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+ Genes 585

Genes:
AATK, ABCA10, ABCA5, ABCA6, ABCA8, ABCA9, ABCC3, ABHD15, ABI3, ABR, AC005544.1, AC006435.1, AC040977.1, AC061992.1, ACACA, ACAP1, ACE, ACLY, ACSF2, ACTG1, ADAM11, ADORA2B, ADPRM, AIPL1, AKAP1, AKAP10, ALDH3A1, ALDH3A2, ALOX12, ALOX12B, ALOX15B, ALOXE3, AMZ2, ANKFN1, ANKFY1, AP2B1, ARHGAP23, ARHGEF15, ARL5C, ARRB2, ARSG, ASB16, ASGR2, ASPSCR1, ATAD5, ATP1B2, ATP2A3, AURKB, AXIN2, AZI1, B3GNTL1, B4GALNT2, B9D1, BAIAP2, BCAS3, BCL6B, BIRC5, BLMH, BRIP1, BZRAP1, C17orf102, C17orf104, C17orf107, C17orf47, C17orf49, C17orf50, C17orf53, C17orf58, C17orf59, C17orf62, C17orf64, C17orf66, C17orf70, C17orf72, C17orf74, C17orf77, C17orf80, C17orf82, C17orf96, C17orf97, C17orf99, C1QTNF1, CA10, CACNA1G, CACNB1, CACNG5, CAMKK1, CAMTA2, CANT1, CARD14, CASKIN2, CBX2, CBX8, CCDC137, CCDC144A, CCDC144NL, CCDC40, CCDC57, CCL15, CCL16, CCL23, CCL3L3, CCL4, CCL4L2, CCT6B, CD300A, CD300C, CD300E, CD300LB, CD300LD, CD300LF, CD68, CD79B, CDC27, CDK5RAP3, CDR2L, CDRT1, CDRT15, CEP112, CHAD, CHRNE, CLEC10A, CLUH, CNTNAP1, CNTROB, COASY, COG1, COIL, COL1A1, COPRS, COPS3, COX10, CRK, CSF3, CSHL1, CTB-96E2.2, CTC1, CTNS, CUEDC1, CXCL16, CYB561, CYB5D1, CYGB, DCAKD, DDX5, DDX52, DGKE, DHRS11, DHRS13, DHX33, DNAH17, DNAH17-AS1, DNAH2, DNAH9, DNAI2, DOC2B, DPH1, DRG2, DUS1L, EFCAB5, EIF4A3, EIF5A, EME1, ENDOV, ENGASE, ENO3, ENPP7, ENTHD2, EPN2, EPN3, EPX, ERAL1, ERBB2, ERN1, EVI2A, EVPL, EVPLL, FAM104A, FAM187A, FAM20A, FAM211A, FAM83G, FASN, FBF1, FBXO39, FBXO47, FBXW10, FDXR, FMNL1, FN3K, FN3KRP, FNDC8, FOXK2, FOXN1, FZD2, GAA, GAS2L2, GAS7, GAST, GEMIN4, GFAP, GGT6, GID4, GIP, GIT1, GLP2R, GLTPD2, GNGT2, GOSR2, GP1BA, GPATCH8, GPR142, GPR179, GPRC5C, GRB7, GRIN2C, GSDMA, GSG2, GUCY2D, H3F3B, HAP1, HELZ, HES7, HEXDC, HID1, HIGD1B, HOXB1, HOXB5, HOXB7, HS3ST3A1, HS3ST3B1, HSF5, ICT1, IFI35, INTS2, ITGA2B, ITGAE, ITGB3, ITGB4, JUP, KANSL1, KAT7, KCNH6, KCNJ12, KDM6B, KIAA0195, KIAA0753, KIF19, KIF1C, KIF2B, KLHL10, KLHL11, KRT10, KRT12, KRT13, KRT14, KRT15, KRT16, KRT19, KRT23, KRT24, KRT25, KRT26, KRT27, KRT28, KRT31, KRT32, KRT34, KRT35, KRT36, KRT37, KRT38, KRT39, KRT40, KRT9, KRTAP1-1, KRTAP1-4, KRTAP16-1, KRTAP29-1, KRTAP3-1, KRTAP3-3, KRTAP4-1, KRTAP4-11, KRTAP4-16P, KRTAP4-2, KRTAP4-3, KRTAP4-5, KRTAP4-6, KRTAP4-7, KRTAP4-8, KRTAP4-9, KRTAP9-1, KRTAP9-2, KRTAP9-3, KRTAP9-4, KRTAP9-6, KRTAP9-7, KRTAP9-8, KSR1, LASP1, LEPREL4, LGALS3BP, LGALS9, LGALS9B, LGALS9C, LIG3, LLGL1, LLGL2, LPO, LRRC37A, LRRC37A2, LRRC45, LSMD1, LYZL6, MAP2K3, MAP2K6, MARCH10, MED13, METRNL, METTL2A, MGAT5B, MIEF2, MINK1, MLLT6, MLX, MNT, MPP2, MPRIP, MRC2, MRPL10, MRPL38, MRPL45, MRPS7, MXRA7, MYADML2, MYBBP1A, MYCBPAP, MYH1, MYH10, MYH13, MYH3, MYH8, MYO15A, MYO15B, MYO18A, MYO1C, NAGLU, NBR1, NCOR1, NDEL1, NF1, NLE1, NLGN2, NLRP1, NMT1, NOL11, NOS2, NOTUM, NPTX1, NSF, NSRP1, NT5C, NT5C3B, NTN1, NUP85, NUP88, NXN, ODF4, OGFOD3, OR1A1, OR1A2, OR1D5, OR1E1, OR1E2, OR3A1, OR3A3, OR4D2, OSBPL7, OTOP2, OTOP3, PCGF2, PCTP, PELP1, PEMT, PER1, PFAS, PFN1, PGAP3, PIK3R5, PITPNM3, PLCD3, PLD2, PLEKHH3, PLXDC1, PMP22, PNPO, POLDIP2, POLR2A, PPY, PRKCA, PRPSAP2, PRR15L, PSMB6, PTGES3L-AARSD1, PYCR1, PYY, RAB11FIP4, RABEP1, RAC3, RAI1, RAP1GAP2, RBFOX3, RDM1, RECQL5, RFNG, RHBDF2, RNF213, RNF222, RNF43, RNFT1, RNMTL1, RP11-1055B8.7, RP11-1407O15.2, RP11-477N12.3, RP11-51L5.7, RPA1, RPL19, RPTOR, RSAD1, RTN4RL1, RUNDC1, RUNDC3A, SARM1, SCARF1, SCIMP, SCN4A, SCRN2, SDK2, SEC14L1, SECTM1, SEPT9, SERPINF1, SEZ6, SGSH, SGSM2, SHMT1, SHPK, SIRT7, SKAP1, SLC13A2, SLC16A13, SLC16A3, SLC16A5, SLC16A6, SLC25A10, SLC25A19, SLC25A39, SLC26A11, SLC2A4, SLC35G6, SLC38A10, SLC39A11, SLC43A2, SLC47A2, SLC52A1, SLC5A10, SLFN11, SLFN12, SLFN12L, SLFN13, SLFN14, SLFN5, SMCR8, SMG6, SMG8, SMTNL2, SMURF2, SMYD4, SNF8, SP2, SPAG5, SPATA20, SPATA22, SPHK1, SPNS2, SPNS3, SPPL2C, SRCIN1, SREBF1, SRP68, SRSF1, SRSF2, SSH2, STARD3, STX8, STXBP4, SUZ12, SYNGR2, TADA2A, TANC2, TAOK1, TAX1BP3, TBC1D28, TBC1D3B, TBC1D3F, TBC1D3H, TBCD, TBX2, TBX21, TBX4, TCAP, TEKT1, TEKT3, TEX14, TK1, TLCD2, TLK2, TMC6, TMC8, TMEM104, TMEM256-PLSCR3, TMEM92, TMEM99, TMUB2, TNFRSF13B, TNFSF12, TNK1, TNRC6C, TOB1, TOP3A, TP53, TRIM16, TRIM16L, TRIM25, TRIM65, TRPV1, TRPV2, TRPV3, TSEN54, TSPAN10, TSR1, TTLL6, TUBD1, TUBG1, TUBG2, TUSC5, TVP23B, TVP23C, UBALD2, UBBP4, UBE2O, UBE2Z, UBTF, ULK2, UNC13D, UNK, USP22, USP36, USP43, USP6, UTP18, UTP6, UTS2R, VMO1, VPS53, VTN, WDR16, WDR81, WFIKKN2, WIPI1, WRAP53, WSB1, WSCD1, XAF1, XYLT2, YBX2, ZBTB4, ZMYND15, ZNF286A, ZNF286B, ZNF287, ZNF624, ZNF750, ZNF830, ZZEF1,

