33A, KRT35, KRT36, KRT37, KRT38, KRT39, KRT40, KRT9, KRTAP1-1, KRTAP1-3, KRTAP16-1, KRTAP17-1, KRTAP4-1, KRTAP4-2, KRTAP4-4, KRTAP4-9, KRTAP9-1, KRTAP9-3, KSR1, LASP1, LEPREL4, LGALS3BP, LGALS9, LIMD2, LLGL1, LLGL2, LPO, LRRC37A2, LRRC48, LRRC59, LSMD1, MAP2K3, MAP2K6, MARCH10, MBTD1, MED13, METRNL, MFSD6L, MGAT5B, MINK1, MLLT6, MLX, MMP28, MNT, MPP2, MPP3, MPRIP, MRC2, MRM1, MRPL10, MRPL38, MYADML2, MYBBP1A, MYCBPAP, MYH1, MYH10, MYH13, MYH3, MYH8, MYO15A, MYO18A, MYO19, MYO1C, NAGLU, NAGS, NBR1, NEK8, NEURL4, NF1, NGFR, NLE1, NLGN2, NLRP1, NMT1, NOS2, NPLOC4, NPTX1, NSRP1, NT5C3B, NT5M, NUP85, NUP88, ODF4, OMG, OR1A1, OR1A2, OR1D2, OR1D5, OR1E1, OR1E2, OR3A1, OSBPL7, OTOP2, OTOP3, P2RX5, PCGF2, PCTP, PELP1, PEMT, PER1, PFAS, PGAP3, PGS1, PIGW, PIK3R5, PITPNM3, PLCD3, PLD2, PLEKHH3, PLXDC1, PNPO, POLG2, POLR2A, PPM1E, PPP1R9B, PRKCA, PRPSAP2, PSMB3, PSMC5, PSMD12, PTGES3L-AARSD1, PYCR1, PYY, QRICH2, RABEP1, RAI1, RAP1GAP2, RARA, RECQL5, RFNG, RHBDF2, RNF157, RNF213, RNF222, RNF43, RNFT1, RNMTL1, RP11-1055B8.7, RPA1, RPAIN, RPH3AL, RPTOR, RSAD1, RTN4RL1, RUNDC1, RUNDC3A, SARM1, SAT2, SCARF1, SCIMP, SCN4A, SCPEP1, SCRN2, SDK2, SEC14L1, SECTM1, SEPT9, SERPINF1, SGSH, SGSM2, SHPK, SIRT7, SKAP1, SLC13A2, SLC16A13, SLC16A3, SLC16A5, SLC16A6, SLC25A10, SLC25A19, SLC25A39, SLC2A4, SLC35G6, SLC38A10, SLC39A11, SLC43A2, SLC46A1, SLC4A1, SLC52A1, SLC5A10, SLFN11, SLFN12, SLFN14, SMG6, SMG8, SMTNL2, SMYD4, SPATA20, SPATA22, SPATA32, SPECC1, SPHK1, SPNS3, SPPL2C, SRSF2, ST6GALNAC2, STARD3, STAT5B, STX8, STXBP4, SUPT6H, SUZ12, SYNRG, TADA2A, TANC2, TAOK1, TAX1BP3, TBC1D16, TBC1D26, TBC1D28, TBCD, TBX2, TBX21, TCAP, TEKT1, TEKT3, TEX14, TIAF1, TK1, TLCD1, TLCD2, TMC8, TMEM104, TMEM235, TMEM256-PLSCR3, TMEM92, TMEM99, TNFRSF13B, TNFSF12, TNFSF12-TNFSF13, TNK1, TOB1, TP53, TRAF4, TRIM25, TRIM47, TRIM65, TRPV1, TRPV3, TSEN54, TSPAN10, TTC19, TTYH2, TUBD1, TUBG2, TVP23B, TVP23C, UBB, UBE2Z, UBTF, ULK2, UNC13D, UNC45B, UNK, USP22, USP36, USP43, USP6, UTP6, VAT1, VEZF1, VMO1, VPS53, VTN, WDR16, WDR45B, WDR81, WFIKKN2, WIPI1, WNK4, WNT9B, WSB1, WSCD1, XAF1, XYLT2, ZACN, ZNF286B, ZNF287, ZNF594, ZNF750, ZNF830, ZPBP2,

