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+ Genes 214

Genes:
AASDH, ACACB, ACLY, ACSM2A, ACTN3, ACVR1, ADA, ADAM33, ADCK3, ADCY10, ADH1C, ADRBK1, AGO2, AGXT, AKR1C1, ALAD, ALDH4A1, ALG9, ANKRD36, AOAH, APC, AQP2, ASB10, ATP6V1B1, ATXN2, ATXN3, BARD1, BARHL2, BCR, BTNL2, C11orf58, CA2, CASP12, CBLB, CBR3, CBS, CCHCR1, CCR5, CD207, CDC27, CFTR, CHI3L1, CHI3L2, CHIA, CHIT1, CHRFAM7A, CLDN16, CLTCL1, COMT, CPB2, CPN2, CPOX, CRYBA4, CRYM, CSF1R, CYP11B2, CYP2A13, CYP2R1, DBI, DDR1, DEFB126, DOC2A, DPP6, DPYSL2, DUOX2, E2F8, EGFR, EMG1, EP400, EPHA2, EPHX2, ERAP1, ERAP2, ERCC1, FAM58A, FASN, FCER2, FDFT1, FGFR2, FGFRL1, FLNC, FOLH1, FOXD4L3, FRG1B, FUT2, GLTP, GSTA1, GUSB, GXYLT1, GZMB, HBB, HCN2, HCN3, HDAC3, HGF, HIBCH, HIF1AN, HK2, HLA-A, HLA-B, HLA-DPB1, HSPA2, HYDIN, IL12B, IL17RB, INMT, JMJD1C, KIR2DL4, KIR2DS4, KIR3DL2, KIR3DL3, KISS1, KLHL3, KMT2C, KRAS, KYNU, LGALS3, LRP6, LTN1, MAML3, MAOA, MAP2K3, MAPK12, MASP1, MAT1A, MEFV, MEP1B, MICA, MROH8, MTCH2, MUC3A, MUC4, MUC6, MYO5B, MYOM1, NCAM1, NCF2, NCR3, NEU2, NLRX1, NOTCH2NL, NPSR1, NR2F2, OAS2, OAT, P2RX5, PCDHA4, PCK1, PCSK9, PDE10A, PDE4B, PEBP4, PFKFB2, PLA2G7, POLRMT, PPP2CA, PRB3, PRB4, PRKDC, PRNP, PRODH, PRSS3, PSAT1, PSPH, PTCHD3, PTPN6, RECQL4, ROBO1, RP11-1055B8.7, RP11-867G23.8, RPA1, SBK3, SEC23A, SERPINB5, SIGLEC12, SIRT3, SLC22A10, SLC22A9, SLC37A4, SLC46A1, SLC6A18, SORL1, STK10, SULT2A1, TAAR9, TACC3, TAS2R19, TBP, TGFBR2, TGIF1, TIRAP, TLR10, TLR3, TNFSF15, TP73, TPH2, TPSD1, TPTE, TRPV4, UBE2NL, UBR3, UMPS, UNC93A, UTF1, VAV1, VCX, VWF, WNK1, XDH, XPNPEP3, XYLB, ZAN, ZAP70, ZNF480,

