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+ Genes 166

+ Genes associated with diseases 93

Genes at Omim

ABCC8, ACAT1, ACTN3, AIP, ALG8, ALG9, ALX4, ANO5, APOA5, APOC3, ATM, BBS1, BEST1, BSCL2, CASP12, CATSPER1, CCND1, CD3E, CD44, CDON, CPT1A, CTNND1, CTSC, CTSD, CYP2R1, DDB2, DEAF1, DHCR7, DRD4, DYNC2H1, EFEMP2, FSHB, FZD4, HBB, HPS5, HRAS, IFITM5, IGHMBP2, IL10RA, IRF7, KCNJ11, KCNJ5, KCNQ1, LDHA, LRP4, LRP5, MED17, MEN1, MFRP, MMP1, MUC5B, MYBPC3, MYO7A, NARS2, PDHX, PEX16, PGR, PICALM, PNPLA2, PTH, PTPRJ, RAPSN, RDX, ROM1, SBF2, SCN4B, SDHD, SERPINH1, SIAE, SLC22A12, SLC35C1, SLC37A4, SLC39A13, SLC6A5, SMPD1, SPTBN2, ST14, STIM1, TCIRG1, TECTA, TENM4, TH, TIRAP, TMEM216, TNNI2, TPCN2, TRPC6, TYR, 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)
ACTN3 [Alpha-actinin-3 deficiency], 617749 (3)
[Sprinting performance], 617749 (3)
AIP Pituitary adenoma 1, multiple types, 102200 (3)
Pituitary adenoma predisposition, 102200 (3)
ALG8 Congenital disorder of glycosylation, type Ih, 608104 (3)
Polycystic liver disease 3 with or without kidney cysts, 617874 (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)
ANO5 Gnathodiaphyseal dysplasia, 166260 (3)
Miyoshi muscular dystrophy 3, 613319 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 12, 611307 (3)
APOA5 {Hypertriglyceridemia, susceptibility to}, 145750 (3)
Hyperchylomicronemia, late-onset, 144650 (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)
BBS1 Bardet-Biedl syndrome 1, 209900 (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)
BSCL2 Lipodystrophy, congenital generalized, type 2, 269700 (3)
Encephalopathy, progressive, with or without lipodystrophy, 615924 (3)
Neuropathy, distal hereditary motor, type VA, 600794 (3)
Silver spastic paraplegia syndrome, 270685 (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)
CD3E Immunodeficiency 18, 615615 (3)
Immunodeficiency 18, SCID variant, 615615 (3)
CD44 [Blood group, Indian system], 609027 (3)
CDON Holoprosencephaly 11, 614226 (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)
CTSD Ceroid lipofuscinosis, neuronal, 10, 610127 (3)
CYP2R1 Rickets due to defect in vitamin D 25-hydroxylation, 600081 (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)
FSHB Hypogonadotropic hypogonadism 24 without anosmia, 229070 (3)
FZD4 Exudative vitreoretinopathy 1, 133780 (3)
Retinopathy of prematurity, 133780 (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)
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)
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)
PICALM Leukemia, acute myeloid, somatic, 601626 (3)
PNPLA2 Neutral lipid storage disease with myopathy, 610717 (3)
PTH Hypoparathyroidism, autosomal dominant, 146200 (3)
Hypoparathyroidism, autosomal recessive, 146200 (3)
PTPRJ Colon cancer, somatic, 114500 (3)
RAPSN Fetal akinesia deformation sequence, 208150 (3)
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 (3)
RDX Deafness, autosomal recessive 24, 611022 (3)
ROM1 Retinitis pigmentosa 7, digenic form, 608133 (3)
SBF2 Charcot-Marie-Tooth disease, type 4B2, 604563 (3)
SCN4B Atrial fibrillation, familial, 17, 611819 (3)
Long QT syndrome-10, 611819 (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)
SIAE {Autoimmune disease, susceptibility to, 6}, 613551 (3)
SLC22A12 Hypouricemia, renal, 220150 (3)
SLC35C1 Congenital disorder of glycosylation, type IIc, 266265 (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)
TIRAP {Malaria, protection against}, 611162 (3)
