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Genes:
AC008948.1, AC010441.1, AC026703.1, ACOT12, ADAM19, ADAMTS16, ADAMTS19, ADAMTS2, ADCY2, ADRA1B, ADRB2, AFF4, AGXT2, AHRR, ALDH7A1, AMACR, ANKRD31, ANKRD32, ANKRD34B, ANXA6, AP3B1, AP3S1, APBB3, APC, AQPEP, ARAP3, ARHGAP26, ARHGEF28, ARHGEF37, ARL10, ARSB, ARSI, ATG10, ATP10B, B4GALT7, BDP1, BHMT, BRD8, BRD9, BTF3, BTNL3, BTNL8, BTNL9, C5orf34, C5orf38, C5orf42, C5orf45, C5orf46, C5orf52, C5orf55, C5orf58, C5orf60, C5orf64, C6, C7, C9, CAMK2A, CAMK4, CAPSL, CARD6, CAST, CATSPER3, CBY3, CCDC125, CCDC69, CCNB1, CCNH, CCT5, CD180, CDC20B, CDC25C, CDH12, CDH18, CDH6, CDH9, CDHR2, CDK7, CEP72, CHSY3, CMYA5, CNOT6, COL23A1, COMMD10, CSF1R, CSF2, CTD-2228K2.5, CTXN3, CWC27, CYFIP2, DAB2, DAP, DBN1, DCP2, DCTN4, DDX4, DDX41, DIMT1, DMGDH, DMXL1, DNAH5, DNAJC18, DOCK2, DPYSL3, DRD1, DROSHA, DUSP1, EBF1, EGFLAM, ELL2, ENC1, EPB41L4A, EPB41L4A-AS2, ERAP1, ERAP2, ERBB2IP, EXOC3, F12, F2RL1, FAM114A2, FAM134B, FAM13B, FAM151B, FAM153A, FAM153B, FAM159B, FAM170A, FAM173B, FAM174A, FAM193B, FAM196B, FAM81B, FASTKD3, FAT2, FAXDC2, FBN2, FBXL21, FBXO38, FER, FGFR4, FLT4, FNDC9, FNIP1, FOXI1, FSTL4, FYB, GABRA1, GABRA6, GABRB2, GABRG2, GABRP, GCNT4, GDF9, GEMIN5, GFPT2, GHR, GIN1, GM2A, GPBP1, GPR151, GPR98, GPRIN1, GPX3, GPX8, GRAMD3, GRK6, GRM6, GRXCR2, GZMA, HAPLN1, HAVCR1, HAVCR2, HEXB, HIGD2A, HK3, HMGCS1, HMGXB3, HMMR, HSD17B4, HSPA4, HSPA9, HSPB3, IL13, IL3, IL31RA, IL7R, IPO11, IQGAP2, IRF1, IRX1, IRX2, IRX4, ISL1, ITGA1, ITGA2, JMY, KCNN2, KCTD16, KDM3B, KIAA0141, KIAA0825, KIAA0947, KIF4B, KLHL3, LARS, LCP2, LHFPL2, LMNB1, LNPEP, LOX, LPCAT1, LYSMD3, MAML1, MAN2A1, MAP1B, MAP3K1, MARVELD2, MAST4, MBLAC2, MCC, MCCC2, MCTP1, MEGF10, MFAP3, MGAT1, MGAT4B, MIER3, MOCS2, MROH2B, MRPL22, MSH3, MTRR, MYO10, MYOZ3, N4BP3, NAIP, NDST1, NDUFAF2, NDUFS4, NIM1K, NIPAL4, NKD2, NKX2-5, NLN, NMUR2, NNT, NOP16, NSD1, NSUN2, NUDT12, NUP155, OR2V2, OR2Y1, OTP, PAM, PAPD7, PARP8, PCDH1, PCDH12, PCDHA1, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHAC1, PCDHAC2, PCDHB10, PCDHB16, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB8, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA2, PCDHGA3, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB2, PCDHGB3, PCDHGB6, PCDHGB7, PCDHGC3, PCSK1, PDCD6, PDE6A, PDE8B, PDGFRB, PDLIM4, PDLIM7, PDZD2, PELO, PJA2, PKD2L2, PLAC8L1, PLEKHG4B, POC5, PPARGC1B, PPIP5K2, PPWD1, PRDM6, PRDM9, PROB1, PROP1, PRR16, PRRC1, PSD2, PWWP2A, RAI14, RANBP17, RANBP3L, RARS, RASGEF1C, REEP5, RFESD, RGMB, RGS7BP, RHOBTB3, RICTOR, RIOK2, RNF180, RPL26L1, RUFY1, S100Z, SCAMP1, SDHA, SEMA5A, SEMA6A, SEPT8, SERINC5, SETD9, SGCD, SH3PXD2B, SH3RF2, SH3TC2, SHROOM1, SKP2, SLC12A7, SLC22A4, SLC22A5, SLC23A1, SLC25A2, SLC25A48, SLC26A2, SLC27A6, SLC30A5, SLC36A1, SLC36A2, SLC36A3, SLC38A9, SLC45A2, SLC4A9, SLC6A18, SLC6A19, SLC6A3, SLC6A7, SLC9A3, SLCO4C1, SLCO6A1, SLIT3, SLU7, SMAD5, SNX18, SOWAHA, SPATA9, SPEF2, SPINK1, SPINK5, SPINK6, SPRY4, SPZ1, SQSTM1, SRA1, SRD5A1, SSBP2, STK10, STK32A, TBC1D9B, TCF7, TCOF1, TENM2, TERT, THBS4, THG1L, THOC3, TIGD6, TIMD4, TMEM171, TMEM173, TNFAIP8, TNPO1, TPPP, TRIM36, TRIM41, TRIM52, TRIM7, TRIO, TRPC7, TTC23L, TTC37, UIMC1, UTP15, VCAN, WDR36, WDR55, WNT8A, WWC1, YTHDC2, ZCCHC9, ZDHHC11, ZFP2, ZFP62, ZFR, ZFYVE16, ZNF354A, ZNF354C, ZNF366, ZNF454, ZNF474, ZNF608,

