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Genes at Omim

ABCC8, ACAT1, AIP, ALG9, ALX4, AMPD3, ANO5, APOC3, ATM, BEST1, CASP12, CATSPER1, CCND1, CD151, CD3E, CD3G, CD44, CDON, CEP57, CPT1A, CTNND1, CTSC, DDB2, DEAF1, DHCR7, DRD4, DYNC2H1, EFEMP2, EXT2, F2, FANCF, FERMT3, HBB, HBG1, HEPACAM, HPS5, HRAS, IFITM5, IGHMBP2, IL10RA, IRF7, KCNJ11, KCNJ5, KCNQ1, LDHA, LRP4, LRP5, MED17, MEN1, MFRP, MMP1, MMP20, MMP3, MTMR2, MUC5B, MYBPC3, MYO7A, NARS2, PDHX, PEX16, PGR, PHOX2A, PICALM, PNPLA2, PTPRJ, RAG1, RAPSN, RASGRP2, ROBO3, ROM1, SDHD, SERPINH1, SLC22A12, SLC37A4, SLC39A13, SLC6A5, SMPD1, SPTBN2, ST14, STIM1, TCIRG1, TECTA, TENM4, TH, TMEM216, TNNI2, TPCN2, UCP2, UCP3, UNC93B1, USH1C, WT1,
ABCC8 Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3)
Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
Diabetes mellitus, noninsulin-dependent, 125853 (3)
Diabetes mellitus, permanent neonatal, 606176 (3)
Diabetes mellitus, transient neonatal 2, 610374 (3)
ACAT1 Alpha-methylacetoacetic aciduria, 203750 (3)
AIP Pituitary adenoma 1, multiple types, 102200 (3)
Pituitary adenoma predisposition, 102200 (3)
ALG9 Gillessen-Kaesbach-Nishimura syndrome, 263210 (3)
Congenital disorder of glycosylation, type Il, 608776 (3)
ALX4 Frontonasal dysplasia 2, 613451 (3)
Parietal foramina 2, 609597 (3)
{Craniosynostosis 5, susceptibility to}, 615529 (3)
AMPD3 [AMP deaminase deficiency, erythrocytic], 612874 (3)
ANO5 Gnathodiaphyseal dysplasia, 166260 (3)
Miyoshi muscular dystrophy 3, 613319 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 12, 611307 (3)
APOC3 Apolipoprotein C-III deficiency, 614028 (3)
ATM Ataxia-telangiectasia, 208900 (3)
Lymphoma, B-cell non-Hodgkin, somatic (3)
Lymphoma, mantle cell, somatic (3)
T-cell prolymphocytic leukemia, somatic (3)
{Breast cancer, susceptibility to}, 114480 (3)
BEST1 Bestrophinopathy, autosomal recessive, 611809 (3)
Macular dystrophy, vitelliform, 2, 153700 (3)
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220 (3)
Retinitis pigmentosa, concentric, 613194 (3)
Retinitis pigmentosa-50, 613194 (3)
Vitreoretinochoroidopathy, 193220 (3)
CASP12 {Sepsis, susceptibility to} (3)
CATSPER1 Spermatogenic failure 7, 612997 (3)
CCND1 {Multiple myeloma, susceptibility to}, 254500 (3)
{von Hippel-Lindau syndrome, modifier of}, 193300 (3)
{Colorectal cancer, susceptibility to}, 114500 (3)
CD151 Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 (3)
[Blood group, Raph], 179620 (3)
CD3E Immunodeficiency 18, 615615 (3)
Immunodeficiency 18, SCID variant, 615615 (3)
CD3G Immunodeficiency 17, CD3 gamma deficient, 615607 (3)
CD44 [Blood group, Indian system], 609027 (3)
CDON Holoprosencephaly 11, 614226 (3)
CEP57 Mosaic variegated aneuploidy syndrome 2, 614114 (3)
CPT1A CPT deficiency, hepatic, type IA, 255120 (3)
CTNND1 Blepharocheilodontic syndrome 2, 617681 (3)
CTSC Haim-Munk syndrome, 245010 (3)
Papillon-Lefevre syndrome, 245000 (3)
Periodontitis 1, juvenile, 170650 (3)
DDB2 Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 (3)
DEAF1 ?Dyskinesia, seizures, and intellectual developmental disorder, 617171 (3)
Mental retardation, autosomal dominant 24, 615828 (3)
DHCR7 Smith-Lemli-Opitz syndrome, 270400 (3)
DRD4 Autonomic nervous system dysfunction (3)
[Novelty seeking personality], 601696 (1)
{Attention deficit-hyperactivity disorder}, 143465 (3)
DYNC2H1 Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3)
EFEMP2 Cutis laxa, autosomal recessive, type IB, 614437 (3)
EXT2 Exostoses, multiple, type 2, 133701 (3)
?Seizures, scoliosis, and macrocephaly syndrome, 616682 (3)
F2 Hypoprothrombinemia, 613679 (3)
Dysprothrombinemia, 613679 (3)
{Pregnancy loss, recurrent, susceptibility to, 2}, 614390 (3)
{Stroke, ischemic, susceptibility to}, 601367 (3)
Thrombophilia due to thrombin defect, 188050 (3)
FANCF Fanconi anemia, complementation group F, 603467 (3)
FERMT3 Leukocyte adhesion deficiency, type III, 612840 (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)
HBG1 Fetal hemoglobin quantitative trait locus 1, 141749 (3)
HEPACAM Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 (3)
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926 (3)
HPS5 Hermansky-Pudlak syndrome 5, 614074 (3)
HRAS Bladder cancer, somatic, 109800 (3)
Congenital myopathy with excess of muscle spindles, 218040 (3)
Costello syndrome, 218040 (3)
Nevus sebaceous or woolly hair nevus, somatic, 162900 (3)
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)
Spitz nevus or nevus spilus, somatic, 137550 (3)
Thyroid carcinoma, follicular, somatic, 188470 (3)
IFITM5 Osteogenesis imperfecta, type V, 610967 (3)
IGHMBP2 Charcot-Marie-Tooth disease, axonal, type 2S, 616155 (3)
Neuronopathy, distal hereditary motor, type VI, 604320 (3)
IL10RA Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 (3)
IRF7 ?Immunodeficiency 39, 616345 (3)
KCNJ11 Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3)
