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+ Genes 561

Genes:
AATF, AATK, ABCA10, ABCA5, ABCA6, ABCA8, ABCA9, ABCC3, ABHD15, ABI3, ABR, AC129492.6, ACACA, ACAP1, ACBD4, ACE, ACLY, ACOX1, ACSF2, ACTG1, ADAM11, AIPL1, AKAP1, AKAP10, ALOX12, ALOX15B, ALOXE3, AMZ2, ANKFN1, ANKFY1, ANKRD40, AOC3, AP2B1, ARHGAP23, ARHGAP27, ARHGEF15, ARL16, ARL5C, ARRB2, ARSG, ASB16, ASGR2, ASIC2, ASPSCR1, ATAD5, ATP1B2, ATP2A3, ATP6V0A1, ATPAF2, AURKB, AXIN2, AZI1, B3GNTL1, B4GALNT2, B9D1, BAIAP2, BCAS3, BCL6B, BIRC5, BPTF, BRCA1, BRIP1, BTBD17, BZRAP1, C17orf104, C17orf105, C17orf47, C17orf49, C17orf50, C17orf53, C17orf58, C17orf59, C17orf66, C17orf70, C17orf72, C17orf74, C17orf77, C17orf78, C17orf80, C17orf82, C17orf99, CA10, CACNA1G, CACNG4, CAMKK1, CAMTA2, CANT1, CARD14, CBX2, CBX4, CBX8, CCDC137, CCDC144A, CCDC144NL, CCDC40, CCDC57, CCL15, CCL2, CCL23, CCR10, CCT6B, CD300A, CD300C, CD300E, CD300LB, CD300LF, CD300LG, CD79B, CDK5RAP3, CDR2L, CDRT1, CDRT15, CDRT4, CEP112, CHD3, CHMP6, CHRNE, CLDN7, CLEC10A, CLUH, CNP, CNTD1, CNTNAP1, COG1, COIL, COL1A1, COPRS, COPS3, COX10, CRK, CRLF3, CSHL1, CTC1, CTDNEP1, CTNS, CUEDC1, CXCL16, CYB5D1, DCXR, DDX5, DGKE, DHX33, DLG4, DLX3, DNAH17, DNAH17-AS1, DNAH2, DNAH9, DNAI2, DPH1, DRG2, DVL2, EFCAB13, EFCAB5, EFTUD2, EIF4A1, EIF5A, ELAC2, ELP5, EME1, ENDOV, ENO3, ENTHD2, EPN2, EPN3, ERAL1, ERN1, EVI2A, EVPL, EVPLL, FAM104A, FAM20A, FAM57A, FAM83G, FASN, FBF1, FBXO39, FBXO47, FBXW10, FKBP10, FLCN, FLII, FMNL1, FN3K, FN3KRP, FNDC8, FOXK2, FOXN1, FTSJ3, FXR2, GAA, GAS2L2, GAS7, GAST, GEMIN4, GGNBP2, GGT6, GID4, GIP, GIT1, GLP2R, GPATCH8, GPR142, GPR179, GPS2, GRB7, GRIN2C, GSDMA, HAP1, HELZ, HEXIM1, HGS, HID1, HIGD1B, HN1, HOXB1, HOXB3, HOXB5, HOXB7, HSF5, ICT1, IFI35, IGFBP4, INTS2, ITGA2B, ITGAE, ITGB4, JUP, KANSL1, KCNH4, KCNH6, KCNJ12, KDM6B, KIAA0100, KIAA0195, KIAA0753, KIF18B, KIF19, KIF1C, KIF2B, KLHL10, KLHL11, KPNA2, KPNB1, KRT10, KRT12, KRT13, KRT14, KRT15, KRT19, KRT23, KRT24, KRT25, KRT27, KRT28, KRT32, KRT33B, KRT34, KRT35, KRT36, KRT37, KRT39, KRT40, KRTAP1-1, KRTAP1-3, KRTAP2-1, KRTAP3-1, KRTAP3-2, KRTAP3-3, KRTAP4-1, KRTAP4-11, KRTAP4-5, KRTAP4-6, KRTAP4-7, KRTAP4-8, KRTAP9-1, KRTAP9-2, KRTAP9-3, KRTAP9-4, KRTAP9-8, KSR1, LASP1, LEPREL4, LGALS3BP, LGALS9, LLGL1, LLGL2, LRRC37A2, LRRC3C, LRRC45, LRRC48, LYZL6, MAP2K3, MAP2K6, MAPT, MARCH10, MED13, MED24, MED9, METRNL, METTL2A, MFSD6L, MGAT5B, MIEF2, MINK1, MLLT6, MLX, MMP28, MPP2, MPP3, MPRIP, MRC2, MRPL10, MRPS7, MTMR4, MYADML2, MYBBP1A, MYCBPAP, MYH1, MYH10, MYH13, MYH2, MYH3, MYH4, MYH8, MYO15A, MYO18A, MYO19, MYO1C, NAGLU, NAT9, NBR1, NEURL4, NF1, NGFR, NLE1, NLGN2, NLRP1, NMT1, NOL11, NOS2, NOTUM, NPLOC4, NPTX1, NSRP1, NT5C3B, NUP85, NUP88, ODF4, OR1A1, OR1A2, OR1D2, OR1D5, OR1E1, OR1E2, OR3A1, OSBPL7, OTOP2, OTOP3, PCGF2, PCTP, PDK2, PELP1, PEMT, PER1, PFAS, PFN1, PGAP3, PGS1, PIK3R5, PIP4K2B, PITPNA, PITPNM3, PLD2, PLXDC1, PNMT, PNPO, POLR2A, PPP1R1B, PRKCA, PRPSAP1, PRPSAP2, PSMB6, PSMC5, PSMD12, PSMD3, PTGES3L-AARSD1, PTRH2, PYCR1, QRICH2, RAB11FIP4, RAB34, RAB5C, RABEP1, RAC3, RAI1, RANGRF, RAP1GAP2, RASL10B, RDM1, RECQL5, RFNG, RHBDF2, RNF157, RNF213, RNF222, RNF43, RNFT1, RNMTL1, RP11-1055B8.7, RPA1, RPTOR, RSAD1, RTN4RL1, RUNDC1, RUNDC3A, SARM1, SAT2, SCARF1, SCIMP, SCN4A, SCRN2, SDK2, SEC14L1, SECTM1, SENP3, SEPT4, SERPINF1, SERPINF2, SGSH, SHPK, SIRT7, SKAP1, SLC13A2, SLC16A13, SLC16A3, SLC16A5, SLC16A6, SLC25A10, SLC25A39, SLC26A11, SLC2A4, SLC35G6, SLC38A10, SLC39A11, SLC46A1, SLC47A2, SLC4A1, SLC52A1, SLC5A10, SLC9A3R1, SLFN11, SLFN12, SLFN12L, SLFN13, SLFN14, SLFN5, SMCR8, SMG6, SMG8, SMTNL2, SMYD4, SOCS3, SPATA20, SPATA22, SPATA32, SPDYE4, SPECC1, SPHK1, SPNS3, SPPL2C, SRCIN1, SREBF1, SRP68, SRSF2, ST6GALNAC1, STX8, STXBP4, SUPT6H, SYNRG, TADA2A, TAF15, TAOK1, TAX1BP3, TBC1D16, TBC1D26, TBC1D28, TBCD, TBKBP1, TEKT1, TEKT3, TEN1, TEX14, TK1, TLCD2, TLK2, TM4SF5, TMC8, TMEM104, TMEM105, TMEM106A, TMEM220, TMEM235, TMEM256-PLSCR3, TMEM99, TNFRSF13B, TNFSF12, TNFSF12-TNFSF13, TNK1, TOB1, TRIM16, TRIM16L, TRIM25, TRIM47, TRIM65, TRPV1, TRPV3, TSEN54, TSPAN10, TTYH2, TUBD1, TUSC5, TVP23B, TVP23C, UBALD2, UBB, UBE2O, UBE2Z, UBTF, ULK2, UNC13D, UNK, USP22, USP32, USP36, USP6, UTP18, VAT1, VMO1, VPS25, VPS53, VTN, WDR16, WDR81, WFIKKN2, WIPI1, WNK4, WSCD1, XAF1, XYLT2, ZACN, ZBTB4, ZMYND15, ZNF286A, ZNF286B, ZNF594, ZNF624, ZNF652, ZNF750, ZNF830, ZZEF1,