Genes at Omim

ADAMTS2, ADRB2, AFF4, AGXT2, ALDH7A1, AMACR, AP3B1, APC, ARHGAP26, ARSB, B4GALT7, BDP1, C6, C7, C9, CAMK2A, CAST, CCT5, CSF1R, CWC27, CYFIP2, DDX41, DMGDH, DNAH5, DOCK2, F12, FAM134B, FAT2, FBN2, FBXO38, FGFR4, FLT4, FOXI1, FYB, GABRA1, GABRB2, GABRG2, GDF9, GHR, GM2A, GRM6, GRXCR2, HEXB, HMMR, HSD17B4, HSPA9, HSPB3, IL13, IL31RA, IL7R, IRF1, ITGA2, KLHL3, LARS, LMNB1, LOX, MAP3K1, MARVELD2, MCC, MCCC2, MEGF10, MOCS2, MSH3, MTRR, NDST1, NDUFAF2, NDUFS4, NIPAL4, NKX2-5, NNT, NSD1, NSUN2, NUP155, PCDH12, PCSK1, PDE6A, PDE8B, PDGFRB, PPARGC1B, PRDM6, PROP1, RARS, SDHA, SGCD, SH3PXD2B, SH3TC2, SLC22A4, SLC22A5, SLC26A2, SLC36A2, SLC45A2, SLC6A19, SLC6A3, SLC9A3, SPINK1, SPINK5, SPRY4, SQSTM1, TCOF1, TERT, TMEM173, TRIM36, TRIO, TTC37, VCAN, WDR36, WWC1,
ADAMTS2 Ehlers-Danlos syndrome, dermatosparaxis type, 225410 (3)
ADRB2 Beta-2-adrenoreceptor agonist, reduced response to (3)
{Obesity, susceptibility to}, 601665 (3)
{Asthma, nocturnal, susceptibility to}, 600807 (3)
AFF4 CHOPS syndrome, 616368 (3)
AGXT2 [Beta-aminoisobutyric acid, urinary excretion of], 210100 (3)
ALDH7A1 Epilepsy, pyridoxine-dependent, 266100 (3)
AMACR Alpha-methylacyl-CoA racemase deficiency, 614307 (3)
Bile acid synthesis defect, congenital, 4, 214950 (3)
AP3B1 Hermansky-Pudlak syndrome 2, 608233 (3)
APC Adenoma, periampullary, somatic (3)
Adenomatous polyposis coli, 175100 (3)
Gardner syndrome, 175100 (3)
Gastric cancer, somatic, 613659 (3)
Brain tumor-polyposis syndrome 2, 175100 (3)
Hepatoblastoma, somatic, 114550 (3)
Colorectal cancer, somatic, 114500 (3)
Desmoid disease, hereditary, 135290 (3)
ARHGAP26 Leukemia, juvenile myelomonocytic, somatic, 607785 (3)
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3)
B4GALT7 Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070 (3)
BDP1 ?Deafness, autosomal recessive 112, 618257 (3)
C6 C6 deficiency, 612446 (3)
Combined C6/C7 deficiency (3)
C7 C7 deficiency, 610102 (3)
C9 C9 deficiency, 613825 (3)
{Macular degeneration, age-related, 15, susceptibility to}, 615591 (3)
CAMK2A Mental retardation, autosomal dominant 53, 617798 (3)
?Mental retardation, autosomal recessive 63, 618095 (3)
CAST Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295 (3)
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)
CSF1R Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 (3)
CWC27 Retinitis pigmentosa with or without skeletal anomalies, 250410 (3)
CYFIP2 Epileptic encephalopathy, early infantile, 65, 618008 (3)
DDX41 {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}, 616871 (3)
DMGDH Dimethylglycine dehydrogenase deficiency, 605850 (3)
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
DOCK2 Immunodeficiency 40, 616433 (3)
F12 Factor XII deficiency, 234000 (3)
Angioedema, hereditary, type III, 610618 (3)
FAM134B Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3)
FAT2 Spinocerebellar ataxia 45, 617769 (3)
FBN2 Contractural arachnodactyly, congenital, 121050 (3)
Macular degeneration, early-onset, 616118 (3)
FBXO38 Neuronopathy, distal hereditary motor, type IID, 615575 (3)