+ Genes associated with diseases 117

Genes at Omim

ABCA5, ACACA, ACE, ACTG1, AIPL1, AKAP10, ALDH3A2, ALOX12B, ALOXE3, ARSG, ASPSCR1, AXIN2, B9D1, BRIP1, CACNA1G, CANT1, CARD14, CBX2, CCDC40, CD79B, CHRNE, CNTNAP1, COASY, COG1, COL1A1, COX10, CTC1, CTNS, CYB561, DGKE, DNAH9, DNAI2, DPH1, ENO3, EPX, ERAL1, ERBB2, FAM20A, FDXR, FOXN1, FZD2, GAA, GEMIN4, GFAP, GOSR2, GP1BA, GPR179, GUCY2D, HES7, HOXB1, ITGA2B, ITGB3, ITGB4, JUP, KANSL1, KIAA0753, KIF1C, KLHL10, KRT10, KRT12, KRT13, KRT14, KRT16, KRT25, KRT9, MRPS7, MYH3, MYH8, MYO15A, NAGLU, NF1, NLRP1, NTN1, NUP85, PFN1, PGAP3, PIK3R5, PITPNM3, PMP22, PNPO, PRKCA, PYCR1, RAI1, RHBDF2, RNF213, RNF43, SCN4A, SEPT9, SERPINF1, SGSH, SHPK, SLC25A19, SLC52A1, SLFN14, TBCD, TBX2, TBX21, TBX4, TCAP, TEX14, TLK2, TMC6, TMC8, TNFRSF13B, TOP3A, TP53, TRPV3, TSEN54, TUBG1, UBTF, UNC13D, VPS53, WDR81, WRAP53, 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)
ACTG1 Baraitser-Winter syndrome 2, 614583 (3)
Deafness, autosomal dominant 20/26, 604717 (3)
AIPL1 Cone-rod dystrophy, 604393 (3)
Leber congenital amaurosis 4, 604393 (3)
Retinitis pigmentosa, juvenile, 604393 (3)
AKAP10 {Cardiac conduction defect, susceptibility to}, 115080 (3)
ALDH3A2 Sjogren-Larsson syndrome, 270200 (3)
ALOX12B Ichthyosis, congenital, autosomal recessive 2, 242100 (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)
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)
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)
COASY Neurodegeneration with brain iron accumulation 6, 615643 (3)
Pontocerebellar hypoplasia, type 12, 618266 (3)
COG1 Congenital disorder of glycosylation, type IIg, 611209 (3)
COL1A1 Caffey disease, 114000 (3)
Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060 (3)
Osteogenesis imperfecta, type I, 166200 (3)
Osteogenesis imperfecta, type II, 166210 (3)
Osteogenesis imperfecta, type III, 259420 (3)
Osteogenesis imperfecta, type IV, 166220 (3)
{Bone mineral density variation QTL, osteoporosis}, 166710 (3)
COX10 Leigh syndrome due to mitochondrial COX4 deficiency, 256000 (3)
Mitochondrial complex IV deficiency, 220110 (3)
CTC1 Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3)
CTNS Cystinosis, atypical nephropathic, 219800 (3)
Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 (3)
Cystinosis, nephropathic, 219800 (3)
Cystinosis, ocular nonnephropathic, 219750 (3)
CYB561 Orthostatic hypotension 2, 618182 (3)
DGKE {Hemolytic uremic syndrome, atypical, susceptibility to, 7}, 615008 (3)
Nephrotic syndrome, type 7, 615008 (3)
DNAH9 Ciliary dyskinesia, primary, 40, 618300 (3)
DNAI2 Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3)
DPH1 Developmental delay with short stature, dysmorphic features, and sparse hair, 616901 (3)
ENO3 ?Glycogen storage disease XIII, 612932 (3)
EPX [Eosinophil peroxidase deficiency], 261500 (3)
ERAL1 Perrault syndrome 6, 617565 (3)
ERBB2 Adenocarcinoma of lung, somatic, 211980 (3)
Gastric cancer, somatic, 613659 (3)
Glioblastoma, somatic, 137800 (3)
Ovarian cancer, somatic, (3)
FAM20A Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 (3)
FDXR Auditory neuropathy and optic atrophy, 617717 (3)
FOXN1 T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3)
FZD2 Omodysplasia 2, 164745 (3)
GAA Glycogen storage disease II, 232300 (3)
GEMIN4 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 (3)
GFAP Alexander disease, 203450 (3)
GOSR2 Epilepsy, progressive myoclonic 6, 614018 (3)
GP1BA Bernard-Soulier syndrome, type A1 (recessive), 231200 (3)
Bernard-Soulier syndrome, type A2 (dominant), 153670 (3)
{Nonarteritic anterior ischemic optic neuropathy, susceptibility to}, 258660 (3)
von Willebrand disease, platelet-type, 177820 (3)
GPR179 Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3)
GUCY2D Cone-rod dystrophy 6, 601777 (3)
Leber congenital amaurosis 1, 204000 (3)
?Choroidal dystrophy, central areolar 1, 215500 (3)
HES7 Spondylocostal dysostosis 4, autosomal recessive, 613686 (3)
HOXB1 Facial paresis, hereditary congenital, 3, 614744 (3)
ITGA2B Glanzmann thrombasthenia, 273800 (3)
Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3)
Thrombocytopenia, neonatal alloimmune, BAK antigen related (3)
ITGB3 Glanzmann thrombasthenia, 273800 (3)
Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3)
{Myocardial infarction, susceptibility to}, 608446 (3)
Purpura, posttransfusion (3)
Thrombocytopenia, neonatal alloimmune (3)
ITGB4 Epidermolysis bullosa of hands and feet, 131800 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3)
JUP Arrhythmogenic right ventricular dysplasia 12, 611528 (3)
Naxos disease, 601214 (3)
KANSL1 Koolen-De Vries syndrome, 610443 (3)
KIAA0753 ?Orofaciodigital syndrome XV, 617127 (3)
KIF1C Spastic ataxia 2, autosomal recessive, 611302 (3)
KLHL10 Spermatogenic failure 11, 615081 (3)
KRT10 Ichthyosis with confetti, 609165 (3)
Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)