Diabetes mellitus, transient neonatal, 3, 610582 (3)
Diabetes, permanent neonatal, with or without neurologic features, 606176 (3)
Maturity-onset diabetes of the young, type 13, 616329 (3)
{Diabetes mellitus, type 2, susceptibility to}, 125853 (3)
KCNJ5 Hyperaldosteronism, familial, type III, 613677 (3)
Long QT syndrome 13, 613485 (3)
KCNQ1 Atrial fibrillation, familial, 3, 607554 (3)
{Long QT syndrome 1, acquired, susceptibility to}, 192500 (3)
Long QT syndrome 1, 192500 (3)
Jervell and Lange-Nielsen syndrome, 220400 (3)
Short QT syndrome 2, 609621 (3)
LDHA Glycogen storage disease XI, 612933 (3)
LRP4 Cenani-Lenz syndactyly syndrome, 212780 (3)
?Myasthenic syndrome, congenital, 17, 616304 (3)
Sclerosteosis 2, 614305 (3)
LRP5 Hyperostosis, endosteal, 144750 (3)
{Osteoporosis}, 166710 (3)
Exudative vitreoretinopathy 4, 601813 (3)
Osteopetrosis, autosomal dominant 1, 607634 (3)
Osteoporosis-pseudoglioma syndrome, 259770 (3)
Osteosclerosis, 144750 (3)
Polycystic liver disease 4 with or without kidney cysts, 617875 (3)
[Bone mineral density variability 1], 601884 (3)
van Buchem disease, type 2, 607636 (3)
MED17 Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3)
MEN1 Adrenal adenoma, somatic (3)
Angiofibroma, somatic (3)
Carcinoid tumor of lung (3)
Lipoma, somatic (3)
Multiple endocrine neoplasia 1, 131100 (3)
Parathyroid adenoma, somatic (3)
MFRP Microphthalmia, isolated 5, 611040 (3)
Nanophthalmos 2, 609549 (3)
MMP1 COPD, rate of decline of lung function in, 606963 (3)
{Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600 (3)
MMP20 Amelogenesis imperfecta, type IIA2, 612529 (3)
MMP3 {Coronary heart disease, susceptibility to, 6}, 614466 (3)
MTMR2 Charcot-Marie-Tooth disease, type 4B1, 601382 (3)
MUC5B {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)
MYBPC3 Cardiomyopathy, dilated, 1MM, 615396 (3)
Cardiomyopathy, hypertrophic, 4, 115197 (3)
Left ventricular noncompaction 10, 615396 (3)
MYO7A Deafness, autosomal dominant 11, 601317 (3)
Deafness, autosomal recessive 2, 600060 (3)
Usher syndrome, type 1B, 276900 (3)
NARS2 Combined oxidative phosphorylation deficiency 24, 616239 (3)
PDHX Lacticacidemia due to PDX1 deficiency, 245349 (3)
PEX16 Peroxisome biogenesis disorder 8A (Zellweger), 614876 (3)
Peroxisome biogenesis disorder 8B, 614877 (3)
PGR ?Progesterone resistance, 264080 (2)
PHOX2A Fibrosis of extraocular muscles, congenital, 2, 602078 (3)
PICALM Leukemia, acute myeloid, somatic, 601626 (3)
PNPLA2 Neutral lipid storage disease with myopathy, 610717 (3)
PTPRJ Colon cancer, somatic, 114500 (3)
RAG1 Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889 (3)
Combined cellular and humoral immune defects with granulomas, 233650 (3)
Omenn syndrome, 603554 (3)
Severe combined immunodeficiency, B cell-negative, 601457 (3)
RAPSN Fetal akinesia deformation sequence, 208150 (3)
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 (3)
RASGRP2 ?Bleeding disorder, platelet-type, 18, 615888 (3)
ROBO3 Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 (3)
ROM1 Retinitis pigmentosa 7, digenic form, 608133 (3)
SDHD Mitochondrial complex II deficiency, 252011 (3)
Paraganglioma and gastric stromal sarcoma, 606864 (3)
Paragangliomas 1, with or without deafness, 168000 (3)
Pheochromocytoma, 171300 (3)
SERPINH1 {Preterm premature rupture of the membranes, susceptibility to}, 610504 (3)
Osteogenesis imperfecta, type X, 613848 (3)
SLC22A12 Hypouricemia, renal, 220150 (3)
SLC37A4 Glycogen storage disease Ib, 232220 (3)
Glycogen storage disease Ic, 232240 (3)
SLC39A13 Ehlers-Danlos syndrome, spondylodysplastic type, 3, 612350 (3)
SLC6A5 Hyperekplexia 3, 614618 (3)
SMPD1 Niemann-Pick disease, type A, 257200 (3)
Niemann-Pick disease, type B, 607616 (3)
SPTBN2 Spinocerebellar ataxia 5, 600224 (3)
Spinocerebellar ataxia, autosomal recessive 14, 615386 (3)
ST14 Ichthyosis, congenital, autosomal recessive 11, 602400 (3)
STIM1 Immunodeficiency 10, 612783 (3)
Myopathy, tubular aggregate, 1 160565 (3)
Stormorken syndrome, 185070 (3)
TCIRG1 Osteopetrosis, autosomal recessive 1, 259700 (3)
TECTA Deafness, autosomal dominant 8/12, 601543 (3)
Deafness, autosomal recessive 21, 603629 (3)
TENM4 Essential tremor, hereditary, 5, 616736 (3)
TH Segawa syndrome, recessive, 605407 (3)
TMEM216 Joubert syndrome 2, 608091 (3)
Meckel syndrome 2, 603194 (3)
TNNI2 Arthrogryposis multiplex congenita, distal, type 2B, 601680 (3)
TPCN2 [Skin/hair/eye pigmentation 10, blond/brown hair], 612267 (3)
UCP2 {Obesity, susceptibility to, BMIQ4}, 607447 (3)
UCP3 {Obesity, severe, and type II diabetes}, 601665 (3)
UNC93B1 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 (3)
USH1C Deafness, autosomal recessive 18A, 602092 (3)
Usher syndrome, type 1C, 276904 (3)
WT1 Frasier syndrome, 136680 (3)
Denys-Drash syndrome, 194080 (3)
Meacham syndrome, 608978 (3)
Mesothelioma, somatic, 156240 (3)
Nephrotic syndrome, type 4, 256370 (3)
Wilms tumor, type 1, 194070 (3)