FGFR4 {Cancer progression/metastasis} (3)
FLT4 Hemangioma, capillary infantile, somatic, 602089 (3)
Lymphatic malformation 1, 153100 (3)
FOXI1 Enlarged vestibular aqueduct, 600791 (3)
FYB Thrombocytopenia 3, 273900 (3)
GABRA1 Epileptic encephalopathy, early infantile, 19, 615744 (3)
{Epilepsy, childhood absence, susceptibility to, 4}, 611136 (3)
{Epilepsy, juvenile myoclonic, susceptibility to, 5}, 611136 (3)
GABRB2 Epileptic encephalopathy, infantile or early childhood, 2, 617829 (3)
GABRG2 Febrile seizures, familial, 8, 611277 (3)
Epilepsy, generalized, with febrile seizures plus, type 3, 611277 (3)
{Epilepsy, childhood absence, susceptibility to, 2}, 607681 (3)
GDF9 ?Premature ovarian failure 14, 618014 (3)
GHR {Hypercholesterolemia, familial, modifier of}, 143890 (3)
Growth hormone insensitivity, partial, 604271 (3)
Increased responsiveness to growth hormone, 604271 (3)
Laron dwarfism, 262500 (3)
GM2A GM2-gangliosidosis, AB variant, 272750 (3)
GRM6 Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 (3)
GRXCR2 ?Deafness, autosomal recessive 101, 615837 (3)
HEXB Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3)
HMMR {Breast cancer, susceptibility to}, 114480 (3)
HSD17B4 D-bifunctional protein deficiency, 261515 (3)
Perrault syndrome 1, 233400 (3)
HSPA9 Anemia, sideroblastic, 4, 182170 (3)
Even-plus syndrome, 616854 (3)
HSPB3 ?Neuronopathy, distal hereditary motor, type IIC, 613376 (3)
IL13 {Allergic rhinitis, susceptibility to}, 607154 (3)
{Asthma, susceptibility to}, 600807 (3)
IL31RA ?Amyloidosis, primary localized cutaneous, 2, 613955 (3)
IL7R Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)
IRF1 Gastric cancer, somatic, 613659 (3)
Myelodysplastic syndrome, preleukemic (3)
Myelogenous leukemia, acute (3)
Nonsmall cell lung cancer, somatic, 211980 (3)
ITGA2 ?Glycoprotein Ia deficiency, 614200 (1)
KLHL3 Pseudohypoaldosteronism, type IID, 614495 (3)
LARS ?Infantile liver failure syndrome 1, 615438 (3)
LMNB1 Leukodystrophy, adult-onset, autosomal dominant, 169500 (3)
LOX Aortic aneurysm, familial thoracic 10, 617168 (3)
MAP3K1 46XY sex reversal 6, 613762 (3)
MARVELD2 Deafness, autosomal recessive 49, 610153 (3)
MCC Colorectal cancer, somatic, 114500 (3)
MCCC2 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 (3)
MEGF10 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3)
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 (3)
MOCS2 Molybdenum cofactor deficiency B, 252160 (3)
MSH3 Familial adenomatous polyposis 4, 617100 (3)
Endometrial carcinoma, somatic, 608089 (3)
MTRR Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3)
{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
NDST1 Mental retardation, autosomal recessive 46, 616116 (3)
NDUFAF2 Mitochondrial complex I deficiency, nuclear type 10, 618233 (3)
NDUFS4 Mitochondrial complex I deficiency, nuclear type 1, 252010 (3)
NIPAL4 Ichthyosis, congenital, autosomal recessive 6, 612281 (3)
NKX2-5 Atrial septal defect 7, with or without AV conduction defects, 108900 (3)
Hypoplastic left heart syndrome 2, 614435 (3)
Hypothyroidism, congenital nongoitrous, 5, 225250 (3)
Conotruncal heart malformations, variable, 217095 (3)
Tetralogy of Fallot, 187500 (3)