+ Genes associated with diseases 110

Genes at Omim

ABCA5, ACACA, ACE, ACOX1, ACTG1, AIPL1, AKAP10, ALOXE3, ARSG, ASPSCR1, ATPAF2, AXIN2, B9D1, BPTF, BRCA1, BRIP1, CACNA1G, CANT1, CARD14, CBX2, CCDC40, CCL2, CD79B, CHD3, CHRNE, CNTNAP1, COG1, COL1A1, COX10, CTC1, CTNS, DCXR, DGKE, DLX3, DNAH9, DNAI2, DPH1, EFTUD2, ELAC2, ENO3, ERAL1, FAM20A, FKBP10, FLCN, FOXN1, GAA, GEMIN4, GPR179, HOXB1, ITGA2B, ITGB4, JUP, KANSL1, KIAA0753, KIF1C, KLHL10, KRT10, KRT12, KRT13, KRT14, KRT25, MAPT, MRPS7, MYH2, MYH3, MYH8, MYO15A, NAGLU, NF1, NLRP1, NUP85, PFN1, PGAP3, PIK3R5, PITPNM3, PNPO, PRKCA, PSMD12, PTRH2, PYCR1, QRICH2, RAI1, RHBDF2, RNF213, RNF43, SCN4A, SERPINF1, SGSH, SHPK, SLC46A1, SLC4A1, SLC52A1, SLC9A3R1, SLFN14, TAF15, TBCD, TEX14, TLK2, TMC8, TNFRSF13B, TRPV3, TSEN54, UBTF, UNC13D, VPS53, WDR81, WNK4, XYLT2, ZMYND15, ZNF750,
ABCA5 ?Hypertrichosis, congenital generalized, with gingival hyperplasia, 135400 (3)
ACACA Acetyl-CoA carboxylase deficiency, 613933 (1)
ACE {Microvascular complications of diabetes 3}, 612624 (3)
{Myocardial infarction, susceptibility to} (3)
{SARS, progression of} (3)
{Stroke, hemorrhagic}, 614519 (3)
Renal tubular dysgenesis, 267430 (3)
[Angiotensin I-converting enzyme, benign serum increase] (3)
ACOX1 Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)
ACTG1 Baraitser-Winter syndrome 2, 614583 (3)
Deafness, autosomal dominant 20/26, 604717 (3)
AIPL1 Cone-rod dystrophy, 604393 (3)
Leber congenital amaurosis 4, 604393 (3)
Retinitis pigmentosa, juvenile, 604393 (3)
AKAP10 {Cardiac conduction defect, susceptibility to}, 115080 (3)
ALOXE3 Ichthyosis, congenital, autosomal recessive 3, 606545 (3)
ARSG Usher syndrome, type IV, 618144 (3)
ASPSCR1 Alveolar soft-part sarcoma, 606243 (3)
ATPAF2 ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 (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)
BRCA1 Fanconi anemia, complementation group S, 617883 (3)
{Pancreatic cancer, susceptibility to, 4}, 614320 (3)
{Breast-ovarian cancer, familial, 1}, 604370 (3)
BRIP1 Fanconi anemia, complementation group J, 609054 (3)
{Breast cancer, early-onset, susceptibility to}, 114480 (3)
CACNA1G Spinocerebellar ataxia 42, 616795 (3)
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087 (3)
CANT1 Desbuquois dysplasia 1, 251450 (3)
Epiphyseal dysplasia, multiple, 7, 617719 (3)
CARD14 Pityriasis rubra pilaris, 173200 (3)
Psoriasis 2, 602723 (3)
CBX2 ?46XY sex reversal 5, 613080 (3)
CCDC40 Ciliary dyskinesia, primary, 15, 613808 (3)
CCL2 {HIV-1, resistance to}, 609423 (3)
{Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
{Spina bifida, susceptibility to}, 182940 (3)
{Coronary artery disease, modifier of} (3)
CD79B Agammaglobulinemia 6, 612692 (3)
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)
CNTNAP1 Hypomyelinating neuropathy, congenital, 3, 618186 (3)
Lethal congenital contracture syndrome 7, 616286 (3)
COG1 Congenital disorder of glycosylation, type IIg, 611209 (3)
COL1A1 Caffey disease, 114000 (3)
Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060 (3)
Osteogenesis imperfecta, type I, 166200 (3)
Osteogenesis imperfecta, type II, 166210 (3)
Osteogenesis imperfecta, type III, 259420 (3)
Osteogenesis imperfecta, type IV, 166220 (3)
{Bone mineral density variation QTL, osteoporosis}, 166710 (3)
COX10 Leigh syndrome due to mitochondrial COX4 deficiency, 256000 (3)
Mitochondrial complex IV deficiency, 220110 (3)
CTC1 Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3)
CTNS Cystinosis, atypical nephropathic, 219800 (3)
Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 (3)
Cystinosis, nephropathic, 219800 (3)
Cystinosis, ocular nonnephropathic, 219750 (3)