{Pneumococcal disease, invasive, protection against}, 610799 (3)
{Tuberculosis, protection against}, 607948 (3)
{Bacteremia, protection against}, 614382 (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)
TRPC6 Glomerulosclerosis, focal segmental, 2, 603965 (3)
TYR Albinism, oculocutaneous, type IA, 203100 (3)
Albinism, oculocutaneous, type IB, 606952 (3)
{Melanoma, cutaneous malignant, susceptibility to, 8}, 601800 (3)
Waardenburg syndrome/albinism, digenic, 103470 (3)
[Skin/hair/eye pigmentation 3, blue/green eyes], 601800 (3)
[Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800 (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, ALG8, ALG9, ALX4, ANO5, APOA5, APOC3, ATM, BBS1, BDNF, BEST1, BSCL2, CD3E, CD44, CDON, CPT1A, CTSC, CTSD, CYP2R1, DDB2, DEAF1, DHCR7, DRD2, DYNC2H1, EFEMP2, FSHB, FZD4, GRIK4, HBB, HPS5, HRAS, IFITM5, IGHMBP2, IL10RA, IRF7, KCNJ11, KCNJ5, KCNQ1, KIRREL3, LDHA, LRP4, LRP5, MED17, MEN1, MFRP, MYBPC3, MYO7A, NARS2, NPAT, PDHX, PEX16, PNPLA2, PTH, RAPSN, RDX, ROM1, SBF2, SCN4B, SDHD, SERPINH1, SLC22A12, SLC35C1, SLC37A4, SLC39A13, SLC6A5, SMPD1, SPTBN2, ST14, STIM1, TCIRG1, TECTA, TENM4, TH, TMEM216, TNNI2, TPCN2, TRPC6, TYR, 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
ALG8 Congenital disorder of glycosylation, type Ih
ALG9 Congenital disorder of glycosylation, type Il
ALX4 Parietal foramina 2
Frontonasal dysplasia 2
ANO5 Gnathodiaphyseal dysplasia
APOA5 Hyperchylomicronemia
APOC3 Apolipoprotein C-III deficiency
ATM Breast cancer, susceptibility to
Ataxia-Telangiectasia
BBS1 Bardet-Biedl syndrome 1
BDNF Central hypoventilation syndrome, congenital
BEST1 Vitreoretinochoroidopathy
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
BSCL2 Lipodystrophy, congenital generalized, type 2
Encephalopathy, progressive, with or without lipodystrophy
CD3E Immunodeficiency 18
CD44 Blood group, Indian
CDON Holoprosencephaly 11
CPT1A Carnitine palmitoyltransferase deficiency I
CTSC Haim-Munk syndrome
Papillon-Lefevre syndrome
Periodontitis 1, juvenile
CTSD Ceroid lipofuscinosis, neuronal, 10
CYP2R1 Vitamin D hydroxylation deficient rickets, type 1B
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
FSHB Hypogonadotropic hypogonadism 24 without anosmia
FZD4 Exudative vitreoretinopathy 1
Retinopathy of prematurity
GRIK4 Response to antidepressant treatment with citalopram
HBB Beta-thalassemia
Sickle cell disease
Thalassemia-beta, dominant inclusion body
Other Thalassemias/Hemoglobinopathies
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
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
PNPLA2 Neutral lipid storage disease with myopathy
PTH Hypoparathyroidism, familial isolated
RAPSN Myasthenic syndrome, congenital 11, associated with acetylcholine receptor deficiency
RDX Deafness, autosomal recessive 24
ROM1 Retinitis pigmentosa 7, digenic
SBF2 Charcot-Marie-Tooth disease, type 4B2 with early-onset glaucoma
SCN4B Long QT syndrome 10
Atrial fibrilliation, familial 17
SDHD Cowden syndrome 3
Paraganglioma and gastric stromal sarcoma
Pheochromocytoma
Paragangliomas 1
Carcinoid tumors, intestinal
SERPINH1 Osteogenesis imperfecta, type X
SLC22A12 Hypouricemia, renal 1
SLC35C1 Congenital disorder of glycosylation, type IIc
Leukocyte adhesion deficiency, type II
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
TRPC6 Focal segmental glomerulosclerosis 2
TYR Albinism, oculocutaneous, type IA
Albinism, oculocutaneous, type IB
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: 568
Number of Genes: 166

