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+ Genes 167

+ Genes associated with diseases 92

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

FANCF
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs151253274
dbSNP Clinvar 		22647261 1605.55 G A PASS 0/1 110 SYNONYMOUS_CODING LOW None 0.01358 0.01358 0.00092 None None None None None None FANCF|0.011173944|79.88%,GAS2|0.651737613|10.04%

FERMT3
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 rs17851033
dbSNP Clinvar 		63979162 934.05 C T PASS 0/1 112 SYNONYMOUS_CODING LOW None 0.07268 0.07268 0.05602 None None None None None None FERMT3|0.07725167|55.83%

FOLH1
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 rs202716
dbSNP Clinvar 		49196490 1905.57 T C PASS 1/1 62 SYNONYMOUS_CODING LOW None 0.41833 0.41830 None None None None None None FOLH1|0.065976588|58.36%
View muestra1_s1 11 rs182169
dbSNP Clinvar 		49207315 1635.04 A G PASS 1/1 57 SYNONYMOUS_CODING LOW None 0.40675 0.40670 0.31298 None None None None None None FOLH1|0.065976588|58.36%
View muestra1_s1 11 rs202680
dbSNP Clinvar 		49221885 2063.09 T A PASS 1/1 69 SYNONYMOUS_CODING LOW None 0.41494 0.41490 0.35832 None None None None None None FOLH1|0.065976588|58.36%
View muestra1_s1 11 rs202676
dbSNP Clinvar 		49227620 1166.69 A G PASS 1/1 38 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.38638 0.38640 0.32566 0.13 0.00 None None None None None None FOLH1|0.065976588|58.36%

GAB2
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 rs1385600
dbSNP Clinvar 		77936166 904.96 A G PASS 0/1 99 SYNONYMOUS_CODING LOW None 0.34625 0.34620 0.25354 None None None None None None GAB2|0.188194855|38.04%
View muestra1_s1 11 rs2450122
dbSNP Clinvar 		77930345 997.95 T C PASS 0/1 71 SYNONYMOUS_CODING LOW None 0.26458 0.26460 0.16798 None None None None None None GAB2|0.188194855|38.04%
View muestra1_s1 11 rs2248407
dbSNP Clinvar 		77937800 353.84 G A PASS 0/1 27 SYNONYMOUS_CODING LOW None 0.31590 0.31590 0.22089 None None None None None None GAB2|0.188194855|38.04%

GAL3ST3
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 rs61895584
dbSNP Clinvar 		65810209 1839.74 C T PASS 1/1 63 SYNONYMOUS_CODING LOW None 0.75140 0.75140 0.14008 None None None None None None GAL3ST3|0.119874748|47.46%
View muestra1_s1 11 rs7937692
dbSNP Clinvar 		65810749 6700.37 T C PASS 1/1 216 SYNONYMOUS_CODING LOW None 0.93590 0.93590 0.03673 None None None None None None GAL3ST3|0.119874748|47.46%

GALNT18
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 rs10831567
dbSNP Clinvar 		11292700 755.56 G C PASS 0/1 67 SYNONYMOUS_CODING LOW None 0.40036 0.40040 0.40154 None None None None None None GALNT18|0.62810621|10.85%
View muestra1_s1 11 rs901553
dbSNP Clinvar 		11354346 2357.25 T C PASS 1/1 74 SYNONYMOUS_CODING LOW None 0.43470 0.43470 0.36759 None None None None None None GALNT18|0.62810621|10.85%

GRIK4
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 muestra1_s1 11 rs2230297
dbSNP Clinvar 		120745874 594.41 C T PASS 0/1 67 SYNONYMOUS_CODING LOW None 0.23263 0.23260 0.14549 None None None None None None GRIK4|0.59773792|11.84%
View muestra1_s1 11 rs2156634
dbSNP Clinvar 		120776001 3366.5 G A PASS 1/1 102 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.87800 0.87800 0.11927 None None None None None None GRIK4|0.59773792|11.84%
View muestra1_s1 11 rs644057
dbSNP Clinvar 		120827609 5504.77 A G PASS 1/1 185 SYNONYMOUS_CODING LOW None 0.71466 0.71470 0.39419 None None None None None None GRIK4|0.59773792|11.84%
View muestra1_s1 11 . 120856747 9.8 C A LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None None None None None None None GRIK4|0.59773792|11.84%