Epidermolytic hyperkeratosis, 113800 (3)
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)
MRPS7 ?Combined oxidative phosphorylation deficiency 34, 617872 (3)
MYH3 Arthrogryposis, distal, type 2A, 193700 (3)
Arthrogryposis, distal, type 2B, 601680 (3)
Arthrogryposis, distal, type 8, 178110 (3)
MYH8 Carney complex variant, 608837 (3)
Trismus-pseudocamptodactyly syndrome, 158300 (3)
MYO15A Deafness, autosomal recessive 3, 600316 (3)
NAGLU Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3)
?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 (3)
NF1 Leukemia, juvenile myelomonocytic, 607785 (3)
Neurofibromatosis, familial spinal, 162210 (3)
Neurofibromatosis, type 1, 162200 (3)
Neurofibromatosis-Noonan syndrome, 601321 (3)
Watson syndrome, 193520 (3)
NLRP1 Autoinflammation with arthritis and dyskeratosis, 617388 (3)
{Vitiligo-associated multiple autoimmune disease susceptibility 1}, 606579 (3)
Palmoplantar carcinoma, multiple self-healing, 615225 (3)
NTN1 Mirror movements 4, 618264 (3)
NUP85 Nephrotic syndrome, type 17, 618176 (3)
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)
PMP22 Charcot-Marie-Tooth disease, type 1A, 118220 (3)
Charcot-Marie-Tooth disease, type 1E, 118300 (3)
Dejerine-Sottas disease, 145900 (3)
Neuropathy, recurrent, with pressure palsies, 162500 (3)
?Neuropathy, inflammatory demyelinating, 139393 (3)
Roussy-Levy syndrome, 180800 (3)
PNPO Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3)
PRKCA Pituitary tumor, invasive (3)
PYCR1 Cutis laxa, autosomal recessive, type IIB, 612940 (3)
Cutis laxa, autosomal recessive, type IIIB, 614438 (3)
RAI1 Smith-Magenis syndrome, 182290 (3)
RHBDF2 Tylosis with esophageal cancer, 148500 (3)
RNF213 {Moyamoya disease 2, susceptibility to}, 607151 (3)
RNF43 Sessile serrated polyposis cancer syndrome, 617108 (3)
SCN4A Hyperkalemic periodic paralysis, type 2, 170500 (3)
Hypokalemic periodic paralysis, type 2, 613345 (3)
Myasthenic syndrome, congenital, 16, 614198 (3)
Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3)
Paramyotonia congenita, 168300 (3)
SEPT9 Amyotrophy, hereditary neuralgic, 162100 (3)
Leukemia, acute myeloid, therapy-related (1)
Ovarian carcinoma (1)
SERPINF1 Osteogenesis imperfecta, type VI, 613982 (3)
SGSH Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900 (3)
SHPK [Sedoheptulokinase deficiency], 617213 (3)
SLC25A19 Microcephaly, Amish type, 607196 (3)
Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (3)
SLC52A1 Riboflavin deficiency, 615026 (3)
SLFN14 Bleeding disorder, platelet-type, 20, 616913 (3)
TBCD Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3)
TBX2 Vertebral anomalies and variable endocrine and T-cell dysfunction, 618223 (3)
TBX21 Asthma and nasal polyps, 208550 (3)
{Asthma, aspirin-induced, susceptibility to}, 208550 (3)
TBX4 Ischiocoxopodopatellar syndrome, 147891 (3)
TCAP Cardiomyopathy, hypertrophic, 25, 607487 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 7, 601954 (3)
TEX14 ?Spermatogenic failure 23, 617707 (3)
TLK2 Mental retardation, autosomal dominant 57, 618050 (3)
TMC6 Epidermodysplasia verruciformis, 226400 (3)
TMC8 Epidermodysplasia verruciformis 2, 618231 (3)
TNFRSF13B Immunodeficiency, common variable, 2, 240500 (3)
Immunoglobulin A deficiency 2, 609529 (3)
TOP3A Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097 (3)
?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 (3)
TP53 {Glioma susceptibility 1}, 137800 (3)
Bone marrow failure syndrome 5, 618165 (3)
Breast cancer, somatic, 114480 (3)
Hepatocellular carcinoma, somatic, 114550 (3)
{Osteosarcoma}, 259500 (3)
Li-Fraumeni syndrome, 151623 (3)
Nasopharyngeal carcinoma, somatic, 607107 (3)
Pancreatic cancer, somatic 260350 (3)
{Adrenocortical carcinoma, pediatric}, 202300 (3)
{Basal cell carcinoma 7}, 614740 (3)
{Choroid plexus papilloma}, 260500 (3)
{Colorectal cancer}, 114500 (3)
TRPV3 Olmsted syndrome, 614594 (3)
?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400 (3)
TSEN54 Pontocerebellar hypoplasia type 2A, 277470 (3)
Pontocerebellar hypoplasia type 4, 225753 (3)
?Pontocerebellar hypoplasia type 5, 610204 (3)
TUBG1 Cortical dysplasia, complex, with other brain malformations 4, 615412 (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)
WRAP53 Dyskeratosis congenita, autosomal recessive 3, 613988 (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, ACTG1, AIPL1, ALDH3A2, ALOX12B, ALOXE3, AXIN2, B9D1, BRIP1, CACNA1G, CANT1, CARD14, CBX2, CCDC137, CCDC40, CD79B, CHRNE, CNTNAP1, COASY, COG1, COL1A1, COX10, CTC1, CTNS, DGKE, DNAI2, DPH1, EIF4A3, ENO3, EPX, FAM20A, FOXN1, GAA, GFAP, GOSR2, GP1BA, GPR179, GUCY2D, HES7, HOXB1, ITGA2B, ITGB3, ITGB4, JUP, KANSL1, KIF1C, KLHL10, KRT10, KRT12, KRT13, KRT14, KRT16, KRT25, KRT9, MYH3, MYH8, MYO15A, NAGLU, NF1, NLRP1, PFN1, PGAP3, PIK3R5, PITPNM3, PMP22, PNPO, PYCR1, RAI1, RHBDF2, RNF213, SCN4A, SEPT9, SERPINF1, SGSH, SLC25A19, SLC52A1, SLFN14, TBX4, TCAP, TMC6, TMC8, TNFRSF13B, TP53, TRPV3, TSEN54, TUBG1, UNC13D, VPS53, WDR81, WRAP53, ZMYND15, ZNF750,