DCXR [Pentosuria], 260800 (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)
ERAL1 Perrault syndrome 6, 617565 (3)
FAM20A Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 (3)
FKBP10 Bruck syndrome 1, 259450 (3)
Osteogenesis imperfecta, type XI, 610968 (3)
FLCN Birt-Hogg-Dube syndrome, 135150 (3)
Colorectal cancer, somatic, 114500 (3)
Pneumothorax, primary spontaneous, 173600 (3)
Renal carcinoma, chromophobe, somatic, 144700 (3)
FOXN1 T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3)
GAA Glycogen storage disease II, 232300 (3)
GEMIN4 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 (3)
GPR179 Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3)
HOXB1 Facial paresis, hereditary congenital, 3, 614744 (3)
ITGA2B Glanzmann thrombasthenia, 273800 (3)
Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3)
Thrombocytopenia, neonatal alloimmune, BAK antigen related (3)
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)
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)
KRT25 Woolly hair, autosomal recessive 3, 616760 (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)
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)
NUP85 Nephrotic syndrome, type 17, 618176 (3)
PFN1 Amyotrophic lateral sclerosis 18, 614808 (3)
PGAP3 Hyperphosphatasia with mental retardation syndrome 4, 615716 (3)
PIK3R5 Ataxia-oculomotor apraxia 3, 615217 (3)
PITPNM3 Cone-rod dystrophy 5, 600977 (3)
PNPO Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3)
PRKCA Pituitary tumor, invasive (3)
PSMD12 Stankiewicz-Isidor syndrome, 617516 (3)
PTRH2 Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, 616263 (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)
RHBDF2 Tylosis with esophageal cancer, 148500 (3)
RNF213 {Moyamoya disease 2, susceptibility to}, 607151 (3)
RNF43 Sessile serrated polyposis cancer syndrome, 617108 (3)
SCN4A Hyperkalemic periodic paralysis, type 2, 170500 (3)
Hypokalemic periodic paralysis, type 2, 613345 (3)
Myasthenic syndrome, congenital, 16, 614198 (3)
Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3)
Paramyotonia congenita, 168300 (3)
SERPINF1 Osteogenesis imperfecta, type VI, 613982 (3)
SGSH Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900 (3)
SHPK [Sedoheptulokinase deficiency], 617213 (3)
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)
SLC9A3R1 Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287 (3)
SLFN14 Bleeding disorder, platelet-type, 20, 616913 (3)
TAF15 Chondrosarcoma, extraskeletal myxoid, 612237 (1)
TBCD Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3)
TEX14 ?Spermatogenic failure 23, 617707 (3)
TLK2 Mental retardation, autosomal dominant 57, 618050 (3)
TMC8 Epidermodysplasia verruciformis 2, 618231 (3)
TNFRSF13B Immunodeficiency, common variable, 2, 240500 (3)
Immunoglobulin A deficiency 2, 609529 (3)
TRPV3 Olmsted syndrome, 614594 (3)
?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400 (3)
TSEN54 Pontocerebellar hypoplasia type 2A, 277470 (3)
Pontocerebellar hypoplasia type 4, 225753 (3)
?Pontocerebellar hypoplasia type 5, 610204 (3)
UBTF Neurodegeneration, childhood-onset, with brain atrophy, 617672 (3)
UNC13D Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)
VPS53 Pontocerebellar hypoplasia, type 2E, 615851 (3)
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)
Hydrocephalus, congenital, 3, with brain anomalies, 617967 (3)
WNK4 Pseudohypoaldosteronism, type IIB, 614491 (3)
XYLT2 {Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3)
Spondyloocular syndrome, 605822 (3)
ZMYND15 ?Spermatogenic failure 14, 615842 (3)
ZNF750 Seborrhea-like dermatitis with psoriasiform elements, 610227 (3)