Export to: CSV

ABCC8
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 chu17257-cha-zoe_s2 11 rs1799858
dbSNP Clinvar 		17449929 983.03 C T PASS 0/1 106 SYNONYMOUS_CODING LOW None 0.20208 0.20210 0.15671 None None None None None None ABCC8|0.967482639|1.79%
View chu17257-cha-zoe_s2 11 rs1805036
dbSNP Clinvar 		17434284 1306.37 G A PASS 0/1 105 SYNONYMOUS_CODING LOW None 0.12021 0.12020 0.14970 None None None None None None ABCC8|0.967482639|1.79%
View chu17257-cha-zoe_s2 11 rs1799857
dbSNP Clinvar 		17452492 1696.72 G A PASS 1/1 58 SYNONYMOUS_CODING LOW None 0.42991 0.42990 0.45873 None None None None None None ABCC8|0.967482639|1.79%

ACAT1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 11 rs3741056
dbSNP Clinvar 		107992346 300.54 G C PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.33187 0.33190 0.20971 0.02 0.10 None None None None None None ACAT1|0.138678583|44.58%

ACCS
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 chu17257-cha-zoe_s2 11 rs3107275
dbSNP Clinvar 		44104981 2199.05 C T PASS 1/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.40375 0.40380 0.41512 0.23 0.03 None None None None None None ACCS|0.034927707|67.49%
View chu17257-cha-zoe_s2 11 rs7950395
dbSNP Clinvar 		44101118 1074.77 C T PASS 0/1 125 SYNONYMOUS_CODING LOW None 0.11422 0.11420 0.13063 None None None None None None ACCS|0.034927707|67.49%
View chu17257-cha-zoe_s2 11 rs33952257
dbSNP Clinvar 		44089352 1682.29 G A PASS 0/1 123 NON_SYNONYMOUS_CODING MODERATE None 0.26737 0.26740 0.24174 0.25 0.00 None None None None None None ACCS|0.034927707|67.49%

ACTN3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 11 rs540874
dbSNP Clinvar 		66329732 2157.94 A G PASS 1/1 74 NON_SYNONYMOUS_CODING MODERATE None 0.58307 0.58310 0.37179 1.00 0.00 None None None None None None None
View chu17257-cha-zoe_s2 11 rs618838
dbSNP Clinvar 		66328719 986.31 T C PASS 1/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.60024 0.60020 0.36450 1.00 0.00 None None None None None None None
View chu17257-cha-zoe_s2 11 rs1815739
dbSNP Clinvar 		66328095 2093.23 T C PASS 1/1 70 STOP_LOST HIGH None 0.59924 0.59920 0.35908 None None None None None None None
View chu17257-cha-zoe_s2 11 rs2229455
dbSNP Clinvar 		66328055 601.4 A G PASS 0/1 55 SYNONYMOUS_CODING LOW None 0.16274 0.16270 0.15931 None None None None None None None
View chu17257-cha-zoe_s2 11 rs1671064
dbSNP Clinvar 		66327673 2602.57 G A PASS 1/1 90 NON_SYNONYMOUS_CODING MODERATE None 0.58646 0.58650 0.36660 1.00 0.00 None None None None None None None
View chu17257-cha-zoe_s2 11 rs77239910
dbSNP Clinvar 		66329639 790.36 G A PASS 0/1 59 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.08047 0.08047 0.11645 None None None None None None None
View chu17257-cha-zoe_s2 11 rs2229456
dbSNP Clinvar 		66328741 603.24 A C PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.16274 0.16270 0.15644 0.00 0.99 None None None None None None None