+ Genes associated with diseases 97

Genes at Omim

ACTN3, ACVR1, ADA, ADCK3, ADCY10, ADH1C, AGXT, ALAD, ALDH4A1, ALG9, APC, AQP2, ASB10, ATXN2, ATXN3, BARD1, BCR, BTNL2, CA2, CASP12, CBS, CCR5, CD207, CFTR, CHI3L1, CLDN16, COMT, CPOX, CRYBA4, CRYM, CSF1R, CYP11B2, CYP2R1, DPP6, DUOX2, EGFR, EMG1, EPHA2, EPHX2, ERCC1, FAM58A, FDFT1, FGFR2, FLNC, FUT2, GUSB, HBB, HGF, HIBCH, HLA-A, HLA-B, HLA-DPB1, HYDIN, IL12B, KISS1, KLHL3, KMT2C, KRAS, KYNU, LRP6, MAOA, MASP1, MAT1A, MEFV, MYO5B, NCF2, NCR3, NPSR1, NR2F2, OAT, PCK1, PCSK9, PDE10A, PLA2G7, PPP2CA, PRKDC, PRNP, PRODH, PSAT1, PSPH, RECQL4, SEC23A, SLC37A4, SLC46A1, TBP, TGFBR2, TGIF1, TIRAP, TLR3, TPH2, TRPV4, UMPS, VWF, WNK1, XDH, XPNPEP3, ZAP70,
ACTN3 [Alpha-actinin-3 deficiency], 617749 (3)
[Sprinting performance], 617749 (3)
ACVR1 Fibrodysplasia ossificans progressiva, 135100 (3)
ADA Adenosine deaminase deficiency, partial, 102700 (3)
Severe combined immunodeficiency due to ADA deficiency, 102700 (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)
AGXT Hyperoxaluria, primary, type 1, 259900 (3)
ALAD {Lead poisoning, susceptibility to}, 612740 (3)
Porphyria, acute hepatic, 612740 (3)
ALDH4A1 Hyperprolinemia, type II, 239510 (3)
ALG9 Gillessen-Kaesbach-Nishimura syndrome, 263210 (3)
Congenital disorder of glycosylation, type Il, 608776 (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)
AQP2 Diabetes insipidus, nephrogenic, 125800 (3)
ASB10 Glaucoma 1, open angle, F, 603383 (3)
ATXN2 {Parkinson disease, late-onset, susceptibility to}, 168600 (3)
Spinocerebellar ataxia 2, 183090 (3)
{Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090 (3)
ATXN3 Machado-Joseph disease, 109150 (3)
BARD1 {Breast cancer, susceptibility to}, 114480 (3)
BCR Leukemia, acute lymphocytic, somatic, 613065 (3)
Leukemia, chronic myeloid, somatic, 608232 (3)
BTNL2 {Sarcoidosis, susceptibility to, 2}, 612387 (3)
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3)
CASP12 {Sepsis, susceptibility to} (3)
CBS Homocystinuria, B6-responsive and nonresponsive types, 236200 (3)
Thrombosis, hyperhomocysteinemic, 236200 (3)
CCR5 {HIV infection, susceptibility/resistance to} (3)
{Hepatitis C virus, resistance to}, 609532 (3)
{West nile virus, susceptibility to}, 610379 (3)
{Diabetes mellitus, insulin-dependent, 22}, 612522 (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)
CPOX Harderoporphyria, 121300 (3)
Coproporphyria, 121300 (3)
CRYBA4 Cataract 23, 610425 (3)
CRYM Deafness, autosomal dominant 40, 616357 (3)
CSF1R Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 (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)
CYP2R1 Rickets due to defect in vitamin D 25-hydroxylation, 600081 (3)
DPP6 {Ventricular fibrillation, paroxysmal familial, 2}, 612956 (3)
Mental retardation, autosomal dominant 33, 616311 (3)
DUOX2 Thyroid dyshormonogenesis 6, 607200 (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)
EPHA2 Cataract 6, multiple types, 116600 (3)
EPHX2 {Hypercholesterolemia, familial, due to LDLR defect, modifier of}, 143890 (3)
ERCC1 Cerebrooculofacioskeletal syndrome 4, 610758 (3)
FAM58A STAR syndrome, 300707 (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)
FLNC Cardiomyopathy, familial hypertrophic, 26 (3)
Cardiomyopathy, familial restrictive 5, 617047 (3)
Myopathy, distal, 4, 614065 (3)
Myopathy, myofibrillar, 5, 609524 (3)
FUT2 {Norwalk virus infection, resistance to} (3)
{Vitamin B12 plasma level QTL1}, 612542 (3)
[Bombay phenotype, digenic], 616754 (3)
GUSB Mucopolysaccharidosis VII, 253220 (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-A {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-B {Spondyloarthropathy, susceptibility to, 1}, 106300 (3)
{Stevens-Johnson syndrome, susceptibility to}, 608579 (3)
{Synovitis, chronic, susceptibility to} (3)
{Toxic epidermal necrolysis, susceptibility to}, 608579 (3)