Genes at Omim

ABCA5, ACACA, ACE, ACOX1, ACTG1, AIPL1, ALOXE3, ARSG, ASPSCR1, AXIN2, B9D1, BRCA1, BRIP1, CACNA1G, CANT1, CARD14, CBX2, CCDC40, CD79B, CNTNAP1, COASY, COG1, COL1A1, COX10, CRYBA1, CTC1, CTNS, DGKE, DLX3, DNAH9, DNAI2, DPH1, EFTUD2, ELAC2, ENO3, EPX, ERAL1, ERBB2, FDXR, FOXN1, FSCN2, G6PC3, GAA, GEMIN4, GFAP, GOSR2, HOXB1, HOXB13, ITGA2B, ITGB4, JUP, KANSL1, KIAA0753, KLHL10, KRT10, KRT12, KRT13, KRT14, KRT16, KRT25, KRT9, MYH3, MYH8, MYO15A, NAGLU, NAGS, NEK8, NF1, NLRP1, NUP85, PGAP3, PIGW, PIK3R5, PITPNM3, PNPO, POLG2, PRKCA, PSMD12, PYCR1, QRICH2, RAI1, RARA, RHBDF2, RNF213, RNF43, SCN4A, SEPT9, SERPINF1, SGSH, SHPK, SLC25A19, SLC46A1, SLC4A1, SLC52A1, SLFN14, STAT5B, TBCD, TBX2, TBX21, TCAP, TEX14, TMC8, TNFRSF13B, TP53, TRPV3, TSEN54, TTC19, UBTF, UNC13D, UNC45B, VPS53, WDR45B, WDR81, WNK4, 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)
ACTG1 Baraitser-Winter syndrome 2, 614583 (3)
Deafness, autosomal dominant 20/26, 604717 (3)
AIPL1 Cone-rod dystrophy, 604393 (3)
Leber congenital amaurosis 4, 604393 (3)
Retinitis pigmentosa, juvenile, 604393 (3)
ALOXE3 Ichthyosis, congenital, autosomal recessive 3, 606545 (3)
ARSG Usher syndrome, type IV, 618144 (3)
ASPSCR1 Alveolar soft-part sarcoma, 606243 (3)
AXIN2 Colorectal cancer, somatic, 114500 (3)
Oligodontia-colorectal cancer syndrome, 608615 (3)
B9D1 Joubert syndrome 27, 617120 (3)
?Meckel syndrome 9, 614209 (3)
BRCA1 Fanconi anemia, complementation group S, 617883 (3)
{Pancreatic cancer, susceptibility to, 4}, 614320 (3)
{Breast-ovarian cancer, familial, 1}, 604370 (3)
BRIP1 Fanconi anemia, complementation group J, 609054 (3)
{Breast cancer, early-onset, susceptibility to}, 114480 (3)
CACNA1G Spinocerebellar ataxia 42, 616795 (3)
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087 (3)
CANT1 Desbuquois dysplasia 1, 251450 (3)
Epiphyseal dysplasia, multiple, 7, 617719 (3)
CARD14 Pityriasis rubra pilaris, 173200 (3)
Psoriasis 2, 602723 (3)
CBX2 ?46XY sex reversal 5, 613080 (3)
CCDC40 Ciliary dyskinesia, primary, 15, 613808 (3)
CD79B Agammaglobulinemia 6, 612692 (3)
CNTNAP1 Hypomyelinating neuropathy, congenital, 3, 618186 (3)
Lethal congenital contracture syndrome 7, 616286 (3)
COASY Neurodegeneration with brain iron accumulation 6, 615643 (3)
Pontocerebellar hypoplasia, type 12, 618266 (3)
COG1 Congenital disorder of glycosylation, type IIg, 611209 (3)
COL1A1 Caffey disease, 114000 (3)
Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060 (3)
Osteogenesis imperfecta, type I, 166200 (3)
Osteogenesis imperfecta, type II, 166210 (3)
Osteogenesis imperfecta, type III, 259420 (3)
Osteogenesis imperfecta, type IV, 166220 (3)
{Bone mineral density variation QTL, osteoporosis}, 166710 (3)
COX10 Leigh syndrome due to mitochondrial COX4 deficiency, 256000 (3)
Mitochondrial complex IV deficiency, 220110 (3)
CRYBA1 Cataract 10, multiple types, 600881 (3)
CTC1 Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3)
CTNS Cystinosis, atypical nephropathic, 219800 (3)
Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 (3)
Cystinosis, nephropathic, 219800 (3)
Cystinosis, ocular nonnephropathic, 219750 (3)
DGKE {Hemolytic uremic syndrome, atypical, susceptibility to, 7}, 615008 (3)
Nephrotic syndrome, type 7, 615008 (3)
DLX3 Amelogenesis imperfecta, type IV, 104510 (3)
Trichodontoosseous syndrome, 190320 (3)
DNAH9 Ciliary dyskinesia, primary, 40, 618300 (3)
DNAI2 Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3)
DPH1 Developmental delay with short stature, dysmorphic features, and sparse hair, 616901 (3)
EFTUD2 Mandibulofacial dysostosis, Guion-Almeida type, 610536 (3)
ELAC2 Combined oxidative phosphorylation deficiency 17, 615440 (3)
{Prostate cancer, hereditary, 2, susceptibility to}, 614731 (3)
ENO3 ?Glycogen storage disease XIII, 612932 (3)
EPX [Eosinophil peroxidase deficiency], 261500 (3)
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)
FDXR Auditory neuropathy and optic atrophy, 617717 (3)
FOXN1 T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3)
FSCN2 Retinitis pigmentosa 30, 607921 (3)
G6PC3 Dursun syndrome, 612541 (3)
Neutropenia, severe congenital 4, autosomal recessive, 612541 (3)
GAA Glycogen storage disease II, 232300 (3)
GEMIN4 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 (3)
GFAP Alexander disease, 203450 (3)
GOSR2 Epilepsy, progressive myoclonic 6, 614018 (3)
HOXB1 Facial paresis, hereditary congenital, 3, 614744 (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)
ITGB4 Epidermolysis bullosa of hands and feet, 131800 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3)
JUP Arrhythmogenic right ventricular dysplasia 12, 611528 (3)
Naxos disease, 601214 (3)
KANSL1 Koolen-De Vries syndrome, 610443 (3)
KIAA0753 ?Orofaciodigital syndrome XV, 617127 (3)
KLHL10 Spermatogenic failure 11, 615081 (3)
KRT10 Ichthyosis with confetti, 609165 (3)
Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)
Epidermolytic hyperkeratosis, 113800 (3)
KRT12 Meesmann corneal dystrophy, 122100 (3)
KRT13 White sponge nevus 2, 615785 (3)
KRT14 Dermatopathia pigmentosa reticularis, 125595 (3)
Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3)
Epidermolysis bullosa simplex, Koebner type, 131900 (3)
Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3)
Epidermolysis bullosa simplex, recessive 1, 601001 (3)
Naegeli-Franceschetti-Jadassohn syndrome, 161000 (3)
KRT16 Pachyonychia congenita 1, 167200 (3)