GRM5
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 . 88780871 15.31 C A LowGQX;LowQD;SB 0/1 13 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00 1.00 None None None None None None GRM5|0.60765444|11.53%

GSTP1
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 rs4891
dbSNP Clinvar 		67353970 4282.29 T C PASS 1/1 131 SYNONYMOUS_CODING LOW None 0.35603 0.35600 0.37829 None None None None None None GSTP1|0.202165152|36.51%
View muestra1_s1 11 rs1695
dbSNP Clinvar 		67352689 3870.47 A G PASS 1/1 130 NON_SYNONYMOUS_CODING MODERATE None 0.35264 0.35260 0.36084 1.00 0.00 4.94 None None None None None None GSTP1|0.202165152|36.51%

HBB
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 rs713040
dbSNP Clinvar 		5248243 1660.42 A G PASS 1/1 52 SYNONYMOUS_CODING LOW None 0.71426 0.71430 0.15133 None None None None None None HBB|0.071313084|57.13%

HBG1
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 rs1061234
dbSNP Clinvar 		5270686 273.91 G A LowGQ;LowGQX 1/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.38 0.00 None None None None None None HBG1|0.004852505|86.01%

HEPACAM
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 rs10790715
dbSNP Clinvar 		124793682 1363.64 T C PASS 1/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.79393 0.79390 0.24808 0.49 0.00 None None None None None None HEPACAM|0.236062668|32.8%
View muestra1_s1 11 rs116102273
dbSNP Clinvar 		124791314 817.64 T C PASS 0/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.06190 0.06190 0.03103 0.41 0.00 None None None None None None HEPACAM|0.236062668|32.8%

HPS5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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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 rs1140047
dbSNP Clinvar 		18327684 3847.4 G T PASS 1/1 128 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.80471 0.80470 0.28774 None None None None None None HPS5|0.115331572|48.24%

HRAS
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 rs12628
dbSNP Clinvar 		534242 568.13 A G PASS 0/1 70 SYNONYMOUS_CODING LOW None 0.29713 0.29710 0.35453 None None None None None None HRAS|0.999987107|0.08%

HSPA8
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 rs1064585
dbSNP Clinvar 		122929407 496.5 T G PASS 0/1 54 SYNONYMOUS_CODING LOW None 0.24281 0.24280 0.24650 None None None None None None HSPA8|0.744196885|7.27%
View muestra1_s1 11 rs4802
dbSNP Clinvar 		122928622 1360.32 A G PASS 0/1 97 SYNONYMOUS_CODING LOW None 0.43231 0.43230 0.33187 None None None None None None HSPA8|0.744196885|7.27%

HTR3A
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 muestra1_s1 11 rs1176713
dbSNP Clinvar 		113860425 4556.06 A G PASS 1/1 147 SYNONYMOUS_CODING LOW None 0.27696 0.27700 0.23842 None None None None None None HTR3A|0.381609235|21.94%
View muestra1_s1 11 rs33940208
dbSNP Clinvar 		113846077 815.78 C T PASS 0/1 48 SYNONYMOUS_CODING LOW None 0.14117 0.14120 0.05495 None None None None None None HTR3A|0.381609235|21.94%

HTR3B
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 rs2276305
dbSNP Clinvar 		113803104 413.32 G A PASS 0/1 35 SYNONYMOUS_CODING LOW None 0.01438 0.12180 0.04002 None None None None None None HTR3B|0.069126817|57.7%

IFITM5
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 muestra1_s1 11 rs57285449
dbSNP Clinvar 		299411 2337.75 C G PASS 1/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.59265 0.59270 0.38807 0.20 0.10 -0.14 None None rs57285449 2 not_specified 2 None

IGHMBP2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View muestra1_s1 11 rs17612126
dbSNP Clinvar 		68705674 3633.07 C A PASS 1/1 123 NON_SYNONYMOUS_CODING MODERATE None 0.19709 0.19710 0.21012 0.44 0.01 None None None None None None IGHMBP2|0.010106738|80.78%
View muestra1_s1 11 rs1249463
dbSNP Clinvar 		68671477 3428.29 T C PASS 1/1 121 SYNONYMOUS_CODING LOW None 0.67512 0.67510 0.21239 None None None None None None IGHMBP2|0.010106738|80.78%
View muestra1_s1 11 rs560096
dbSNP Clinvar 		68678962 1342.58 T C PASS 1/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.68051 0.68050 0.22144 1.00 0.00 None None None None None None IGHMBP2|0.010106738|80.78%

