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+ Genes 418

Genes:
A3GALT2, AC005609.1, AC017104.2, AC062017.1, ACACB, ACAT1, ACLY, ACTN3, ACTN4, ACTR8, ACVR1, ADA, ADAM8, ADAMTS13, ADCK3, ADCY10, ADH1C, AK9, ALDH3B1, ALDH4A1, ALKBH3, ALOX15B, ANAPC1, ANGPT2, ANKDD1B, ANKRD30BL, ANKRD36C, AOAH, APC, ARSB, ARSD, ASS1, ATP6V1B1, ATP8B3, BACH2, BARD1, BBOX1, BRD7, BTK, C10orf113, C12orf40, C12orf60, C17orf100, C21orf49, C5orf20, C9orf89, CA2, CA8, CAMK2B, CASP12, CBLC, CC2D2B, CCDC8, CD180, CD200R1L, CD207, CDC27, CFTR, CHI3L1, CHI3L2, CHIA, CIRH1A, CKB, CLDN16, CLECL1, CNOT1, COL26A1, COMT, CPN2, CPSF6, CREB3L1, CRYBA4, CRYM, CRYZ, CTBP2, CWC15, CYFIP2, CYP11B2, CYP2F1, CYP4B1, CYTH3, DCAF7, DEFB126, DHRS4, DHRS4L2, DIXDC1, DLG1, DNAJC11, DOC2A, DPP6, DPYSL2, DUSP12, EBF1, EBLN2, ECHDC3, EFCAB13, EGFR, EI24, EIF4A3, EMG1, ENPP4, EP300, EPDR1, EPHA2, EPHB3, EPHX2, ERAP1, ERCC1, ERN1, ESRRA, FAM104B, FAM187B, FAM228B, FAM96A, FCRL6, FDFT1, FGFR2, FLG2, FMO2, FMO6P, FOLH1, FTHL17, FUT6, GAPDH, GBA3, GDPD4, GIMAP2, GLA, GPATCH4, GRIN3B, GUSB, GXYLT1, GZMB, HAAO, HARS, HBB, HGF, HIBCH, HK2, HLA-DQB1, HMGCS1, HMMR, HPS4, HSD17B14, HSH2D, HSPA2, HTR3E, IDO2, IFNA10, IGFBP1, IGHV3OR16-13, IGKV1D-13, IL17RB, IL22RA1, IL34, INMT, INPP5E, ISG15, ITIH5, ITPA, JAG1, JMJD1C, JSRP1, KDM2A, KMT2B, KPNA2, KRAS, KRBA1, KRT15, KRT24, KRTAP1-1, KRTAP13-2, KRTAP19-6, LAIR1, LCE1D, LCN10, LGALS8, LGR5, LIG4, LINC00955, LMAN1, LRP5, LRP6, LRRC4, LUC7L2, MAGEB16, MAGEE2, MAP2K3, MAP3K8, MAPK12, MASP1, MAT1A, MB21D1, MEFV, MEP1B, METTL21C, METTL8, MINA, MIOX, MMP10, MMP16, MMP28, MOB3C, MROH2B, MTCH2, MUC12, MUC19, MUC3A, MUC6, MUS81, MYOM3, NACA2, NBPF9, NCAM1, NCF2, NCOR1, NDUFV3, NEK2, NET1, NFATC2, NLRC3, NLRP8, NLRX1, NME3, NOP16, NOTCH2, NPPA, NPRL3, NUP107, NXF1, OAS2, OASL, OAT, OPLAH, OR10AC1P, OR10D3, OR10X1, OR11G2, OR11H7, OR13C2, OR13C5, OR1B1, OR1S1, OR2AP1, OR2B11, OR2L8, OR2T35, OR2T4, OR4C16, OR4C3, OR4C5, OR4L1, OR4X1, OR51F1, OR51Q1, OR52B4, OR52E8, OR5AR1, OR5K3, OR6Q1, OR8K1, OXCT1, P2RX5, PABPC1, PABPC3, PADI2, PADI4, PAH, PCDHGA8, PCK1, PDCD6, PDE11A, PDE4B, PDE4DIP, PDK2, PDK4, PFKP, PGPEP1L, PKD1L2, PLA2G2C, PLCB3, PLEKHA2, PNLIPRP2, PNPT1, PPIC, PPP5C, PRAMEF1, PRIM1, PRIM2, PRKCD, PRKDC, PRMT6, PRSS48, PSAT1, PSG7, PTBP1, PTCHD3, PTGR2, PTPN6, RAB8A, RAC2, RBBP4, RBMX, RHOU, RIPK1, RNASEH2B, RNF133, RNF31, RNF8, ROR2, RP11-1396O13.13, RRM1, RTN4IP1, SAT2, SCAMP1, SCAPER, SEC14L3, SEC14L4, SEC23A, SENP3, SERPINB11, SERPINB2, SERPINB5, SFPQ, SIGLEC12, SIRT3, SIRT5, SKA3, SLC22A10, SLC25A5, SLC35G6, SLC37A4, SLC41A3, SLC46A1, SLC6A18, SLC9B1, SLC9B1P1, SLFN12L, SND1, SNX9, SON, SORL1, SPEN, SPTBN1, SRL, SRM, SRSF8, SSTR3, STAMBP, STK10, STK17B, SUFU, SULT1C3, SULT2A1, TAAR9, TAS2R19, TCEAL6, TEX13A, TGIF1, TGM2, TGOLN2, THEM5, TIGD6, TIRAP, TLR3, TMPRSS11A, TNFAIP3, TNFRSF6B, TNFSF10, TNFSF13B, TNFSF15, TP73, TPH2, TPTE, TRAJ36, TRBV10-1, TRBV10-2, TRBV5-5, TRPV2, TSGA10IP, TSPAN10, TTC38, TTC4, TUBB8P7, TYMS, UBE2NL, UBE2R2, UGT3A2, UNC50, UNK, UPP2, USB1, USH1C, USP2, USP29, VSIG10L, VWF, WAPAL, WARS, WDR64, XDH, XYLB, ZACN, ZADH2, ZAN, ZFYVE19, ZNF117, ZNF233, ZNF443, ZNF480, ZNF516, ZNF626, ZNF681, ZNF717, ZNF726, ZNF77, ZNF80, ZNF852,