Palmoplantar keratoderma, nonepidermolytic, focal, 613000 (3)
KRT25 Woolly hair, autosomal recessive 3, 616760 (3)
KRT9 Palmoplantar keratoderma, epidermolytic, 144200 (3)
MYH3 Arthrogryposis, distal, type 2A, 193700 (3)
Arthrogryposis, distal, type 2B, 601680 (3)
Arthrogryposis, distal, type 8, 178110 (3)
MYH8 Carney complex variant, 608837 (3)
Trismus-pseudocamptodactyly syndrome, 158300 (3)
MYO15A Deafness, autosomal recessive 3, 600316 (3)
NAGLU Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3)
?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 (3)
NAGS N-acetylglutamate synthase deficiency, 237310 (3)
NEK8 Renal-hepatic-pancreatic dysplasia 2, 615415 (3)
?Nephronophthisis 9, 613824 (3)
NF1 Leukemia, juvenile myelomonocytic, 607785 (3)
Neurofibromatosis, familial spinal, 162210 (3)
Neurofibromatosis, type 1, 162200 (3)
Neurofibromatosis-Noonan syndrome, 601321 (3)
Watson syndrome, 193520 (3)
NLRP1 Autoinflammation with arthritis and dyskeratosis, 617388 (3)
{Vitiligo-associated multiple autoimmune disease susceptibility 1}, 606579 (3)
Palmoplantar carcinoma, multiple self-healing, 615225 (3)
NUP85 Nephrotic syndrome, type 17, 618176 (3)
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)
PNPO Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3)
POLG2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 (3)
PRKCA Pituitary tumor, invasive (3)
PSMD12 Stankiewicz-Isidor syndrome, 617516 (3)
PYCR1 Cutis laxa, autosomal recessive, type IIB, 612940 (3)
Cutis laxa, autosomal recessive, type IIIB, 614438 (3)
QRICH2 Spermatogenic failure 35, 618341 (3)
RAI1 Smith-Magenis syndrome, 182290 (3)
RARA Leukemia, acute promyelocytic, 612376 (1)
RHBDF2 Tylosis with esophageal cancer, 148500 (3)
RNF213 {Moyamoya disease 2, susceptibility to}, 607151 (3)
RNF43 Sessile serrated polyposis cancer syndrome, 617108 (3)
SCN4A Hyperkalemic periodic paralysis, type 2, 170500 (3)
Hypokalemic periodic paralysis, type 2, 613345 (3)
Myasthenic syndrome, congenital, 16, 614198 (3)
Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3)
Paramyotonia congenita, 168300 (3)
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)
STAT5B Growth hormone insensitivity with immunodeficiency, 245590 (3)
Leukemia, acute promyelocytic, somatic, 102578 (3)
TBCD Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3)
TBX2 Vertebral anomalies and variable endocrine and T-cell dysfunction, 618223 (3)
TBX21 Asthma and nasal polyps, 208550 (3)
{Asthma, aspirin-induced, susceptibility to}, 208550 (3)
TCAP Cardiomyopathy, hypertrophic, 25, 607487 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 7, 601954 (3)
TEX14 ?Spermatogenic failure 23, 617707 (3)
TMC8 Epidermodysplasia verruciformis 2, 618231 (3)
TNFRSF13B Immunodeficiency, common variable, 2, 240500 (3)
Immunoglobulin A deficiency 2, 609529 (3)
TP53 {Glioma susceptibility 1}, 137800 (3)
Bone marrow failure syndrome 5, 618165 (3)
Breast cancer, somatic, 114480 (3)
Hepatocellular carcinoma, somatic, 114550 (3)
{Osteosarcoma}, 259500 (3)
Li-Fraumeni syndrome, 151623 (3)
Nasopharyngeal carcinoma, somatic, 607107 (3)
Pancreatic cancer, somatic 260350 (3)
{Adrenocortical carcinoma, pediatric}, 202300 (3)
{Basal cell carcinoma 7}, 614740 (3)
{Choroid plexus papilloma}, 260500 (3)
{Colorectal cancer}, 114500 (3)
TRPV3 Olmsted syndrome, 614594 (3)
?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400 (3)
TSEN54 Pontocerebellar hypoplasia type 2A, 277470 (3)
Pontocerebellar hypoplasia type 4, 225753 (3)
?Pontocerebellar hypoplasia type 5, 610204 (3)
TTC19 Mitochondrial complex III deficiency, nuclear type 2, 615157 (3)
UBTF Neurodegeneration, childhood-onset, with brain atrophy, 617672 (3)
UNC13D Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)
UNC45B ?Cataract 43, 616279 (3)
VPS53 Pontocerebellar hypoplasia, type 2E, 615851 (3)
WDR45B Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 (3)
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)
Hydrocephalus, congenital, 3, with brain anomalies, 617967 (3)
WNK4 Pseudohypoaldosteronism, type IIB, 614491 (3)
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, ACTG1, AIPL1, ALOXE3, AXIN2, B9D1, BRCA1, BRIP1, CACNA1G, CANT1, CARD14, CBX2, CCDC137, CCDC40, CD79B, CNTNAP1, COASY, COG1, COL1A1, COX10, CRYBA1, CTC1, CTNS, DGKE, DLX3, DNAI2, DPH1, EFTUD2, EIF4A3, ELAC2, ENO3, EPX, FOXN1, FSCN2, G6PC3, GAA, GFAP, GOSR2, HOXB1, ITGA2B, ITGB4, JUP, KANSL1, KLHL10, KRT10, KRT12, KRT13, KRT14, KRT16, KRT25, KRT9, MYH3, MYH8, MYO15A, NAGLU, NAGS, NEK8, NF1, NLRP1, PGAP3, PIGW, PIK3R5, PITPNM3, PNPO, POLG2, PYCR1, RAI1, RHBDF2, RNF213, SCN4A, SEPT9, SERPINF1, SGSH, SLC25A19, SLC46A1, SLC4A1, SLC52A1, SLFN14, STAT5B, TCAP, TMC8, TNFRSF13B, TP53, TRPV3, TSEN54, TTC19, UNC13D, UNC45B, VPS53, WDR81, WNK4, ZNF750,
ABCA5 Hypertrichosis terminalis, generalized, with or without gingival hyperplasia
ACE Renal tubular dysgenesis
ACE serum levels
ACOX1 Peroxisomal acyl-CoA oxidase deficiency
ACTG1 Deafness, autosomal dominant 20
Baraitser-Winter syndrome 2
AIPL1 Leber congenital amaurosis 4
Retinitis pigmentosa, juvenile, AIPL1-related
Cone-rod dystrophy, AIPL1-related
ALOXE3 Ichthyosiform erythroderma, congenital, nonbullous, 1
AXIN2 Oligodontia-colorectal cancer syndrome
B9D1 Meckel syndrome 9
BRCA1 Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
BRIP1 Breast cancer
Fanconi anemia, complementation group J
CACNA1G Spinocerebellar ataxia 42
CANT1 Desbuquois dysplasia 1