Genes at Clinical Genomics Database

ABCA5, ACE, ACOX1, ACTG1, AIPL1, ALOXE3, ATPAF2, AXIN2, B9D1, BRCA1, BRIP1, CACNA1G, CANT1, CARD14, CBX2, CCDC137, CCDC40, CD79B, CHRNE, CNTNAP1, COG1, COL1A1, COX10, CTC1, CTNS, DCXR, DGKE, DLX3, DNAI2, DPH1, EFTUD2, ELAC2, ENO3, FAM20A, FKBP10, FLCN, FOXN1, GAA, GPR179, HOXB1, ITGA2B, ITGB4, JUP, KANSL1, KIF1C, KLHL10, KRT10, KRT12, KRT13, KRT14, KRT25, MAPT, MYH2, MYH3, MYH8, MYO15A, NAGLU, NF1, NLRP1, PFN1, PGAP3, PIK3R5, PITPNM3, PNPO, PTRH2, PYCR1, RAI1, RHBDF2, RNF213, SCN4A, SERPINF1, SERPINF2, SGSH, SLC46A1, SLC4A1, SLC52A1, SLC9A3R1, SLFN14, TMC8, TNFRSF13B, TRPV3, TSEN54, UNC13D, VPS53, WDR81, WNK4, ZMYND15, ZNF750,
ABCA5 Hypertrichosis terminalis, generalized, with or without gingival hyperplasia
ACE Renal tubular dysgenesis
ACE serum levels
ACOX1 Peroxisomal acyl-CoA oxidase deficiency
ACTG1 Deafness, autosomal dominant 20
Baraitser-Winter syndrome 2
AIPL1 Leber congenital amaurosis 4
Retinitis pigmentosa, juvenile, AIPL1-related
Cone-rod dystrophy, AIPL1-related
ALOXE3 Ichthyosiform erythroderma, congenital, nonbullous, 1
ATPAF2 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 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
CHRNE Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
Myasthenic syndrome, fast-channel congenital
Myasthenic syndrome, slow-channel congenital
CNTNAP1 Lethal congenital contracture syndrome 7
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
DLX3 Trichodontoosseous syndrome
Amelogenesis imperfecta, type IV
DNAI2 Ciliary dyskinesia, primary, 9
DPH1 Developmental delay with short stature, dysmorphic features, and sparse hair
EFTUD2 Mandibulofacial dysostosis, Guion-Almeida type
Esophageal atresia, syndromic
ELAC2 Combined oxidative phosphorylation deficiency 17
ENO3 Glycogen storage disease XIII
FAM20A Amelogenesis imperfecta, type IG (Enamel-renal syndrome)
FKBP10 Osteogenesis imperfecta, type XI
Bruck syndrome 1
FLCN Birt-Hogg-Dube syndrome
Pneumothorax, primary spontaneous
FOXN1 T-cell immunodeficiency, congenital alopecia, and nail dystrophy
GAA Glycogen storage disease II
GPR179 Night blindness, congenital stationary, type 1E
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
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
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
KRT25 Woolly hair, autosomal recessive 3
MAPT Supranuclear palsy, progressive
Frontotemporal dementia
Parkinson-dementia sydnrome
Pick disease
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
PFN1 Amyotrophic lateral sclerosis 18
PGAP3 Hyperphosphatasia with mental retardation syndrome 4
PIK3R5 Ataxia-oculomotor apraxia 3
PITPNM3 Cone-rod dystrophy 5
PNPO Individuals may manifest with severe seizures starting in the immediate neonatal period (or even before birth), and medical treatment (with pyridoxine) can be effective as an antiepileptic agent
PTRH2 Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD)
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
SERPINF1 Osteogenesis imperfecta, type VI
SERPINF2 Alpha-2-plasmin inhibitor deficiency
SGSH Mucopolysaccharidosis type IIIA (Sanfilippo syndrome A)
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
SLC9A3R1 Nephrolithiasis/osteoporosis, hypophosphatemic, 2
SLFN14 Bleeding disorder, platelet-type, 20
TMC8 Epidermodysplasia verruciformis
TNFRSF13B Immunoglobulin A deficiency 2
Common variable immunodeficiency 2
TRPV3 Olmsted syndrome
Palmoplantar keratoderma, nonepidermolytic focal 2
TSEN54 Pontocerebellar hypoplasia, type 2A
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 5
UNC13D Hemophagocytic lymphohistiocytosis, familial 3
VPS53 Pontocerebellar hypoplasia, type 2E
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
WNK4 Pseudohypoaldosteronism, type IIB
ZMYND15 Spermatogenic failure 14
ZNF750 Seborrhea-like dermatitis with psoriasiform elements

Genes at HGMD

Summary

Number of Variants: 3144
Number of Genes: 561

Export to: CSV

AATF
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_002-4 17 rs1045056
dbSNP Clinvar 		35346641 1240.72 T C PASS 1/1 126 SYNONYMOUS_CODING LOW None 0.15675 0.15670 0.24273 None None None None None None AATF|0.980408321|1.45%

AATK
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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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 tsvc_variants_ionxpress_002-4 17 rs8073904
dbSNP Clinvar 		79095144 125.21 G A PASS 0/1 110 SYNONYMOUS_CODING LOW None 0.80531 0.80530 0.14925 None None None None None None AATK|0.00450864|86.39%
View tsvc_variants_ionxpress_002-4 17 rs7503604
dbSNP Clinvar 		79095629 521.46 C A PASS 1/1 65 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%