AIP
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 chu17257-cha-zoe_s2 11 rs4930199
dbSNP Clinvar 		67258391 1804.32 A G PASS 1/1 65 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%
View chu17257-cha-zoe_s2 11 rs641081
dbSNP Clinvar 		67257823 2445.8 C A PASS 1/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.84545 0.84540 0.16574 1.00 0.00 None None None None None None AIP|0.191995289|37.6%

ALG8
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 chu17257-cha-zoe_s2 11 rs640016
dbSNP Clinvar 		77813941 94.55 T C SB;LowDP 0/1 14 None None None 0.26038 0.26040 None None None None None None ALG8|0.271828489|29.77%
View chu17257-cha-zoe_s2 11 rs665278
dbSNP Clinvar 		77825320 268.36 T C PASS 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.14637 0.14640 0.17653 0.54 0.00 None None None None None None ALG8|0.271828489|29.77%

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 chu17257-cha-zoe_s2 11 rs10708475
dbSNP Clinvar 		111742145 1185.24 CG C PASS 1/1 27 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
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 11 rs3802805
dbSNP Clinvar 		44286566 889.43 G A PASS 0/1 78 SYNONYMOUS_CODING LOW None 0.35843 0.35840 0.27461 None None None None None None ALX4|0.690991356|8.75%
View chu17257-cha-zoe_s2 11 rs10769028
dbSNP Clinvar 		44297054 2114.34 T C PASS 1/1 80 SYNONYMOUS_CODING LOW None 0.99161 0.99160 0.00877 None None None None None None ALX4|0.690991356|8.75%
View chu17257-cha-zoe_s2 11 rs11037928
dbSNP Clinvar 		44296946 377.68 C T PASS 0/1 42 SYNONYMOUS_CODING LOW None 0.05871 0.05871 0.10166 None None None None None None ALX4|0.690991356|8.75%

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 chu17257-cha-zoe_s2 11 rs3858418
dbSNP Clinvar 		101771248 1857.98 G A PASS 1/1 66 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 11 rs11604671
dbSNP Clinvar 		113268059 579.98 G A PASS 0/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.22624 0.22620 0.37467 0.61 0.00 None None None None None None ANKK1|0.031328783|68.87%
View chu17257-cha-zoe_s2 11 rs17115439
dbSNP Clinvar 		113264272 1200.89 T C PASS 0/1 114 SYNONYMOUS_CODING LOW None 0.52596 0.52600 0.39937 None None None None None None ANKK1|0.031328783|68.87%
View chu17257-cha-zoe_s2 11 rs35877321
dbSNP Clinvar 		113264382 911.68 G A PASS 0/1 94 NON_SYNONYMOUS_CODING MODERATE None 0.00419 0.00419 0.00942 0.31 0.01 None None None None None None ANKK1|0.031328783|68.87%
View chu17257-cha-zoe_s2 11 rs4938013
dbSNP Clinvar 		113264470 830.88 A C PASS 0/1 58 SYNONYMOUS_CODING LOW None 0.66054 0.66050 0.28420 None None None None None None ANKK1|0.031328783|68.87%
View chu17257-cha-zoe_s2 11 rs4938016
dbSNP Clinvar 		113270015 891.22 G C PASS 0/1 76 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 chu17257-cha-zoe_s2 11 rs2734849
dbSNP Clinvar 		113270160 1622.66 A G PASS 0/1 125 NON_SYNONYMOUS_CODING MODERATE None 0.24501 0.24500 0.39192 0.85 0.00 None None None None None None ANKK1|0.031328783|68.87%
View chu17257-cha-zoe_s2 11 rs2734848
dbSNP Clinvar 		113270374 784.8 C T PASS 0/1 76 SYNONYMOUS_CODING LOW None 0.00060 0.00060 0.24391 None None None None None None ANKK1|0.031328783|68.87%