CARD14 Psoriasis 2
CBX2 46,XY sex reversal 5
CCDC137 Schizophrenia
CCDC40 Ciliary dyskinesia, primary, 15
CD79B Agammaglobulinemia 6
CNTNAP1 Lethal congenital contracture syndrome 7
COASY Neurodegeneration with brain iron accumulation 6
COG1 Congenital disorder of glycosylation, type IIg
COL1A1 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type VII, autosomal dominant
COX10 Mitochondrial complex IV deficiency
Leigh syndrome
CRYBA1 Cataract 10, multiple types
CTC1 Cerebroretinal microangiopathy with calcifications and cysts
CTNS Cystinosis
DGKE Nephrotic syndrome, type 7
DLX3 Trichodontoosseous syndrome
Amelogenesis imperfecta, type IV
DNAI2 Ciliary dyskinesia, primary, 9
DPH1 Developmental delay with short stature, dysmorphic features, and sparse hair
EFTUD2 Mandibulofacial dysostosis, Guion-Almeida type
Esophageal atresia, syndromic
EIF4A3 Richieri-Costa-Pereira Syndrome
ELAC2 Combined oxidative phosphorylation deficiency 17
ENO3 Glycogen storage disease XIII
EPX Eosinophil peroxidase deficiency
FOXN1 T-cell immunodeficiency, congenital alopecia, and nail dystrophy
FSCN2 Retinitis pigmentosa 30
G6PC3 Neutropenia, severe congenital, 4, autosomal recessive
Dursun syndrome
GAA Glycogen storage disease II
GFAP Alexander disease
GOSR2 Epilepsy, progessive myoclonic 6
HOXB1 Facial paresis, hereditary congenital, 3
ITGA2B Glanzmann thrombasthenia
ITGB4 Epidermolysis bullosa, junctional, with pyloric atresia
Epidermolysis bullosa, junctional, non-Herlitz type
Epidermolysis bullosa simplex, Weber-Cockayne type
JUP Arrhythmogenic right ventricular dysplasia, familial, 12
Naxos disease
KANSL1 Koolen-de Vries syndrom
KLHL10 Spermatogenic failure 11
KRT10 Erythroderma, ichthyosiform, congenital reticular
Aaru disease
Ichthyosis, cyclic, with epidermolytic hyperkeratosis
Epidermolytic hyperkeratosis
Ichthyosis with confetti
KRT12 Meesmann corneal dystrophy
KRT13 White sponge nevus 2
KRT14 Epidermolysis bullosa simplex, autosomal recessive
Naegeli-Franceschetti-Jadassohn syndrome
Dermatopathia pigmentosa reticularis
Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex, Weber-Cockayne type
Epidermolysis bullosa simplex, Dowling-Meara type
KRT16 Palmoplantar keratoderma, nonepidermolytic, focal
Pachyonychia congenita 1
KRT25 Woolly hair, autosomal recessive 3
KRT9 Palmoplantar keratoderma, epidermolytic
Knuckle pads
MYH3 Arthrogryposis, distal, type 2A
Arthyrgryposis, distal, type 2B
Arthrogryposis, distal, type 8
MYH8 Carney complex variant
Arthrogryposis, distal, type 7
Trismus-pseudocamptodactyly syndrome
MYO15A Deafness, autosomal recessive 3
NAGLU Mucopolysaccharidosis type IIIB (Sanfilippo syndrome B)
NAGS N-acetylglutamate synthase deficiency
NEK8 Nephronophthisis 9
NF1 Neurofibromatosis type 1, Neurofibromatosis-Noonan syndrome
Watson syndrome
NLRP1 Corneal intraepithelial dyskeratosis and ectodermal dysplasia
PGAP3 Hyperphosphatasia with mental retardation syndrome 4
PIGW Hyperphosphatasia with mental retardation syndrome 5
PIK3R5 Ataxia-oculomotor apraxia 3
PITPNM3 Cone-rod dystrophy 5
PNPO Individuals may manifest with severe seizures starting in the immediate neonatal period (or even before birth), and medical treatment (with pyridoxine) can be effective as an antiepileptic agent
POLG2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
PYCR1 Cutis laxa, autosomal recessive, type IIB
Cutis laxa, autosomal recessive type IIIB
RAI1 Smith-Magenis syndrome
RHBDF2 Tylosis with esophageal cancer
RNF213 Moyamoya disease 2
SCN4A Paramyotonia congenita
Hyperkalemic periodic paralysis, type 2
Hypokalemic periodic paralysis, type 2
Normokalemic potassium-sensitive periodic paralysis
Malignant hyperthermia, susceptibility to
Myasthenic syndrome, congenital, 16
Myotonia, potassium-aggravated
SEPT9 Amyotrophy, hereditary neuralgic
SERPINF1 Osteogenesis imperfecta, type VI
SGSH Mucopolysaccharidosis type IIIA (Sanfilippo syndrome A)
SLC25A19 Thiamine metabolism dysfunction syndrome 4
Microcephaly, Amish type
SLC46A1 Folate malabsorption, hereditary
SLC4A1 Spherocytosis, type 4
Ovalcytosis, Southeast Asian
Cryohydrocytosis
Renal tubular acidosis, distal, with hemolytic anemia
Renal tubular acidosis, distal, autosomal dominant
Renal tubular acidosis, distal, autosomal recessive
Blood group, Wright
Blood group, Waldner
Blood group, Diego
Blood group, Froese
Blood group, Swann
SLC52A1 Maternal riboflavin deficiency
SLFN14 Bleeding disorder, platelet-type, 20
STAT5B Growth hormone insensitivity with immunodeficiency
TCAP Cardiomyopathy, dilated, 1N
Cardiomyopathy, familial hypertrophic 25
Muscular dystrophy, limb-girdle, type 2G
TMC8 Epidermodysplasia verruciformis
TNFRSF13B Immunoglobulin A deficiency 2
Common variable immunodeficiency 2
TP53 Li-Fraumeni syndrome
Choroid plexus papilloma
Ependymoma, intracranial
Osteogenic sarcoma
Breast cancer, familial
Hepatoblastoma
Non-Hodgkin lymphoma
Adrenocortical carcinoma
Colorectal cancer
TRPV3 Olmsted syndrome
Palmoplantar keratoderma, nonepidermolytic focal 2
TSEN54 Pontocerebellar hypoplasia, type 2A
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 5
TTC19 Mitochondrial complex III deficiency, nuclear type 2
UNC13D Hemophagocytic lymphohistiocytosis, familial 3
UNC45B Cataract 43
VPS53 Pontocerebellar hypoplasia, type 2E
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
WNK4 Pseudohypoaldosteronism, type IIB
ZNF750 Seborrhea-like dermatitis with psoriasiform elements