+ Genes associated with diseases 105

Genes at Omim

ACAT1, ACTN3, ACTN4, ACVR1, ADA, ADAMTS13, ADCK3, ADCY10, ADH1C, ALDH4A1, APC, ARSB, ASS1, BARD1, BTK, CA2, CA8, CAMK2B, CASP12, CCDC8, CD207, CFTR, CHI3L1, CLDN16, COMT, CREB3L1, CRYBA4, CRYM, CYFIP2, CYP11B2, DPP6, EGFR, EMG1, EP300, EPHA2, EPHX2, ERCC1, FDFT1, FGFR2, FLG2, FUT6, GLA, GUSB, HAAO, HARS, HBB, HGF, HIBCH, HLA-DQB1, HMMR, HPS4, INPP5E, ISG15, ITPA, JAG1, KMT2B, KRAS, LIG4, LMAN1, LRP5, LRP6, MAP3K8, MASP1, MAT1A, MEFV, NCF2, NEK2, NOTCH2, NPPA, NPRL3, NUP107, OAT, OPLAH, OXCT1, PADI4, PAH, PCK1, PDE11A, PNPT1, PRKCD, PRKDC, PSAT1, RAC2, RBMX, RIPK1, RNASEH2B, ROR2, RTN4IP1, SCAPER, SEC23A, SLC37A4, SLC46A1, SON, STAMBP, SUFU, TGIF1, TIRAP, TLR3, TNFAIP3, TPH2, USB1, USH1C, VWF, WARS, XDH,
ACAT1 Alpha-methylacetoacetic aciduria, 203750 (3)
ACTN3 [Alpha-actinin-3 deficiency], 617749 (3)
[Sprinting performance], 617749 (3)
ACTN4 Glomerulosclerosis, focal segmental, 1, 603278 (3)
ACVR1 Fibrodysplasia ossificans progressiva, 135100 (3)
ADA Adenosine deaminase deficiency, partial, 102700 (3)
Severe combined immunodeficiency due to ADA deficiency, 102700 (3)
ADAMTS13 Thrombotic thrombocytopenic purpura, familial, 274150 (3)
ADCK3 Coenzyme Q10 deficiency, primary, 4, 612016 (3)
ADCY10 {Hypercalciuria, absorptive, susceptibility to}, 143870 (3)
ADH1C {Parkinson disease, susceptibility to}, 168600 (3)
{Alcohol dependence, protection against}, 103780 (3)
ALDH4A1 Hyperprolinemia, type II, 239510 (3)
APC Adenoma, periampullary, somatic (3)
Adenomatous polyposis coli, 175100 (3)
Gardner syndrome, 175100 (3)
Gastric cancer, somatic, 613659 (3)
Brain tumor-polyposis syndrome 2, 175100 (3)
Hepatoblastoma, somatic, 114550 (3)
Colorectal cancer, somatic, 114500 (3)
Desmoid disease, hereditary, 135290 (3)
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3)
ASS1 Citrullinemia, 215700 (3)
BARD1 {Breast cancer, susceptibility to}, 114480 (3)
BTK Agammaglobulinemia, X-linked 1, 300755 (3)
Isolated growth hormone deficiency, type III, with agammaglobulinemia, 307200 (3)
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3)
CA8 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 (3)
CAMK2B Mental retardation, autosomal dominant 54, 617799 (3)
CASP12 {Sepsis, susceptibility to} (3)
CCDC8 3-M syndrome 3, 614205 (3)
CD207 [?Birbeck granule deficiency], 613393 (3)
CFTR {Hypertrypsinemia, neonatal} (3)
Congenital bilateral absence of vas deferens, 277180 (3)
Cystic fibrosis, 219700 (3)
{Pancreatitis, hereditary}, 167800 (3)
Sweat chloride elevation without CF (3)
{Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3)
CHI3L1 {Schizophrenia, susceptibility to}, 181500 (3)
{Asthma-related traits, susceptibility to, 7}, 611960 (3)
CLDN16 Hypomagnesemia 3, renal, 248250 (3)
COMT {Panic disorder, susceptibility to}, 167870 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
CREB3L1 Osteogenesis imperfecta, type XVI, 616229 (3)
CRYBA4 Cataract 23, 610425 (3)
CRYM Deafness, autosomal dominant 40, 616357 (3)
CYFIP2 Epileptic encephalopathy, early infantile, 65, 618008 (3)
CYP11B2 Aldosterone to renin ratio raised (3)
{Low renin hypertension, susceptibility to} (3)
Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3)
Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3)
DPP6 {Ventricular fibrillation, paroxysmal familial, 2}, 612956 (3)
Mental retardation, autosomal dominant 33, 616311 (3)
EGFR Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3)
{Nonsmall cell lung cancer, susceptibility to}, 211980 (3)
?Inflammatory skin and bowel disease, neonatal, 2, 616069 (3)
Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3)
EMG1 Bowen-Conradi syndrome, 211180 (3)
EP300 Colorectal cancer, somatic, 114500 (3)
Menke-Hennekam syndrome 2, 618333 (3)
Rubinstein-Taybi syndrome 2, 613684 (3)
EPHA2 Cataract 6, multiple types, 116600 (3)
EPHX2 {Hypercholesterolemia, familial, due to LDLR defect, modifier of}, 143890 (3)
ERCC1 Cerebrooculofacioskeletal syndrome 4, 610758 (3)
FDFT1 Squalene synthase deficiency, 618156 (3)
FGFR2 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 (3)
Apert syndrome, 101200 (3)
Gastric cancer, somatic, 613659 (3)
Beare-Stevenson cutis gyrata syndrome, 123790 (3)
Bent bone dysplasia syndrome, 614592 (3)
Craniofacial-skeletal-dermatologic dysplasia, 101600 (3)
Craniosynostosis, nonspecific (3)
Crouzon syndrome, 123500 (3)
Jackson-Weiss syndrome, 123150 (3)
LADD syndrome, 149730 (3)
Pfeiffer syndrome, 101600 (3)
Saethre-Chotzen syndrome, 101400 (3)
Scaphocephaly and Axenfeld-Rieger anomaly (3)
Scaphocephaly, maxillary retrusion, and mental retardation, 609579 (3)
FLG2 Peeling skin syndrome 6, 618084 (3)
FUT6 Fucosyltransferase 6 deficiency, 613852 (3)
GLA Fabry disease, 301500 (3)
Fabry disease, cardiac variant, 301500 (3)
GUSB Mucopolysaccharidosis VII, 253220 (3)
HAAO Vertebral, cardiac, renal, and limb defects syndrome 1, 617660 (3)
HARS Charcot-Marie-Tooth disease, axonal, type 2W, 616625 (3)
Usher syndrome type 3B, 614504 (3)
HBB Heinz body anemia, 140700 (3)
Hereditary persistence of fetal hemoglobin, 141749 (3)
{Malaria, resistance to}, 611162 (3)
Delta-beta thalassemia, 141749 (3)
Erythrocytosis 6, 617980 (3)
Methmoglobinemia, beta type, 617971 (3)
Sickle cell anemia, 603903 (3)
Thalassemia, beta, 613985 (3)