ANO5
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 chu17257-cha-zoe_s2 11 rs4312063
dbSNP Clinvar 		22242729 406.99 T C PASS 0/1 45 SYNONYMOUS_CODING LOW None 0.78994 0.78990 0.15557 None None None None None None ANO5|0.057436384|60.57%

APLNR
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 chu17257-cha-zoe_s2 11 rs948847
dbSNP Clinvar 		57004344 1290.3 G T PASS 0/1 118 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 11 rs5092
dbSNP Clinvar 		116693464 2320.21 C T PASS 1/1 85 SYNONYMOUS_CODING LOW None 0.71985 0.71980 0.16146 None None None None None None APOA4|0.026315681|71.18%
View chu17257-cha-zoe_s2 11 rs5104
dbSNP Clinvar 		116692334 3021.99 C T PASS 1/1 78 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 chu17257-cha-zoe_s2 11 rs675
dbSNP Clinvar 		116691675 2591.81 T A PASS 0/1 206 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.09884 0.16854 0.36 0.01 None None None None None None APOA4|0.026315681|71.18%

APOA5
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 chu17257-cha-zoe_s2 11 rs12287066
dbSNP Clinvar 		116662331 892.73 G T PASS 0/1 65 SYNONYMOUS_CODING LOW None 0.09066 0.09065 0.10239 None None None None None None APOA5|0.044218283|64.44%
View chu17257-cha-zoe_s2 11 rs3135506
dbSNP Clinvar 		116662407 891.87 G C PASS 0/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.05571 0.05571 0.06365 0.00 0.82 None None None None None None APOA5|0.044218283|64.44%

APOC3
Omim - GeneCards - NCBI
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 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 11 rs4520
dbSNP Clinvar 		116701535 1641.16 T C PASS 0/1 140 SYNONYMOUS_CODING LOW None 0.59705 0.59700 0.25935 None None None None None None APOC3|0.026161452|71.25%

ATM
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 chu17257-cha-zoe_s2 11 rs659243
dbSNP Clinvar 		108183167 1805.92 A G PASS 1/1 69 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 11 rs539765
dbSNP Clinvar 		117160347 2488.17 A G PASS 1/1 84 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%

BBS1
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 chu17257-cha-zoe_s2 11 rs2298806
dbSNP Clinvar 		66282095 1038.02 G A PASS 1/1 32 SYNONYMOUS_CODING LOW None 0.21166 0.21170 0.19761 None None None None None None BBS1|0.166866458|40.7%
View chu17257-cha-zoe_s2 11 rs3816492
dbSNP Clinvar 		66297363 2807.41 C T PASS 1/1 101 SYNONYMOUS_CODING LOW None 0.14337 0.14340 0.16851 None None None None None None BBS1|0.166866458|40.7%,ZDHHC24|0.03559777|67.28%

BDNF
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 chu17257-cha-zoe_s2 11 rs2353512
dbSNP Clinvar 		27679662 607.91 T C LowDP 1/1 16 SYNONYMOUS_CODING LOW None 0.99521 0.99520 0.00392 None None None None None None BDNF|0.999919401|0.18%
View chu17257-cha-zoe_s2 11 rs6265
dbSNP Clinvar 		27679916 293.39 C T PASS 0/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.20128 0.20130 0.14029 0.46 0.13 None None None None None None BDNF|0.999919401|0.18%

BEST1
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 chu17257-cha-zoe_s2 11 rs1800008
dbSNP Clinvar 		61730183 2504.63 C T PASS 0/1 187 SYNONYMOUS_CODING LOW None 0.10144 0.10140 0.17051 None None None None None None BEST1|0.0975286|51.61%,FTH1|0.995222163|0.79%
View chu17257-cha-zoe_s2 11 rs17185413
dbSNP Clinvar 		61730553 367.77 T C SB;LowDP 1/1 10 NON_SYNONYMOUS_CODING MODERATE None 0.10443 0.10440 0.19076 0.00 0.00 None None None None None None BEST1|0.0975286|51.61%,FTH1|0.995222163|0.79%
View chu17257-cha-zoe_s2 11 rs1800009
dbSNP Clinvar 		61730234 5553.33 T C PASS 1/1 176 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%