Genes at HGMD

Summary

Number of Variants: 2333
Number of Genes: 519

Export to: CSV

AATK

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 046_tsvc_variants 17 rs36000545
dbSNP Clinvar
79093822 338.8 A G PASS 1/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.35982 0.35980 0.27890 0.43 0.00 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 046_tsvc_variants 17 rs4968849
dbSNP Clinvar
67178316 26.7 A G PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.71126 0.71130 0.24304 1.00 0.00 None None None None None None ABCA10|0.002179826|90.49%
View 046_tsvc_variants 17 rs11077414
dbSNP Clinvar
67212031 68.52 A G PASS 0/1 44 SYNONYMOUS_CODING LOW None 0.06470 0.47140 0.42465 None None None None None None ABCA10|0.002179826|90.49%
View 046_tsvc_variants 17 rs12941264
dbSNP Clinvar
67215712 193.17 C T PASS 0/1 71 SYNONYMOUS_CODING LOW None 0.59844 0.59840 0.32759 None None None None None None ABCA10|0.002179826|90.49%
View 046_tsvc_variants 17 rs9909216
dbSNP Clinvar
67212423 122.48 G A PASS 0/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.58067 0.58070 0.34515 0.03 0.00 None None None None None None ABCA10|0.002179826|90.49%

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 046_tsvc_variants 17 rs536009
dbSNP Clinvar
67273882 210.68 C A PASS 1/1 23 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 046_tsvc_variants 17 rs12449649
dbSNP Clinvar
67260926 368.84 A G PASS 1/1 42 SYNONYMOUS_CODING LOW None 0.37939 0.37940 0.39114 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 046_tsvc_variants 17 rs2302134
dbSNP Clinvar
67081830 170.11 T C PASS 0/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.45986 0.45990 0.48539 0.16 0.45 None None None None None None ABCA6|0.006278632|84.32%
View 046_tsvc_variants 17 rs7212506
dbSNP Clinvar
67101718 1315.01 C T PASS 1/1 140 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%
View 046_tsvc_variants 17 rs4968839
dbSNP Clinvar
67125840 448.85 C T PASS 0/1 195 NON_SYNONYMOUS_CODING MODERATE None 0.55511 0.55510 0.40099 0.35 0.00 None None None None None None ABCA6|0.006278632|84.32%

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 046_tsvc_variants 17 rs1481
dbSNP Clinvar
66872802 3844.64 G C PASS 1/1 434 SYNONYMOUS_CODING LOW None 0.81350 0.81350 0.26980 None None None None None None ABCA8|0.008754907|81.9%
View 046_tsvc_variants 17 rs34001235
dbSNP Clinvar
66887675 74.0 C T PASS 0/1 19 SYNONYMOUS_CODING LOW None 0.01438 0.01438 0.01284 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 046_tsvc_variants 17 rs1860447
dbSNP Clinvar
67031457 518.6 C T PASS 1/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.85783 0.85780 0.14363 0.90 0.00 None None None None None None ABCA9|0.017284198|75.69%
View 046_tsvc_variants 17 rs2302294
dbSNP Clinvar
66985992 77.37 T G PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.41334 0.41330 0.48347 0.02 0.99 None None None None None None ABCA9|0.017284198|75.69%
View 046_tsvc_variants 17 rs2302291
dbSNP Clinvar
67028260 199.35 T C PASS 0/1 96 SYNONYMOUS_CODING LOW None 0.40695 0.40690 0.47932 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 046_tsvc_variants 17 rs11568591
dbSNP Clinvar
48761053 99.75 G A PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.01977 0.01977 0.04744 0.00 1.00 None None None None None None ABCC3|0.044769991|64.26%
View 046_tsvc_variants 17 rs1051640
dbSNP Clinvar
48768486 320.43 A G PASS 0/1 187 SYNONYMOUS_CODING LOW None 0.10403 0.10400 0.14639 None None None None None None ABCC3|0.044769991|64.26%
View 046_tsvc_variants 17 rs2277624
dbSNP Clinvar
48761105 158.33 C T PASS 0/1 62 SYNONYMOUS_CODING LOW None 0.28694 0.28690 0.26465 None None None None None None ABCC3|0.044769991|64.26%

ABHD15

Omim - GeneCards - NCBI
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View 046_tsvc_variants 17 rs721479
dbSNP Clinvar
27889963 455.69 C G PASS 0/1 222 SYNONYMOUS_CODING LOW None 0.22284 0.22280 0.22328 None None None None None None ABHD15|0.102676834|50.66%
View 046_tsvc_variants 17 rs542939
dbSNP Clinvar
27889986 2300.69 T C PASS 1/1 239 NON_SYNONYMOUS_CODING MODERATE None 0.76797 0.76800 0.30571 1.00 0.03 None None None None None None ABHD15|0.102676834|50.66%

ABI3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 17 rs616338
dbSNP Clinvar
47297297 557.95 T C PASS 1/1 73 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
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View 046_tsvc_variants 17 rs2262150
dbSNP Clinvar
970413 233.42 C T PASS 0/1 104 SYNONYMOUS_CODING LOW None 0.89697 0.89700 0.13425 None None None None None None ABR|0.634601907|10.64%