Thalassemia-beta, dominant inclusion-body, 603902 (3)
HGF Deafness, autosomal recessive 39, 608265 (3)
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)
HLA-DQB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Celiac disease, susceptibility to}, 212750 (3)
{Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3)
HMMR {Breast cancer, susceptibility to}, 114480 (3)
HPS4 Hermansky-Pudlak syndrome 4, 614073 (3)
INPP5E Joubert syndrome 1, 213300 (3)
Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3)
ISG15 Immunodeficiency 38, 616126 (3)
ITPA Epileptic encephalopathy, early infantile, 35, 616647 (3)
[Inosine triphosphatase deficiency], 613850 (3)
JAG1 Alagille syndrome 1, 118450 (3)
?Deafness, congenital heart defects, and posterior embryotoxon, 617992 (3)
Tetralogy of Fallot, 187500 (3)
KMT2B Dystonia 28, childhood-onset, 617284 (3)
KRAS Arteriovenous malformation of the brain, somatic, 108010 (3)
Gastric cancer, somatic, 137215 (3)
Bladder cancer, somatic, 109800 (3)
Breast cancer, somatic, 114480 (3)
Cardiofaciocutaneous syndrome 2, 615278 (3)
Leukemia, acute myeloid, 601626 (3)
Lung cancer, somatic, 211980 (3)
Noonan syndrome 3, 609942 (3)
Pancreatic carcinoma, somatic, 260350 (3)
RAS-associated autoimmune leukoproliferative disorder, 614470 (3)
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)
LIG4 {Multiple myeloma, resistance to}, 254500 (3)
LIG4 syndrome, 606593 (3)
LMAN1 Combined factor V and VIII deficiency, 227300 (3)
LRP5 Hyperostosis, endosteal, 144750 (3)
{Osteoporosis}, 166710 (3)
Exudative vitreoretinopathy 4, 601813 (3)
Osteopetrosis, autosomal dominant 1, 607634 (3)
Osteoporosis-pseudoglioma syndrome, 259770 (3)
Osteosclerosis, 144750 (3)
Polycystic liver disease 4 with or without kidney cysts, 617875 (3)
[Bone mineral density variability 1], 601884 (3)
van Buchem disease, type 2, 607636 (3)
LRP6 Tooth agenesis, selective, 7, 616724 (3)
{Coronary artery disease, autosomal dominant, 2}, 610947 (3)
MAP3K8 Lung cancer, somatic, 211980 (3)
MASP1 3MC syndrome 1, 257920 (3)
MAT1A Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3)
Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3)
MEFV Familial Mediterranean fever, AD, 134610 (3)
Familial Mediterranean fever, AR, 249100 (3)
NCF2 Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3)
NEK2 ?Retinitis pigmentosa 67, 615565 (3)
NOTCH2 Alagille syndrome 2, 610205 (3)
Hajdu-Cheney syndrome, 102500 (3)
NPPA Atrial fibrillation, familial, 6, 612201 (3)
Atrial standstill 2, 615745 (3)
NPRL3 Epilepsy, familial focal, with variable foci 3, 617118 (3)
NUP107 Galloway-Mowat syndrome 7, 618348 (3)
Nephrotic syndrome, type 11, 616730 (3)
?Ovarian dysgenesis 6, 618078 (3)
OAT Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 (3)
OPLAH 5-oxoprolinase deficiency, 260005 (3)
OXCT1 Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 (3)
PADI4 {Rheumatoid arthritis, susceptibility to}, 180300 (3)
PAH Phenylketonuria, 261600 (3)
[Hyperphenylalaninemia, non-PKU mild], 261600 (3)
PCK1 ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3)
PDE11A Pigmented nodular adrenocortical disease, primary, 2, 610475 (3)
PNPT1 Combined oxidative phosphorylation deficiency 13, 614932 (3)
Deafness, autosomal recessive 70, 614934 (3)
PRKCD Autoimmune lymphoproliferative syndrome, type III, 615559 (3)
PRKDC Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)
PSAT1 Neu-Laxova syndrome 2, 616038 (3)
?Phosphoserine aminotransferase deficiency, 610992 (3)
RAC2 Neutrophil immunodeficiency syndrome, 608203 (3)
RBMX ?Mental retardation, X-linked, syndromic 11, Shashi type, 300238 (3)
RIPK1 Immunodeficiency 57, 618108 (3)
RNASEH2B Aicardi-Goutieres syndrome 2, 610181 (3)
ROR2 Brachydactyly, type B1, 113000 (3)
Robinow syndrome, autosomal recessive, 268310 (3)
RTN4IP1 Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 (3)
SCAPER Intellectual developmental disorder and retinitis pigmentosa, 618195 (3)
SEC23A Craniolenticulosutural dysplasia, 607812 (3)
SLC37A4 Glycogen storage disease Ib, 232220 (3)
Glycogen storage disease Ic, 232240 (3)
SLC46A1 Folate malabsorption, hereditary, 229050 (3)
SON ZTTK syndrome, 617140 (3)
STAMBP Microcephaly-capillary malformation syndrome, 614261 (3)
SUFU Basal cell nevus syndrome, 109400 (3)
{Meningioma, familial, susceptibility to}, 607174 (3)
Joubert syndrome 32, 617757 (3)
Medulloblastoma, desmoplastic, 155255 (3)
TGIF1 Holoprosencephaly 4, 142946 (3)
TIRAP {Malaria, protection against}, 611162 (3)
{Pneumococcal disease, invasive, protection against}, 610799 (3)
{Tuberculosis, protection against}, 607948 (3)
{Bacteremia, protection against}, 614382 (3)
TLR3 {HIV1 infection, resistance to}, 609423 (3)
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}, 613002 (3)
TNFAIP3 Autoinflammatory syndrome, familial, Behcet-like, 616744 (3)
TPH2 {Unipolar depression, susceptibility to}, 608516 (3)
{Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (3)
USB1 Poikiloderma with neutropenia, 604173 (3)
USH1C Deafness, autosomal recessive 18A, 602092 (3)
Usher syndrome, type 1C, 276904 (3)
VWF von Willebrand disease, type 1, 193400 (3)
von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3)
von Willibrand disease, type 3, 277480 (3)
WARS Neuronopathy, distal hereditary motor, type IX, 617721 (3)
XDH Xanthinuria, type I, 278300 (3)