{Abacavir hypersensitivity, susceptibility to} (3)
{Drug-induced liver injury due to flucloxacillin} (3)
HLA-DPB1 {Beryllium disease, chronic, susceptibility to} (3)
HYDIN Ciliary dyskinesia, primary, 5, 608647 (3)
IL12B Immunodeficiency 29, mycobacteriosis, 614890 (3)
KISS1 ?Hypogonadotropic hypogonadism 13 with or without anosmia, 614842 (3)
KLHL3 Pseudohypoaldosteronism, type IID, 614495 (3)
KMT2C Kleefstra syndrome 2, 617768 (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)
KYNU ?Hydroxykynureninuria, 236800 (3)
Vertebral, cardiac, renal, and limb defects syndrome 2, 617661 (3)
LRP6 Tooth agenesis, selective, 7, 616724 (3)
{Coronary artery disease, autosomal dominant, 2}, 610947 (3)
MAOA Brunner syndrome, 300615 (3)
{Antisocial behavior}, 300615 (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)
MYO5B Microvillus inclusion disease, 251850 (3)
NCF2 Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3)
NCR3 {Malaria, mild, susceptibility to}, 609148 (3)
NPSR1 {Asthma, susceptibility to, 2}, 608584 (3)
NR2F2 Congenital heart defects, multiple types, 4, 615779 (3)
OAT Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 (3)
PCK1 ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3)
PCSK9 {Low density lipoprotein cholesterol level QTL 1}, 603776 (3)
Hypercholesterolemia, familial, 3, 603776 (3)
PDE10A Dyskinesia, limb and orofacial, infantile-onset, 616921 (3)
Striatal degeneration, autosomal dominant, 616922 (3)
PLA2G7 Platelet-activating factor acetylhydrolase deficiency, 614278 (3)
{Asthma, susceptibility to}, 600807 (3)
{Atopy, susceptibility to}, 147050 (3)
PPP2CA Neurodevelopmental disorder and language delay with or without structural brain abnormalities, 618354 (3)
PRKDC Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)
PRNP Gerstmann-Straussler disease, 137440 (3)
{Kuru, susceptibility to}, 245300 (3)
Cerebral amyloid angiopathy, PRNP-related, 137440 (3)
Huntington disease-like 1, 603218 (3)
Creutzfeldt-Jakob disease, 123400 (3)
Insomnia, fatal familial, 600072 (3)
Prion disease with protracted course, 606688 (3)
PRODH Hyperprolinemia, type I, 239500 (3)
{Schizophrenia, susceptibility to, 4}, 600850 (3)
PSAT1 Neu-Laxova syndrome 2, 616038 (3)
?Phosphoserine aminotransferase deficiency, 610992 (3)
PSPH Phosphoserine phosphatase deficiency, 614023 (3)
RECQL4 Baller-Gerold syndrome, 218600 (3)
RAPADILINO syndrome, 266280 (3)
Rothmund-Thomson syndrome, 268400 (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)
TBP {Parkinson disease, susceptibility to}, 168600 (3)
Spinocerebellar ataxia 17, 607136 (3)
TGFBR2 Colorectal cancer, hereditary nonpolyposis, type 6, 614331 (3)
Loeys-Dietz syndrome 2, 610168 (3)
Esophageal cancer, somatic, 133239 (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)
TPH2 {Unipolar depression, susceptibility to}, 608516 (3)
{Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (3)
TRPV4 Brachyolmia type 3, 113500 (3)
Hereditary motor and sensory neuropathy, type IIc, 606071 (3)
Digital arthropathy-brachydactyly, familial, 606835 (3)
Metatropic dysplasia, 156530 (3)
Parastremmatic dwarfism, 168400 (3)
?Avascular necrosis of femoral head, primary, 2, 617383 (3)
SED, Maroteaux type, 184095 (3)
Scapuloperoneal spinal muscular atrophy, 181405 (3)
Spinal muscular atrophy, distal, congenital nonprogressive, 600175 (3)
Spondylometaphyseal dysplasia, Kozlowski type, 184252 (3)
[Sodium serum level QTL 1], 613508 (3)
UMPS Orotic aciduria, 258900 (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)
WNK1 Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)
Pseudohypoaldosteronism, type IIC, 614492 (3)
XDH Xanthinuria, type I, 278300 (3)
XPNPEP3 Nephronophthisis-like nephropathy 1, 613159 (3)
ZAP70 Autoimmune disease, multisystem, infantile-onset, 2, 617006 (3)
Immunodeficiency 48, 269840 (3)