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 046_tsvc_variants 17 rs1470452
dbSNP Clinvar
35478362 1730.38 T C PASS 1/1 183 SYNONYMOUS_CODING LOW None 1.00000 1.00000 0.00108 None None None None None None ACACA|0.94269074|2.39%
View 046_tsvc_variants 17 rs58654829
dbSNP Clinvar
35696804 292.41 G A PASS 1/1 30 SYNONYMOUS_CODING LOW None 0.58546 0.58550 0.34776 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 046_tsvc_variants 17 rs4796407
dbSNP Clinvar
7245371 176.61 A G PASS 0/1 88 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 17 rs4343
dbSNP Clinvar
61566031 441.15 G A PASS 0/1 224 SYNONYMOUS_CODING LOW None 0.64317 0.64320 0.43987 None None None None None None ACE|0.894558224|3.56%
View 046_tsvc_variants 17 rs4331
dbSNP Clinvar
61564052 278.39 A G PASS 0/1 127 SYNONYMOUS_CODING LOW None 0.52955 0.52960 0.44326 None None None None None None ACE|0.894558224|3.56%
View 046_tsvc_variants 17 rs4362
dbSNP Clinvar
61573761 307.29 T C PASS 0/1 114 SYNONYMOUS_CODING LOW None 0.58746 0.58750 0.49470 None None None None None None ACE|0.894558224|3.56%

ACLY

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 046_tsvc_variants 17 rs8065502
dbSNP Clinvar
40048613 1807.86 A G PASS 1/1 191 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.90435 0.90440 0.12479 None None None None None None ACLY|0.44685425|18.3%

ACOX1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 17 rs3744032
dbSNP Clinvar
73969835 48.24 C T PASS 0/1 59 None None None 0.06490 0.06490 0.04475 0.32 0.01 None None None None None None ACOX1|0.181440529|38.86%

ACSF2

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 046_tsvc_variants 17 rs9674937
dbSNP Clinvar
48539035 118.62 T C PASS 0/1 50 SYNONYMOUS_CODING LOW None 0.34405 0.34400 0.37667 None None None None None None ACSF2|0.036236332|67.04%

ACTG1

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 046_tsvc_variants 17 rs1135989
dbSNP Clinvar
79478007 251.86 G A PASS 0/1 140 SYNONYMOUS_CODING LOW None 0.18530 0.18530 0.31639 None None None None None None ACTG1|0.983116739|1.38%
View 046_tsvc_variants 17 rs1139405
dbSNP Clinvar
79478019 251.85 G A PASS 0/1 140 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 17 rs8075210
dbSNP Clinvar
42854610 1721.65 T C PASS 1/1 184 SYNONYMOUS_CODING LOW None 0.64537 0.64540 0.41973 None None None None None None ADAM11|0.131633893|45.66%
View 046_tsvc_variants 17 rs2070605
dbSNP Clinvar
42855554 787.7 T C PASS 1/1 84 SYNONYMOUS_CODING LOW None 0.64537 0.64540 0.41996 None None None None None None ADAM11|0.131633893|45.66%
View 046_tsvc_variants 17 rs35936481
dbSNP Clinvar
42851729 2884.58 C T PASS 1/1 308 SYNONYMOUS_CODING LOW None 0.64557 0.64560 0.40983 None None None None None None ADAM11|0.131633893|45.66%
View 046_tsvc_variants 17 rs1558083
dbSNP Clinvar
42852604 735.87 G T PASS 1/1 77 SYNONYMOUS_CODING LOW None 0.64557 0.64560 0.41950 None None None None None None ADAM11|0.131633893|45.66%
View 046_tsvc_variants 17 rs1558084
dbSNP Clinvar
42852610 722.95 T C PASS 1/1 76 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 17 rs34940296
dbSNP Clinvar
10608518 352.94 T G PASS 0/1 194 NON_SYNONYMOUS_CODING MODERATE None 0.01038 0.01038 0.01269 0.55 0.00 None None None None None None ADPRM|0.084888375|54.22%,TMEM220|0.046283396|63.81%
View 046_tsvc_variants 17 rs406446
dbSNP Clinvar
10614442 279.76 A G PASS 0/1 90 NON_SYNONYMOUS_CODING MODERATE None 0.48722 0.48720 0.48770 0.09 0.04 None None None None None None ADPRM|0.084888375|54.22%,TMEM220|0.046283396|63.81%

AIPL1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 17 rs8075035
dbSNP Clinvar
6331803 565.62 T C PASS 0/1 322 SYNONYMOUS_CODING LOW None 0.57588 0.57590 0.39474 None None None None None None AIPL1|0.064852727|58.69%
View 046_tsvc_variants 17 rs2292546
dbSNP Clinvar
6330068 61.92 T C PASS 0/1 51 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 046_tsvc_variants 17 rs2230772
dbSNP Clinvar
55183203 276.94 T C PASS 0/1 140 SYNONYMOUS_CODING LOW None 0.47824 0.47820 0.39136 None None None None None None AKAP1|0.039700237|65.85%
View 046_tsvc_variants 17 rs1050515
dbSNP Clinvar
55183716 489.99 T C PASS 0/1 171 SYNONYMOUS_CODING LOW None 0.59066 0.59070 0.45917 None None None None None None AKAP1|0.039700237|65.85%

ALDH3A1

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 046_tsvc_variants 17 rs2072330
dbSNP Clinvar
19644472 453.04 A T PASS 0/1 171 SYNONYMOUS_CODING LOW None 0.29074 0.29070 0.30186 None None None None None None ALDH3A1|0.032163878|68.52%
View 046_tsvc_variants 17 rs887241
dbSNP Clinvar
19645938 72.53 A C PASS 0/1 74 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%