IL10RA
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 muestra1_s1 11 rs4252249
dbSNP Clinvar 		117859209 678.2 G A PASS 0/1 59 SYNONYMOUS_CODING LOW None 0.12560 0.12560 0.12352 None None None None None None IL10RA|0.008850497|81.79%
View muestra1_s1 11 . 117870281 1983.26 A G PASS 0/1 152 SYNONYMOUS_CODING LOW None None None None None None None IL10RA|0.008850497|81.79%
View muestra1_s1 11 rs2229113
dbSNP Clinvar 		117869670 2264.77 A G PASS 1/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.81110 0.81110 0.27155 0.56 0.00 None None None None None None IL10RA|0.008850497|81.79%
View muestra1_s1 11 rs2256111
dbSNP Clinvar 		117864047 505.61 A G PASS 0/1 74 SYNONYMOUS_CODING LOW None 0.51677 0.51680 0.49862 None None None None None None IL10RA|0.008850497|81.79%

IL18
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 rs549908
dbSNP Clinvar 		112020916 552.96 T G PASS 0/1 35 SYNONYMOUS_CODING LOW None 0.21985 0.21980 0.27225 None None None None None None IL18|0.105458212|50.15%

ILK
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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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 rs11314683,rs398015268
dbSNP Clinvar 		6630028 2320.13 TC T PASS 1/1 66 None None None 1.00000 1.00000 None None None None None None ILK|0.927031493|2.82%,TAF10|0.251862987|31.38%
View muestra1_s1 11 rs2292195
dbSNP Clinvar 		6631016 1072.64 C T PASS 0/1 83 SYNONYMOUS_CODING LOW None 0.16014 0.16010 0.22734 None None None None None None ILK|0.927031493|2.82%,TAF10|0.251862987|31.38%

IRF7
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 rs1061502
dbSNP Clinvar 		614318 1087.29 T C PASS 0/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.27556 0.27560 0.37031 1.00 0.00 -3.24 None None None None None None IRF7|0.021937375|73.21%
View muestra1_s1 11 rs1061501
dbSNP Clinvar 		614864 7507.47 C T PASS 1/1 237 SYNONYMOUS_CODING LOW None 0.81669 0.81670 0.13008 None None None None None None IRF7|0.021937375|73.21%
View muestra1_s1 11 rs12290989
dbSNP Clinvar 		615010 2387.19 G T PASS 0/1 200 None None None 0.27616 0.27620 0.27134 0.53 0.00 None None None None None None IRF7|0.021937375|73.21%
View muestra1_s1 11 rs12272434
dbSNP Clinvar 		615011 2445.42 A T PASS 0/1 200 None None None 0.27636 0.27640 0.27235 0.00 0.00 None None None None None None IRF7|0.021937375|73.21%
View muestra1_s1 11 rs1061505
dbSNP Clinvar 		613297 914.6 T G PASS 0/1 72 SYNONYMOUS_CODING LOW None 0.29852 0.29850 0.34421 None None None None None None IRF7|0.021937375|73.21%
View muestra1_s1 11 rs1131665
dbSNP Clinvar 		613208 716.58 T C PASS 0/1 68 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.27556 0.27560 0.36142 1.00 0.00 -2.97 None None None None None None IRF7|0.021937375|73.21%

KCNJ11
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 rs5219
dbSNP Clinvar 		17409572 1643.47 T C PASS 0/1 152 NON_SYNONYMOUS_CODING MODERATE None 0.73702 0.73700 0.26190 0.17 0.00 None None None None None None KCNJ11|0.881087233|3.95%
View muestra1_s1 11 rs5215
dbSNP Clinvar 		17408630 1374.39 C T PASS 0/1 120 NON_SYNONYMOUS_CODING MODERATE None 0.73063 0.73060 0.26798 0.11 0.02 None None None None None None KCNJ11|0.881087233|3.95%