Genes at Clinical Genomics Database

ACVR1, ADA, ADCK3, AGXT, ALAD, ALDH4A1, ALG9, APC, AQP2, ATP6V1B1, ATXN2, ATXN3, BARD1, BCR, CA2, CBS, CD207, CFTR, CHIT1, CLDN16, COMT, CPOX, CRYBA4, CRYM, CSF1R, CYP11B2, CYP2R1, DPP6, DUOX2, EGFR, EMG1, EPHA2, ERCC1, FAM58A, FGFR2, FLNC, GUSB, HBB, HGF, HIBCH, HLA-A, HLA-B, IL12B, KISS1, KLHL3, KRAS, KYNU, LRP6, MAOA, MASP1, MAT1A, MEFV, MYO5B, NCF2, NR2F2, OAT, PCSK9, PDE10A, PLA2G7, PRKDC, PRNP, PRODH, PSAT1, PSPH, RECQL4, SEC23A, SLC37A4, SLC46A1, TBP, TGFBR2, TGIF1, TLR3, TRPV4, UMPS, VWF, WNK1, XDH, XPNPEP3, ZAP70, ZNF480,
ACVR1 Fibrodysplasia ossificans progressiva
ADA Severe combined immunodeficiency due to adenosine deaminase deficiency
ADCK3 Coenzyme Q10 deficiency
Progressive cerebellar ataxia and atrophy
Spinocerebellar ataxia 9
AGXT Hyperoxaluria, primary, type 1
ALAD Porphyria, acute hepatic
ALDH4A1 Hyperprolinemia, type II
ALG9 Congenital disorder of glycosylation, type Il
APC Familial adenomatous polyposis
Gardner syndrome
Desmoid disease, hereditary
AQP2 Diabetes insipidus, nephrogenic, autosomal
ATP6V1B1 Renal tubular acidosis with deafness
ATXN2 Spinocerebellar ataxia 2
ATXN3 Spinocerebellar ataxia 3 (Machado-Joseph disease)
BARD1 Breast cancer, susceptibility to
BCR CML treatment, response to
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
CBS Homocystinuria due to cystathionine beta-synthase deficiency
CD207 Birbeck granule deficiency
CFTR Cystic fibrosis
CHIT1 Chitotriosidase deficiency
CLDN16 Hypomagnesemia 3, renal
COMT Medication response, association with
CPOX Coproporphyria
Harderoporphyria
CRYBA4 Cataract 23
CRYM Deafness, autosomal dominant 40
CSF1R Leukoencephalopathy, diffuse hereditary, with spheroids
CYP11B2 Corticosterone methyloxidase type I deficiency
Corticosterone methyloxidase type II deficiency
Glucocorticoid-remediable aldosteronism
CYP2R1 Vitamin D hydroxylation deficient rickets, type 1B
DPP6 Ventricular fibrillation, paroxysmal familial, 2
DUOX2 Thyroid dyshormonogenesis 6
EGFR Acute myeloid leukemia, familial
Lung cancer, familial, susceptibilty to
Inflammatory skin and bowel disease, neonatal, 2
EMG1 Bowen-Conradi syndrome
EPHA2 Cataract 6, multiple types
ERCC1 Cerebrooculofacioskeletal syndrome 4
FAM58A STAR syndrome
Toe syndactyly, telecanthus, and anogenital and renal malformations
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
FLNC Myopathy, distal, 4
Myopathy, myofibrillar, 5
GUSB Mucopolysaccharidosis type VII
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
HLA-A Drug-induced toxicity, susceptibility to
HLA-B Drug-induced toxicity, susceptibility to
IL12B Immunodeficiency 28
Immunodeficiency 29
KISS1 Hypogonadotropic hypogonadism 13 with or without anosmia
KLHL3 Pseudohypoaldosteronism, type IID
KRAS Noonan syndrome
Cardiofaciocutaneous syndrome
KYNU Hydroxykynureninuria
LRP6 Coronary artery disease, autosomal dominant 2
MAOA Brunner syndrome
MASP1 3MC syndrome 1
MAT1A Methionine adenosyltransferase deficiency
MEFV Familial Mediterranean fever
MYO5B Diarrhea 2, with microvillus atrophy
NCF2 Chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type II
NR2F2 Congenital heart defects 4
OAT Gyrate atrophy of choroid and retina
PCSK9 Hypercholesterolemia, familial, 3
PDE10A Striatal degeneration, autosomal dominant 2
Infantile-onset dyskinesia
PLA2G7 Platelet-activating factor acetylhydrolase deficiency
PRKDC Immunodeficiency 26 with or without neurologic abnormalities
PRNP Spongiform encephalopathy with neuropsychiatric features
Huntington disease-like 1
Gerstmann-Straussler disease
Creutzfeldt-Jakob disease
Insomnia, fatal familial
Dementia, Lewy body
PRODH Hyperprolinemia, type I
PSAT1 Phosphoserine aminotransferase deficiency
PSPH Phosphoserine phosphatase deficiency
RECQL4 Baller-Gerold syndrome
RAPADILINO syndrome
Rothmund-Thomson syndrome
SEC23A Craniolenticulosutural dysplasia
SLC37A4 Glycogen storage disease Ib
Glycogen storage disease Ic
Glycogen storage disease Id
SLC46A1 Folate malabsorption, hereditary
TBP Spinocerebellar ataxia 17
TGFBR2 Loeys-Dietz syndrome, type 2B
Loeys-Dietz syndrome, type 1B
TGIF1 Holoprosencephaly 4
TLR3 Herpes simplex encephalitis, susceptibility to, 2
TRPV4 Spinal muscular atrophy, distal, congenital nonprogressive
Brachyolmia type 3
Metatropic dysplasia
Spondyloepiphyseal dysplasia, Maroteaux type
Scapuloperoneal spinal muscular atrophy
Hereditary motor and sensory neuropathy, type Iic
Spondylometaphyseal dysplasia, Kozlowski type
Parastremmatic dwarfism
Digital arthropathy-brachydactyly, familial
UMPS Orotic aciduria
VWF von Willebrand disease, type 1
von Willebrand disease, type 2A
von Willebrand disease, type 3
WNK1 Pseudohypoaldosteronism, type IIC
Neuropathy, hereditary sensory and autonomic, type IIA
XDH Xanthinuria, type I
XPNPEP3 Nephronophthisis-like nephropathy 1
ZAP70 Selective T-cell defect
ZNF480 Schizophrenia

Genes at HGMD

Summary

Number of Variants: 280
Number of Genes: 214

Export to: CSV

AASDH
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 pjgl final 4 rs770970036
dbSNP Clinvar 		57220268 12.93 CA C PASS 1/1 2 FRAME_SHIFT HIGH None None None None None None AASDH|0.054593955|61.31%

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 pjgl final 12 rs11065772
dbSNP Clinvar 		109617865 4335.77 T C PASS 1/1 158 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.67732 0.67730 0.25996 None None None None None None ACACB|0.108212697|49.54%

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 pjgl final 17 rs8065502
dbSNP Clinvar 		40048613 1469.77 A G PASS 1/1 50 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.90435 0.90440 0.12479 None None None None None None ACLY|0.44685425|18.3%

ACSM2A
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 pjgl final 16 rs1700805
dbSNP Clinvar 		20488696 2132.77 A G PASS 1/1 71 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.48482 0.48480 0.35969 None None None None None None ACSM2A|0.005190474|85.6%
View pjgl final 16 rs768743436
dbSNP Clinvar 		20487076 46.77 C T VQSRTrancheSNP99.90to100.00 0/1 122 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.54 0.00 None None None None None None ACSM2A|0.005190474|85.6%

ACTN3
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 pjgl final 11 rs1815739
dbSNP Clinvar 		66328095 533.77 T C PASS 0/1 72 STOP_LOST HIGH MISSENSE 0.59924 0.59920 0.35908 None None None None None None None

