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+ Genes 211

+ Genes associated with diseases 77

Genes at Omim

ACADS, ACTN4, ACVR1, ADA, ADAMTS13, ADCK3, ADCY10, ALAD, ALDH4A1, APC, AQP2, B4GALT7, BARD1, BTK, CA2, CAMK2B, CAT, CENPE, CHI3L1, COMT, CRYBA4, CRYM, CYP11B2, CYP21A2, CYP2B6, CYP2C8, CYP2D6, DPP6, DSP, EGFR, EPHA2, FAN1, FDFT1, FGFR2, FUT8, GALNS, GBE1, HAAO, HBB, HGF, INPP5E, ISG15, KDR, KLHL3, KRAS, LRP6, MASP1, MAT1A, MEFV, MTAP, MYOC, NEK2, NLRP1, NT5E, NTRK1, OAT, P4HB, PADI4, PCK1, PCSK9, PDE10A, PGR, PIK3CA, PLA2G7, PNP, PNPT1, PRNP, PSPH, RIPK1, ROR2, SGPL1, SNRNP200, TPH2, TRPV4, USB1, VWF, WARS,
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (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)
ALAD {Lead poisoning, susceptibility to}, 612740 (3)
Porphyria, acute hepatic, 612740 (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)
AQP2 Diabetes insipidus, nephrogenic, 125800 (3)
B4GALT7 Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070 (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)
CAMK2B Mental retardation, autosomal dominant 54, 617799 (3)
CAT Acatalasemia, 614097 (3)
CENPE ?Microcephaly 13, primary, autosomal recessive, 616051 (3)
CHI3L1 {Schizophrenia, susceptibility to}, 181500 (3)
{Asthma-related traits, susceptibility to, 7}, 611960 (3)
COMT {Panic disorder, susceptibility to}, 167870 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
CRYBA4 Cataract 23, 610425 (3)
CRYM Deafness, autosomal dominant 40, 616357 (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)
CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3)
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3)
CYP2B6 Efavirenz, poor metabolism of, 614546 (3)
{Efavirenz central nervous system toxicity, susceptibility to}, 614546 (3)
CYP2C8 {Drug metabolism, altered, CYP2C8-related}, 618018 (3)
CYP2D6 {Codeine sensitivity}, 608902 (3)
{Debrisoquine sensitivity}, 608902 (3)
DPP6 {Ventricular fibrillation, paroxysmal familial, 2}, 612956 (3)
Mental retardation, autosomal dominant 33, 616311 (3)
DSP Arrhythmogenic right ventricular dysplasia 8, 607450 (3)
Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3)
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3)
Epidermolysis bullosa, lethal acantholytic, 609638 (3)
Keratosis palmoplantaris striata II, 612908 (3)
Skin fragility-woolly hair syndrome, 607655 (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)
EPHA2 Cataract 6, multiple types, 116600 (3)
FAN1 Interstitial nephritis, karyomegalic, 614817 (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)
FUT8 Congenital disorder of glycosylation with defective fucosylation 1, 618005 (3)
GALNS Mucopolysaccharidosis IVA, 253000 (3)
GBE1 Glycogen storage disease IV, 232500 (3)