KCNJ5
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 rs7118824
dbSNP Clinvar 		128781978 3829.78 T G PASS 1/1 131 SYNONYMOUS_CODING LOW None 0.86621 0.86620 0.15728 None None None None None None KCNJ5|0.219304401|34.46%
View muestra1_s1 11 rs7102584
dbSNP Clinvar 		128782012 3612.87 C G PASS 1/1 121 NON_SYNONYMOUS_CODING MODERATE None 0.99501 0.99500 0.01293 1.00 0.00 None None None None None None KCNJ5|0.219304401|34.46%
View muestra1_s1 11 rs6590357
dbSNP Clinvar 		128781339 5483.45 T C PASS 1/1 168 SYNONYMOUS_CODING LOW None 0.86981 0.86980 0.15174 None None None None None None KCNJ5|0.219304401|34.46%
View muestra1_s1 11 rs7118833
dbSNP Clinvar 		128782002 3586.91 T C PASS 1/1 121 SYNONYMOUS_CODING LOW None 0.86701 0.86700 0.15605 0.81 0.00 0.11904 T None None None None KCNJ5|0.219304401|34.46%

KCNQ1
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 rs1057128
dbSNP Clinvar 		2797237 2400.39 G A PASS 0/1 149 SYNONYMOUS_CODING LOW None 0.18091 0.18090 0.14351 None None None None None None KCNQ1|0.362119637|23.28%

KIAA1377
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 muestra1_s1 11 rs7109233
dbSNP Clinvar 		101833644 1456.73 C T PASS 1/1 43 SYNONYMOUS_CODING LOW None 0.98722 0.98720 0.01963 None None None None None None CEP126|0.022563713|72.89%
View muestra1_s1 11 rs6590942
dbSNP Clinvar 		101857758 1283.66 G A PASS 1/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.98742 0.98740 0.01946 1.00 0.00 None None None None None None CEP126|0.022563713|72.89%
View muestra1_s1 11 rs3740930
dbSNP Clinvar 		101832708 1226.41 A T PASS 0/1 93 SYNONYMOUS_CODING LOW None 0.09984 0.09984 0.02077 None None None None None None CEP126|0.022563713|72.89%
View muestra1_s1 11 rs7926728
dbSNP Clinvar 		101832478 2694.75 G T PASS 1/1 86 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.85 0.00 None None None None None None CEP126|0.022563713|72.89%

KIRREL3
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 rs948052
dbSNP Clinvar 		126294817 1531.75 G A SB 1/1 42 SYNONYMOUS_CODING LOW None 0.70367 0.70370 0.33517 None None None None None None ST3GAL4|0.13130516|45.71%,KIRREL3|0.826803288|5.18%
View muestra1_s1 11 rs12269776
dbSNP Clinvar 		126391297 1806.76 T G PASS 0/1 148 SYNONYMOUS_CODING LOW None 0.22484 0.22480 0.27995 None None None None None None KIRREL3|0.826803288|5.18%

LDHA
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 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 rs4687
dbSNP Clinvar 		18424451 1347.1 C T PASS 1/1 37 SYNONYMOUS_CODING LOW None 0.63459 0.63460 0.36772 None None None None None None LDHA|0.651134998|10.07%
View muestra1_s1 11 rs4820
dbSNP Clinvar 		18424487 1392.78 A G PASS 1/1 42 SYNONYMOUS_CODING LOW None 0.63459 0.63460 0.37020 None None None None None None LDHA|0.651134998|10.07%
View muestra1_s1 11 rs34305721
dbSNP Clinvar 		18425256 186.41 G C PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.00240 0.00240 0.00008 0.02 0.74 None None None None None None LDHA|0.651134998|10.07%

LRP4
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 rs10838631
dbSNP Clinvar 		46914583 2595.57 T C PASS 1/1 73 SYNONYMOUS_CODING LOW None 0.98083 0.98080 0.02077 None None None None None None LRP4|0.507499481|15.5%
View muestra1_s1 11 rs2290883
dbSNP Clinvar 		46890197 1562.37 G A PASS 1/1 54 SYNONYMOUS_CODING LOW None 0.21925 0.21920 0.09231 None None None None None None LRP4|0.507499481|15.5%
View muestra1_s1 11 rs10769215
dbSNP Clinvar 		46914598 3035.61 A G PASS 1/1 90 SYNONYMOUS_CODING LOW None 0.99461 0.99460 0.00423 None None None None None None LRP4|0.507499481|15.5%
View muestra1_s1 11 rs2306033
dbSNP Clinvar 		46897446 2128.35 G A PASS 1/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.21925 0.21920 0.09223 0.34 0.00 None None None None None None LRP4|0.507499481|15.5%