ACVR1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pjgl final 2 rs1146031
dbSNP Clinvar 		158626980 4260.77 C T PASS 1/1 157 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 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 pjgl final 20 rs244076
dbSNP Clinvar 		43252915 781.77 T C PASS 0/1 66 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.26578 0.26580 0.24858 None None None None None None ADA|0.574821556|12.82%
View pjgl final 20 rs394105
dbSNP Clinvar 		43264927 1831.77 C T PASS 1/1 61 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.98223 0.98220 0.01538 None None None None None None ADA|0.574821556|12.82%

ADAM33
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 pjgl final 20 rs146576636,rs17548837
dbSNP Clinvar 		3649632 1072.73 AT... A PASS 0/1 54 FRAME_SHIFT HIGH 0.07049 0.07049 0.03882 None None None None None None ADAM33|0.021575059|73.4%

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 pjgl final 1 rs3738725
dbSNP Clinvar 		227174210 666.77 T C PASS 0/1 70 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.31390 0.31390 0.44218 None None None None None None ADCK3|0.102470418|50.69%
View pjgl final 1 rs12593
dbSNP Clinvar 		227172290 936.77 C T PASS 0/1 86 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 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 pjgl final 1 rs203849
dbSNP Clinvar 		167849414 733.77 A G PASS 0/1 62 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 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 pjgl final 4 rs283413
dbSNP Clinvar 		100268190 1049.77 A C PASS 1/1 36 STOP_LOST HIGH MISSENSE 0.99281 0.99280 0.00839 None None None None None None None

ADRBK1
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 pjgl final 11 rs2228418
dbSNP Clinvar 		67034266 21.77 C A PASS 1/1 2 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.64876 0.64880 0.25747 None None None None None None ADRBK1|0.645969984|10.23%

AGO2
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 pjgl final 8 rs2292781
dbSNP Clinvar 		141559358 2604.77 G A PASS 1/1 97 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.47244 0.47240 0.39734 None None None None None None AGO2|0.736134544|7.47%

AGXT
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 pjgl final 2 rs33958047
dbSNP Clinvar 		241813453 593.77 G A PASS 0/1 67 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.15316 0.15320 0.13171 None None None None None None AGXT|0.028700088|70.08%

AKR1C1
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 pjgl final 10 rs1138600
dbSNP Clinvar 		5010572 1285.77 A G VQSRTrancheSNP99.90to100.00 1/1 40 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.99720 0.99720 None None None None None None AKR1C1|0.0017482|91.68%

ALAD
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 pjgl final 9 rs1139488
dbSNP Clinvar 		116153900 574.77 A G PASS 0/1 51 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.35224 0.35220 0.35422 None None None None None None ALAD|0.24202063|32.28%

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 pjgl final 1 rs7550938
dbSNP Clinvar 		19202917 978.77 T C PASS 0/1 54 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.66094 0.66090 0.37698 None None None None None None ALDH4A1|0.121498662|47.22%
View pjgl final 1 rs2230709
dbSNP Clinvar 		19201928 473.77 C T PASS 0/1 31 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.04792 0.04792 0.11203 0.56 0.11 None None None None None None ALDH4A1|0.121498662|47.22%
View pjgl final 1 rs2230708
dbSNP Clinvar 		19201956 220.77 A G PASS 0/1 29 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.73722 0.73720 0.29779 None None None None None None ALDH4A1|0.121498662|47.22%

ALG9
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 pjgl final 11 rs10708475
dbSNP Clinvar 		111742145 1014.73 CG C PASS 1/1 26 FRAME_SHIFT HIGH 1.00000 1.00000 0.00040 None None None None None None ALG9|0.352156163|23.94%

ANKRD36
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 pjgl final 2 . 97851078 53.7 A AG PASS 1/1 2 FRAME_SHIFT HIGH None None None None None None ANKRD36|0.001192347|94.46%
View pjgl final 2 . 97851077 62.74 C G PASS 1/1 2 STOP_GAINED HIGH NONSENSE None None None None None None ANKRD36|0.001192347|94.46%
View pjgl final 2 . 97851073 53.7 GC G PASS 1/1 2 FRAME_SHIFT HIGH None None None None None None ANKRD36|0.001192347|94.46%

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 pjgl final 7 rs57543920
dbSNP Clinvar 		36552790 4489.73 G GT PASS 1/1 132 FRAME_SHIFT HIGH 0.87740 0.87740 None None None None None None AOAH|0.05743156|60.58%
View pjgl final 7 rs59476355
dbSNP Clinvar 		36552729 5222.73 A AT PASS 1/1 163 FRAME_SHIFT HIGH 0.99980 0.99980 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 pjgl final 5 rs41115
dbSNP Clinvar 		112175770 1536.77 G A PASS 0/1 105 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH 0.66554 0.66550 0.41378 None None None None None None APC|0.952088564|2.19%
View pjgl final 5 rs2229992
dbSNP Clinvar 		112162854 166.77 T C PASS 0/1 23 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.50998 0.51000 0.46217 None None None None None None APC|0.952088564|2.19%

AQP2
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 pjgl final 12 rs426496
dbSNP Clinvar 		50348078 389.77 T C PASS 1/1 14 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.66713 0.66710 0.30671 None None None None None None AQP2|0.155383896|42.24%