Polyglucosan body disease, adult form, 263570 (3)
HAAO Vertebral, cardiac, renal, and limb defects syndrome 1, 617660 (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)
INPP5E Joubert syndrome 1, 213300 (3)
Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3)
ISG15 Immunodeficiency 38, 616126 (3)
KDR {Hemangioma, capillary infantile, susceptibility to}, 602089 (3)
Hemangioma, capillary infantile, somatic, 602089 (3)
KLHL3 Pseudohypoaldosteronism, type IID, 614495 (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)
LRP6 Tooth agenesis, selective, 7, 616724 (3)
{Coronary artery disease, autosomal dominant, 2}, 610947 (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)
MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250 (3)
MYOC Glaucoma 1A, primary open angle, 137750 (3)
NEK2 ?Retinitis pigmentosa 67, 615565 (3)
NLRP1 Autoinflammation with arthritis and dyskeratosis, 617388 (3)
{Vitiligo-associated multiple autoimmune disease susceptibility 1}, 606579 (3)
Palmoplantar carcinoma, multiple self-healing, 615225 (3)
NT5E Calcification of joints and arteries, 211800 (3)
NTRK1 Insensitivity to pain, congenital, with anhidrosis, 256800 (3)
Medullary thyroid carcinoma, familial, 155240 (3)
OAT Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 (3)
P4HB Cole-Carpenter syndrome 1, 112240 (3)
PADI4 {Rheumatoid arthritis, susceptibility to}, 180300 (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)
PGR ?Progesterone resistance, 264080 (2)
PIK3CA CLAPO syndrome, somatic, 613089 (3)
CLOVE syndrome, somatic, 612918 (3)
Gastric cancer, somatic, 613659 (3)
Breast cancer, somatic, 114480 (3)
Hepatocellular carcinoma, somatic, 114550 (3)
Colorectal cancer, somatic, 114500 (3)
Cowden syndrome 5, 615108 (3)
Keratosis, seborrheic, somatic, 182000 (3)
Macrodactyly, somatic, 155500 (3)
Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501 (3)
Nevus, epidermal, somatic, 162900 (3)
Nonsmall cell lung cancer, somatic, 211980 (3)
Ovarian cancer, somatic, 167000 (3)
PLA2G7 Platelet-activating factor acetylhydrolase deficiency, 614278 (3)
{Asthma, susceptibility to}, 600807 (3)
{Atopy, susceptibility to}, 147050 (3)
PNP Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3)
PNPT1 Combined oxidative phosphorylation deficiency 13, 614932 (3)
Deafness, autosomal recessive 70, 614934 (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)
PSPH Phosphoserine phosphatase deficiency, 614023 (3)
RIPK1 Immunodeficiency 57, 618108 (3)
ROR2 Brachydactyly, type B1, 113000 (3)
Robinow syndrome, autosomal recessive, 268310 (3)
SGPL1 Nephrotic syndrome, type 14, 617575 (3)
SNRNP200 Retinitis pigmentosa 33, 610359 (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)
USB1 Poikiloderma with neutropenia, 604173 (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)