ABCA10
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 tsvc_variants_ionxpress_002-4 17 rs4968849
dbSNP Clinvar 		67178316 462.98 A G PASS 1/1 48 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 tsvc_variants_ionxpress_002-4 17 rs11077414
dbSNP Clinvar 		67212031 769.12 A G PASS 1/1 81 SYNONYMOUS_CODING LOW None 0.06470 0.47140 0.42465 None None None None None None ABCA10|0.002179826|90.49%
View tsvc_variants_ionxpress_002-4 17 rs12941264
dbSNP Clinvar 		67215712 673.69 C T PASS 1/1 72 SYNONYMOUS_CODING LOW None 0.59844 0.59840 0.32759 None None None None None None ABCA10|0.002179826|90.49%
View tsvc_variants_ionxpress_002-4 17 rs9909216
dbSNP Clinvar 		67212423 1528.58 G A PASS 1/1 163 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
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 tsvc_variants_ionxpress_002-4 17 rs536009
dbSNP Clinvar 		67273882 748.13 C A PASS 1/1 76 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 tsvc_variants_ionxpress_002-4 17 rs12449649
dbSNP Clinvar 		67260926 2124.87 A G PASS 1/1 227 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
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 tsvc_variants_ionxpress_002-4 17 rs2302134
dbSNP Clinvar 		67081830 1106.58 T C PASS 1/1 118 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 tsvc_variants_ionxpress_002-4 17 rs4968839
dbSNP Clinvar 		67125840 3011.2 C T PASS 1/1 319 NON_SYNONYMOUS_CODING MODERATE None 0.55511 0.55510 0.40099 0.35 0.00 None None None None None None ABCA6|0.006278632|84.32%
View tsvc_variants_ionxpress_002-4 17 rs7212506
dbSNP Clinvar 		67101718 3541.19 C T PASS 1/1 392 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 tsvc_variants_ionxpress_002-4 17 rs8068987
dbSNP Clinvar 		66873743 128.69 G A PASS 0/1 45 SYNONYMOUS_CODING LOW None 0.15455 0.15460 0.14647 None None None None None None ABCA8|0.008754907|81.9%
View tsvc_variants_ionxpress_002-4 17 rs1481
dbSNP Clinvar 		66872802 2801.04 G C PASS 1/1 310 SYNONYMOUS_CODING LOW None 0.81350 0.81350 0.26980 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 tsvc_variants_ionxpress_002-4 17 rs2302294
dbSNP Clinvar 		66985992 579.75 T G PASS 1/1 75 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 tsvc_variants_ionxpress_002-4 17 rs148120108
dbSNP Clinvar 		66981058 345.73 G A PASS 0/1 95 SYNONYMOUS_CODING LOW None 0.00146 None None None None None None ABCA9|0.017284198|75.69%
View tsvc_variants_ionxpress_002-4 17 rs2302291
dbSNP Clinvar 		67028260 3706.63 T C PASS 1/1 437 SYNONYMOUS_CODING LOW None 0.40695 0.40690 0.47932 None None None None None None ABCA9|0.017284198|75.69%
View tsvc_variants_ionxpress_002-4 17 rs1860447
dbSNP Clinvar 		67031457 1624.13 C T PASS 1/1 173 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
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_002-4 17 . 48746736 247.05 G A PASS 0/1 112 SYNONYMOUS_CODING LOW None 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 tsvc_variants_ionxpress_002-4 17 rs542939
dbSNP Clinvar 		27889986 1004.29 T C PASS 1/1 106 NON_SYNONYMOUS_CODING MODERATE None 0.76797 0.76800 0.30571 1.00 0.03 None None None None None None ABHD15|0.102676834|50.66%

ABI3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_002-4 17 rs616338
dbSNP Clinvar 		47297297 38.35 T C PASS 1/1 5 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%
View tsvc_variants_ionxpress_002-4 17 rs2233369
dbSNP Clinvar 		47293906 310.63 G A PASS 0/1 133 NON_SYNONYMOUS_CODING MODERATE None 0.10583 0.10580 0.04260 0.16 0.25 None None None None None None ABI3|0.032000436|68.63%

ABR
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_002-4 17 rs2262150
dbSNP Clinvar 		970413 680.29 C T PASS 1/1 71 SYNONYMOUS_CODING LOW None 0.89697 0.89700 0.13425 None None None None None None ABR|0.634601907|10.64%
View tsvc_variants_ionxpress_002-4 17 . 973211 19.08 T C PASS 0/1 10 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None ABR|0.634601907|10.64%

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 tsvc_variants_ionxpress_002-4 17 rs2304907
dbSNP Clinvar 		7983799 278.65 A G PASS 0/1 130 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 tsvc_variants_ionxpress_002-4 17 rs1470452
dbSNP Clinvar 		35478362 3132.59 T C PASS 1/1 327 SYNONYMOUS_CODING LOW None 1.00000 1.00000 0.00108 None None None None None None ACACA|0.94269074|2.39%
View tsvc_variants_ionxpress_002-4 17 rs58654829
dbSNP Clinvar 		35696804 256.63 G A PASS 0/1 70 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
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 tsvc_variants_ionxpress_002-4 17 . 7251751 198.06 GC G,... PASS 1/2 25 FRAME_SHIFT HIGH None None None None None None None ACAP1|0.086299912|53.89%
View tsvc_variants_ionxpress_002-4 17 rs4796407
dbSNP Clinvar 		7245371 193.81 A G PASS 1/1 22 SYNONYMOUS_CODING LOW None 0.31490 0.31490 0.40697 None None None None None None ACAP1|0.086299912|53.89%