Genes at Clinical Genomics Database

ACAT1, ACTN4, ACVR1, ADA, ADAMTS13, ADCK3, ALDH4A1, APC, ARSB, ASS1, ATP6V1B1, BARD1, BTK, CA2, CA8, CCDC8, CD207, CFTR, CLDN16, COMT, CREB3L1, CRYBA4, CRYM, CYP11B2, DPP6, EGFR, EIF4A3, EMG1, EP300, EPHA2, ERCC1, FGFR2, FUT6, GLA, GUSB, HARS, HBB, HGF, HIBCH, HPS4, INPP5E, ISG15, ITPA, JAG1, KRAS, LIG4, LMAN1, LRP5, LRP6, MASP1, MAT1A, MEFV, NCF2, NEK2, NOTCH2, NPPA, NUP107, OAT, OPLAH, OXCT1, PAH, PDE11A, PNPT1, PRKCD, PRKDC, PSAT1, RAC2, RBMX, RNASEH2B, ROR2, RTN4IP1, SEC23A, SLC37A4, SLC46A1, STAMBP, SUFU, TGIF1, TLR3, TNFAIP3, USB1, USH1C, VWF, XDH, ZNF480,
ACAT1 Alpha-methylacetoacetic aciduria
ACTN4 Focal segmental glomerulosclerosis 1
ACVR1 Fibrodysplasia ossificans progressiva
ADA Severe combined immunodeficiency due to adenosine deaminase deficiency
ADAMTS13 Thrombotic thrombocytopenic purpura, familial
Schulman-Upshaw syndrome
ADCK3 Coenzyme Q10 deficiency
Progressive cerebellar ataxia and atrophy
Spinocerebellar ataxia 9
ALDH4A1 Hyperprolinemia, type II
APC Familial adenomatous polyposis
Gardner syndrome
Desmoid disease, hereditary
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy)
ASS1 Citrullinemia
ATP6V1B1 Renal tubular acidosis with deafness
BARD1 Breast cancer, susceptibility to
BTK Agammaglobulinemia, X-linked
Agammaglobulinemia and isolated hormone deficiency
Hypogammaglobulinemia, X-linked
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
CA8 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3
CCDC8 Three M syndrome 3
CD207 Birbeck granule deficiency
CFTR Cystic fibrosis
CLDN16 Hypomagnesemia 3, renal
COMT Medication response, association with
CREB3L1 Osteogenesis imperfecta, type XVI
CRYBA4 Cataract 23
CRYM Deafness, autosomal dominant 40
CYP11B2 Corticosterone methyloxidase type I deficiency
Corticosterone methyloxidase type II deficiency
Glucocorticoid-remediable aldosteronism
DPP6 Ventricular fibrillation, paroxysmal familial, 2
EGFR Acute myeloid leukemia, familial
Lung cancer, familial, susceptibilty to
Inflammatory skin and bowel disease, neonatal, 2
EIF4A3 Richieri-Costa-Pereira Syndrome
EMG1 Bowen-Conradi syndrome
EP300 Rubinstein-Taybi syndrome 2
EPHA2 Cataract 6, multiple types
ERCC1 Cerebrooculofacioskeletal syndrome 4
FGFR2 Lacrimoauriculodentodigital syndrome
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Sraniofacial-skeletal-dermatological dysplasia
Crouzon syndrome
Jackson-Weiss syndrome
Pfeiffer syndrome
Apert syndrome
Beare-Stevenson cutis gyrata syndrome
FUT6 Fucosyltransferase 6 deficiency
GLA Fabry disease
Fabry disease, cardiac variant
GUSB Mucopolysaccharidosis type VII
HARS Usher syndrome, type 3B
HBB Beta-thalassemia
Sickle cell disease
Thalassemia-beta, dominant inclusion body
Other Thalassemias/Hemoglobinopathies
HGF Deafness, autosomal recessive 39
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency
HPS4 Hermansky-Pudlak syndrome 4
INPP5E Joubert syndrome 1
Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome)
ISG15 Immunodeficiency 38, with basal ganglia calcification
ITPA Inosine triphosphatase deficiency
JAG1 Alagille syndrome
KRAS Noonan syndrome
Cardiofaciocutaneous syndrome
LIG4 LIG4 syndrome
Severe combined immunodeficiency with sensitivity to ionizing radiation
LMAN1 Combined factor V and VIII deficiency
LRP5 van Buchem disease, type 2
Osteopetrosis, autosomal dominant 1
Osteosclerosis
Hyperostosis, endosteal
Exudative vitreoretinopathy 4
Osteoporosis-pseudoglioma syndrome
LRP6 Coronary artery disease, autosomal dominant 2
MASP1 3MC syndrome 1
MAT1A Methionine adenosyltransferase deficiency
MEFV Familial Mediterranean fever
NCF2 Chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type II
NEK2 Retinitis pigmentosa 67
NOTCH2 Alagille syndrome 2
NPPA Atrial fibrillation, familial, 6
Atrial standstill 2
NUP107 Nephrotic syndrome, type 11
OAT Gyrate atrophy of choroid and retina
OPLAH 5-oxoprolinase deficiency
OXCT1 Succinyl CoA:3-oxoacid CoA transferase deficiency
PAH Phenylketonuria
Hyperphenylalaninemia, non-PKU mild
PDE11A Pigmented nodular adrenocortical disease, primary, 2
PNPT1 Deafness, autosomal recessive 70
PRKCD Autoimmune lymphoproliferative syndrome type III
PRKDC Immunodeficiency 26 with or without neurologic abnormalities
PSAT1 Phosphoserine aminotransferase deficiency
RAC2 Neutrophil immunodeficiency syndrome
RBMX Mental retardation, X-linked, syndromic 11, Shashi type
RNASEH2B Aicardi-Goutieres syndrome 2
ROR2 Robinow syndrome, autosomal recessive
Brachydactyly, type B1
RTN4IP1 Optic atrophy 10 with or without ataxia, mental retardation, and seizures
SEC23A Craniolenticulosutural dysplasia
SLC37A4 Glycogen storage disease Ib
Glycogen storage disease Ic
Glycogen storage disease Id
SLC46A1 Folate malabsorption, hereditary
STAMBP Microcephaly-capillary malformation syndrome
SUFU Medulloblastoma
Basal cell nevus syndrome
TGIF1 Holoprosencephaly 4
TLR3 Herpes simplex encephalitis, susceptibility to, 2
TNFAIP3 Autoinflammatory syndrome, familial, Behcet-like
USB1 Poikiloderma with neutropenia
USH1C Usher syndrome, type IC
Deafness, autosomal recessive 18A
VWF von Willebrand disease, type 1
von Willebrand disease, type 2A
von Willebrand disease, type 3
XDH Xanthinuria, type I
ZNF480 Schizophrenia