Genes at Clinical Genomics Database

ACADS, ACTN4, ACVR1, ADA, ADAMTS13, ADCK3, ALAD, ALDH4A1, APC, AQP2, B4GALT7, BARD1, BTK, CA2, CAT, CENPE, COMT, CRYBA4, CRYM, CYP11B2, CYP21A2, CYP2B6, CYP2C8, CYP2D6, DPP6, DSP, EGFR, EIF4A3, EPHA2, FAN1, FGFR2, GALNS, GBE1, HBB, HGF, INPP5E, ISG15, KLHL3, KRAS, KRIT1, LRP6, MASP1, MAT1A, MEFV, MTAP, MYOC, NEK2, NLRP1, NT5E, NTRK1, OAT, P4HB, PCSK9, PDE10A, PIK3CA, PLA2G7, PNP, PNPT1, PRNP, PSPH, ROR2, SNRNP200, TRPV4, USB1, VWF,
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of
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
ALAD Porphyria, acute hepatic
ALDH4A1 Hyperprolinemia, type II
APC Familial adenomatous polyposis
Gardner syndrome
Desmoid disease, hereditary
AQP2 Diabetes insipidus, nephrogenic, autosomal
B4GALT7 Ehlers-Danlos syndrome with short stature and limb anomalies
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
CAT Acatalasemia
CENPE Microcephaly 13, primary, autosomal recessive
COMT Medication response, association with
CRYBA4 Cataract 23
CRYM Deafness, autosomal dominant 40
CYP11B2 Corticosterone methyloxidase type I deficiency
Corticosterone methyloxidase type II deficiency
Glucocorticoid-remediable aldosteronism
CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
CYP2B6 Efavirenz, poor metabolism of
CYP2C8 Rhabdomyolysis, cerivastatin-induced
CYP2D6 Drug metabolism, CYP2CD6-related
DPP6 Ventricular fibrillation, paroxysmal familial, 2
DSP Arrhythmogenic right ventricular dysplasia, familial 8
Cardiomyopathy, dilated, with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
EGFR Acute myeloid leukemia, familial
Lung cancer, familial, susceptibilty to
Inflammatory skin and bowel disease, neonatal, 2
EIF4A3 Richieri-Costa-Pereira Syndrome
EPHA2 Cataract 6, multiple types
FAN1 Interstitial nephritis, karyomegalic
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
GALNS Mucopolysaccharidosis IVA (Morquio syndrome A)
GBE1 Glycogen storage disease IV
HBB Beta-thalassemia
Sickle cell disease
Thalassemia-beta, dominant inclusion body
Other Thalassemias/Hemoglobinopathies
HGF Deafness, autosomal recessive 39
INPP5E Joubert syndrome 1
Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome)
ISG15 Immunodeficiency 38, with basal ganglia calcification
KLHL3 Pseudohypoaldosteronism, type IID
KRAS Noonan syndrome
Cardiofaciocutaneous syndrome
KRIT1 Cerebral cavernous malformations 1
LRP6 Coronary artery disease, autosomal dominant 2
MASP1 3MC syndrome 1
MAT1A Methionine adenosyltransferase deficiency
MEFV Familial Mediterranean fever
MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma
MYOC Glaucoma, primary open angle
NEK2 Retinitis pigmentosa 67
NLRP1 Corneal intraepithelial dyskeratosis and ectodermal dysplasia
NT5E Calcification of joints and arteries
NTRK1 Insensitivity to pain, congenital, with anhidrosis
OAT Gyrate atrophy of choroid and retina
P4HB Cole Carpenter syndrome 1
PCSK9 Hypercholesterolemia, familial, 3
PDE10A Striatal degeneration, autosomal dominant 2
Infantile-onset dyskinesia
PIK3CA Cowden syndrome 5
PLA2G7 Platelet-activating factor acetylhydrolase deficiency
PNP Purine nucleoside phosphorylase deficiency
PNPT1 Deafness, autosomal recessive 70
PRNP Spongiform encephalopathy with neuropsychiatric features
Huntington disease-like 1
Gerstmann-Straussler disease
Creutzfeldt-Jakob disease
Insomnia, fatal familial
Dementia, Lewy body
PSPH Phosphoserine phosphatase deficiency
ROR2 Robinow syndrome, autosomal recessive
Brachydactyly, type B1
SNRNP200 Retinitis pigmentosa 33
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
USB1 Poikiloderma with neutropenia
VWF von Willebrand disease, type 1
von Willebrand disease, type 2A
von Willebrand disease, type 3

Genes at HGMD

Summary

Number of Variants: 245
Number of Genes: 211

Export to: CSV

ACACB
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 mr50 2 12 rs11065772
dbSNP Clinvar 		109617865 58.9 T C PASS 1/1 66 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.67732 0.67730 0.25996 None None None None None None ACACB|0.108212697|49.54%
View mr50 2 12 rs2300455
dbSNP Clinvar 		109623516 150.0 G A PASS 0/1 302 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.15955 0.15950 0.14624 0.04 1.00 None None None None None None ACACB|0.108212697|49.54%

ACADS
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 mr50 2 12 rs3914
dbSNP Clinvar 		121174899 66.4 T C PASS 1/1 393 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.59066 0.59070 0.49323 None None None None None None ACADS|0.070436549|57.39%