ABCA5 Hypertrichosis terminalis, generalized, with or without gingival hyperplasia
ACE Renal tubular dysgenesis
ACE serum levels
ACTG1 Deafness, autosomal dominant 20
Baraitser-Winter syndrome 2
AIPL1 Leber congenital amaurosis 4
Retinitis pigmentosa, juvenile, AIPL1-related
Cone-rod dystrophy, AIPL1-related
ALDH3A2 Sjogren-Larsson syndrome
ALOX12B Ichthyosiform erythroderma, congenital, nonbullous, 1
ALOXE3 Ichthyosiform erythroderma, congenital, nonbullous, 1
AXIN2 Oligodontia-colorectal cancer syndrome
B9D1 Meckel syndrome 9
BRIP1 Breast cancer
Fanconi anemia, complementation group J
CACNA1G Spinocerebellar ataxia 42
CANT1 Desbuquois dysplasia 1
CARD14 Psoriasis 2
CBX2 46,XY sex reversal 5
CCDC137 Schizophrenia
CCDC40 Ciliary dyskinesia, primary, 15
CD79B Agammaglobulinemia 6
CHRNE Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
Myasthenic syndrome, fast-channel congenital
Myasthenic syndrome, slow-channel congenital
CNTNAP1 Lethal congenital contracture syndrome 7
COASY Neurodegeneration with brain iron accumulation 6
COG1 Congenital disorder of glycosylation, type IIg
COL1A1 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type VII, autosomal dominant
COX10 Mitochondrial complex IV deficiency
Leigh syndrome
CTC1 Cerebroretinal microangiopathy with calcifications and cysts
CTNS Cystinosis
DGKE Nephrotic syndrome, type 7
DNAI2 Ciliary dyskinesia, primary, 9
DPH1 Developmental delay with short stature, dysmorphic features, and sparse hair
EIF4A3 Richieri-Costa-Pereira Syndrome
ENO3 Glycogen storage disease XIII
EPX Eosinophil peroxidase deficiency
FAM20A Amelogenesis imperfecta, type IG (Enamel-renal syndrome)
FOXN1 T-cell immunodeficiency, congenital alopecia, and nail dystrophy
GAA Glycogen storage disease II
GFAP Alexander disease
GOSR2 Epilepsy, progessive myoclonic 6
GP1BA Bernard-Soulier syndrome, type A2
Bernard-Soulier syndrome, type A1
Pseudo-von Willebrand disease
GPR179 Night blindness, congenital stationary, type 1E
GUCY2D Cone-rod dystrophy 6
Leber congenital amaurosis, type 1
Cone-Rod dystrophy, autosomal recessive
HES7 Spondylocostal dysostosis 4, autosomal recessive
HOXB1 Facial paresis, hereditary congenital, 3
ITGA2B Glanzmann thrombasthenia
ITGB3 Bleeding disorder, platelet-type, 16, autosomal dominant
Glanzmann thrombasthenia
Thrombocytopenia, neonatal alloimmune
ITGB4 Epidermolysis bullosa, junctional, with pyloric atresia
Epidermolysis bullosa, junctional, non-Herlitz type
Epidermolysis bullosa simplex, Weber-Cockayne type
JUP Arrhythmogenic right ventricular dysplasia, familial, 12
Naxos disease
KANSL1 Koolen-de Vries syndrom
KIF1C Spastic ataxia 2, autosomal recessive
KLHL10 Spermatogenic failure 11
KRT10 Erythroderma, ichthyosiform, congenital reticular
Aaru disease
Ichthyosis, cyclic, with epidermolytic hyperkeratosis
Epidermolytic hyperkeratosis
Ichthyosis with confetti
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)
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
PMP22 Roussy-Levy syndrome
Charcot-Marie-Tooth syndrome, type 1A
Charcot-Marie-Tooth syndrome with deafness (type 1E)
Neuropathy, hereditary, with liability to pressurve palsies
Dejerine-Sottas disease
Neuropathy, inflammatory demyelinating
PNPO Individuals may manifest with severe seizures starting in the immediate neonatal period (or even before birth), and medical treatment (with pyridoxine) can be effective as an antiepileptic agent
PYCR1 Cutis laxa, autosomal recessive, type IIB
Cutis laxa, autosomal recessive type IIIB
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
SLC52A1 Maternal riboflavin deficiency
SLFN14 Bleeding disorder, platelet-type, 20
TBX4 Small patella syndrome
TCAP Cardiomyopathy, dilated, 1N
Cardiomyopathy, familial hypertrophic 25
Muscular dystrophy, limb-girdle, type 2G
TMC6 Epidermodysplasia verruciformis
TMC8 Epidermodysplasia verruciformis
TNFRSF13B Immunoglobulin A deficiency 2
Common variable immunodeficiency 2
TP53 Li-Fraumeni syndrome
Choroid plexus papilloma
Ependymoma, intracranial
Osteogenic sarcoma
Breast cancer, familial
Hepatoblastoma
Non-Hodgkin lymphoma
Adrenocortical carcinoma
Colorectal cancer
TRPV3 Olmsted syndrome
Palmoplantar keratoderma, nonepidermolytic focal 2
TSEN54 Pontocerebellar hypoplasia, type 2A
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 5
TUBG1 Cortical dysplasia, complex, with other brain malformations 4
UNC13D Hemophagocytic lymphohistiocytosis, familial 3
VPS53 Pontocerebellar hypoplasia, type 2E
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
WRAP53 Dyskeratosis congenita, autosomal recessive 3
ZMYND15 Spermatogenic failure 14
ZNF750 Seborrhea-like dermatitis with psoriasiform elements