ACBD4
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 tsvc_variants_ionxpress_002-4 17 . 43216409 56.95 CG C PASS 1/1 8 FRAME_SHIFT HIGH None None None None None None None ACBD4|0.054594192|61.31%

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 tsvc_variants_ionxpress_002-4 17 rs4316
dbSNP Clinvar 		61562309 100.4 C T PASS 0/1 112 SYNONYMOUS_CODING LOW None 0.51917 0.51920 0.42675 None None None None None None ACE|0.894558224|3.56%
View tsvc_variants_ionxpress_002-4 17 rs4298
dbSNP Clinvar 		61557200 22.36 C T PASS 0/1 42 SYNONYMOUS_CODING LOW None 0.14437 0.14440 0.16331 None None None None None None ACE|0.894558224|3.56%
View tsvc_variants_ionxpress_002-4 17 rs4331
dbSNP Clinvar 		61564052 231.34 A G PASS 0/1 77 SYNONYMOUS_CODING LOW None 0.52955 0.52960 0.44326 None None None None None None ACE|0.894558224|3.56%
View tsvc_variants_ionxpress_002-4 17 rs4362
dbSNP Clinvar 		61573761 78.12 T C PASS 0/1 65 SYNONYMOUS_CODING LOW None 0.58746 0.58750 0.49470 None None None None None None ACE|0.894558224|3.56%
View tsvc_variants_ionxpress_002-4 17 rs4309
dbSNP Clinvar 		61559923 68.84 C T PASS 0/1 53 SYNONYMOUS_CODING LOW None 0.42352 0.42350 0.33569 None None None None None None ACE|0.894558224|3.56%
View tsvc_variants_ionxpress_002-4 17 rs4343
dbSNP Clinvar 		61566031 574.75 G A PASS 0/1 291 SYNONYMOUS_CODING LOW None 0.64317 0.64320 0.43987 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 tsvc_variants_ionxpress_002-4 17 rs8065502
dbSNP Clinvar 		40048613 1823.41 A G PASS 1/1 189 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.90435 0.90440 0.12479 None None None None None None ACLY|0.44685425|18.3%
View tsvc_variants_ionxpress_002-4 17 . 40054080 23.3 TG CT PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE None None None None None None None ACLY|0.44685425|18.3%

ACOX1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_002-4 17 rs8065946
dbSNP Clinvar 		73945957 191.8 A G PASS 0/1 70 SYNONYMOUS_CODING LOW None 0.07169 0.07169 0.07158 None None None None None None ACOX1|0.181440529|38.86%
View tsvc_variants_ionxpress_002-4 17 rs1135640
dbSNP Clinvar 		73949540 145.26 G C PASS 0/1 95 NON_SYNONYMOUS_CODING MODERATE None 0.55072 0.55070 0.49131 0.17 0.01 None None None None None None ACOX1|0.181440529|38.86%

ACSF2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_002-4 17 rs9674937
dbSNP Clinvar 		48539035 195.71 T C PASS 1/1 20 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
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 tsvc_variants_ionxpress_002-4 17 rs1139405
dbSNP Clinvar 		79478019 490.62 G A PASS 0/1 181 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 tsvc_variants_ionxpress_002-4 17 rs1558083
dbSNP Clinvar 		42852604 375.67 G T PASS 1/1 39 SYNONYMOUS_CODING LOW None 0.64557 0.64560 0.41950 None None None None None None ADAM11|0.131633893|45.66%
View tsvc_variants_ionxpress_002-4 17 rs35936481
dbSNP Clinvar 		42851729 1196.71 C T PASS 1/1 127 SYNONYMOUS_CODING LOW None 0.64557 0.64560 0.40983 None None None None None None ADAM11|0.131633893|45.66%
View tsvc_variants_ionxpress_002-4 17 rs1558084
dbSNP Clinvar 		42852610 375.57 T C PASS 1/1 39 SYNONYMOUS_CODING LOW None 0.90495 0.90500 0.10518 None None None None None None ADAM11|0.131633893|45.66%
View tsvc_variants_ionxpress_002-4 17 rs8075210
dbSNP Clinvar 		42854610 1332.75 T C PASS 1/1 143 SYNONYMOUS_CODING LOW None 0.64537 0.64540 0.41973 None None None None None None ADAM11|0.131633893|45.66%
View tsvc_variants_ionxpress_002-4 17 rs2070605
dbSNP Clinvar 		42855554 195.41 T C PASS 1/1 20 SYNONYMOUS_CODING LOW None 0.64537 0.64540 0.41996 None None None None None None ADAM11|0.131633893|45.66%

AIPL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_002-4 17 rs12449580
dbSNP Clinvar 		6337247 339.94 C G PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.17991 0.17990 0.16539 0.00 0.58 None None None None None None AIPL1|0.064852727|58.69%
View tsvc_variants_ionxpress_002-4 17 . 6328797 52.18 GC G PASS 0/1 62 FRAME_SHIFT HIGH None None None None None None None AIPL1|0.064852727|58.69%
View tsvc_variants_ionxpress_002-4 17 rs2292546
dbSNP Clinvar 		6330068 329.84 T C PASS 1/1 33 SYNONYMOUS_CODING LOW None 0.71366 0.71370 0.26134 None None None None None None AIPL1|0.064852727|58.69%
View tsvc_variants_ionxpress_002-4 17 rs8075035
dbSNP Clinvar 		6331803 224.59 T C PASS 0/1 90 SYNONYMOUS_CODING LOW None 0.57588 0.57590 0.39474 None None None None None None AIPL1|0.064852727|58.69%