ACLY
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 mr50 2 17 rs8065502
dbSNP Clinvar 		40048613 66.2 A G PASS 1/1 232 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mr50 2 16 rs1700805
dbSNP Clinvar 		20488696 49.3 A G PASS 1/1 158 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.48482 0.48480 0.35969 None None None None None None ACSM2A|0.005190474|85.6%

ACTN4
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 mr50 2 19 rs3745859
dbSNP Clinvar 		39196745 72.6 C T PASS 0/1 366 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mr50 2 3 rs4687757
dbSNP Clinvar 		53906513 61.4 G A PASS 1/1 130 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mr50 2 2 rs1146031
dbSNP Clinvar 		158626980 58.5 C T PASS 1/1 168 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mr50 2 20 rs394105
dbSNP Clinvar 		43264927 57.1 C T PASS 1/1 154 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.98223 0.98220 0.01538 None None None None None None ADA|0.574821556|12.82%
View mr50 2 20 rs244076
dbSNP Clinvar 		43252915 62.0 T C PASS 0/1 209 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mr50 2 10 rs1131720
dbSNP Clinvar 		135085321 68.1 C T PASS 1/1 329 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mr50 2 9 rs3124768
dbSNP Clinvar 		136304497 150.0 A G PASS 0/1 276 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mr50 2 1 rs3738725
dbSNP Clinvar 		227174210 150.0 T C PASS 0/1 571 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.31390 0.31390 0.44218 None None None None None None ADCK3|0.102470418|50.69%

ADCY10
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 mr50 2 1 rs203849
dbSNP Clinvar 		167849414 66.3 A G PASS 0/1 206 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.49321 0.49320 0.46570 None None None None None None ADCY10|0.02878338|70.03%

ADRBK1
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 mr50 2 11 rs2228418
dbSNP Clinvar 		67034266 59.0 C A PASS 1/1 139 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mr50 2 8 rs2292781
dbSNP Clinvar 		141559358 69.1 G A PASS 0/1 427 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.47244 0.47240 0.39734 None None None None None None AGO2|0.736134544|7.47%

AKR1B10
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 mr50 2 7 rs28545160
dbSNP Clinvar 		134221826 64.4 A G PASS 1/1 54 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None AKR1B10|0.014962544|77.15%

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 mr50 2 10 rs1138600
dbSNP Clinvar 		5010572 66.4 A G PASS 1/1 59 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 mr50 2 9 rs1139488
dbSNP Clinvar 		116153900 150.0 A G PASS 0/1 537 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 mr50 2 1 rs7550938
dbSNP Clinvar 		19202917 65.8 T C PASS 1/1 210 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.66094 0.66090 0.37698 None None None None None None ALDH4A1|0.121498662|47.22%
View mr50 2 1 rs2230708
dbSNP Clinvar 		19201956 61.3 A G PASS 1/1 328 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.73722 0.73720 0.29779 None None None None None None ALDH4A1|0.121498662|47.22%
View mr50 2 1 rs2230705
dbSNP Clinvar 		19203997 65.6 C G PASS 1/1 314 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.64157 0.64160 0.28846 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 mr50 2 11 rs1048928
dbSNP Clinvar 		43940644 64.5 G T PASS 1/1 208 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 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 mr50 2 17 rs6503070
dbSNP Clinvar 		7948175 62.7 C T PASS 1/1 176 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.59724 0.59720 0.44572 None None None None None None ALOX15B|0.008183706|82.49%

ANPEP
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 mr50 2 15 rs25651
dbSNP Clinvar 		90335788 67.8 C T PASS 0/1 334 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.35064 0.35060 0.37537 1.00 0.00 None None None None None None ANPEP|0.009750059|81.03%
View mr50 2 15 rs1143654
dbSNP Clinvar 		90342771 69.2 G A PASS 0/1 520 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.00060 0.00060 0.00023 None None None None None None ANPEP|0.009750059|81.03%
View mr50 2 15 rs555461349
dbSNP Clinvar 		90347000 150.0 C T PASS 0/1 750 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.00260 0.00260 0.04 0.52 None None None None None None ANPEP|0.009750059|81.03%