ALOX12

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 046_tsvc_variants 17 rs1042356
dbSNP Clinvar
6902743 148.69 G A PASS 0/1 102 SYNONYMOUS_CODING LOW None 0.60184 0.60180 0.39466 None None None None None None ALOX12|0.072773622|56.83%
View 046_tsvc_variants 17 rs1042357
dbSNP Clinvar
6905061 476.34 T G PASS 0/1 259 SYNONYMOUS_CODING LOW None 0.57228 0.57230 0.42734 None None None None None None ALOX12|0.072773622|56.83%
View 046_tsvc_variants 17 rs434473
dbSNP Clinvar
6904934 328.64 A G PASS 0/1 164 NON_SYNONYMOUS_CODING MODERATE None 0.34125 0.34130 0.34507 0.81 0.00 None None None None None None ALOX12|0.072773622|56.83%
View 046_tsvc_variants 17 rs1126667
dbSNP Clinvar
6902760 137.83 A G PASS 0/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.60403 0.60400 0.39190 0.40 0.01 None None None None None None ALOX12|0.072773622|56.83%
View 046_tsvc_variants 17 rs312467
dbSNP Clinvar
6899559 459.69 C G PASS 1/1 50 SYNONYMOUS_CODING LOW None 0.00140 0.94930 None None None None None None ALOX12|0.072773622|56.83%

ALOX15

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 046_tsvc_variants 17 rs34210653
dbSNP Clinvar
4535314 264.73 G A PASS 0/1 103 NON_SYNONYMOUS_CODING MODERATE None 0.01258 0.01258 0.01238 0.00 1.00 None None None None None None ALOX15|0.017879585|75.36%

ALOXE3

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 046_tsvc_variants 17 rs112227180
dbSNP Clinvar
8021407 178.57 G C PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.01058 0.01058 0.72 0.00 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 046_tsvc_variants 17 rs7105
dbSNP Clinvar
66253095 422.38 T A PASS 0/1 114 SYNONYMOUS_CODING LOW None 0.37061 0.37060 0.31332 None None None None None None AMZ2|0.012004494|79.24%
View 046_tsvc_variants 17 rs3213690
dbSNP Clinvar
66246416 278.3 A G PASS 0/1 106 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 17 rs10852985
dbSNP Clinvar
54534634 75.09 G A PASS 0/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.75160 0.75160 0.30403 0.16 0.08 None None None None None None ANKFN1|0.698610051|8.53%
View 046_tsvc_variants 17 rs957724
dbSNP Clinvar
54450038 174.02 C A PASS 0/1 91 SYNONYMOUS_CODING LOW None 0.61562 0.61560 0.46432 None None None None None None ANKFN1|0.698610051|8.53%
View 046_tsvc_variants 17 rs8069322
dbSNP Clinvar
54450134 141.04 G A PASS 0/1 93 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 17 rs2020118
dbSNP Clinvar
4088291 1119.29 C T PASS 1/1 119 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%

AP2B1

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 046_tsvc_variants 17 rs1049379
dbSNP Clinvar
33998802 177.03 G C PASS 0/1 112 SYNONYMOUS_CODING LOW None 0.47105 0.47100 0.49354 None None None None None None AP2B1|0.759088782|6.87%

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 046_tsvc_variants 17 rs4581
dbSNP Clinvar
64210757 122.7 C A PASS 0/1 36 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 17 rs7405920
dbSNP Clinvar
36635721 543.46 C T PASS 1/1 57 SYNONYMOUS_CODING LOW None 0.95687 0.95690 0.05105 None None None None None None ARHGAP23|0.124657713|46.71%
View 046_tsvc_variants 17 rs9891156
dbSNP Clinvar
36646386 1451.43 A G PASS 1/1 154 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 17 rs2959953
dbSNP Clinvar
43507008 2106.02 G C PASS 1/1 228 NON_SYNONYMOUS_CODING MODERATE None 0.61961 0.61960 0.27764 1.00 0.00 None None None None None None ARHGAP27|0.041158202|65.39%
View 046_tsvc_variants 17 rs117139057
dbSNP Clinvar
43472825 225.38 G C PASS 0/1 90 NON_SYNONYMOUS_CODING MODERATE None 0.07348 0.07348 0.05734 0.00 0.98 None None None None None None ARHGAP27|0.041158202|65.39%

ARHGEF15

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 17 rs871841
dbSNP Clinvar
8216468 321.85 T C PASS 0/1 122 NON_SYNONYMOUS_CODING MODERATE None 0.62101 0.62100 0.43657 1.00 0.00 None None None None None None ARHGEF15|0.03636471|66.99%
View 046_tsvc_variants 17 rs3744651
dbSNP Clinvar
8215534 118.36 C T PASS 0/1 81 SYNONYMOUS_CODING LOW None 0.41693 0.41690 0.34769 None None None None None None ARHGEF15|0.03636471|66.99%
View 046_tsvc_variants 17 rs3744647
dbSNP Clinvar
8224276 292.82 T C PASS 0/1 140 NON_SYNONYMOUS_CODING MODERATE None 0.57788 0.57790 0.35699 1.00 0.00 None None None None None None ARHGEF15|0.03636471|66.99%

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 046_tsvc_variants 17 rs544198
dbSNP Clinvar
37319029 252.46 T G PASS 0/1 155 NON_SYNONYMOUS_CODING MODERATE None 0.23522 0.23520 0.22887 0.01 0.21 None None None None None None ARL5C|0.012423573|78.94%
View 046_tsvc_variants 17 rs657723
dbSNP Clinvar
37319103 254.27 T C PASS 0/1 147 NON_SYNONYMOUS_CODING MODERATE None 0.33307 0.33310 0.32063 0.02 0.02 None None None None None None ARL5C|0.012423573|78.94%

ARRB2

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 046_tsvc_variants 17 rs1045280
dbSNP Clinvar
4622638 2108.31 C T PASS 1/1 219 SYNONYMOUS_CODING LOW None 0.66953 0.66950 0.40051 None None None None None None ARRB2|0.726219786|7.8%