LRP5
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 rs748395267
dbSNP Clinvar 		68201222 2089.94 G A PASS 0/1 177 NON_SYNONYMOUS_CODING MODERATE None 0.57 0.02 None None None None None None LRP5|0.688053439|8.86%
View muestra1_s1 11 rs545382
dbSNP Clinvar 		68171013 4787.73 T C PASS 1/1 157 SYNONYMOUS_CODING LOW None 0.84145 0.84150 0.18463 None None None None None None LRP5|0.688053439|8.86%
View muestra1_s1 11 rs556442
dbSNP Clinvar 		68192690 4206.48 G A PASS 1/1 129 SYNONYMOUS_CODING LOW None 0.57927 0.57930 0.47351 None None None None None None LRP5|0.688053439|8.86%

MADD
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 rs1051006
dbSNP Clinvar 		47306585 3290.59 G A PASS 1/1 112 NON_SYNONYMOUS_CODING MODERATE None 0.33506 0.33510 0.22550 0.27 0.00 None None None None None None MADD|0.314745847|26.46%
View muestra1_s1 11 rs1017594
dbSNP Clinvar 		47331116 2740.97 T C PASS 1/1 88 SYNONYMOUS_CODING LOW None 0.99381 0.99380 0.00492 None None None None None None MADD|0.314745847|26.46%

MAP6
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 rs12225010
dbSNP Clinvar 		75378674 4.59 A C LowGQX;LowQD 0/1 8 NON_SYNONYMOUS_CODING MODERATE None 0.54892 0.54890 1.00 0.00 None None None None None None MAP6|0.029257326|69.72%
View muestra1_s1 11 rs1231128
dbSNP Clinvar 		75298797 1768.01 A G PASS 1/1 52 SYNONYMOUS_CODING LOW None 0.37620 0.37620 0.29932 None None None None None None MAP6|0.029257326|69.72%

MED17
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 rs2848477
dbSNP Clinvar 		93517886 1285.63 G C PASS 0/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.56570 0.56570 0.44942 0.58 0.00 None None None None None None MED17|0.647391142|10.18%
View muestra1_s1 11 rs7116967
dbSNP Clinvar 		93517874 1421.43 C G PASS 0/1 86 SYNONYMOUS_CODING LOW None 0.56570 0.56570 0.45466 None None None None None None MED17|0.647391142|10.18%
View muestra1_s1 11 rs34057693
dbSNP Clinvar 		93529655 614.87 G A PASS 0/1 63 SYNONYMOUS_CODING LOW None 0.11322 0.11320 0.10979 None None None None None None MED17|0.647391142|10.18%

MEN1
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 rs540012
dbSNP Clinvar 		64572557 1391.9 A G PASS 1/1 44 SYNONYMOUS_CODING LOW None 0.97604 0.97600 0.02385 None None None None None None MEN1|0.661753232|9.63%
View muestra1_s1 11 rs2959656
dbSNP Clinvar 		64572018 2907.82 T C PASS 1/1 87 NON_SYNONYMOUS_CODING MODERATE None 0.83447 0.83450 0.09157 0.76 0.00 None None None None None None MEN1|0.661753232|9.63%

MFRP
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 rs2510143
dbSNP Clinvar 		119216231 3428.03 A G PASS 1/1 115 SYNONYMOUS_CODING LOW None 0.90196 0.90200 0.07230 None None None None None None C1QTNF5|0.125545582|46.55%,MFRP|0.053195246|61.74%
View muestra1_s1 11 rs36015759
dbSNP Clinvar 		119216279 1577.26 G A PASS 1/1 53 SYNONYMOUS_CODING LOW None 0.20148 0.20150 0.22505 None None None None None None C1QTNF5|0.125545582|46.55%,MFRP|0.053195246|61.74%