AP1G2
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 mr50 2 14 rs375486046
dbSNP Clinvar 		24029157 72.3 T C PASS 0/1 176 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.00008 0.14 0.71 None None None None None None THTPA|0.110748045|49.05%,AP1G2|0.168221463|40.55%

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 mr50 2 5 rs2229992
dbSNP Clinvar 		112162854 150.0 T C PASS 0/1 155 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.50998 0.51000 0.46217 None None None None None None APC|0.952088564|2.19%

APOBEC2
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 mr50 2 6 rs2073014
dbSNP Clinvar 		41029109 150.0 T C PASS 0/1 383 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.18431 0.18430 0.15839 None None None None None None OARD1|0.582190497|12.48%,APOBEC2|0.303648666|27.39%

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 mr50 2 12 rs426496
dbSNP Clinvar 		50348078 61.7 T C PASS 1/1 378 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.66713 0.66710 0.30671 None None None None None None AQP2|0.155383896|42.24%

AQR
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 mr50 2 15 rs80093103
dbSNP Clinvar 		35198879 67.2 G A PASS 1/1 95 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.04692 0.04692 0.06536 None None None None None None AQR|0.159778967|41.59%

B4GALT7
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 mr50 2 5 rs763167963
dbSNP Clinvar 		177031380 150.0 G C PASS 0/1 343 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.41 0.03 None None None None None None B4GALT7|0.160454345|41.46%

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 mr50 2 2 rs2070093
dbSNP Clinvar 		215632256 60.5 A G PASS 1/1 131 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.77057 0.77060 0.28618 None None None None None None BARD1|0.230178617|33.35%

BHMT
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 mr50 2 5 rs60340837
dbSNP Clinvar 		78423621 69.7 C T PASS 0/1 122 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.04253 0.04253 0.01138 None None None None None None DMGDH|0.169846291|40.33%,BHMT|0.106798256|49.84%

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 mr50 2 X rs1135363
dbSNP Clinvar 		100608191 58.8 G A PASS 1/1 48 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.50808 0.50810 0.39042 None None None None None None BTK|0.867331978|4.3%

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 mr50 2 8 rs703
dbSNP Clinvar 		86389403 72.5 T C PASS 0/1 357 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.57768 0.57770 0.35691 None None None None None None CA2|0.889108016|3.7%

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 mr50 2 7 rs11542228
dbSNP Clinvar 		44282868 58.2 A G PASS 1/1 176 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.33566 0.33570 0.39905 None None None None None None CAMK2B|0.490715837|16.28%
View mr50 2 7 rs11542227
dbSNP Clinvar 		44282877 65.3 A G PASS 1/1 195 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.20986 0.20990 0.28149 None None None None None None CAMK2B|0.490715837|16.28%

CAPN2
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 mr50 2 1 rs17598
dbSNP Clinvar 		223933079 64.2 C T PASS 0/1 266 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.27516 0.27520 0.24166 None None None None None None CAPN2|0.174674652|39.7%

CAT
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 mr50 2 11 rs769217
dbSNP Clinvar 		34482908 59.4 C T PASS 0/1 293 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.26278 0.26280 0.21123 None None None None None None CAT|0.949304275|2.27%

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 mr50 2 3 rs2305035
dbSNP Clinvar 		105439026 150.0 G A PASS 0/1 131 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 mr50 2 21 rs17849671
dbSNP Clinvar 		37518582 63.5 G A PASS 0/1 385 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.02196 0.02196 0.04037 None None None None None None CBR3|0.052541759|61.89%
View mr50 2 21 rs881711
dbSNP Clinvar 		37507745 62.6 C T PASS 1/1 522 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.82029 0.82030 0.15339 None None None None None None CBR3|0.052541759|61.89%