ASB10
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 pjgl final 7 rs759438517
dbSNP Clinvar 		150884266 59.73 CAG C PASS 0/1 30 FRAME_SHIFT HIGH None None None None None None ASB10|0.051312988|62.24%

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 pjgl final 2 rs11681642
dbSNP Clinvar 		71163086 221.77 T C PASS 0/1 21 START_LOST HIGH MISSENSE 0.36881 0.36880 0.41504 0.00 0.60 None None None None None None ATP6V1B1|0.123167959|46.96%

ATXN2
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 pjgl final 12 rs767766545
dbSNP Clinvar 		112036780 19.78 TG... T PASS 0/1 37 FRAME_SHIFT HIGH None None None None None None ATXN2|0.872313714|4.16%
View pjgl final 12 rs757862555
dbSNP Clinvar 		112036778 19.78 GC G PASS 0/1 37 FRAME_SHIFT HIGH None None None None None None ATXN2|0.872313714|4.16%

ATXN3
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 pjgl final 14 rs763461489
dbSNP Clinvar 		92537353 2454.73 C CG PASS 0/1 111 FRAME_SHIFT HIGH None None None None None None ATXN3|0.681306976|9.03%
View pjgl final 14 rs763541221
dbSNP Clinvar 		92537354 3770.73 C CC... PASS 1/2 108 FRAME_SHIFT HIGH None None None None None None ATXN3|0.681306976|9.03%

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 pjgl final 2 rs2070093
dbSNP Clinvar 		215632256 311.77 A G PASS 0/1 28 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.77057 0.77060 0.28618 None None None None None None BARD1|0.230178617|33.35%

BARHL2
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 pjgl final 1 . 91182602 42.7 GA G PASS 1/1 2 FRAME_SHIFT HIGH None None None None None None BARHL2|0.609319607|11.48%

BCR
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 pjgl final 22 rs372013175
dbSNP Clinvar 		23653975 118.73 T TCCGG PASS 0/1 69 FRAME_SHIFT HIGH None None None None None None BCR|0.805888971|5.65%

BTNL2
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 pjgl final 6 rs28362675
dbSNP Clinvar 		32362521 350.77 C A PASS 0/1 53 STOP_GAINED+SPLICE_SITE_REGION HIGH NONSENSE 0.04912 0.04912 0.00569 None None None None None None BTNL2|0.00846386|82.19%

C11orf58
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 pjgl final 11 . 16774439 21.77 G T PASS 1/1 2 STOP_GAINED+SPLICE_SITE_REGION HIGH NONSENSE None None None None None None C11orf58|0.733860325|7.53%

CA2
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 pjgl final 8 rs703
dbSNP Clinvar 		86389403 3897.77 T C PASS 1/1 127 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.57768 0.57770 0.35691 None None None None None None CA2|0.889108016|3.7%

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 pjgl final 11 rs497116
dbSNP Clinvar 		104763117 4580.77 G A PASS 1/1 153 STOP_GAINED HIGH NONSENSE 0.94848 0.94850 None None None None None None CASP12|0.001761043|91.65%

CBLB
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 pjgl final 3 rs2305035
dbSNP Clinvar 		105439026 1878.77 G A PASS 1/1 62 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.21006 0.21010 0.20429 None None None None None None CBLB|0.559095691|13.39%

CBR3
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 pjgl final 21 rs881712
dbSNP Clinvar 		37507769 915.77 C T PASS 1/1 28 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.30851 0.30850 0.33905 None None None None None None CBR3|0.052541759|61.89%
View pjgl final 21 rs881711
dbSNP Clinvar 		37507745 1125.77 C T PASS 1/1 35 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.82029 0.82030 0.15339 None None None None None None CBR3|0.052541759|61.89%

CBS
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 pjgl final 21 rs234706
dbSNP Clinvar 		44485350 2028.77 G A PASS 1/1 71 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.19649 0.19650 0.30609 None None None None None None CBS|0.170288794|40.28%

CCHCR1
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 pjgl final 6 rs3130453
dbSNP Clinvar 		31124849 1041.77 C T PASS 0/1 78 STOP_GAINED HIGH NONSENSE 0.46925 0.46920 0.48507 None None None None None None CCHCR1|0.032661886|68.3%

CCR5
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 pjgl final 3 . 46414943 2021.73 TA... T PASS 0/1 116 FRAME_SHIFT HIGH 0.02915 0.06043 None None None None None None CCR5|0.089540914|53.32%

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 pjgl final 2 rs11450450,rs397692276
dbSNP Clinvar 		71062833 2682.73 G GC PASS 1/1 72 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 1.00000 1.00000 0.00025 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 pjgl final 17 . 45214613 187.87 TA T PASS 1/1 5 FRAME_SHIFT HIGH None None None None None None CDC27|0.658499283|9.78%
View pjgl final 17 rs138264973
dbSNP Clinvar 		45214617 143.0 G GC PASS 1/1 4 FRAME_SHIFT HIGH None None None None None None CDC27|0.658499283|9.78%

CFTR
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 pjgl final 7 . 117188840 70.73 AGTT A PASS 0/1 67 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None CFTR|0.947527653|2.33%
View pjgl final 7 rs79074685
dbSNP Clinvar 		117188850 338.77 G T PASS 0/1 62 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.00100 None None None None None None CFTR|0.947527653|2.33%