Ventricular septal defect 3, 614432 (3)
NNT Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 (3)
NSD1 Leukemia, acute myeloid, 601626 (1)
Sotos syndrome 1, 117550 (3)
NSUN2 Mental retardation, autosomal recessive 5, 611091 (3)
NUP155 ?Atrial fibrillation 15, 615770 (3)
PCDH12 Microcephaly, seizures, spasticity, and brain calcification, 251280 (3)
PCSK1 {Obesity, susceptibility to, BMIQ12}, 612362 (3)
Obesity with impaired prohormone processing, 600955 (3)
PDE6A Retinitis pigmentosa 43, 613810 (3)
PDE8B Pigmented nodular adrenocortical disease, primary, 3, 614190 (3)
Striatal degeneration, autosomal dominant, 609161 (3)
PDGFRB Basal ganglia calcification, idiopathic, 4, 615007 (3)
Kosaki overgrowth syndrome, 616592 (3)
Myeloproliferative disorder with eosinophilia, 131440 (4)
Myofibromatosis, infantile, 1, 228550 (3)
Premature aging syndrome, Penttinen type, 601812 (3)
PPARGC1B {Obesity, variation in}, 601665 (3)
PRDM6 Patent ductus arteriosus 3, 617039 (3)
PROP1 Pituitary hormone deficiency, combined, 2, 262600 (3)
RARS Leukodystrophy, hypomyelinating, 9, 616140 (3)
SDHA Cardiomyopathy, dilated, 1GG, 613642 (3)
Leigh syndrome, 256000 (3)
Mitochondrial respiratory chain complex II deficiency, 252011 (3)
Paragangliomas 5, 614165 (3)
SGCD Cardiomyopathy, dilated, 1L, 606685 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 6, 601287 (3)
SH3PXD2B Frank-ter Haar syndrome, 249420 (3)
SH3TC2 Charcot-Marie-Tooth disease, type 4C, 601596 (3)
Mononeuropathy of the median nerve, mild, 613353 (3)
SLC22A4 {Rheumatoid arthritis, susceptibility to}, 180300 (3)
SLC22A5 Carnitine deficiency, systemic primary, 212140 (3)
SLC26A2 Atelosteogenesis, type II, 256050 (3)
Achondrogenesis Ib, 600972 (3)
De la Chapelle dysplasia, 256050 (3)
Diastrophic dysplasia, 222600 (3)
Diastrophic dysplasia, broad bone-platyspondylic variant, 222600 (3)
Epiphyseal dysplasia, multiple, 4, 226900 (3)
SLC36A2 Hyperglycinuria, 138500 (3)
Iminoglycinuria, digenic, 242600 (3)
SLC45A2 Albinism, oculocutaneous, type IV, 606574 (3)
[Skin/hair/eye pigmentation 5, black/nonblack hair], 227240 (3)
[Skin/hair/eye pigmentation 5, dark/fair skin], 227240 (3)
[Skin/hair/eye pigmentation 5, dark/light eyes], 227240 (3)
SLC6A19 Hartnup disorder, 234500 (3)
Hyperglycinuria, 138500 (3)
Iminoglycinuria, digenic, 242600 (3)
SLC6A3 {Nicotine dependence, protection against}, 188890 (3)
Parkinsonism-dystonia, infantile, 1, 613135 (3)
SLC9A3 Diarrhea 8, secretory sodium, congenital, 616868 (3)
SPINK1 {Fibrocalculous pancreatic diabetes, susceptibility to}, 608189 (3)
Pancreatitis, hereditary, 167800 (3)
Tropical calcific pancreatitis, 608189 (3)
SPINK5 Netherton syndrome, 256500 (3)
SPRY4 Hypogonadotropic hypogonadism 17 with or without anosmia, 615266 (3)
SQSTM1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 (3)
Myopathy, distal, with rimmed vacuoles, 617158 (3)
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 (3)
Paget disease of bone 3, 167250 (3)
TCOF1 Treacher Collins syndrome 1, 154500 (3)
TERT {Leukemia, acute myeloid}, 601626 (3)
{Melanoma, cutaneous malignant, 9}, 615134 (3)
{Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742 (3)
{Dyskeratosis congenita, autosomal dominant 2}, 613989 (3)