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 mr50 2 5 rs1697144
dbSNP Clinvar 		66480004 59.8 T C PASS 1/1 176 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.99501 0.99500 0.00008 0.57 0.00 None None None None None None CD180|0.02755401|70.63%

CENPE
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 mr50 2 4 rs17217250
dbSNP Clinvar 		104102563 66.7 T C PASS 0/1 87 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.11961 0.11960 0.15567 None None None None None None CENPE|0.108588521|49.44%
View mr50 2 4 rs2290943
dbSNP Clinvar 		104117191 150.0 A G PASS 0/1 187 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.11981 0.11980 0.15585 None None None None None None CENPE|0.108588521|49.44%

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 mr50 2 1 rs4950927
dbSNP Clinvar 		203148633 57.4 A G PASS 1/1 190 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 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 mr50 2 1 rs2494007
dbSNP Clinvar 		111783996 60.0 A G PASS 1/1 349 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.99940 0.99940 0.00062 None None None None None None CHI3L2|0.012602272|78.81%
View mr50 2 1 rs13721
dbSNP Clinvar 		111783982 150.0 C T PASS 0/1 318 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.10883 0.19030 1.00 1.00 None None None None None None CHI3L2|0.012602272|78.81%
View mr50 2 1 rs11556868
dbSNP Clinvar 		111778325 71.5 C T PASS 0/1 145 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.07268 0.07268 0.09780 0.03 0.90 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 mr50 2 1 rs2275253
dbSNP Clinvar 		111861841 64.2 A G PASS 1/1 176 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%

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 mr50 2 14 rs1136165
dbSNP Clinvar 		103988180 150.0 G T PASS 0/1 144 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.65775 0.65770 0.36631 None None None None None None CKB|0.155239483|42.26%
View mr50 2 14 rs1803283
dbSNP Clinvar 		103986255 75.2 C T PASS 0/1 311 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.63898 0.63900 0.41609 None None None None None None CKB|0.155239483|42.26%

CLASP1
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 mr50 2 2 rs2304560
dbSNP Clinvar 		122216419 68.3 A G PASS 0/1 154 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.25499 0.25500 0.20388 None None None None None None CLASP1|0.440226121|18.65%

CLC
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 mr50 2 19 rs384138
dbSNP Clinvar 		40224986 64.5 A G PASS 1/1 314 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.60923 0.60920 0.30071 None None None None None None CLC|0.000863861|96.26%

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 mr50 2 16 rs11540994
dbSNP Clinvar 		58575489 69.8 G A PASS 1/1 153 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.48522 0.48520 0.39812 None None None None None None CNOT1|0.849359651|4.66%

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 mr50 2 22 rs4818
dbSNP Clinvar 		19951207 63.9 C G PASS 1/1 423 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.29693 0.29690 0.32754 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 mr50 2 13 rs9316179
dbSNP Clinvar 		46641466 67.5 A G PASS 0/1 150 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.30751 0.30750 0.34553 None None None None None None CPB2|0.106282021|49.92%

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 mr50 2 22 rs5761637
dbSNP Clinvar 		27021457 150.0 T C PASS 0/1 619 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.92372 0.92370 0.12663 None None None None None None CRYBA4|0.095204311|52.06%

CRYL1
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 mr50 2 13 rs14236
dbSNP Clinvar 		21063524 70.5 A G PASS 0/1 222 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.27037 0.27040 0.29022 None None None None None None CRYL1|0.031917441|68.66%

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 mr50 2 16 rs14122
dbSNP Clinvar 		21272591 64.9 G C PASS 1/1 87 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.50260 0.50260 0.46853 None None None None None None CRYM|0.245016591|32%

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 mr50 2 8 rs4539
dbSNP Clinvar 		143996539 150.0 T C PASS 0/1 730 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%
View mr50 2 8 rs61757295
dbSNP Clinvar 		143994279 150.0 A G PASS 0/1 296 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.03994 0.03994 None None None None None None GML|0.000127964|99.9%,CYP11B2|0.013075672|78.46%
View mr50 2 8 rs4538
dbSNP Clinvar 		143994702 67.0 G T PASS 1/1 228 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%