Genes at Clinical Genomics Database

ABCC8, ACAT1, AIP, ALG9, ALX4, AMPD3, ANO5, APOC3, ATM, BDNF, BEST1, CD151, CD3E, CD3G, CD44, CDON, CEP57, CPT1A, CTSC, DDB2, DEAF1, DHCR7, DRD2, DYNC2H1, EFEMP2, EXT2, F2, FANCF, FERMT3, GRIK4, HBB, HBG1, HEPACAM, HPS5, HRAS, IFITM5, IGHMBP2, IL10RA, IRF7, KCNJ11, KCNJ5, KCNQ1, KIRREL3, LDHA, LRP4, LRP5, MED17, MEN1, MFRP, MMP20, MTMR2, MYBPC3, MYO7A, NARS2, NPAT, PDHX, PEX16, PHOX2A, PNPLA2, RAG1, RAPSN, RASGRP2, ROBO3, ROM1, SDHD, SERPINH1, SLC22A12, SLC37A4, SLC39A13, SLC6A5, SMPD1, SPTBN2, ST14, STIM1, TCIRG1, TECTA, TENM4, TH, TMEM216, TNNI2, TPCN2, UNC93B1, USH1C, WT1,
ABCC8 Diabetes mellitus, transient neonatal, 2
Diabetes, permanent neonatal
Hyperinsulinemic hypoglycemia, familial, 1
Hypoglycemia, leucine-induced
ACAT1 Alpha-methylacetoacetic aciduria
AIP Pituitary adenoma, familial isolated
ALG9 Congenital disorder of glycosylation, type Il
ALX4 Parietal foramina 2
Frontonasal dysplasia 2
AMPD3 Erythrocytic AMP deaminase deficiency
ANO5 Gnathodiaphyseal dysplasia
APOC3 Apolipoprotein C-III deficiency
ATM Breast cancer, susceptibility to
Ataxia-Telangiectasia
BDNF Central hypoventilation syndrome, congenital
BEST1 Vitreoretinochoroidopathy
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
CD151 Raph blood group
CD3E Immunodeficiency 18
CD3G Immunodeficiency 17
CD44 Blood group, Indian
CDON Holoprosencephaly 11
CEP57 Mosaic variegated aneuploidy syndrome 2
CPT1A Carnitine palmitoyltransferase deficiency I
CTSC Haim-Munk syndrome
Papillon-Lefevre syndrome
Periodontitis 1, juvenile
DDB2 Xeroderma pigmentosum, group E
DEAF1 Mental retardation, autosomal dominant 24
DHCR7 Smith-Lemli-Opitz syndrome
DRD2 Myoclonic dystonia
DYNC2H1 Short-rib thoracic dysplasia 3 with or without polydactyly
EFEMP2 Cutis laxa, autosomal recessive type IB
EXT2 Exostoses, multiple, type 2
F2 Prothrombin deficiency, congenital
Thrombophilia due to thrombin defect
FANCF Fanconia anemia, complementation group F
FERMT3 Leukocyte adhesion deficiency, type III
GRIK4 Response to antidepressant treatment with citalopram
HBB Beta-thalassemia
Sickle cell disease
Thalassemia-beta, dominant inclusion body
Other Thalassemias/Hemoglobinopathies
HBG1 Hereditary persistence of fetal hemoglobin
HEPACAM Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
Megalencephalic leukoencephalopathy with subcortical cysts 2A
HPS5 Hermansky-Pudlak syndrome 5
HRAS Costello syndrome
Congenital myopathy with excess of muscle spindles
IFITM5 Osteogenesis imperfecta, type V
IGHMBP2 Spinal muscular atrophy, distal, autosomal recessive, 1
Charcot-Marie-Tooth disease, axonal, type 2S
IL10RA Inflammatory bowel disease 28, autosomal recessive
IRF7 Immunodeficiency 39
KCNJ11 Hyperinsulinemic hypoglycemia, familial, 2
Diabetes mellitus, transient neonatal, 3
Diabetes, permanent neonatal
Diabetes, permanent neonatal, with Neurologic features
KCNJ5 Long QT syndrome 13
Hyperaldosteronism, familial, type III
KCNQ1 Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome 2
Atrial fibrillation, familial 3
KIRREL3 Mental retardation, autosomal dominant 4
LDHA Glycogen storage disease XI
LRP4 Cenani-Lenz syndactyly syndrome
Myasthenic syndrome, congenital 17
Sclerosteosis 2
LRP5 van Buchem disease, type 2
Osteopetrosis, autosomal dominant 1
Osteosclerosis
Hyperostosis, endosteal
Exudative vitreoretinopathy 4
Osteoporosis-pseudoglioma syndrome
MED17 Microcephaly, postnatal progressive, with seizures and brain atrophy
MEN1 Multiple endocrine neoplasia type I
Hyperparathyroidism, familial primary
MFRP Microphthalmia, isolated 5
Nanophthalmos 2
Retinitis pigmentosa, autosomal recessive
MMP20 Amelogenesis imperfecta, hypomaturation type, IIA2
MTMR2 Charcot-Marie-Tooth disease, type 4B1
MYBPC3 Cardiomyopathy, familial hypertrophic, 4
Cardiomyopathy, dilated, 1MM
Left ventricular noncompaction 10
MYO7A Deafness, autosomal recessive 2
Usher syndrome, type 1B
NARS2 Combined oxidative phosphorylation deficiency 24
NPAT Nodular lymphocyte predominant Hodgkin lymphoma, familial
PDHX Pyruvate dehydrogenase E3-binding protein deficiency
PEX16 Peroxisome biogenesis factor disorder 16
PHOX2A Fibrosis of extraocular muscles, congenital, 2
PNPLA2 Neutral lipid storage disease with myopathy
RAG1 T cell-negative, B cell-negative, natural killer cell-positive severe combined immunodeficiency
Omenn syndrome
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity
Combined cellular and humoral immune defects with granulomas
RAPSN Myasthenic syndrome, congenital 11, associated with acetylcholine receptor deficiency
RASGRP2 Bleeding disorder, platelet-type, 18
ROBO3 Gaze palsy, horizontal, with progressive scoliosis
ROM1 Retinitis pigmentosa 7, digenic
SDHD Cowden syndrome 3
Paraganglioma and gastric stromal sarcoma
Pheochromocytoma
Paragangliomas 1
Carcinoid tumors, intestinal
SERPINH1 Osteogenesis imperfecta, type X
SLC22A12 Hypouricemia, renal 1
SLC37A4 Glycogen storage disease Ib
Glycogen storage disease Ic
Glycogen storage disease Id
SLC39A13 Spondylocheirodysplasia, Ehlers-Danlos syndrome-like
SLC6A5 Hyperekplexia 3
SMPD1 Niemann-Pick disease, type A
Niemann-Pick disease, type B
SPTBN2 Spinocerebellar ataxia 5, autosomal dominant
Spinocerebellar ataxia 14, autosomal recessive
ST14 Ichthyosis, congenital, autosomal recessive 11
STIM1 Stormorken syndrome
Immunodeficiency 10
TCIRG1 Osteopetrosis, autosomal recessive 1
TECTA Deafness, autosomal recessive 21
Deafness, autosomal dominant 8/12
TENM4 Tremor, hereditary essential, 5
TH Segawa syndrome, autosomal recessive
TMEM216 Joubert syndrome 2
Meckel syndrome 2
TNNI2 Arthrogryposis multiplex congenita, distal, type 2B
TPCN2 Skin/hair/eye pigmentation, variation in, 10
UNC93B1 Herpes simplex encephalitis, susceptibility to, 1
USH1C Usher syndrome, type IC
Deafness, autosomal recessive 18A
WT1 Denys-Drash syndrome
Wilms tumor, type 1
Frasier syndrome