Genes at HGMD

Summary

Number of Variants: 486
Number of Genes: 418

Export to: CSV

A3GALT2
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 gt_so_4086_igt_1r 1 . 33777669 217.468 TA... TAG . 0/1 0 FRAME_SHIFT HIGH None None None None None None None A3GALT2|0.054156038|61.43%

AC005609.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gt_so_4086_igt_1r 5 . 140242451 191.468 GCC GC . 0/1 0 FRAME_SHIFT HIGH None None None None None None None PCDHA1|0.053770874|61.55%,PCDHA2|0.022057729|73.14%,PCDHA3|0.065561586|58.47%,PCDHA4|0.052208094|62.01%,PCDHA5|0.043866789|64.55%,PCDHA6|0.050872533|62.4%,PCDHA7|0.028518768|70.18%,PCDHA8|0.015875262|76.54%,PCDHA9|0.018630148|74.91%,PCDHA10|0.087661567|53.69%

AC017104.2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gt_so_4086_igt_1r 2 . 232317402 215.468 CAA CA . 0/1 0 FRAME_SHIFT HIGH None None None None None None None None

AC062017.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gt_so_4086_igt_1r 2 . 240323905 214.458 TG TGG . 1/1 0 FRAME_SHIFT HIGH None None None None None None None None

ACACB
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 gt_so_4086_igt_1r 12 rs11065772
dbSNP Clinvar 		109617865 221.999 T C . 1/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.67732 0.67730 0.25996 None None None None None None ACACB|0.108212697|49.54%

ACAT1
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 gt_so_4086_igt_1r 11 rs35188041
dbSNP Clinvar 		108009660 225.009 C A . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.12700 0.12700 0.18180 None None None None None None ACAT1|0.138678583|44.58%

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 gt_so_4086_igt_1r 17 rs8065502
dbSNP Clinvar 		40048613 221.999 A G . 1/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.90435 0.90440 0.12479 None None None None None None ACLY|0.44685425|18.3%

ACTN3
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 gt_so_4086_igt_1r 11 rs1815739
dbSNP Clinvar 		66328095 225.009 T C . 0/1 0 STOP_LOST HIGH None 0.59924 0.59920 0.35908 None None None None None None None

ACTN4
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 gt_so_4086_igt_1r 19 rs3745859
dbSNP Clinvar 		39196745 225.009 C T . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.33926 0.33930 0.39236 None None None None None None ACTN4|0.387377198|21.58%

ACTR8
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 gt_so_4086_igt_1r 3 rs4687757
dbSNP Clinvar 		53906513 221.999 G A . 1/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.69030 0.69030 0.48293 None None None None None None ACTR8|0.331819735|25.35%

ACVR1
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 gt_so_4086_igt_1r 2 rs1146031
dbSNP Clinvar 		158626980 221.999 C T . 1/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.91394 0.91390 0.08850 None None None None None None ACVR1|0.908763541|3.27%

ADA
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 gt_so_4086_igt_1r 20 rs244076
dbSNP Clinvar 		43252915 225.009 T C . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.26578 0.26580 0.24858 None None None None None None ADA|0.574821556|12.82%

ADAM8
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 gt_so_4086_igt_1r 10 rs1131720
dbSNP Clinvar 		135085321 221.999 C T . 1/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.84665 0.84660 0.15147 None None None None None None ADAM8|0.004556093|86.35%

ADAMTS13
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 gt_so_4086_igt_1r 9 rs3124768
dbSNP Clinvar 		136304497 225.009 A G . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.51597 0.51600 0.41542 None None None None None None ADAMTS13|0.009367264|81.4%

ADCK3
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 gt_so_4086_igt_1r 1 rs3738725
dbSNP Clinvar 		227174210 225.009 T C . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.31390 0.31390 0.44218 None None None None None None ADCK3|0.102470418|50.69%
View gt_so_4086_igt_1r 1 rs12593
dbSNP Clinvar 		227172290 225.009 C T . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.23862 0.23860 0.37367 None None None None None None ADCK3|0.102470418|50.69%

ADCY10
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 gt_so_4086_igt_1r 1 rs203849
dbSNP Clinvar 		167849414 147.008 A G . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.49321 0.49320 0.46570 None None None None None None ADCY10|0.02878338|70.03%

ADH1C
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 gt_so_4086_igt_1r 4 rs283413
dbSNP Clinvar 		100268190 221.999 A C . 1/1 0 STOP_LOST HIGH None 0.99281 0.99280 0.00839 None None None None None None None

AK9
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 gt_so_4086_igt_1r 6 . 109954523 225.009 C A . 0/1 0 STOP_GAINED HIGH None None None None None None None AK9|0.032678932|68.3%