ARSG

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 17 rs1558878
dbSNP Clinvar
66364804 380.51 T C PASS 0/1 154 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 046_tsvc_variants 17 rs1558876
dbSNP Clinvar
66364691 363.92 C G PASS 0/1 163 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.27596 0.27600 0.36545 0.70 0.02 None None None None None None ARSG|0.038924858|66.13%
View 046_tsvc_variants 17 rs1558877
dbSNP Clinvar
66364749 404.59 T C PASS 0/1 167 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 17 rs7212573
dbSNP Clinvar
42254281 55.51 A G PASS 0/1 22 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%
View 046_tsvc_variants 17 rs7212854
dbSNP Clinvar
42254417 16.92 A G PASS 0/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.45427 0.45430 0.15988 0.01 0.08 None None None None None None ASB16|0.091388506|52.96%
View 046_tsvc_variants 17 rs7218599
dbSNP Clinvar
42248346 760.58 A T PASS 1/1 81 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 046_tsvc_variants 17 rs7217858
dbSNP Clinvar
42254527 254.72 T G PASS 0/1 169 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%

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 046_tsvc_variants 17 rs61731746
dbSNP Clinvar
7011225 268.89 T G PASS 0/1 143 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.11661 0.11660 0.11241 None None None None None None ASGR2|0.003649861|87.52%

ASIC2

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 046_tsvc_variants 17 rs2228989
dbSNP Clinvar
32483270 253.09 C G PASS 0/1 78 None None None 0.23223 0.23220 0.14789 None None None None None None ASIC2|0.867321872|4.31%
View 046_tsvc_variants 17 rs2228990
dbSNP Clinvar
32483237 271.6 A G PASS 0/1 84 None None None 0.27217 0.27220 0.18811 None None None None None None ASIC2|0.867321872|4.31%
View 046_tsvc_variants 17 rs9893935
dbSNP Clinvar
31618732 756.58 A G PASS 0/1 357 SYNONYMOUS_CODING LOW None 0.55990 0.55990 0.48428 None None None None None None ASIC2|0.867321872|4.31%

ASPSCR1

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 17 rs13087
dbSNP Clinvar
79974731 177.69 T C PASS 0/1 62 SYNONYMOUS_CODING LOW None 0.58027 0.58030 0.35362 None None None None None None ASPSCR1|0.049924579|62.68%
View 046_tsvc_variants 17 rs8074498
dbSNP Clinvar
79954544 83.46 T A PASS 0/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.38279 0.38280 0.49692 0.00 1.00 None None None None None None ASPSCR1|0.049924579|62.68%

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 046_tsvc_variants 17 rs11080134
dbSNP Clinvar
29161503 426.06 A G PASS 1/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.15156 0.15160 0.26258 0.05 0.44 None None None None None None ATAD5|0.264597723|30.33%

ATP1B2

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 046_tsvc_variants 17 rs1642763
dbSNP Clinvar
7557419 1864.12 A G PASS 1/1 203 SYNONYMOUS_CODING LOW None 0.78994 0.78990 0.19945 None None None None None None ATP1B2|0.217295492|34.69%

ATP2A3

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 046_tsvc_variants 17 rs17846889
dbSNP Clinvar
3845927 237.45 A G PASS 0/1 117 SYNONYMOUS_CODING LOW None 0.38478 0.38480 0.49716 None None None None None None ATP2A3|0.0615045|59.44%
View 046_tsvc_variants 17 rs1800911
dbSNP Clinvar
3848013 63.71 A C PASS 0/1 12 SYNONYMOUS_CODING LOW None 0.33626 0.33630 0.43716 None None None None None None ATP2A3|0.0615045|59.44%
View 046_tsvc_variants 17 rs1800912
dbSNP Clinvar
3844787 334.69 C G PASS 0/1 195 SYNONYMOUS_CODING LOW None 0.14796 0.14800 0.22282 None None None None None None ATP2A3|0.0615045|59.44%
View 046_tsvc_variants 17 rs887387
dbSNP Clinvar
3828702 594.68 T C PASS 0/1 237 None None None 0.28634 0.28630 0.32639 None None None None None None ATP2A3|0.0615045|59.44%
View 046_tsvc_variants 17 rs758641
dbSNP Clinvar
3846802 135.83 A G PASS 0/1 109 SYNONYMOUS_CODING LOW None 0.33327 0.33330 0.43911 None None None None None None ATP2A3|0.0615045|59.44%

AURKB

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 046_tsvc_variants 17 rs1059476
dbSNP Clinvar
8108331 1220.15 A G PASS 1/1 128 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 046_tsvc_variants 17 rs2241909
dbSNP Clinvar
8108339 226.64 G A PASS 0/1 122 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 17 rs2240308
dbSNP Clinvar
63554591 196.25 G A PASS 0/1 87 NON_SYNONYMOUS_CODING MODERATE None 0.33766 0.33770 0.39482 0.31 0.00 None None None None None None AXIN2|0.837375797|4.92%
View 046_tsvc_variants 17 rs9915936
dbSNP Clinvar
63533789 2250.29 T C PASS 1/1 233 SYNONYMOUS_CODING LOW None 0.90974 0.90970 0.08912 None None None None None None AXIN2|0.837375797|4.92%
View 046_tsvc_variants 17 rs1133683
dbSNP Clinvar
63533768 540.93 G A PASS 0/1 229 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
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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 046_tsvc_variants 17 rs2466773
dbSNP Clinvar
79174221 1536.06 T C PASS 1/1 161 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 046_tsvc_variants 17 rs2725419
dbSNP Clinvar
79173224 1807.79 T C PASS 1/1 207 SYNONYMOUS_CODING LOW None 0.90935 0.90930 0.08224 None None None None None None CEP131|0.010879041|80.18%
View 046_tsvc_variants 17 rs2292182
dbSNP Clinvar
79163649 295.28 G A PASS 0/1 178 None None None 0.20228 0.20230 0.20091 None None None None None None CEP131|0.010879041|80.18%
View 046_tsvc_variants 17 rs1542961
dbSNP Clinvar
79170576 323.78 C T PASS 0/1 170 SYNONYMOUS_CODING LOW None 0.22125 0.22120 0.36118 None None None None None None CEP131|0.010879041|80.18%