BRSK2
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 chu17257-cha-zoe_s2 11 rs4963048
dbSNP Clinvar 		1481930 643.53 A G PASS 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None BRSK2|0.058480152|60.26%
View chu17257-cha-zoe_s2 11 rs61868960
dbSNP Clinvar 		1432691 1768.89 T C PASS 1/1 64 SYNONYMOUS_CODING LOW None 0.27796 0.27800 0.45844 None None None None None None BRSK2|0.058480152|60.26%
View chu17257-cha-zoe_s2 11 rs200368980
dbSNP Clinvar 		1471027 694.36 C G PASS 0/1 66 SYNONYMOUS_CODING LOW None 0.00048 None None None None None None BRSK2|0.058480152|60.26%

BSCL2
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 chu17257-cha-zoe_s2 11 rs6856
dbSNP Clinvar 		62458275 977.67 T C PASS 0/1 79 SYNONYMOUS_CODING LOW None 0.13498 0.13500 0.18328 None None None None None None BSCL2|0.09973617|51.22%

CALCA
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 chu17257-cha-zoe_s2 11 rs5239
dbSNP Clinvar 		14991539 1956.27 T C PASS 1/1 69 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 11 rs580253
dbSNP Clinvar 		104900488 1118.07 G A PASS 0/1 118 SYNONYMOUS_CODING LOW None 0.11582 0.11580 0.14067 None None None None None None CASP1|0.07166837|57.06%
View chu17257-cha-zoe_s2 11 rs539595
dbSNP Clinvar 		104905047 1985.81 G A PASS 0/1 122 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 11 rs647039
dbSNP Clinvar 		104761206 4514.73 C T PASS 1/1 154 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 chu17257-cha-zoe_s2 11 rs555367
dbSNP Clinvar 		104768098 1809.23 T C PASS 1/1 55 SYNONYMOUS_CODING LOW None 0.98982 0.98980 None None None None None None CASP12|0.001761043|91.65%
View chu17257-cha-zoe_s2 11 rs693001
dbSNP Clinvar 		104768000 1480.6 G A PASS 1/1 45 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 chu17257-cha-zoe_s2 11 rs497116
dbSNP Clinvar 		104763117 4065.0 G A PASS 1/1 131 STOP_GAINED HIGH None 0.94848 0.94850 None None None None None None CASP12|0.001761043|91.65%

CASP5
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 chu17257-cha-zoe_s2 11 rs523104
dbSNP Clinvar 		104869708 661.18 G C PASS 0/1 50 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%
View chu17257-cha-zoe_s2 11 rs45483102
dbSNP Clinvar 		104879658 1303.76 T A PASS 0/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.00779 0.00779 0.03016 0.14 0.97 None None None None None None CASP5|0.002670175|89.33%
View chu17257-cha-zoe_s2 11 rs507879
dbSNP Clinvar 		104877927 2623.73 T C PASS 1/1 79 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%

CATSPER1
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 chu17257-cha-zoe_s2 11 rs3814747
dbSNP Clinvar 		65788072 4024.49 C T PASS 1/1 141 NON_SYNONYMOUS_CODING MODERATE None 0.93650 0.93650 0.03756 0.05 0.02 None None None None None None CATSPER1|0.002272512|90.24%
View chu17257-cha-zoe_s2 11 rs2845570
dbSNP Clinvar 		65790527 1006.03 G T PASS 1/1 28 SYNONYMOUS_CODING LOW None 0.43191 0.43190 0.45452 None None None None None None CATSPER1|0.002272512|90.24%

CCND1
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 chu17257-cha-zoe_s2 11 rs9344
dbSNP Clinvar 		69462910 408.91 G A PASS 0/1 46 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.41354 0.41350 0.38674 None None None None None None CCND1|0.99996103|0.13%