ALDH3B1
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 gt_so_4086_igt_1r 11 . 67789293 214.458 GC GCC . 1/1 0 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None None ALDH3B1|0.033093329|68.12%

ALDH4A1
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 gt_so_4086_igt_1r 1 rs2230708
dbSNP Clinvar 		19201956 225.009 A G . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.73722 0.73720 0.29779 None None None None None None ALDH4A1|0.121498662|47.22%
View gt_so_4086_igt_1r 1 rs2230705
dbSNP Clinvar 		19203997 225.009 C G . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.64157 0.64160 0.28846 None None None None None None ALDH4A1|0.121498662|47.22%
View gt_so_4086_igt_1r 1 rs7550938
dbSNP Clinvar 		19202917 168.009 T C . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.66094 0.66090 0.37698 None None None None None None ALDH4A1|0.121498662|47.22%

ALKBH3
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 gt_so_4086_igt_1r 11 rs1048928
dbSNP Clinvar 		43940644 221.999 G T . 1/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.61621 0.61620 0.46456 None None None None None None ALKBH3|0.085956572|53.95%

ALOX15B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gt_so_4086_igt_1r 17 rs11541083
dbSNP Clinvar 		7950377 152.008 C T . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.24840 0.24840 0.26411 None None None None None None ALOX15B|0.008183706|82.49%
View gt_so_4086_igt_1r 17 rs9898751
dbSNP Clinvar 		7950952 216.009 C A . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.44748 0.44750 0.44649 None None None None None None ALOX15B|0.008183706|82.49%
View gt_so_4086_igt_1r 17 rs6503070
dbSNP Clinvar 		7948175 163.009 C T . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.59724 0.59720 0.44572 None None None None None None ALOX15B|0.008183706|82.49%

ANAPC1
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 gt_so_4086_igt_1r 2 rs72936240
dbSNP Clinvar 		112614429 111.008 G A . 0/1 0 STOP_GAINED HIGH None None None None None None None ANAPC1|0.14646446|43.53%

ANGPT2
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 gt_so_4086_igt_1r 8 rs2916747
dbSNP Clinvar 		6371291 225.009 A G . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.17532 0.17530 0.13440 None None None None None None MCPH1|0.001260573|94.1%,ANGPT2|0.704905052|8.36%

ANKDD1B
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 gt_so_4086_igt_1r 5 rs34358
dbSNP Clinvar 		74965122 225.009 G A . 0/1 0 STOP_GAINED HIGH None 0.50699 0.50700 None None None None None None ANKDD1B|0.036539802|66.95%

ANKRD30BL
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 gt_so_4086_igt_1r 2 rs142209162
dbSNP Clinvar 		132905706 130.008 A G . 0/1 0 STOP_LOST HIGH None None None None None None None ANKRD30BL|0.00124875|94.17%

ANKRD36C
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 gt_so_4086_igt_1r 2 rs111957693
dbSNP Clinvar 		96525717 118.467 A AT . 0/1 0 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View gt_so_4086_igt_1r 2 rs76474100
dbSNP Clinvar 		96617111 225.009 G A . 0/1 0 STOP_GAINED HIGH None 0.00040 0.00040 None None None None None None ANKRD36C|0.001406745|93.3%

AOAH
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 gt_so_4086_igt_1r 7 . 36552729 214.458 ATTT ATTTT . 1/1 0 FRAME_SHIFT HIGH None None None None None None None AOAH|0.05743156|60.58%

APC
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 gt_so_4086_igt_1r 5 rs41115
dbSNP Clinvar 		112175770 225.009 G A . 0/1 0 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH None 0.66554 0.66550 0.41378 None None None None None None APC|0.952088564|2.19%
View gt_so_4086_igt_1r 5 rs2229992
dbSNP Clinvar 		112162854 225.009 T C . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.50998 0.51000 0.46217 None None None None None None APC|0.952088564|2.19%

ARSB
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 gt_so_4086_igt_1r 5 rs1071598
dbSNP Clinvar 		78181423 225.009 C T . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.10863 0.10860 0.13701 0.19 0.12 None None None None None None ARSB|0.08485524|54.24%

ARSD
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 gt_so_4086_igt_1r X rs111939179
dbSNP Clinvar 		2833605 93.0077 C T . 0/1 0 STOP_GAINED HIGH None None None None None None None ARSD|0.001611053|92.29%

ASS1
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 gt_so_4086_igt_1r 9 rs10901072
dbSNP Clinvar 		133346226 225.009 C T . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.10723 0.10720 0.12402 None None None None None None ASS1|0.463790404|17.47%

ATP6V1B1
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 gt_so_4086_igt_1r 2 rs11681642
dbSNP Clinvar 		71163086 221.999 T C . 1/1 0 START_LOST HIGH None 0.36881 0.36880 0.41504 0.00 0.60 None None None None None None ATP6V1B1|0.123167959|46.96%

ATP8B3
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 gt_so_4086_igt_1r 19 rs60482625
dbSNP Clinvar 		1783027 188.009 T C . 0/1 0 STOP_LOST HIGH None 0.08966 0.08966 0.09237 None None None None None None ATP8B3|0.003576519|87.64%

BACH2
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 gt_so_4086_igt_1r 6 rs2236181
dbSNP Clinvar 		90661576 225.009 T C . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.49082 0.49080 0.39198 None None None None None None BACH2|0.725202882|7.84%

BARD1
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 gt_so_4086_igt_1r 2 rs2070093
dbSNP Clinvar 		215632256 221.999 A G . 1/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.77057 0.77060 0.28618 None None None None None None BARD1|0.230178617|33.35%
View gt_so_4086_igt_1r 2 rs2070094
dbSNP Clinvar 		215632255 225.009 C T . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.36621 0.36620 0.28064 0.12 0.03 None None None None None None BARD1|0.230178617|33.35%

BBOX1
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 gt_so_4086_igt_1r 11 rs77035197
dbSNP Clinvar 		27148847 98.0078 G A . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.02077 0.02077 0.03015 None None None None None None BBOX1|0.370127414|22.69%

BRD7
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 gt_so_4086_igt_1r 16 . 50368677 4.41581 CC... CC... . 0/1 0 FRAME_SHIFT HIGH None None None None None None None BRD7|0.151001826|42.84%