Genes at HGMD

Summary

Number of Variants: 3813
Number of Genes: 585

Export to: CSV
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 fpd-aix-mes-312-12 17 rs11658607
dbSNP Clinvar 		39240426 117620.0 G A VQSRTrancheSNP99.90to100.00 1/1 509 None None None None None None None None None None

LRRC37A2
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 fpd-aix-mes-312-12 17 rs1969205
dbSNP Clinvar 		44626660 111833.0 C G VQSRTrancheSNP99.90to100.00 0/1 315 NON_SYNONYMOUS_CODING MODERATE None 0.93610 0.93610 0.06047 0.55 0.08 None None None None None None LRRC37A2|0.000531843|98.27%,ARL17A|0.01517681|77.02%

RP11-1407O15.2
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 fpd-aix-mes-312-12 17 . 36358847 105927.0 T A PASS 1/1 352 NON_SYNONYMOUS_CODING MODERATE None 0.82947 1.00 0.00 None None None None None None None
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 fpd-aix-mes-312-12 17 rs111391809
dbSNP Clinvar 		19091317 99672.0 A G SnpCluster;VQSRTrancheSNP99.90to100.00 0/1 534 None None None None None None None None None None
View fpd-aix-mes-312-12 17 rs9285743
dbSNP Clinvar 		21544470 98828.0 A G SnpCluster;VQSRTrancheSNP99.90to100.00 0/1 675 None None None 0.00020 0.00020 None None None None None None None
View fpd-aix-mes-312-12 17 rs9285742
dbSNP Clinvar 		21544462 96744.0 G A SnpCluster 0/1 655 None None None None None None None None None None

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 fpd-aix-mes-312-12 17 rs58654829
dbSNP Clinvar 		35696804 89898.0 G A PASS 1/1 289 SYNONYMOUS_CODING LOW None 0.58546 0.58550 0.34776 None None None None None None ACACA|0.94269074|2.39%

ULK2
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 fpd-aix-mes-312-12 17 rs157397
dbSNP Clinvar 		19729495 83863.0 T C PASS 1/1 311 SYNONYMOUS_CODING LOW None 0.79413 0.79410 0.09057 None None None None None None ULK2|0.21721601|34.7%

KRTAP4-7
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 fpd-aix-mes-312-12 17 rs11655310
dbSNP Clinvar 		39240504 76099.0 A G VQSRTrancheSNP99.90to100.00 1/1 285 NON_SYNONYMOUS_CODING MODERATE None 0.62181 0.62180 1.00 0.00 None None None None None None KRTAP4-7|0.005884004|84.72%

NCOR1
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 fpd-aix-mes-312-12 17 rs199892481
dbSNP Clinvar 		16068383 75578.0 G A VQSRTrancheSNP99.90to100.00 0/1 376 SYNONYMOUS_CODING LOW None None None None None None None NCOR1|0.942283614|2.42%

RP11-51L5.7
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 fpd-aix-mes-312-12 17 rs10163525
dbSNP Clinvar 		60360238 73661.0 A G PASS 1/1 208 NON_SYNONYMOUS_CODING MODERATE None 0.78814 0.78810 1.00 0.00 None None None None None None None

NCOR1
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 fpd-aix-mes-312-12 17 rs200020868
dbSNP Clinvar 		16068377 73328.0 C G VQSRTrancheSNP99.90to100.00 0/1 362 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.52 None None None None None None NCOR1|0.942283614|2.42%
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 fpd-aix-mes-312-12 17 rs1049750
dbSNP Clinvar 		34431287 69430.0 G T PASS 1/1 334 None None None 0.95567 0.95570 None None None None None None CCL4|0.14302779|43.99%
View fpd-aix-mes-312-12 17 rs3967754
dbSNP Clinvar 		39406447 67220.0 A G PASS 1/1 324 None None None 0.62340 0.62340 None None None None None None KRTAP9-4|0.00139083|93.39%
View fpd-aix-mes-312-12 17 rs62069132
dbSNP Clinvar 		60360261 66184.0 T C PASS 1/1 179 None None None 0.78554 0.78550 None None None None None None None

NCOR1
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 fpd-aix-mes-312-12 17 rs150910818
dbSNP Clinvar 		16068396 65431.0 G A VQSRTrancheSNP99.90to100.00 0/1 412 NON_SYNONYMOUS_CODING MODERATE None 0.36 0.01 None None None None None None NCOR1|0.942283614|2.42%

ULK2
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 fpd-aix-mes-312-12 17 rs150122
dbSNP Clinvar 		19713740 65046.0 C T PASS 1/1 298 NON_SYNONYMOUS_CODING MODERATE None 0.88658 0.88660 0.03375 0.40 0.00 None None None None None None ULK2|0.21721601|34.7%
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 fpd-aix-mes-312-12 17 rs11871636
dbSNP Clinvar 		41154817 64841.0 A C PASS 1/1 260 None None None 0.74900 0.74900 0.24550 None None None None None None RPL27|0.340100467|24.85%
View fpd-aix-mes-312-12 17 rs4057758
dbSNP Clinvar 		39406589 62061.0 A G SnpCluster 1/1 187 None None None 0.95527 0.95530 None None None None None None KRTAP9-4|0.00139083|93.39%
View fpd-aix-mes-312-12 17 rs2270179
dbSNP Clinvar 		39406567 60917.0 C A PASS 1/1 203 None None None 0.72005 0.72000 None None None None None None KRTAP9-4|0.00139083|93.39%
View fpd-aix-mes-312-12 17 rs4968419
dbSNP Clinvar 		60344525 60722.0 G A PASS 0/1 488 None None None 0.31390 0.31390 None None None None None None None