Genes at HGMD

Summary

Number of Variants: 547
Number of Genes: 167

Export to: CSV

ABCC8

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 muestra1_s1 11 rs1048099
dbSNP Clinvar
17496516 1874.06 A G PASS 0/1 143 SYNONYMOUS_CODING LOW None 0.43930 0.43930 0.47682 None None None None None None ABCC8|0.967482639|1.79%
View muestra1_s1 11 rs1799858
dbSNP Clinvar
17449929 2618.29 C T PASS 0/1 225 SYNONYMOUS_CODING LOW None 0.20208 0.20210 0.15671 None None None None None None ABCC8|0.967482639|1.79%
View muestra1_s1 11 rs757110
dbSNP Clinvar
17418477 937.15 C A PASS 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.72644 0.72640 0.26144 0.63 0.00 None None None None None None ABCC8|0.967482639|1.79%

ACAT1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs3741056
dbSNP Clinvar
107992346 942.7 G C PASS 0/1 99 NON_SYNONYMOUS_CODING MODERATE None 0.33187 0.33190 0.20971 0.02 0.14 None None None None None None ACAT1|0.138678583|44.58%

ACCS

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs3107275
dbSNP Clinvar
44104981 1364.01 C T PASS 0/1 93 NON_SYNONYMOUS_CODING MODERATE None 0.40375 0.40380 0.41512 0.23 0.10 None None None None None None ACCS|0.034927707|67.49%

AIP

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs641081
dbSNP Clinvar
67257823 5937.86 C A PASS 1/1 196 NON_SYNONYMOUS_CODING MODERATE None 0.84545 0.84540 0.16574 1.00 0.01 None None None None None None AIP|0.191995289|37.6%
View muestra1_s1 11 rs4930199
dbSNP Clinvar
67258391 2842.41 A G PASS 1/1 89 NON_SYNONYMOUS_CODING MODERATE None 0.99940 0.99940 0.00023 1.00 0.00 None None None None None None AIP|0.191995289|37.6%

ALG9

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs10708475
dbSNP Clinvar
111742145 2589.26 CG C PASS 1/1 59 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00040 None None None None None None ALG9|0.352156163|23.94%