{Dyskeratosis congenita, autosomal recessive 4}, 613989 (3)
TMEM173 STING-associated vasculopathy, infantile-onset, 615934 (3)
TRIM36 ?Anencephaly, 206500 (3)
TRIO Mental retardation, autosomal dominant 44, 617061 (3)
TTC37 Trichohepatoenteric syndrome 1, 222470 (3)
VCAN Wagner syndrome 1, 143200 (3)
WDR36 Glaucoma 1, open angle, G, 609887 (3)
WWC1 [Memory, enhanced, QTL], 615602 (3)

Genes at Clinical Genomics Database

ADAMTS2, ADRB2, AFF4, ALDH7A1, AMACR, AP3B1, APC, ARSB, B4GALT7, C6, C7, C9, CAST, CCT5, CSF1R, DDX41, DMGDH, DNAH5, DOCK2, F12, FAM134B, FBN2, FBXO38, FLT4, FOXI1, GABRA1, GABRG2, GHR, GM2A, GRM6, GRXCR2, HEXB, HSD17B4, HSPA9, HSPB3, IL31RA, IL7R, KLHL3, LARS, LMNB1, MAP3K1, MARVELD2, MCCC2, MEGF10, MOCS2, MSH3, MTRR, NDST1, NDUFAF2, NDUFS4, NIPAL4, NKX2-5, NNT, NSD1, NUP155, PCSK1, PDE6A, PDE8B, PDGFRB, PROP1, RARS, SDHA, SGCD, SH3PXD2B, SH3TC2, SLC22A5, SLC26A2, SLC36A2, SLC45A2, SLC6A19, SLC6A3, SPINK1, SPINK5, SPRY4, SQSTM1, TCOF1, TERT, TMEM173, TTC37, VCAN,
ADAMTS2 Ehlers-Danlos syndrome, type VII
ADRB2 Beta-2-adrenoreceptor agonist, reduced response to
AFF4 Cognitive impairment, coarse facies, Heart defects, Obesity, Pulmonary involvement, Short stature, and skeletal dysplasia (CHOPS syndrome)
ALDH7A1 Epilepsy, pyridoxine-dependent
AMACR Bile acid synthesis defect, congenital, 4
Alpha-methylacyl-CoA racemase deficiency
AP3B1 Hermansky-Pudlak syndrome 2
APC Familial adenomatous polyposis
Gardner syndrome
Desmoid disease, hereditary
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy)
B4GALT7 Ehlers-Danlos syndrome with short stature and limb anomalies
C6 Complement component 6 deficiency
C7 Complement component 7 deficiency
C9 Complement component 9 deficiency
CAST Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (PLACK)
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia
CSF1R Leukoencephalopathy, diffuse hereditary, with spheroids
DDX41 Familial myeloproliferative/lymphoproliferative neoplasms, multiple types, susceptibility to
DMGDH Dimethylglycine dehydrogenase deficiency
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus
DOCK2 Immunodeficiency 40
F12 Angioedema, hereditary, type III
FAM134B Neuropathy, hereditary sensory and autonomic, type IIB
FBN2 Congenital contractural arachnodactyly (Beals syndrome)
FBXO38 Neuronopathy, distal hereditary motor, type IID
FLT4 Lymphedema, hereditary I (Milory disease)
FOXI1 Enlarged vestibular aqueduct
Pendred syndrome
GABRA1 Epilepsy, juvenile myoclonic, susceptibility to, 5
Epilepsy, childhood absence, susceptibility to, 4
Epileptic encephalopathy, early infantile 19
GABRG2 Dravet syndrome
Generalized epilepsy with febrile seizures plus, type 3
Familial febrile seizures 8
Epilepsy, childhood absence, susceptibility to, 2
GHR Growth hormone insensitivity syndrome (Laron syndrome)
GM2A GM2-gangliosidosis, AB variant
GRM6 Night blindness, congenital stationary, type 1B
GRXCR2 Deafness, autosomal recessive 101
HEXB Sandhoff disease
HSD17B4 Perrault syndrome
HSPA9 Anemia, sideroblastic 4
HSPB3 Neuronopathy, distal hereditary motor, type IIC
IL31RA Amyloidois, primary localized cutaneous, 2
IL7R Severe combined immunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK cell positive