CDC27
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 fpd-aix-mes-312-12 17 rs3208659
dbSNP Clinvar 		45234343 60159.0 T G VQSRTrancheSNP99.90to100.00 0/1 337 NON_SYNONYMOUS_CODING MODERATE None 0.16 0.52 None None None None None None CDC27|0.658499283|9.78%
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 fpd-aix-mes-312-12 17 rs28393568
dbSNP Clinvar 		20420551 59361.0 A G PASS 0/1 255 None None None None None None None None None None
View fpd-aix-mes-312-12 17 rs2854152
dbSNP Clinvar 		61986027 57841.0 A G PASS 1/1 322 None None None 0.61841 0.61840 None None None None None None None

KRTAP9-4
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 fpd-aix-mes-312-12 17 rs2191379
dbSNP Clinvar 		39406409 57488.0 C A PASS 1/1 286 NON_SYNONYMOUS_CODING MODERATE None 0.67592 0.67590 0.34492 0.05 0.09 None None None None None None KRTAP9-4|0.00139083|93.39%
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 fpd-aix-mes-312-12 17 rs645134
dbSNP Clinvar 		16735618 55246.0 G A PASS 1/1 227 None None None 0.92772 0.92770 None None None None None None None

CDC27
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 fpd-aix-mes-312-12 17 rs78493795
dbSNP Clinvar 		45234420 54842.0 T G SnpCluster;VQSRTrancheSNP99.90to100.00 0/1 276 NON_SYNONYMOUS_CODING MODERATE None 0.39 0.00 None None None None None None CDC27|0.658499283|9.78%
View fpd-aix-mes-312-12 17 rs75184508
dbSNP Clinvar 		45234403 54458.0 T G SnpCluster 0/1 340 NON_SYNONYMOUS_CODING MODERATE None 0.64 0.00 None None None None None None CDC27|0.658499283|9.78%

NCOR1
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 fpd-aix-mes-312-12 17 rs76375524
dbSNP Clinvar 		16068362 53940.0 C T VQSRTrancheSNP99.90to100.00 0/1 336 SYNONYMOUS_CODING LOW None None None None None None None NCOR1|0.942283614|2.42%
View fpd-aix-mes-312-12 17 rs78230791
dbSNP Clinvar 		16068343 53733.0 G A PASS 0/1 278 STOP_GAINED HIGH None None None None None None None NCOR1|0.942283614|2.42%
View fpd-aix-mes-312-12 17 rs76780359
dbSNP Clinvar 		16068340 52205.0 C T VQSRTrancheSNP99.90to100.00 0/1 265 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.90 None None None None None None NCOR1|0.942283614|2.42%

CDC27
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 fpd-aix-mes-312-12 17 rs62077264
dbSNP Clinvar 		45234360 51880.0 A C VQSRTrancheSNP99.90to100.00 0/1 350 STOP_GAINED HIGH None None None None None None None CDC27|0.658499283|9.78%
View fpd-aix-mes-312-12 17 rs74925848
dbSNP Clinvar 		45234404 50662.0 T G SnpCluster 0/1 336 SYNONYMOUS_CODING LOW None None None None None None None CDC27|0.658499283|9.78%
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 fpd-aix-mes-312-12 17 rs1689965
dbSNP Clinvar 		5084763 50359.0 G A PASS 1/1 209 None None None 0.97444 0.97440 None None None None None None ZNF594|0.00200974|90.98%

B4GALNT2
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 fpd-aix-mes-312-12 17 rs7207842
dbSNP Clinvar 		47210429 50259.0 A G PASS 1/1 230 SYNONYMOUS_CODING LOW None 0.74221 0.74220 0.19479 None None None None None None B4GALNT2|0.038585126|66.26%

CDC27
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 fpd-aix-mes-312-12 17 rs74628496
dbSNP Clinvar 		45234416 48816.0 A G SnpCluster;VQSRTrancheSNP99.90to100.00 0/1 296 SYNONYMOUS_CODING LOW None None None None None None None CDC27|0.658499283|9.78%

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 fpd-aix-mes-312-12 17 rs7212506
dbSNP Clinvar 		67101718 48041.0 C T PASS 0/1 337 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%

TVP23B
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 fpd-aix-mes-312-12 17 rs61075345
dbSNP Clinvar 		18694277 48027.0 G A PASS 1/1 201 NON_SYNONYMOUS_CODING MODERATE None 0.84305 0.84310 0.18368 0.88 0.00 None None None None None None TVP23B|0.042636749|64.91%
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 fpd-aix-mes-312-12 17 rs820256
dbSNP Clinvar 		73590830 47914.0 T G PASS 1/1 176 None None None 0.90535 0.90540 None None None None None None MYO15B|0.030988884|68.97%
View fpd-aix-mes-312-12 17 rs2621711
dbSNP Clinvar 		16725570 46735.0 G A PASS 1/1 117 None None None 0.93311 0.93310 None None None None None None None
View fpd-aix-mes-312-12 17 rs4510053
dbSNP Clinvar 		74557681 46277.0 A C PASS 1/1 180 None None None 0.99161 0.99160 0.00698 None None None None None None None
View fpd-aix-mes-312-12 17 rs613517
dbSNP Clinvar 		16736080 45401.0 G A PASS 1/1 106 None None None None None None None None None None

RP11-51L5.7
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 fpd-aix-mes-312-12 17 rs4968502
dbSNP Clinvar 		60351457 44638.0 G A PASS 0/1 372 SYNONYMOUS_CODING LOW None 0.31470 0.31470 None None None None None None None
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 fpd-aix-mes-312-12 17 rs77440273
dbSNP Clinvar 		21562296 44362.0 A G VQSRTrancheSNP99.90to100.00 0/1 172 None None None None None None None None None None
View fpd-aix-mes-312-12 17 rs758223258
dbSNP Clinvar 		46973140 43985.0 G C,* SnpCluster 2/2 190 None None None None None None None None None ATP5G1|0.312908134|26.63%
View fpd-aix-mes-312-12 17 rs2291392
dbSNP Clinvar 		80585033 43813.0 T A PASS 1/1 158 None None None 0.86082 0.86080 0.17669 None None None None None None FOXK2|0.099483124|51.26%,WDR45B|0.105543576|50.13%
View fpd-aix-mes-312-12 17 rs9908959
dbSNP Clinvar 		47785064 43645.0 C A PASS 1/1 173 None None None 0.99740 0.99740 0.00343 None None None None None None SLC35B1|0.621398997|11.06%
View fpd-aix-mes-312-12 17 rs1964698
dbSNP Clinvar 		36243630 43452.0 C A PASS 0/1 237 None None None 0.57708 0.57710 None None None None None None None