ALX4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 . 44331185 5.45 C A LowGQX;SB 0/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.02 None None None None None None ALX4|0.690991356|8.75%
View muestra1_s1 11 rs3802805
dbSNP Clinvar
44286566 1014.81 G A PASS 0/1 130 SYNONYMOUS_CODING LOW None 0.35843 0.35840 0.27461 None None None None None None ALX4|0.690991356|8.75%
View muestra1_s1 11 rs12419361
dbSNP Clinvar
44289071 1254.24 G A PASS 0/1 106 SYNONYMOUS_CODING LOW None 0.10363 0.10360 0.08859 None None None None None None ALX4|0.690991356|8.75%
View muestra1_s1 11 rs10769028
dbSNP Clinvar
44297054 3384.86 T C PASS 1/1 119 SYNONYMOUS_CODING LOW None 0.99161 0.99160 0.00877 None None None None None None ALX4|0.690991356|8.75%

AMPD3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs3741041
dbSNP Clinvar
10521764 1765.25 T C PASS 1/1 67 SYNONYMOUS_CODING LOW None 0.36741 0.36740 0.31447 None None None None None None AMPD3|0.504907229|15.58%

ANGPTL5

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs3858418
dbSNP Clinvar
101771248 1593.09 G A PASS 1/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.99681 0.99680 0.00492 1.00 0.00 None None None None None None ANGPTL5|0.084272942|54.36%

ANKK1

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 muestra1_s1 11 rs1800497
dbSNP Clinvar
113270828 2097.77 G A PASS 0/1 158 NON_SYNONYMOUS_CODING MODERATE None 0.32568 0.32570 0.23539 1.00 0.00 None None None None None None ANKK1|0.031328783|68.87%
View muestra1_s1 11 rs2734848
dbSNP Clinvar
113270374 2866.42 C T PASS 0/1 186 SYNONYMOUS_CODING LOW None 0.00060 0.00060 0.24391 None None None None None None ANKK1|0.031328783|68.87%
View muestra1_s1 11 rs4938016
dbSNP Clinvar
113270015 2656.6 G C PASS 0/1 154 NON_SYNONYMOUS_CODING MODERATE None 0.00539 0.54930 0.37520 1.00 0.00 None None None None None None ANKK1|0.031328783|68.87%
View muestra1_s1 11 rs7118900
dbSNP Clinvar
113266821 1351.53 G A PASS 0/1 143 NON_SYNONYMOUS_CODING MODERATE None 0.32049 0.32050 0.22305 0.06 0.06 None None None None None None ANKK1|0.031328783|68.87%

ANO5

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 muestra1_s1 11 rs4312063
dbSNP Clinvar
22242729 305.05 T C PASS 0/1 38 SYNONYMOUS_CODING LOW None 0.78994 0.78990 0.15557 None None None None None None ANO5|0.057436384|60.57%
View muestra1_s1 11 rs7481951
dbSNP Clinvar
22271870 216.92 A T PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.44864 0.11 0.04 None None None None None None ANO5|0.057436384|60.57%

APLNR

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs948847
dbSNP Clinvar
57004344 2031.58 G T PASS 0/1 136 SYNONYMOUS_CODING LOW None 0.58467 0.58470 0.48438 None None None None None None APLNR|0.396612969|20.99%

APOA4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs5104
dbSNP Clinvar
116692334 1825.63 C T PASS 0/1 118 NON_SYNONYMOUS_CODING MODERATE None 0.75919 0.75920 0.12629 1.00 0.00 None None None None None None APOA4|0.026315681|71.18%
View muestra1_s1 11 rs5092
dbSNP Clinvar
116693464 1085.59 C T PASS 0/1 110 SYNONYMOUS_CODING LOW None 0.71985 0.71980 0.16146 None None None None None None APOA4|0.026315681|71.18%

APOC3

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 muestra1_s1 11 rs4520
dbSNP Clinvar
116701535 2688.61 T C PASS 0/1 211 SYNONYMOUS_CODING LOW None 0.59705 0.59700 0.25935 None None None None None None APOC3|0.026161452|71.25%

ARHGEF12

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs766894
dbSNP Clinvar
120328858 1225.48 T C PASS 0/1 80 SYNONYMOUS_CODING LOW None 0.12480 0.12480 0.21835 None None None None None None ARHGEF12|0.378503864|22.14%
View muestra1_s1 11 rs148969251
dbSNP Clinvar
120350819 1120.85 A G PASS 0/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.01797 0.01797 0.00141 0.20 0.00 None None None None None None ARHGEF12|0.378503864|22.14%

ATM

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 muestra1_s1 11 rs659243
dbSNP Clinvar
108183167 1373.5 A G PASS 1/1 50 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None ATM|0.992666029|0.97%,C11orf65|0.02654042|71.1%

BACE1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs539765
dbSNP Clinvar
117160347 3591.66 A G PASS 1/1 117 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00046 1.00 0.00 None None None None None None BACE1|0.90818677|3.28%
View muestra1_s1 11 rs638405
dbSNP Clinvar
117163824 958.26 C G PASS 0/1 89 SYNONYMOUS_CODING LOW None 0.55351 0.55350 0.43782 None None None None None None BACE1|0.90818677|3.28%

BDNF

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs2353512
dbSNP Clinvar
27679662 403.94 T C PASS 1/1 11 SYNONYMOUS_CODING LOW None 0.99521 0.99520 0.00392 None None None None None None BDNF|0.999919401|0.18%

BEST1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs1801393
dbSNP Clinvar
61722627 705.6 G C PASS 0/1 49 SYNONYMOUS_CODING LOW None 0.03095 0.03095 0.00854 None None None None None None BEST1|0.0975286|51.61%
View muestra1_s1 11 rs1800009
dbSNP Clinvar
61730234 1690.91 T C PASS 0/1 128 SYNONYMOUS_CODING LOW None 0.59145 0.59150 0.39932 None None None None None None BEST1|0.0975286|51.61%,FTH1|0.995222163|0.79%
View muestra1_s1 11 rs1800007
dbSNP Clinvar
61719387 2013.57 T C PASS 1/1 68 None None None 0.68051 0.68050 0.44732 None None None None None None BEST1|0.0975286|51.61%
View muestra1_s1 11 rs1109748
dbSNP Clinvar
61722645 491.62 C A PASS 0/1 43 SYNONYMOUS_CODING LOW None 0.31749 0.31750 0.07653 None None None None None None BEST1|0.0975286|51.61%