CHI3L1
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 pjgl final 1 rs4950927
dbSNP Clinvar 		203148633 1402.77 A G PASS 1/1 56 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.99960 0.99960 0.00185 None None None None None None CHI3L1|0.048433283|63.15%
View pjgl final 1 rs880633
dbSNP Clinvar 		203152801 516.77 T C PASS 0/1 43 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.37300 0.37300 0.41442 0.00 0.31 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 pjgl final 1 rs2494007
dbSNP Clinvar 		111783996 741.77 A G PASS 1/1 24 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 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 pjgl final 1 rs2275253
dbSNP Clinvar 		111861841 563.77 A G PASS 0/1 52 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.65915 0.65910 0.27764 0.99 0.00 None None None None None None CHIA|0.03435619|67.66%

CHIT1
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 pjgl final 1 rs150192398
dbSNP Clinvar 		203186950 463.73 C CA... PASS 0/1 23 STOP_GAINED+CODON_INSERTION HIGH 0.28914 0.28910 None None None None None None CHIT1|0.011029404|80.05%

CHRFAM7A
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 pjgl final 15 rs201490160
dbSNP Clinvar 		30665280 735.73 TCA T PASS 0/1 87 FRAME_SHIFT HIGH 0.38698 0.38700 0.34599 None None None None None None CHRFAM7A|0.105656151|50.1%

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 pjgl final 3 rs368234054
dbSNP Clinvar 		190106071 4268.73 AG A PASS 0/1 222 FRAME_SHIFT HIGH 0.11701 0.11700 None None None None None None CLDN16|0.053365905|61.68%

CLTCL1
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 pjgl final 22 rs11386977
dbSNP Clinvar 		19189003 3471.73 A AC PASS 1/1 95 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 0.99980 0.99980 0.00051 None None None None None None CLTCL1|0.022666116|72.86%

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 pjgl final 22 rs740602
dbSNP Clinvar 		19950268 3092.77 G A PASS 0/1 245 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.05990 0.05990 0.06374 None None None None None None COMT|0.166055932|40.8%
View pjgl final 22 rs4680
dbSNP Clinvar 		19951271 450.77 G A PASS 0/1 54 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.36921 0.36920 0.45148 0.09 0.08 None None None None None None COMT|0.166055932|40.8%
View pjgl final 22 rs4633
dbSNP Clinvar 		19950235 2138.77 C T PASS 0/1 221 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.37161 0.37160 0.46009 None None None None None None COMT|0.166055932|40.8%

CPB2
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 pjgl final 13 rs9316179
dbSNP Clinvar 		46641466 353.77 A G PASS 0/1 43 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.30751 0.30750 0.34553 None None None None None None CPB2|0.106282021|49.92%

CPN2
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 pjgl final 3 rs4974539
dbSNP Clinvar 		194061907 62.74 G A PASS 1/1 2 STOP_GAINED HIGH NONSENSE 0.28015 0.28020 0.34453 None None None None None None CPN2|0.013888065|77.95%

CPOX
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 pjgl final 3 rs1729995
dbSNP Clinvar 		98304467 2571.77 T C PASS 1/1 81 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.75399 0.75400 0.25611 None None None None None None CPOX|0.108402411|49.49%

CRYBA4
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 pjgl final 22 rs5761637
dbSNP Clinvar 		27021457 3650.77 T C PASS 1/1 119 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.92372 0.92370 0.12663 None None None None None None CRYBA4|0.095204311|52.06%
View pjgl final 22 rs35520672
dbSNP Clinvar 		27019264 766.77 G A PASS 0/1 83 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.00899 0.00899 0.01938 0.00 0.90 None None None None None None CRYBA4|0.095204311|52.06%

CRYM
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 pjgl final 16 rs14122
dbSNP Clinvar 		21272591 1957.77 G C PASS 1/1 75 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.50260 0.50260 0.46853 None None None None None None CRYM|0.245016591|32%

CSF1R
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 pjgl final 5 rs10079250
dbSNP Clinvar 		149450132 461.77 T C PASS 0/1 31 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.15336 0.15340 0.07377 0.02 0.07 None None None None None None CSF1R|0.136347301|44.94%

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 pjgl final 8 rs4538
dbSNP Clinvar 		143994702 779.77 G T PASS 0/1 49 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.60763 0.60760 0.46585 None None None None None None GML|0.000127964|99.9%,CYP11B2|0.013075672|78.46%
View pjgl final 8 rs4539
dbSNP Clinvar 		143996539 1033.77 T C PASS 0/1 79 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 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%

CYP2A13
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 pjgl final 19 rs138627841
dbSNP Clinvar 		41594916 623.77 A G PASS 0/1 95 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.00040 0.00040 0.21 0.41 None None None None None None CYP2A13|0.03541962|67.35%

CYP2R1
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 pjgl final 11 rs12794714
dbSNP Clinvar 		14913575 1921.77 G A PASS 1/1 63 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.34924 0.34920 0.34162 None None None None None None CYP2R1|0.406542646|20.4%