CCDC57
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 fpd-aix-mes-312-12 17 rs8072670
dbSNP Clinvar 		80159566 43024.0 T C PASS 1/1 157 SYNONYMOUS_CODING LOW None 0.82348 0.82350 0.25043 None None None None None None CCDC57|0.000772577|96.85%

TVP23B
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 fpd-aix-mes-312-12 17 rs8080471
dbSNP Clinvar 		18702220 42796.0 T C PASS 1/1 183 SYNONYMOUS_CODING LOW None 0.67752 0.67750 0.32547 None None None None None None TVP23B|0.042636749|64.91%
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 fpd-aix-mes-312-12 17 rs5010940
dbSNP Clinvar 		10258155 41985.0 T C PASS 1/1 153 None None None 0.00439 0.00439 None None None None None None MYH13|0.061120248|59.55%

BRIP1
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 fpd-aix-mes-312-12 17 rs4986765
dbSNP Clinvar 		59763465 41942.0 T C PASS 1/1 217 SYNONYMOUS_CODING LOW None 0.81510 0.81510 0.26572 None None None None None None BRIP1|0.463785702|17.47%
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 fpd-aix-mes-312-12 17 rs682770
dbSNP Clinvar 		16746358 41374.0 G A PASS 1/1 129 None None None 0.79014 0.79010 None None None None None None None
View fpd-aix-mes-312-12 17 rs3867174
dbSNP Clinvar 		5036849 40791.0 T C PASS 0/1 192 None None None 0.59086 0.59090 0.21455 None None None None None None USP6|0.033697687|67.88%
View fpd-aix-mes-312-12 17 rs2304447
dbSNP Clinvar 		5048207 40619.0 A G PASS 0/1 231 None None None 0.59105 0.59110 0.22105 None None None None None None USP6|0.033697687|67.88%

SLC16A3
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 fpd-aix-mes-312-12 17 rs9303026
dbSNP Clinvar 		80195582 39897.0 T C PASS 1/1 98 SYNONYMOUS_CODING LOW None 0.99920 0.99920 0.00054 None None None None None None SLC16A3|0.065593868|58.46%
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 fpd-aix-mes-312-12 17 rs7405506
dbSNP Clinvar 		65980261 39625.0 G A PASS 1/1 229 None None None 0.92732 0.92730 None None None None None None BPTF|0.199279409|36.79%
View fpd-aix-mes-312-12 17 rs2926778
dbSNP Clinvar 		76116153 39612.0 T C PASS 0/1 465 None None None 0.47883 0.47880 None None None None None None TMC6|0.012286436|79.04%
View fpd-aix-mes-312-12 17 rs1529844
dbSNP Clinvar 		73328773 39305.0 T C PASS 1/1 146 None None None 0.99201 0.99200 0.01192 None None None None None None GRB2|0.997334494|0.63%
View fpd-aix-mes-312-12 17 rs9285744
dbSNP Clinvar 		21544587 39154.0 A G PASS 0/1 400 None None None 0.00180 0.00180 None None None None None None None
View fpd-aix-mes-312-12 17 rs1453559
dbSNP Clinvar 		38020419 39126.0 T C PASS 0/1 192 None None None 0.45707 0.45710 0.47277 None None None None None None IKZF3|0.378393147|22.16%

C17orf80
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 fpd-aix-mes-312-12 17 rs904384
dbSNP Clinvar 		71232804 39121.0 C A PASS 1/1 104 NON_SYNONYMOUS_CODING MODERATE None 0.99042 0.99040 0.00784 1.00 0.00 None None None None None None FAM104A|0.086418292|53.87%,C17orf80|0.001436401|93.13%

KRTAP4-11
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 fpd-aix-mes-312-12 17 rs9897031
dbSNP Clinvar 		39274518 39112.0 C T PASS 1/1 160 NON_SYNONYMOUS_CODING MODERATE None 0.68770 0.68770 0.21463 1.00 0.00 None None None None None None KRTAP4-11|0.005077297|85.71%
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 fpd-aix-mes-312-12 17 rs6503775
dbSNP Clinvar 		54925262 39055.0 G T PASS 1/1 154 None None None 0.84245 0.84250 0.13755 None None None None None None DGKE|0.140864387|44.28%

CDC27
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 fpd-aix-mes-312-12 17 rs78072949
dbSNP Clinvar 		45234430 38652.0 A G VQSRTrancheSNP99.90to100.00 0/1 255 NON_SYNONYMOUS_CODING MODERATE None 0.16 0.00 None None None None None None CDC27|0.658499283|9.78%

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 fpd-aix-mes-312-12 17 rs1558084
dbSNP Clinvar 		42852610 38587.0 T C PASS 0/1 118 SYNONYMOUS_CODING LOW None 0.90495 0.90500 0.10518 None None None None None None ADAM11|0.131633893|45.66%
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 fpd-aix-mes-312-12 17 rs2307138
dbSNP Clinvar 		5066305 38462.0 A T PASS 0/1 251 None None None 0.57728 0.57730 0.22897 None None None None None None USP6|0.033697687|67.88%
View fpd-aix-mes-312-12 17 rs205107
dbSNP Clinvar 		19678475 38309.0 G A PASS 1/1 126 None None None 0.89517 0.89520 None None None None None None ULK2|0.21721601|34.7%
View fpd-aix-mes-312-12 17 rs4969397
dbSNP Clinvar 		79108141 38159.0 A G PASS 0/1 256 None None None 0.85883 0.85880 None None None None None None AATK|0.00450864|86.39%

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 fpd-aix-mes-312-12 17 rs1860447
dbSNP Clinvar 		67031457 38124.0 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%
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 fpd-aix-mes-312-12 17 rs35566458
dbSNP Clinvar 		66264542 37929.0 A T PASS 0/1 560 None None None 0.17133 0.17130 None None None None None None ARSG|0.038924858|66.13%,SLC16A6|0.030088696|69.36%
View fpd-aix-mes-312-12 17 rs4795207
dbSNP Clinvar 		35956263 37920.0 T C PASS 1/1 170 None None None 0.99181 0.99180 0.01015 None None None None None None SYNRG|0.309565847|26.86%
View fpd-aix-mes-312-12 17 rs3853643
dbSNP Clinvar 		4686340 37912.0 T G PASS 1/1 85 None None None 0.98463 0.98460 0.01607 None None None None None None TM4SF5|0.019893464|74.24%
View fpd-aix-mes-312-12 17 rs3853644
dbSNP Clinvar 		4686341 37878.0 T G PASS 1/1 85 None None None 0.98463 0.98460 0.01599 None None None None None None TM4SF5|0.019893464|74.24%
View fpd-aix-mes-312-12 17 rs578828
dbSNP Clinvar 		18301235 37630.0 T C PASS 0/1 439 None None None None None None None None None None