BRSK2

Omim - GeneCards - NCBI
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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 muestra1_s1 11 rs61868960
dbSNP Clinvar
1432691 5234.88 T C PASS 1/1 177 SYNONYMOUS_CODING LOW None 0.27796 0.27800 0.45844 None None None None None None BRSK2|0.058480152|60.26%
View muestra1_s1 11 rs4963048
dbSNP Clinvar
1481930 382.36 A G PASS 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None BRSK2|0.058480152|60.26%

CALCA

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs5239
dbSNP Clinvar
14991539 3503.04 T C PASS 1/1 114 NON_SYNONYMOUS_CODING MODERATE None 0.98682 0.98680 0.01632 1.00 0.00 None None None None None None CALCB|0.093039764|52.6%,CALCA|0.331472679|25.38%

CASP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs580253
dbSNP Clinvar
104900488 1676.11 G A PASS 0/1 129 SYNONYMOUS_CODING LOW None 0.11582 0.11580 0.14067 None None None None None None CASP1|0.07166837|57.06%
View muestra1_s1 11 rs539595
dbSNP Clinvar
104905047 839.19 G A PASS 0/1 92 SYNONYMOUS_CODING LOW None 0.14277 0.14280 0.17113 None None None None None None CASP1|0.07166837|57.06%

CASP12

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs693001
dbSNP Clinvar
104768000 1198.25 G A PASS 1/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.95527 0.95530 0.19 0.00 None None None None None None CASP12|0.001761043|91.65%
View muestra1_s1 11 rs647039
dbSNP Clinvar
104761206 4969.47 C T PASS 1/1 160 NON_SYNONYMOUS_CODING MODERATE None 0.99860 0.99860 0.45 0.00 None None None None None None CASP12|0.001761043|91.65%
View muestra1_s1 11 rs497116
dbSNP Clinvar
104763117 3121.15 G A PASS 1/1 104 STOP_GAINED HIGH None 0.94848 0.94850 None None None None None None CASP12|0.001761043|91.65%
View muestra1_s1 11 rs555367
dbSNP Clinvar
104768098 1709.87 T C PASS 1/1 54 SYNONYMOUS_CODING LOW None 0.98982 0.98980 None None None None None None CASP12|0.001761043|91.65%

CASP5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs507879
dbSNP Clinvar
104877927 1338.43 T C PASS 0/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.44529 0.44530 0.49931 1.00 0.00 None None None None None None CASP5|0.002670175|89.33%
View muestra1_s1 11 rs523104
dbSNP Clinvar
104869708 448.6 G C PASS 0/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.52915 0.52920 0.45370 0.60 0.00 None None None None None None CASP5|0.002670175|89.33%

CATSPER1

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 muestra1_s1 11 rs1203998
dbSNP Clinvar
65793454 6240.84 C T PASS 1/1 195 NON_SYNONYMOUS_CODING MODERATE None 0.33646 0.33650 0.33331 0.63 0.00 None None None None None None CATSPER1|0.002272512|90.24%
View muestra1_s1 11 rs1893316
dbSNP Clinvar
65793797 2784.8 G A PASS 1/1 91 SYNONYMOUS_CODING LOW None 0.16594 0.16590 0.17824 None None None None None None CATSPER1|0.002272512|90.24%
View muestra1_s1 11 rs3814747
dbSNP Clinvar
65788072 3623.64 C T PASS 1/1 112 NON_SYNONYMOUS_CODING MODERATE None 0.93650 0.93650 0.03756 0.05 0.01 None None None None None None CATSPER1|0.002272512|90.24%

CCND1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs9344
dbSNP Clinvar
69462910 618.87 G A PASS 0/1 57 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.41354 0.41350 0.38674 None None None None None None CCND1|0.99996103|0.13%

CD151

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs1130663
dbSNP Clinvar
837582 2716.09 G A PASS 1/1 82 SYNONYMOUS_CODING LOW None 0.64217 0.64220 0.36542 None None None None None None CD151|0.194924934|37.28%,POLR2L|0.30502837|27.25%

CD3E

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs1126924
dbSNP Clinvar
118178007 949.22 C T PASS 0/1 100 SYNONYMOUS_CODING LOW None 0.22544 0.22540 0.24061 None None None None None None CD3E|0.004279672|86.63%

CD3G

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs3753059
dbSNP Clinvar
118221349 1007.19 T C PASS 0/1 84 SYNONYMOUS_CODING LOW None 0.29633 0.29630 0.00254 None None None None None None CD3G|0.00825526|82.39%
View muestra1_s1 11 rs3753058
dbSNP Clinvar
118221350 1005.34 G T PASS 0/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.29752 0.29750 0.00439 0.00 0.81 None None None None None None CD3G|0.00825526|82.39%

CD44

Omim - GeneCards - NCBI
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RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs9666607
dbSNP Clinvar
35226155 1564.69 A G PASS 1/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.83027 0.83030 0.24762 0.70 0.00 None None None None None None CD44|0.995117419|0.82%
View muestra1_s1 11 rs1467558
dbSNP Clinvar
35229673 2631.6 T C PASS 1/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.93910 0.93910 0.13677 1.00 0.00 None None None None None None CD44|0.995117419|0.82%