DBI
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 pjgl final 2 rs3731608
dbSNP Clinvar 		120125053 157.77 C G PASS 0/1 13 STOP_GAINED HIGH NONSENSE 0.16034 0.16030 None None None None None None DBI|0.035649756|67.26%

DDR1
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 pjgl final 6 rs2229933
dbSNP Clinvar 		30857072 979.77 G C PASS 0/1 82 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.41534 0.41530 0.20763 None None None None None None DDR1|0.244168042|32.07%
View pjgl final 6 rs1049622
dbSNP Clinvar 		30858857 1522.77 C T PASS 0/1 147 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.41554 0.41550 0.20802 None None None None None None DDR1|0.244168042|32.07%

DEFB126
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 pjgl final 20 rs11467417,rs386393058
dbSNP Clinvar 		126310 1028.73 ACC A PASS 0/1 81 FRAME_SHIFT HIGH 0.43378 None None None None None None DEFB126|0.000084056|99.96%

DOC2A
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 pjgl final 16 rs3935873
dbSNP Clinvar 		30018500 680.77 C T PASS 0/1 43 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.34924 0.34920 0.35378 None None None None None None DOC2A|0.171287432|40.14%

DPP6
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 pjgl final 7 rs3807218
dbSNP Clinvar 		154461112 874.77 A G PASS 1/1 30 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.79732 0.79730 0.16409 None None None None None None DPP6|0.155216903|42.27%

DPYSL2
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 pjgl final 8 rs327222
dbSNP Clinvar 		26481771 3843.77 T C PASS 1/1 138 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.93670 0.93670 0.04006 None None None None None None DPYSL2|0.481859756|16.66%

DUOX2
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 pjgl final 15 rs567500345
dbSNP Clinvar 		45403694 34.73 T TC PASS 0/1 7 FRAME_SHIFT HIGH 0.00060 0.00060 0.00233 None None None None None None DUOX2|0.097866177|51.55%

E2F8
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 pjgl final 11 . 19258870 21.77 C A PASS 1/1 2 STOP_GAINED HIGH NONSENSE None None None None None None E2F8|0.285797306|28.67%

EGFR
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 pjgl final 7 rs1050171
dbSNP Clinvar 		55249063 379.77 G A PASS 0/1 35 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.43271 0.43270 0.45756 None None None None None None EGFR|0.999639222|0.3%

EMG1
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 pjgl final 12 rs60117710
dbSNP Clinvar 		7080210 3303.73 A AG PASS 1/1 74 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 1.00000 1.00000 0.00395 None None None None None None EMG1|0.122491052|47.03%

EP400
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 pjgl final 12 rs60930033
dbSNP Clinvar 		132547089 1003.73 A AGC PASS 0/1 102 FRAME_SHIFT HIGH None None None None None None EP400|0.051215115|62.27%
View pjgl final 12 rs775177440
dbSNP Clinvar 		132547090 3562.73 A AG PASS 0/1 150 FRAME_SHIFT HIGH None None None None None None EP400|0.051215115|62.27%

EPHA2
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 pjgl final 1 rs6678618
dbSNP Clinvar 		16475126 280.77 C T PASS 0/1 28 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.22664 0.22660 0.28487 None None None None None None EPHA2|0.768915771|6.62%
View pjgl final 1 rs2230597
dbSNP Clinvar 		16464673 126.77 G A PASS 0/1 12 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.34944 0.34940 0.38879 None None None None None None EPHA2|0.768915771|6.62%
View pjgl final 1 rs6678616
dbSNP Clinvar 		16475123 283.77 C T PASS 0/1 24 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.22644 0.22640 0.28495 None None None None None None EPHA2|0.768915771|6.62%

EPHX2
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 pjgl final 8 rs145061702
dbSNP Clinvar 		27401277 410.77 G A PASS 0/1 36 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.00023 None None None None None None EPHX2|0.350156856|24.1%
View pjgl final 8 rs13439459
dbSNP Clinvar 		27394366 325.77 C T PASS 0/1 49 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.06270 0.06270 0.09480 None None None None None None EPHX2|0.350156856|24.1%
View pjgl final 8 rs41507953
dbSNP Clinvar 		27358505 1470.77 A G PASS 0/1 107 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.10064 0.10060 0.14255 1.00 0.00 None None None None None None EPHX2|0.350156856|24.1%

ERAP1
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 pjgl final 5 rs30187
dbSNP Clinvar 		96124330 1902.77 T C PASS 1/1 67 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.59625 0.59620 0.37244 0.05 0.97 None None None None None None ERAP1|0.109230521|49.33%

ERAP2
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 pjgl final 5 rs2549782
dbSNP Clinvar 		96231000 650.77 G T PASS 0/1 41 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.55272 0.55270 0.45902 1.00 0.00 None None None None None None ERAP2|0.036210068|67.06%
View pjgl final 5 rs41506651
dbSNP Clinvar 		96215680 2229.77 C T PASS 0/1 200 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.04872 0.04872 0.07966 None None None None None None ERAP2|0.036210068|67.06%

ERCC1
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 pjgl final 19 rs11615
dbSNP Clinvar 		45923653 1711.77 A G PASS 1/1 63 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.66893 0.66890 0.45994 None None None None None None ERCC1|0.17437384|39.74%