AKAP1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_002-4 17 rs1050515
dbSNP Clinvar 		55183716 146.57 T C PASS 0/1 138 SYNONYMOUS_CODING LOW None 0.59066 0.59070 0.45917 None None None None None None AKAP1|0.039700237|65.85%
View tsvc_variants_ionxpress_002-4 17 rs2230772
dbSNP Clinvar 		55183203 228.86 T C PASS 0/1 75 SYNONYMOUS_CODING LOW None 0.47824 0.47820 0.39136 None None None None None None AKAP1|0.039700237|65.85%

AKAP10
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_002-4 17 rs203462
dbSNP Clinvar 		19812541 215.46 T C PASS 0/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.39397 0.39400 0.45041 1.00 0.00 None None None None None None AKAP10|0.479048269|16.82%
View tsvc_variants_ionxpress_002-4 17 rs2108978
dbSNP Clinvar 		19861458 364.09 C T PASS 0/1 116 NON_SYNONYMOUS_CODING MODERATE None 0.38958 0.38960 0.44495 0.74 0.00 None None None None None None AKAP10|0.479048269|16.82%

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 tsvc_variants_ionxpress_002-4 17 rs434473
dbSNP Clinvar 		6904934 143.47 A G PASS 0/1 68 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 tsvc_variants_ionxpress_002-4 17 rs1042357
dbSNP Clinvar 		6905061 257.51 T G PASS 0/1 159 SYNONYMOUS_CODING LOW None 0.57228 0.57230 0.42734 None None None None None None ALOX12|0.072773622|56.83%

ALOX15B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_002-4 17 rs9898751
dbSNP Clinvar 		7950952 1093.66 C A PASS 1/1 115 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.44748 0.44750 0.44649 None None None None None None ALOX15B|0.008183706|82.49%
View tsvc_variants_ionxpress_002-4 17 rs6503070
dbSNP Clinvar 		7948175 24.99 C T PASS 0/1 5 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.59724 0.59720 0.44572 None None None None None None ALOX15B|0.008183706|82.49%
View tsvc_variants_ionxpress_002-4 17 rs11541083
dbSNP Clinvar 		7950377 946.68 C T PASS 1/1 93 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.24840 0.24840 0.26411 None None None None None None ALOX15B|0.008183706|82.49%
View tsvc_variants_ionxpress_002-4 17 rs4792147
dbSNP Clinvar 		7951819 1036.82 A G PASS 1/1 103 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%

ALOXE3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_002-4 17 rs3027232
dbSNP Clinvar 		8022065 126.99 G A PASS 0/1 72 None None None 0.37400 0.37400 0.00 0.00 None None None None None None ALOXE3|0.073088496|56.77%

AMZ2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_002-4 17 rs3213690
dbSNP Clinvar 		66246416 3118.54 A G PASS 1/1 328 NON_SYNONYMOUS_CODING MODERATE None 0.79792 0.79790 0.24127 1.00 0.00 None None None None None None AMZ2|0.012004494|79.24%
View tsvc_variants_ionxpress_002-4 17 rs7105
dbSNP Clinvar 		66253095 3154.03 T A PASS 1/1 332 SYNONYMOUS_CODING LOW None 0.37061 0.37060 0.31332 None None None None None None AMZ2|0.012004494|79.24%

ANKFN1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_002-4 17 rs10852985
dbSNP Clinvar 		54534634 273.93 G A PASS 0/1 137 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 tsvc_variants_ionxpress_002-4 17 rs8069322
dbSNP Clinvar 		54450134 151.12 G A PASS 0/1 69 SYNONYMOUS_CODING LOW None 0.67232 0.67230 0.39474 None None None None None None ANKFN1|0.698610051|8.53%
View tsvc_variants_ionxpress_002-4 17 rs957724
dbSNP Clinvar 		54450038 146.56 C A PASS 0/1 71 SYNONYMOUS_CODING LOW None 0.61562 0.61560 0.46432 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 tsvc_variants_ionxpress_002-4 17 rs2020118
dbSNP Clinvar 		4088291 1486.85 C T PASS 1/1 157 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%

ANKRD40
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 tsvc_variants_ionxpress_002-4 17 . 48777065 30.37 T TG PASS 1/1 5 FRAME_SHIFT HIGH None None None None None None None ANKRD40|0.099454901|51.27%

AOC3
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 tsvc_variants_ionxpress_002-4 17 . 41003694 126.26 C CG PASS 1/1 15 FRAME_SHIFT HIGH None None None None None None None AOC3|0.087399951|53.73%

AP2B1
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 tsvc_variants_ionxpress_002-4 17 rs1049379
dbSNP Clinvar 		33998802 357.0 G C PASS 0/1 171 SYNONYMOUS_CODING LOW None 0.47105 0.47100 0.49354 None None None None None None AP2B1|0.759088782|6.87%

ARHGAP23
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_002-4 17 rs9891156
dbSNP Clinvar 		36646386 1477.66 A G PASS 1/1 153 SYNONYMOUS_CODING LOW None 0.99082 0.99080 0.02015 None None None None None None ARHGAP23|0.124657713|46.71%
View tsvc_variants_ionxpress_002-4 17 rs7405920
dbSNP Clinvar 		36635721 96.43 C T PASS 1/1 11 SYNONYMOUS_CODING LOW None 0.95687 0.95690 0.05105 None None None None None None ARHGAP23|0.124657713|46.71%

ARHGAP27
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_002-4 17 rs2959953
dbSNP Clinvar 		43507008 130.89 G C PASS 0/1 55 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%