CD5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs637186
dbSNP Clinvar
60892606 2536.46 A G PASS 1/1 88 NON_SYNONYMOUS_CODING MODERATE None 0.96785 0.96790 0.06337 0.65 0.00 None None None None None None CD5|0.018723395|74.85%
View muestra1_s1 11 rs2229177
dbSNP Clinvar
60893235 963.21 C T PASS 0/1 81 NON_SYNONYMOUS_CODING MODERATE None 0.69109 0.69110 0.48747 0.00 0.97 None None None None None None CD5|0.018723395|74.85%

CDON

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs2276061
dbSNP Clinvar
125831701 935.86 G A PASS 0/1 90 SYNONYMOUS_CODING LOW None 0.24221 0.24220 0.25308 None None None None None None CDON|0.175863279|39.54%
View muestra1_s1 11 rs35131477
dbSNP Clinvar
125891162 324.19 A G SB 0/1 25 SYNONYMOUS_CODING LOW None 0.02636 0.02636 0.04054 None None None None None None CDON|0.175863279|39.54%
View muestra1_s1 11 rs684535
dbSNP Clinvar
125830970 1189.17 A T PASS 1/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.27000 1.00 0.00 None None None None None None CDON|0.175863279|39.54%
View muestra1_s1 11 rs3740904
dbSNP Clinvar
125848261 563.77 C T PASS 0/1 46 SYNONYMOUS_CODING LOW None 0.39956 0.39960 0.35646 None None None None None None CDON|0.175863279|39.54%

CEP57

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs644799
dbSNP Clinvar
95564259 978.06 A G PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.20587 0.20590 0.29482 0.55 0.00 None None None None None None CEP57|0.277421264|29.31%
View muestra1_s1 11 rs522536
dbSNP Clinvar
95528714 373.89 C T PASS 0/1 25 None None None 0.27137 0.27140 None None None None None None CEP57|0.277421264|29.31%

CHRM1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs2067480
dbSNP Clinvar
62677220 2148.52 G A PASS 0/1 170 SYNONYMOUS_CODING LOW None 0.08007 0.08007 0.06701 None None None None None None CHRM1|0.346651548|24.37%
View muestra1_s1 11 rs2067477
dbSNP Clinvar
62678306 3094.64 G T PASS 0/1 204 SYNONYMOUS_CODING LOW None 0.08007 0.08007 0.06686 None None None None None None CHRM1|0.346651548|24.37%

CPT1A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs2228502
dbSNP Clinvar
68549340 3105.97 A G PASS 1/1 105 SYNONYMOUS_CODING LOW None 0.89257 0.89260 0.08800 None None None None None None CPT1A|0.081912568|54.76%

CSNK2A3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs1056951
dbSNP Clinvar
11373808 5084.72 T G PASS 1/1 152 NON_SYNONYMOUS_CODING MODERATE None 0.94808 0.94810 0.07 0.85 None None None None None None GALNT18|0.62810621|10.85%,CSNK2A3|0.018335412|75.05%
View muestra1_s1 11 rs2071461
dbSNP Clinvar
11373960 3748.98 C T PASS 1/1 105 NON_SYNONYMOUS_CODING MODERATE None 0.62500 0.62500 1.00 0.00 None None None None None None GALNT18|0.62810621|10.85%,CSNK2A3|0.018335412|75.05%
View muestra1_s1 11 rs2896586
dbSNP Clinvar
11374016 4036.46 T A PASS 1/1 109 NON_SYNONYMOUS_CODING MODERATE None 0.94429 0.94430 1.00 0.00 None None None None None None GALNT18|0.62810621|10.85%,CSNK2A3|0.018335412|75.05%
View muestra1_s1 11 rs2071460
dbSNP Clinvar
11374269 3137.51 A G PASS 1/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.42053 0.42050 0.02 0.86 None None None None None None GALNT18|0.62810621|10.85%,CSNK2A3|0.018335412|75.05%
View muestra1_s1 11 rs2896585
dbSNP Clinvar
11374283 2995.99 T G PASS 1/1 87 NON_SYNONYMOUS_CODING MODERATE None 0.94609 0.94610 0.45 0.15 None None None None None None GALNT18|0.62810621|10.85%,CSNK2A3|0.018335412|75.05%
View muestra1_s1 11 rs1056963
dbSNP Clinvar
11373635 3985.74 C T PASS 1/1 118 SYNONYMOUS_CODING LOW None 0.94968 0.94970 None None None None None None GALNT18|0.62810621|10.85%,CSNK2A3|0.018335412|75.05%
View muestra1_s1 11 rs7945066
dbSNP Clinvar
11373587 3658.89 A G PASS 1/1 120 SYNONYMOUS_CODING LOW None 0.95128 0.95130 None None None None None None GALNT18|0.62810621|10.85%,CSNK2A3|0.018335412|75.05%
View muestra1_s1 11 rs7948121
dbSNP Clinvar
11373508 2641.47 T C PASS 1/1 75 NON_SYNONYMOUS_CODING MODERATE None 0.95168 0.95170 1.00 0.00 None None None None None None GALNT18|0.62810621|10.85%,CSNK2A3|0.018335412|75.05%
View muestra1_s1 11 rs4243927
dbSNP Clinvar
11373925 3932.38 A C PASS 1/1 111 NON_SYNONYMOUS_CODING MODERATE None 0.94589 0.94590 1.00 0.00 None None None None None None GALNT18|0.62810621|10.85%,CSNK2A3|0.018335412|75.05%

CTNND1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs10896644
dbSNP Clinvar
57563991 435.46 C T PASS 0/1 40 SYNONYMOUS_CODING LOW None 0.27137 0.27140 0.35002 None None None None None None CTNND1|0.831680077|5.07%
View muestra1_s1 11 rs11229137
dbSNP Clinvar
57571232 2418.94 C T PASS 1/1 73 SYNONYMOUS_CODING LOW None 0.99621 0.99620 0.00211 None None None None None None CTNND1|0.831680077|5.07%