CD3E
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 chu17257-cha-zoe_s2 11 rs1126924
dbSNP Clinvar 		118178007 1466.86 C T PASS 0/1 114 SYNONYMOUS_CODING LOW None 0.22544 0.22540 0.24061 None None None None None None CD3E|0.004279672|86.63%

CD44
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 chu17257-cha-zoe_s2 11 rs9666607
dbSNP Clinvar 		35226155 1014.8 A G PASS 1/1 37 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 chu17257-cha-zoe_s2 11 rs1467558
dbSNP Clinvar 		35229673 2118.24 T C PASS 1/1 71 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 11 rs637186
dbSNP Clinvar 		60892606 3147.67 A G PASS 1/1 117 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 chu17257-cha-zoe_s2 11 rs2241002
dbSNP Clinvar 		60886913 943.8 C T PASS 0/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.17193 0.17190 0.20978 0.09 0.00 None None None None None None CD5|0.018723395|74.85%

CDON
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 chu17257-cha-zoe_s2 11 rs3740904
dbSNP Clinvar 		125848261 815.68 C T PASS 0/1 66 SYNONYMOUS_CODING LOW None 0.39956 0.39960 0.35646 None None None None None None CDON|0.175863279|39.54%
View chu17257-cha-zoe_s2 11 rs516664
dbSNP Clinvar 		125871735 469.47 C T PASS 0/1 37 SYNONYMOUS_CODING LOW None 0.30252 0.30250 0.34539 None None None None None None CDON|0.175863279|39.54%
View chu17257-cha-zoe_s2 11 rs684535
dbSNP Clinvar 		125830970 1490.51 A T PASS 1/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.27000 1.00 0.00 None None None None None None CDON|0.175863279|39.54%

CPT1A
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 chu17257-cha-zoe_s2 11 rs2228502
dbSNP Clinvar 		68549340 2070.04 A G PASS 0/1 132 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 11 rs2071460
dbSNP Clinvar 		11374269 4083.07 A G PASS 1/1 127 NON_SYNONYMOUS_CODING MODERATE None 0.42053 0.42050 0.02 1.00 None None None None None None GALNT18|0.62810621|10.85%,CSNK2A3|0.018335412|75.05%
View chu17257-cha-zoe_s2 11 rs1056951
dbSNP Clinvar 		11373808 5937.6 T G PASS 1/1 194 NON_SYNONYMOUS_CODING MODERATE None 0.94808 0.94810 0.07 0.94 None None None None None None GALNT18|0.62810621|10.85%,CSNK2A3|0.018335412|75.05%
View chu17257-cha-zoe_s2 11 rs4243927
dbSNP Clinvar 		11373925 5156.67 A C PASS 1/1 159 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%
View chu17257-cha-zoe_s2 11 rs2071461
dbSNP Clinvar 		11373960 4848.97 C T PASS 1/1 153 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 chu17257-cha-zoe_s2 11 rs1056963
dbSNP Clinvar 		11373635 3878.22 C T PASS 1/1 119 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 chu17257-cha-zoe_s2 11 rs2896586
dbSNP Clinvar 		11374016 5425.87 T A PASS 1/1 167 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 chu17257-cha-zoe_s2 11 rs7945066
dbSNP Clinvar 		11373587 3323.98 A G PASS 1/1 105 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 chu17257-cha-zoe_s2 11 rs7948121
dbSNP Clinvar 		11373508 1956.49 T C PASS 1/1 58 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 chu17257-cha-zoe_s2 11 rs2896585
dbSNP Clinvar 		11374283 3968.13 T G PASS 1/1 124 NON_SYNONYMOUS_CODING MODERATE None 0.94609 0.94610 0.45 0.90 None None None None None None GALNT18|0.62810621|10.85%,CSNK2A3|0.018335412|75.05%

CTNND1
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 chu17257-cha-zoe_s2 11 rs10896644
dbSNP Clinvar 		57563991 1143.74 C T PASS 1/1 39 SYNONYMOUS_CODING LOW None 0.27137 0.27140 0.35002 None None None None None None CTNND1|0.831680077|5.07%
View chu17257-cha-zoe_s2 11 rs11229137
dbSNP Clinvar 		57571232 3351.79 C T PASS 1/1 103 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 11 rs217086
dbSNP Clinvar 		88045583 438.95 A G PASS 0/1 42 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%