KRT19
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 fpd-aix-mes-312-12 17 rs4602
dbSNP Clinvar 		39684321 37594.0 G C PASS 1/1 148 NON_SYNONYMOUS_CODING MODERATE None 0.74800 0.74800 0.36808 1.00 0.00 None None None None None None KRT19|0.230673274|33.31%

DGKE
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 fpd-aix-mes-312-12 17 rs3760158
dbSNP Clinvar 		54921494 37428.0 A C PASS 1/1 189 SYNONYMOUS_CODING LOW None 0.69828 0.69830 0.30309 None None None None None None DGKE|0.140864387|44.28%

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 fpd-aix-mes-312-12 17 rs4968849
dbSNP Clinvar 		67178316 36781.0 A G PASS 1/1 237 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%
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 fpd-aix-mes-312-12 17 rs205108
dbSNP Clinvar 		19678308 36697.0 A C PASS 1/1 137 None None None 0.75260 0.75260 None None None None None None ULK2|0.21721601|34.7%
View fpd-aix-mes-312-12 17 rs1471197
dbSNP Clinvar 		80878389 36618.0 A G PASS 1/1 108 None None None 0.99481 0.99480 0.00587 None None None None None None TBCD|0.013900212|77.94%

CDC27
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 fpd-aix-mes-312-12 17 rs75731161
dbSNP Clinvar 		45214582 36411.0 A G PASS 0/1 160 SYNONYMOUS_CODING LOW None None None None None None None CDC27|0.658499283|9.78%

KRT34
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 fpd-aix-mes-312-12 17 rs2239710
dbSNP Clinvar 		39535859 36050.0 A G PASS 1/1 207 NON_SYNONYMOUS_CODING MODERATE None 0.74461 0.74460 0.26042 1.00 0.00 None None None None None None KRT34|0.187217345|38.16%
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 fpd-aix-mes-312-12 17 rs1860448
dbSNP Clinvar 		67031369 36036.0 T C PASS 1/1 171 None None None 0.94888 0.94890 0.05644 None None None None None None ABCA9|0.017284198|75.69%
View fpd-aix-mes-312-12 17 rs2688024
dbSNP Clinvar 		16721538 35903.0 T C PASS 1/1 115 None None None 0.93750 0.93750 None None None None None None None

NT5C3B
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 fpd-aix-mes-312-12 17 rs4796712
dbSNP Clinvar 		39987130 35840.0 T C PASS 1/1 168 SYNONYMOUS_CODING LOW None 0.91733 0.91730 0.11087 None None None None None None NT5C3B|0.071842185|57.03%
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 fpd-aix-mes-312-12 17 rs9894501
dbSNP Clinvar 		48821201 35409.0 T C PASS 1/1 187 None None None 0.66933 0.66930 0.33223 None None None None None None LUC7L3|0.836373858|4.93%
View fpd-aix-mes-312-12 17 rs2586485
dbSNP Clinvar 		48258321 35339.0 C T PASS 1/1 131 None None None 0.78135 0.78130 None None None None None None None
View fpd-aix-mes-312-12 17 rs72846673
dbSNP Clinvar 		21320555 35045.0 C T PASS 0/1 146 None None None None None None None None None KCNJ12|0.437556296|18.82%
View fpd-aix-mes-312-12 17 rs72846674
dbSNP Clinvar 		21320556 35039.0 A G PASS 0/1 146 None None None None None None None None None KCNJ12|0.437556296|18.82%

KRT14
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 fpd-aix-mes-312-12 17 rs11551759
dbSNP Clinvar 		39743081 34989.0 G A PASS 1/1 238 SYNONYMOUS_CODING LOW None 0.68051 0.68050 0.44974 None None None None None None KRT14|0.6870623|8.91%

CDC27
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 fpd-aix-mes-312-12 17 rs11570544
dbSNP Clinvar 		45214631 34984.0 G A SnpCluster 0/1 148 SYNONYMOUS_CODING LOW None 0.01418 0.01418 None None None None None None CDC27|0.658499283|9.78%
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 fpd-aix-mes-312-12 17 rs9892311
dbSNP Clinvar 		73497794 34957.0 T C PASS 1/1 148 None None None 0.81530 0.81530 0.07016 None None None None None None CASKIN2|0.097795346|51.56%

PEMT
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 fpd-aix-mes-312-12 17 rs7946
dbSNP Clinvar 		17409560 34925.0 C T PASS 1/1 151 NON_SYNONYMOUS_CODING MODERATE None 0.42452 0.42450 0.38453 0.03 0.54 None None None None None None PEMT|0.024572101|72%

MYH3
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 fpd-aix-mes-312-12 17 rs2285469
dbSNP Clinvar 		10543463 34869.0 T C PASS 1/1 253 SYNONYMOUS_CODING LOW None 0.46645 0.46650 0.41796 None None None None None None MYH3|0.17766559|39.35%
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 fpd-aix-mes-312-12 17 rs7223663
dbSNP Clinvar 		1587639 34571.0 T C PASS 1/1 255 None None None 0.70947 0.70950 0.32895 None None None None None None PRPF8|0.837529945|4.91%

TBC1D3H
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 fpd-aix-mes-312-12 17 rs62079009
dbSNP Clinvar 		34746953 34507.0 A C PASS 1/1 131 SYNONYMOUS_CODING LOW None None None None None None None TBC1D3C|0.001313765|93.79%,TBC1D3H|0.001438095|93.12%,TBC1D3G|0.001322308|93.75%

SMG8
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 fpd-aix-mes-312-12 17 rs6503905
dbSNP Clinvar 		57287454 34306.0 A G PASS 1/1 173 SYNONYMOUS_CODING LOW None 0.66414 0.66410 0.27918 None None None None None None SMG8|0.383109611|21.85%
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 fpd-aix-mes-312-12 17 rs2285468
dbSNP Clinvar 		10546130 34264.0 T G PASS 1/1 193 None None None 0.52596 0.52600 None None None None None None MYH3|0.17766559|39.35%
View fpd-aix-mes-312-12 17 rs110675
dbSNP Clinvar 		15578852 34108.0 G A PASS 1/1 176 None None None 0.84046 0.84050 None None None None None None TRIM16|0.020977671|73.69%
View fpd-aix-mes-312-12 17 rs2465427
dbSNP Clinvar 		60766804 34097.0 C T PASS 1/1 105 None None None 0.79952 0.79950 None None None None None None MRC2|0.148810988|43.17%