CTSC

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs217086
dbSNP Clinvar
88045583 991.99 A G PASS 1/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.93091 0.93090 0.13592 0.68 0.00 None None None None None None CTSC|0.452252196|18.08%

CUL5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs7117111
dbSNP Clinvar
107917087 1408.46 A G PASS 1/1 51 SYNONYMOUS_CODING LOW None 0.66214 0.66210 0.43014 None None None None None None CUL5|0.673651451|9.27%

DDB2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs326212
dbSNP Clinvar
47238522 1066.12 T C PASS 1/1 38 SYNONYMOUS_CODING LOW None 0.99421 0.99420 0.00469 None None None None None None DDB2|0.316525468|26.33%

DDX25

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs683155
dbSNP Clinvar
125788678 440.75 T C PASS 0/1 34 SYNONYMOUS_CODING LOW None 0.68990 0.68990 0.31106 None None None None None None DDX25|0.287568298|28.55%

DEAF1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs35303725
dbSNP Clinvar
674638 1235.9 C T PASS 0/1 104 SYNONYMOUS_CODING LOW None 0.02057 0.02057 0.01199 None None None None None None DEAF1|0.01654609|76.16%

DHCR7

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs949177
dbSNP Clinvar
71152461 1878.29 A G PASS 1/1 60 SYNONYMOUS_CODING LOW None 0.80731 0.80730 0.09001 None None None None None None DHCR7|0.081765547|54.8%
View muestra1_s1 11 rs1790334
dbSNP Clinvar
71155153 2991.24 A G PASS 1/1 99 SYNONYMOUS_CODING LOW None 0.81010 0.81010 0.08708 None None None None None None DHCR7|0.081765547|54.8%
View muestra1_s1 11 rs909217
dbSNP Clinvar
71146577 7913.42 G A PASS 1/1 258 SYNONYMOUS_CODING LOW None 0.38199 0.38200 0.39747 None None None None None None DHCR7|0.081765547|54.8%
View muestra1_s1 11 rs760241
dbSNP Clinvar
71146691 6645.38 A G PASS 1/1 199 SYNONYMOUS_CODING LOW None 0.75639 0.75640 0.12881 None None None None None None DHCR7|0.081765547|54.8%
View muestra1_s1 11 rs1044482
dbSNP Clinvar
71155171 2426.56 C T PASS 1/1 81 SYNONYMOUS_CODING LOW None 0.40096 0.40100 0.37309 None None None None None None DHCR7|0.081765547|54.8%

DKK3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs3206824
dbSNP Clinvar
11986061 4214.74 T C PASS 1/1 137 NON_SYNONYMOUS_CODING MODERATE None 0.81210 0.81210 0.22818 1.00 0.00 None None None None None None DKK3|0.14040778|44.34%

DRD2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs6275
dbSNP Clinvar
113283477 857.84 A G PASS 0/1 53 SYNONYMOUS_CODING LOW None 0.52656 0.52660 0.40373 None None None None None None DRD2|0.941392484|2.43%

DRD4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 . 637367 14.92 G C LowGQ;LowGQX 1/1 2 SYNONYMOUS_CODING LOW None None None None None None None DRD4|0.015467826|76.84%

DYNC2H1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs688906
dbSNP Clinvar
103029516 1831.42 A G PASS 1/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.66833 0.66830 0.32793 0.23 None None None None None None DYNC2H1|0.272755366|29.66%
View muestra1_s1 11 rs589623
dbSNP Clinvar
103082590 1166.99 G A PASS 1/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.73842 0.73840 0.24556 0.08 None None None None None None DYNC2H1|0.272755366|29.66%
View muestra1_s1 11 rs586592
dbSNP Clinvar
103058126 928.51 C T PASS 1/1 32 SYNONYMOUS_CODING LOW None 0.61701 0.61700 0.35624 None None None None None None DYNC2H1|0.272755366|29.66%
View muestra1_s1 11 rs2566913
dbSNP Clinvar
103229027 2030.38 T C PASS 1/1 64 SYNONYMOUS_CODING LOW None 0.49501 0.49500 0.44159 None None None None None None DYNC2H1|0.272755366|29.66%
View muestra1_s1 11 rs658804
dbSNP Clinvar
103057048 2388.66 A G PASS 1/1 81 SYNONYMOUS_CODING LOW None 0.00040 0.00040 0.40245 None None None None None None DYNC2H1|0.272755366|29.66%
View muestra1_s1 11 rs585692
dbSNP Clinvar
103047007 1415.96 C A PASS 1/1 45 SYNONYMOUS_CODING LOW None 0.93131 0.93130 0.05539 None None None None None None DYNC2H1|0.272755366|29.66%

EFEMP2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs601314
dbSNP Clinvar
65636053 5791.43 T C PASS 1/1 179 NON_SYNONYMOUS_CODING MODERATE None 0.89457 0.89460 0.10551 1.00 0.00 None None None None None None EFEMP2|0.248373684|31.69%

ETS1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs2230004
dbSNP Clinvar
128333503 481.49 T C PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.47963 0.47960 0.47122 None None None None None None ETS1|0.981958771|1.41%

EXT2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs4755228
dbSNP Clinvar
44129290 863.2 C A PASS 0/1 71 SYNONYMOUS_CODING LOW None 0.07808 0.07808 0.00584 None None None None None None EXT2|0.524478579|14.77%

F2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs5896
dbSNP Clinvar
46745003 3367.5 C T PASS 1/1 114 NON_SYNONYMOUS_CODING MODERATE None 0.21925 0.21920 0.09600 0.10 0.07 None None None None None None F2|0.792964612|6.02%