CTSD
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 chu17257-cha-zoe_s2 11 rs138733377
dbSNP Clinvar 		1774757 1717.88 G T PASS 0/1 113 SYNONYMOUS_CODING LOW None 0.00419 0.00419 0.01354 None None None None None None CTSD|0.098615939|51.46%

CUL5
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 chu17257-cha-zoe_s2 11 rs7117111
dbSNP Clinvar 		107917087 1868.69 A G PASS 1/1 68 SYNONYMOUS_CODING LOW None 0.66214 0.66210 0.43014 None None None None None None CUL5|0.673651451|9.27%

CYP2R1
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 chu17257-cha-zoe_s2 11 rs12794714
dbSNP Clinvar 		14913575 2230.04 G A PASS 1/1 62 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.34924 0.34920 0.34162 None None None None None None CYP2R1|0.406542646|20.4%

DDB2
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 chu17257-cha-zoe_s2 11 rs326212
dbSNP Clinvar 		47238522 1455.82 T C PASS 1/1 45 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View chu17257-cha-zoe_s2 11 rs683155
dbSNP Clinvar 		125788678 482.19 T C PASS 0/1 37 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
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 chu17257-cha-zoe_s2 11 rs10902188
dbSNP Clinvar 		654043 596.47 G A PASS 0/1 42 SYNONYMOUS_CODING LOW None 0.10344 0.10340 0.07389 None None None None None None DEAF1|0.01654609|76.16%
View chu17257-cha-zoe_s2 11 rs117691319
dbSNP Clinvar 		686888 802.96 G A PASS 0/1 76 SYNONYMOUS_CODING LOW None 0.00359 0.00359 0.00961 None None None None None None DEAF1|0.01654609|76.16%

DHCR7
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 chu17257-cha-zoe_s2 11 rs949177
dbSNP Clinvar 		71152461 1524.33 A G PASS 1/1 46 SYNONYMOUS_CODING LOW None 0.80731 0.80730 0.09001 None None None None None None DHCR7|0.081765547|54.8%
View chu17257-cha-zoe_s2 11 rs1790334
dbSNP Clinvar 		71155153 3049.54 A G PASS 1/1 112 SYNONYMOUS_CODING LOW None 0.81010 0.81010 0.08708 None None None None None None DHCR7|0.081765547|54.8%
View chu17257-cha-zoe_s2 11 rs760241
dbSNP Clinvar 		71146691 3484.49 A G PASS 1/1 110 SYNONYMOUS_CODING LOW None 0.75639 0.75640 0.12881 None None None None None None DHCR7|0.081765547|54.8%

DKK3
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 chu17257-cha-zoe_s2 11 rs3206824
dbSNP Clinvar 		11986061 3944.63 T C PASS 1/1 140 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
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 chu17257-cha-zoe_s2 11 rs6277
dbSNP Clinvar 		113283459 1998.01 G A PASS 0/1 151 SYNONYMOUS_CODING LOW None 0.24401 0.24400 0.40888 None None None None None None DRD2|0.941392484|2.43%
View chu17257-cha-zoe_s2 11 rs6275
dbSNP Clinvar 		113283477 1556.94 A G PASS 0/1 119 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
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 chu17257-cha-zoe_s2 11 rs3889692
dbSNP Clinvar 		640090 67.75 G C LowDP 0/1 7 NON_SYNONYMOUS_CODING MODERATE None 0.18031 0.18030 0.42 0.00 None None None None None None DRD4|0.015467826|76.84%
View chu17257-cha-zoe_s2 11 rs34662058
dbSNP Clinvar 		640099 115.37 A G LowGQ;LowDP 0/1 7 NON_SYNONYMOUS_CODING MODERATE None 0.26098 0.26100 0.40 0.00 None None None None None None DRD4|0.015467826|76.84%