CYP1A1
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 mr50 2 15 rs56343424
dbSNP Clinvar 		75012837 150.0 C A PASS 0/1 239 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.00479 0.00479 0.00 0.83 None None None None None None CYP1A1|0.242980721|32.19%

CYP21A2
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 mr50 2 6 rs6464
dbSNP Clinvar 		32006337 72.2 C A PASS 0/1 442 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None CYP21A2|0.039907204|65.79%

CYP2B6
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 mr50 2 19 rs3745274
dbSNP Clinvar 		41512841 150.0 G T PASS 0/1 125 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.31570 0.31570 0.29040 0.37 0.00 None None None None None None CYP2B6|0.387124666|21.59%

CYP2C8
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 mr50 2 10 rs11188150
dbSNP Clinvar 		96802737 150.0 G A PASS 0/1 508 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.00978 0.00978 0.00323 None None None None None None CYP2C8|0.004045398|86.94%

CYP2D6
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 mr50 2 22 rs28371732
dbSNP Clinvar 		42522965 71.3 C T PASS 0/1 158 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.00220 0.00220 0.00386 None None None None None None CYP2D6|0.040319287|65.66%

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 mr50 2 7 rs2301910
dbSNP Clinvar 		6204999 67.3 A C PASS 0/1 279 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.79513 0.79510 0.25331 None None None None None None CYTH3|0.105093333|50.21%

DDR1
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 mr50 2 6 rs2229933
dbSNP Clinvar 		30857072 55.1 G C PASS 0/1 168 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.41534 0.41530 0.20763 None None None None None None DDR1|0.244168042|32.07%
View mr50 2 6 rs1049622
dbSNP Clinvar 		30858857 150.0 C T PASS 0/1 318 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.41554 0.41550 0.20802 None None None None None None DDR1|0.244168042|32.07%

DLG1
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 mr50 2 3 rs1134986
dbSNP Clinvar 		196865242 66.8 C T PASS 0/1 102 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.12800 0.12800 0.10597 0.18 0.96 None None None None None None DLG1|0.817144992|5.37%

DOC2A
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 mr50 2 16 rs3935873
dbSNP Clinvar 		30018500 150.0 C T PASS 0/1 280 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mr50 2 7 rs3807218
dbSNP Clinvar 		154461112 60.8 A G PASS 1/1 122 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mr50 2 8 rs327222
dbSNP Clinvar 		26481771 61.9 T C PASS 1/1 388 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.93670 0.93670 0.04006 None None None None None None DPYSL2|0.481859756|16.66%

DSP
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 mr50 2 6 rs2076300
dbSNP Clinvar 		7584617 66.4 C T PASS 0/1 153 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.21166 0.21170 0.30225 None None None None None None DSP|0.573194355|12.87%

DUSP12
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 mr50 2 1 rs1063178
dbSNP Clinvar 		161721707 150.0 C T PASS 0/1 184 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.36002 0.36000 0.35399 None None None None None None DUSP12|0.090238655|53.19%

DUSP5
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 mr50 2 10 rs1889567
dbSNP Clinvar 		112266771 69.7 C T PASS 0/1 345 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.28355 0.28350 0.31355 None None None None None None DUSP5|0.355332181|23.78%

EBF1
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 mr50 2 5 rs1368298
dbSNP Clinvar 		158204425 64.8 A G PASS 0/1 81 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.59345 0.59350 0.43703 None None None None None None EBF1|0.999818623|0.23%

ECHDC3
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 mr50 2 10 rs7899215
dbSNP Clinvar 		11797436 65.3 T C PASS 1/1 781 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.93131 0.93130 0.06366 None None None None None None ECHDC3|0.029496468|69.61%