BTK
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 gt_so_4086_igt_1r X rs1135363
dbSNP Clinvar 		100608191 221.999 G A . 1/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.50808 0.50810 0.39042 None None None None None None BTK|0.867331978|4.3%

C10orf113
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 gt_so_4086_igt_1r 10 . 21435340 214.458 AC... AC . 1/1 0 FRAME_SHIFT HIGH None None None None None None None NEBL|0.384110937|21.79%,C10orf113|0.004367738|86.51%

C12orf40
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 gt_so_4086_igt_1r 12 . 40115022 217.468 CT C . 0/1 0 FRAME_SHIFT HIGH None None None None None None None C12orf40|0.007168323|83.31%

C12orf60
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 gt_so_4086_igt_1r 12 . 14976417 217.468 CTAT CT . 0/1 0 FRAME_SHIFT HIGH None None None None None None None C12orf60|0.003562818|87.67%

C17orf100
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 gt_so_4086_igt_1r 17 . 6555546 214.458 CGG CGGG . 1/1 0 FRAME_SHIFT HIGH None None None None None None None C17orf100|0.00636282|84.22%

C21orf49
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 gt_so_4086_igt_1r 21 rs72564613
dbSNP Clinvar 		34169317 214.458 C CT . 1/1 0 FRAME_SHIFT HIGH None 0.73183 0.73180 None None None None None None C21orf62-AS1|0.000768866|96.88%,C21orf62|0.009914309|80.91%

C5orf20
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 gt_so_4086_igt_1r 5 rs12520799
dbSNP Clinvar 		134782450 221.999 T A . 1/1 0 STOP_GAINED HIGH None 0.64517 0.64520 0.40151 None None None None None None DCANP1|0.000625841|97.73%,TIFAB|0.012847206|78.59%

C9orf89
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 gt_so_4086_igt_1r 9 rs17593496
dbSNP Clinvar 		95872885 225.009 C T . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.05950 0.05950 0.11333 None None None None None None C9orf89|0.045771213|63.96%

CA2
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 gt_so_4086_igt_1r 8 rs703
dbSNP Clinvar 		86389403 225.009 T C . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.57768 0.57770 0.35691 None None None None None None CA2|0.889108016|3.7%

CA8
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 gt_so_4086_igt_1r 8 rs7464181
dbSNP Clinvar 		61178574 221.999 T C . 1/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.50100 0.50100 0.47178 None None None None None None CA8|0.652125387|10.02%

CAMK2B
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 gt_so_4086_igt_1r 7 rs11542228
dbSNP Clinvar 		44282868 200.009 A G . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.33566 0.33570 0.39905 None None None None None None CAMK2B|0.490715837|16.28%

CASP12
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 gt_so_4086_igt_1r 11 rs497116
dbSNP Clinvar 		104763117 221.999 G A . 1/1 0 STOP_GAINED HIGH None 0.94848 0.94850 None None None None None None CASP12|0.001761043|91.65%

CBLC
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gt_so_4086_igt_1r 19 rs35106910
dbSNP Clinvar 		45284266 225.009 A C . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.09924 0.09924 0.06897 0.00 1.00 None None None None None None CBLC|0.013025903|78.49%

CC2D2B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gt_so_4086_igt_1r 10 rs374616081
dbSNP Clinvar 		97787033 225.009 C T . 0/1 0 STOP_GAINED HIGH None 0.00379 0.00379 None None None None None None CC2D2B|0.177542097|39.36%

CCDC8
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 gt_so_4086_igt_1r 19 rs2279517
dbSNP Clinvar 		46914547 225.009 C G . 0/1 0 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH None 0.08227 0.08227 0.04429 0.00 0.63 None None None None None None CCDC8|0.002358405|90.02%

CD180
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 gt_so_4086_igt_1r 5 rs1697144
dbSNP Clinvar 		66480004 221.999 T C . 1/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.99501 0.99500 0.00008 0.57 0.00 None None None None None None CD180|0.02755401|70.63%

CD200R1L
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 gt_so_4086_igt_1r 3 rs58161637
dbSNP Clinvar 		112545910 217.468 GT G . 0/1 0 FRAME_SHIFT HIGH None 0.16793 0.16790 0.25348 None None None None None None CD200R1L|0.000888221|96.09%

CD207
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 gt_so_4086_igt_1r 2 . 71062833 214.458 GC GCC . 1/1 0 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None None CD207|0.004253024|86.68%
View gt_so_4086_igt_1r 2 rs13383830
dbSNP Clinvar 		71058306 225.009 T C . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.12959 0.12960 0.08711 0.04 0.28 None None None None None None CD207|0.004253024|86.68%
View gt_so_4086_igt_1r 2 rs3213749
dbSNP Clinvar 		71058906 225.009 G T . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.12939 0.12940 0.08546 None None None None None None CD207|0.004253024|86.68%
View gt_so_4086_igt_1r 2 rs6712863
dbSNP Clinvar 		71060037 225.009 A G . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.17292 0.17290 0.13582 None None None None None None CD207|0.004253024|86.68%

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 gt_so_4086_igt_1r 17 rs112848754
dbSNP Clinvar 		45234406 128.467 CA C . 0/1 0 FRAME_SHIFT HIGH None None None None None None None CDC27|0.658499283|9.78%
View gt_so_4086_igt_1r 17 rs77685276
dbSNP Clinvar 		45214558 122.008 G A . 0/1 0 STOP_GAINED HIGH None None None None None None None CDC27|0.658499283|9.78%

CFTR
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 gt_so_4086_igt_1r 7 rs79074685
dbSNP Clinvar 		117188850 26.0177 G T . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00100 None None None None None None CFTR|0.947527653|2.33%

CHI3L1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gt_so_4086_igt_1r 1 rs880633
dbSNP Clinvar 		203152801 192.009 T C . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.37300 0.37300 0.41442 0.00 0.31 None None None None None None CHI3L1|0.048433283|63.15%
View gt_so_4086_igt_1r 1 rs4950927
dbSNP Clinvar 		203148633 221.999 A G . 1/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.99960 0.99960 0.00185 None None None None None None CHI3L1|0.048433283|63.15%