MMP1
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 rs470558
dbSNP Clinvar 		102666316 2577.98 T C PASS 1/1 83 SYNONYMOUS_CODING LOW None 0.93131 0.93130 0.04137 None None None None None None MMP1|0.220212117|34.4%

MMP20
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 rs1784424
dbSNP Clinvar 		102477377 433.24 G T PASS 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.41993 0.41990 0.40649 0.32 0.00 None None None None None None MMP20|0.098173374|51.49%
View muestra1_s1 11 rs2245803
dbSNP Clinvar 		102495998 2044.6 T G PASS 1/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.67652 0.67650 0.36258 0.28 0.00 None None None None None None MMP20|0.098173374|51.49%
View muestra1_s1 11 rs1784423
dbSNP Clinvar 		102477395 315.9 A G PASS 0/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.41993 0.41990 0.40649 1.00 0.00 None None None None None None MMP20|0.098173374|51.49%

MMP3
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 rs679620
dbSNP Clinvar 		102713620 1864.76 T C PASS 1/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.65216 0.65220 0.45278 0.73 0.00 None None None None None None MMP3|0.461471213|17.61%
View muestra1_s1 11 rs602128
dbSNP Clinvar 		102713465 1973.28 A G PASS 1/1 66 SYNONYMOUS_CODING LOW None 0.61861 0.61860 0.48662 None None None None None None MMP3|0.461471213|17.61%
View muestra1_s1 11 rs520540
dbSNP Clinvar 		102709425 1604.37 A G PASS 1/1 52 SYNONYMOUS_CODING LOW None 0.62240 0.62240 0.48577 None None None None None None MMP3|0.461471213|17.61%

MMP8
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 rs3765620
dbSNP Clinvar 		102595492 968.31 G A PASS 1/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.65435 0.65440 0.37735 0.33 0.00 None None None None None None MMP8|0.030128828|69.34%
View muestra1_s1 11 rs1940475
dbSNP Clinvar 		102593248 2448.76 T C PASS 1/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.60004 0.60000 0.44656 0.12 0.01 None None None None None None MMP8|0.030128828|69.34%

MS4A12
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 rs2298553
dbSNP Clinvar 		60265002 848.1 C T PASS 0/1 64 STOP_GAINED HIGH None 0.47824 0.47820 0.45241 None None None None None None MS4A12|0.000555931|98.15%
View muestra1_s1 11 rs2298552
dbSNP Clinvar 		60264947 1760.45 C T PASS 1/1 54 SYNONYMOUS_CODING LOW None 0.61542 0.61540 0.44933 None None None None None None MS4A12|0.000555931|98.15%

MS4A6E
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 rs2304935
dbSNP Clinvar 		60102384 1377.82 A G PASS 1/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.25819 0.25820 0.31001 1.00 0.00 None None None None None None MS4A6E|0.000800637|96.64%
View muestra1_s1 11 rs2304934
dbSNP Clinvar 		60102396 1658.24 A G PASS 1/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.25819 0.25820 0.31001 0.14 0.21 None None None None None None MS4A6E|0.000800637|96.64%
View muestra1_s1 11 rs2304933
dbSNP Clinvar 		60102507 1518.29 G T PASS 1/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.25779 0.25780 0.30963 0.06 0.01 None None None None None None MS4A6E|0.000800637|96.64%

MTCH2
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 rs73465610
dbSNP Clinvar 		47640398 19.14 T C LowGQX;LowQD;SB 0/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.87 0.00 None None None None None None MTCH2|0.544905089|13.99%
View muestra1_s1 11 rs796758665
dbSNP Clinvar 		47660295 112.63 A G LowQD 0/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.03 1.00 0.48 0.00 0.04611 T None None None None MTCH2|0.544905089|13.99%
View muestra1_s1 11 rs796923130
dbSNP Clinvar 		47660301 123.75 T A LowQD 0/1 71 STOP_GAINED HIGH None 2.31 0.01 0.12845 T None None None None MTCH2|0.544905089|13.99%
View muestra1_s1 11 rs79167377
dbSNP Clinvar 		47660287 21.82 T C LowGQX;LowQD;SB 0/1 69 SYNONYMOUS_CODING LOW None None None None None None None MTCH2|0.544905089|13.99%