EGFR
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 mr50 2 7 rs1050171
dbSNP Clinvar 		55249063 68.6 G A PASS 0/1 318 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.43271 0.43270 0.45756 None None None None None None EGFR|0.999639222|0.3%

EIF4A3
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 mr50 2 17 rs2241886
dbSNP Clinvar 		78113832 67.6 G A PASS 0/1 193 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.12979 0.12980 0.14962 None None None None None None EIF4A3|0.250119877|31.52%

ENPP4
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 mr50 2 6 rs7451713
dbSNP Clinvar 		46107752 150.0 C G PASS 0/1 244 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.45168 0.45170 0.43957 0.12 0.09 None None None None None None ENPP4|0.141883971|44.16%

EPHA2
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 mr50 2 1 rs2230597
dbSNP Clinvar 		16464673 59.8 G A PASS 0/1 378 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.34944 0.34940 0.38879 None None None None None None EPHA2|0.768915771|6.62%

EPHB3
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 mr50 2 3 rs13069661
dbSNP Clinvar 		184289152 150.0 A G PASS 0/1 247 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.21146 0.21150 0.18776 None None None None None None EIF2B5|0.736636231|7.47%,EPHB3|0.920048428|2.98%

ERAP1
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 mr50 2 5 rs30187
dbSNP Clinvar 		96124330 69.9 T C PASS 0/1 165 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 mr50 2 5 rs2549782
dbSNP Clinvar 		96231000 58.9 G T PASS 0/1 118 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%

ERN1
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 mr50 2 17 rs196912
dbSNP Clinvar 		62121480 71.5 T C PASS 0/1 239 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.58187 0.58190 0.38423 None None None None None None ERN1|0.1172536|47.89%

ESRRA
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 mr50 2 11 rs759464632
dbSNP Clinvar 		64083295 21.2 CGGG C PASS 0/1 261 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.02749 None None None None None None ESRRA|0.285985685|28.66%
View mr50 2 11 rs80310817
dbSNP Clinvar 		64083331 43.2 C T PASS 0/1 229 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.02 0.98 None None None None None None ESRRA|0.285985685|28.66%

FAM96A
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 mr50 2 15 rs332259
dbSNP Clinvar 		64385851 62.2 T C PASS 1/1 199 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.91693 0.91690 0.08765 None None None None None None FAM96A|0.609063314|11.48%

FAN1
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 mr50 2 15 rs2955795
dbSNP Clinvar 		31229420 150.0 T C PASS 0/1 64 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.45707 0.45710 0.34820 None None None None None None FAN1|0.004030595|86.96%

FASN
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 mr50 2 17 rs2228309
dbSNP Clinvar 		80051183 150.0 A G PASS 0/1 227 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.39177 0.39180 0.45840 None None None None None None FASN|0.307148829|27.07%

FCER2
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 mr50 2 19 rs2228138
dbSNP Clinvar 		7755056 72.1 G A PASS 0/1 152 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.39836 0.39840 0.37244 None None None None None None FCER2|0.003028518|88.59%

FDFT1
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 mr50 2 8 rs904011
dbSNP Clinvar 		11683653 60.6 T C PASS 1/1 200 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.97504 0.97500 0.02630 None None None None None None FDFT1|0.104063444|50.39%

FGFR2
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 mr50 2 10 rs1047100
dbSNP Clinvar 		123298158 62.1 T C PASS 1/1 179 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.79533 0.79530 0.23328 None None None None None None FGFR2|0.998388411|0.5%

FOLH1
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 mr50 2 11 rs202680
dbSNP Clinvar 		49221885 63.3 T A PASS 0/1 136 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.41494 0.41490 0.35832 None None None None None None FOLH1|0.065976588|58.36%
View mr50 2 11 rs202716
dbSNP Clinvar 		49196490 69.2 T C PASS 0/1 78 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.41833 0.41830 None None None None None None FOLH1|0.065976588|58.36%