CHI3L2
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 gt_so_4086_igt_1r 1 rs11556868
dbSNP Clinvar 		111778325 225.009 C T . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.07268 0.07268 0.09780 0.03 0.90 None None None None None None CHI3L2|0.012602272|78.81%
View gt_so_4086_igt_1r 1 rs2494007
dbSNP Clinvar 		111783996 221.999 A G . 1/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.99940 0.99940 0.00062 None None None None None None CHI3L2|0.012602272|78.81%

CHIA
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 gt_so_4086_igt_1r 1 rs2275253
dbSNP Clinvar 		111861841 225.009 A G . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.65915 0.65910 0.27764 0.99 0.00 None None None None None None CHIA|0.03435619|67.66%

CIRH1A
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 gt_so_4086_igt_1r 16 . 69187532 16.1143 C T . 0/1 0 STOP_GAINED HIGH None None None None None None None CIRH1A|0.523494416|14.84%

CKB
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 gt_so_4086_igt_1r 14 rs1803283
dbSNP Clinvar 		103986255 221.999 C T . 1/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.63898 0.63900 0.41609 None None None None None None CKB|0.155239483|42.26%

CLDN16
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 gt_so_4086_igt_1r 3 . 190106071 208.468 AGGG AGG . 0/1 0 FRAME_SHIFT HIGH None None None None None None None CLDN16|0.053365905|61.68%

CLECL1
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 gt_so_4086_igt_1r 12 . 9885707 217.468 AT... AT... . 0/1 0 FRAME_SHIFT HIGH None None None None None None None CLECL1|0.001440928|93.09%

CNOT1
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 gt_so_4086_igt_1r 16 rs246258
dbSNP Clinvar 		58579274 225.009 C T . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.28435 0.28430 0.22176 None None None None None None CNOT1|0.849359651|4.66%

COL26A1
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 gt_so_4086_igt_1r 7 . 101200669 214.458 AGG AGGG . 1/1 0 FRAME_SHIFT HIGH None None None None None None None COL26A1|0.059520302|60.03%

COMT
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 gt_so_4086_igt_1r 22 rs4633
dbSNP Clinvar 		19950235 75.0075 C T . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.37161 0.37160 0.46009 None None None None None None COMT|0.166055932|40.8%
View gt_so_4086_igt_1r 22 rs4818
dbSNP Clinvar 		19951207 225.009 C G . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.29693 0.29690 0.32754 None None None None None None COMT|0.166055932|40.8%

CPN2
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 gt_so_4086_igt_1r 3 rs4974539
dbSNP Clinvar 		194061907 225.009 G A . 0/1 0 STOP_GAINED HIGH None 0.28015 0.28020 0.34453 None None None None None None CPN2|0.013888065|77.95%

CPSF6
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 gt_so_4086_igt_1r 12 rs2305641
dbSNP Clinvar 		69646914 221.999 G A . 1/1 0 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH None 0.42871 0.42870 0.44162 None None None None None None CPSF6|0.653941863|9.94%

CREB3L1
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 gt_so_4086_igt_1r 11 . 46342259 214.458 AGG AGGG . 1/1 0 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None None CREB3L1|0.229770101|33.39%

CRYBA4
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 gt_so_4086_igt_1r 22 rs5761637
dbSNP Clinvar 		27021457 221.999 T C . 1/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.92372 0.92370 0.12663 None None None None None None CRYBA4|0.095204311|52.06%

CRYM
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 gt_so_4086_igt_1r 16 rs14122
dbSNP Clinvar 		21272591 192.009 G C . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.50260 0.50260 0.46853 None None None None None None CRYM|0.245016591|32%

CRYZ
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 gt_so_4086_igt_1r 1 rs7527057
dbSNP Clinvar 		75172001 221.999 T A . 1/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.21645 0.21650 0.34113 None None None None None None CRYZ|0.12483251|46.66%

CTBP2
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 gt_so_4086_igt_1r 10 rs73373169
dbSNP Clinvar 		126678092 225.009 G A . 0/1 0 STOP_GAINED HIGH None None None None None None None CTBP2|0.585435328|12.33%

CWC15
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 gt_so_4086_igt_1r 11 . 94699507 214.458 AT ATT . 1/1 0 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None None CWC15|0.589318607|12.16%

CYFIP2
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 gt_so_4086_igt_1r 5 . 156721863 214.458 TCCC TCCCC . 1/1 0 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None None CYFIP2|0.509393402|15.41%

CYP11B2
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 gt_so_4086_igt_1r 8 rs4539
dbSNP Clinvar 		143996539 179.009 T C . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.34645 0.34640 0.37660 0.58 0.00 None None None None None None GML|0.000127964|99.9%,CYP11B2|0.013075672|78.46%
View gt_so_4086_igt_1r 8 rs4538
dbSNP Clinvar 		143994702 129.008 G T . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.60763 0.60760 0.46585 None None None None None None GML|0.000127964|99.9%,CYP11B2|0.013075672|78.46%

CYP2F1
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 gt_so_4086_igt_1r 19 . 41622107 214.458 GC GCC . 1/1 0 FRAME_SHIFT HIGH None None None None None None None CYP2F1|0.005806489|84.82%

CYP4B1
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 gt_so_4086_igt_1r 1 rs3215983
dbSNP Clinvar 		47280746 217.468 GAT G . 0/1 0 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.13538 0.13540 0.11430 None None None None None None CYP4B1|0.038794091|66.17%

CYTH3
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 gt_so_4086_igt_1r 7 rs2301910
dbSNP Clinvar 		6204999 221.999 A C . 1/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.79513 0.79510 0.25331 None None None None None None CYTH3|0.105093333|50.21%

DCAF7
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 gt_so_4086_igt_1r 17 . 61660889 87.4564 CG... CG... . 1/1 0 FRAME_SHIFT HIGH None None None None None None None DCAF7|0.572121444|12.88%

DEFB126
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 gt_so_4086_igt_1r 20 . 126310 217.468 AC... ACCC . 0/1 0 FRAME_SHIFT HIGH None None None None None None None DEFB126|0.000084056|99.96%

DHRS4
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 gt_so_4086_igt_1r 14 rs12147221
dbSNP Clinvar 		24424367 225.009 G A . 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.20088 0.20090 0.22321 None None None None None None DHRS4|0.01129792|79.79%