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 tsvc_variants_ionxpress_002-4 17 rs871841
dbSNP Clinvar 		8216468 194.89 T C PASS 0/1 130 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 tsvc_variants_ionxpress_002-4 17 rs62637603
dbSNP Clinvar 		8215927 67.0 C CG,T PASS 1/2 13 FRAME_SHIFT HIGH None 0.00719 0.00719 0.01292 None None None None None None ARHGEF15|0.03636471|66.99%
View tsvc_variants_ionxpress_002-4 17 rs3744647
dbSNP Clinvar 		8224276 276.54 T C PASS 0/1 109 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%

ARL16
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 tsvc_variants_ionxpress_002-4 17 rs8066889
dbSNP Clinvar 		79650828 34.09 T G PASS 0/1 12 NON_SYNONYMOUS_CODING MODERATE None 0.24820 0.24820 0.25755 0.86 0.00 None None None None None None ARL16|0.016560064|76.15%,HGS|0.175136436|39.63%

ARL5C
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 tsvc_variants_ionxpress_002-4 17 rs16521
dbSNP Clinvar 		37316818 161.49 G A PASS 0/1 65 None None None 0.03694 0.03694 0.04555 None None None None None None ARL5C|0.012423573|78.94%
View tsvc_variants_ionxpress_002-4 17 rs657723
dbSNP Clinvar 		37319103 262.41 T C PASS 0/1 70 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
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 tsvc_variants_ionxpress_002-4 17 rs1045280
dbSNP Clinvar 		4622638 307.19 C T PASS 0/1 92 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
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_002-4 17 rs1558876
dbSNP Clinvar 		66364691 615.83 C G PASS 0/1 203 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 tsvc_variants_ionxpress_002-4 17 rs11657051
dbSNP Clinvar 		66391314 184.56 C T PASS 0/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.00779 0.00779 0.02937 0.10 0.00 None None None None None None ARSG|0.038924858|66.13%
View tsvc_variants_ionxpress_002-4 17 rs1558878
dbSNP Clinvar 		66364804 523.9 T C PASS 0/1 191 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 tsvc_variants_ionxpress_002-4 17 rs1558877
dbSNP Clinvar 		66364749 590.55 T C PASS 0/1 208 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 tsvc_variants_ionxpress_002-4 17 rs7218599
dbSNP Clinvar 		42248346 559.37 A T PASS 1/1 62 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 tsvc_variants_ionxpress_002-4 17 rs7217858
dbSNP Clinvar 		42254527 67.3 T G PASS 0/1 40 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
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 tsvc_variants_ionxpress_002-4 17 rs2304979
dbSNP Clinvar 		7012077 198.3 C T PASS 0/1 98 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.25499 0.25500 0.22305 None None None None None None ASGR2|0.003649861|87.52%
View tsvc_variants_ionxpress_002-4 17 rs2304978
dbSNP Clinvar 		7012079 243.04 C T PASS 0/1 94 NON_SYNONYMOUS_CODING MODERATE None 0.25499 0.25500 0.22382 0.70 0.00 None None None None None None ASGR2|0.003649861|87.52%

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 tsvc_variants_ionxpress_002-4 17 rs9893935
dbSNP Clinvar 		31618732 253.67 A G PASS 0/1 150 SYNONYMOUS_CODING LOW None 0.55990 0.55990 0.48428 None None None None None None ASIC2|0.867321872|4.31%
View tsvc_variants_ionxpress_002-4 17 rs2228989
dbSNP Clinvar 		32483270 786.12 C G PASS 1/1 83 None None None 0.23223 0.23220 0.14789 None None None None None None ASIC2|0.867321872|4.31%
View tsvc_variants_ionxpress_002-4 17 rs2228990
dbSNP Clinvar 		32483237 808.33 A G PASS 1/1 85 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 tsvc_variants_ionxpress_002-4 17 rs13087
dbSNP Clinvar 		79974731 109.58 T C PASS 0/1 29 SYNONYMOUS_CODING LOW None 0.58027 0.58030 0.35362 None None None None None None ASPSCR1|0.049924579|62.68%
View tsvc_variants_ionxpress_002-4 17 rs8074498
dbSNP Clinvar 		79954544 41.86 T A PASS 0/1 60 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
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 tsvc_variants_ionxpress_002-4 17 rs11080134
dbSNP Clinvar 		29161503 284.2 A G PASS 0/1 105 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%
View tsvc_variants_ionxpress_002-4 17 rs369315723
dbSNP Clinvar 		29164242 63.18 T C PASS 0/1 43 SYNONYMOUS_CODING LOW None 0.00016 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 tsvc_variants_ionxpress_002-4 17 rs1642763
dbSNP Clinvar 		7557419 1738.28 A G PASS 1/1 180 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
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_002-4 17 rs1800911
dbSNP Clinvar 		3848013 73.84 A C PASS 1/1 8 SYNONYMOUS_CODING LOW None 0.33626 0.33630 0.43716 None None None None None None ATP2A3|0.0615045|59.44%
View tsvc_variants_ionxpress_002-4 17 rs758641
dbSNP Clinvar 		3846802 1151.82 A G PASS 1/1 123 SYNONYMOUS_CODING LOW None 0.33327 0.33330 0.43911 None None None None None None ATP2A3|0.0615045|59.44%
View tsvc_variants_ionxpress_002-4 17 rs1062683
dbSNP Clinvar 		3839685 136.73 G A PASS 0/1 62 SYNONYMOUS_CODING LOW None 0.16953 0.16950 0.20421 None None None None None None ATP2A3|0.0615045|59.44%