KLHL3 Pseudohypoaldosteronism, type IID
LARS Infantile liver failure syndrome 1
LMNB1 Leukodystrophy, adult-onset, autosomal dominant
MAP3K1 46,XY sex reversal 6
MARVELD2 Deafness, autosomal recessive 49
MCCC2 3-Methylcrotonyl-CoA carboxylase 2 deficiency
MEGF10 Myopathy, early-onset, areflexia, respiratory distress, and dysphagia
MOCS2 Molybdenum cofactor deficiency, type B
MSH3 Endometrial carcinoma
MTRR Homocystinuria-megaloblastic anemia, cobalamin E type
NDST1 Mental retardation, autosomal recessive 46
NDUFAF2 Mitochondrial complex I deficiency
Leigh syndrome
NDUFS4 Mitochondrial complex I deficiency
Leigh syndrome
NIPAL4 Ichthyosis, congenital, autosomal recessive
NKX2-5 Atrial septal defect 7, with or without AV conduction defects
Conotruncal heart malformations
Hypothyroidism, congenital nongoitrous, 5
NNT Glucocorticoid deficiency 4
NSD1 Sotos syndrome
Weaver syndrome
Beckwith-Wiedemann syndrome
NUP155 Atrial fibrillation 15
PCSK1 Proprotein convertase 1/3 deficiency
PDE6A Retinitis pigmentosa 43
PDE8B Pigmented nodular adrenocortical disease, primary, 3
PDGFRB Basal ganglia calcification, idiopathic, 4
Kosaki overgrowth syndrome
Myofibromatosis, infantile 1
Premature aging syndrome, Penttinen type
PROP1 Pituitary hormone deficiency, combined, 2
RARS Leukodystrophy, hypomyelinating 9
SDHA Paragangliomas 5
Gastrointestinal stromal tumors
Cardiomyopathy, dilated, 1GG
Leigh syndrome/Mitochondrial respiratory chain complex II deficiency
SGCD Cardiomyopathy, dilated, 1L
Muscular dystrophy, limb-girdle, type 2F
SH3PXD2B Frank-ter Haar syndrome
SH3TC2 Charcot-Marie-Tooth disease, type 4C
Mononeuropathy of the median nerve, mild
SLC22A5 Carnitine deficiency, systemic primary
SLC26A2 Achondrogenesis, type IB
Atelosteogenesis II
De la Chapelle dysplasia
Diastrophic dysplasia
Epiphyseal dysplasia, multiple, 4
SLC36A2 Hyperglycinuria
Iminoglycinuria
Iminoglycinuria, digenic
SLC45A2 Oculocutaneous albinism, type IV
Skin/hair/eye pigmentation 5
SLC6A19 Hartnup disease
SLC6A3 Parkinsonism-dystonia, infantile
SPINK1 Pancreatitis, hereditary
SPINK5 Netherton syndrome
SPRY4 Hypogonadotropic hypogonadism 17, with or without anosmia
SQSTM1 Paget disease of bone 3
TCOF1 Treacher Collins syndrome 1
TERT Aplastic anemia
Dyskeratosis congenita, autosomal dominant
Dyskeratosis congenita, autosomal recessive
Pulmonary fibrosis and/or bone marrow failure, telomere-related 1
TMEM173 STING-associated vasculopathy, infantile-onsent (SAVI)
TTC37 Trichohepatoenteric syndrome 1
VCAN Wagner syndrome 1

Genes at HGMD

Summary

Number of Variants: 2514
Number of Genes: 430

Export to: CSV

AC008948.1

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 grc14378022_exome 5 rs11949650
dbSNP Clinvar
101570689 1116.05 G A . 0/1 43 SYNONYMOUS_CODING LOW None 0.27416 0.27420 None None None None None None SLCO4C1|0.038449749|66.31%
View grc14378022_exome 5 rs149085489
dbSNP Clinvar
101570503 1484.13 CT... C . 1/1 52 CODON_DELETION MODERATE None 0.40575 0.40580 None None None None None None SLCO4C1|0.038449749|66.31%
View grc14378022_exome 5 rs4703217
dbSNP Clinvar
101570491 1031.94 A G . 0/1 51 SYNONYMOUS_CODING LOW None 0.20467 0.20470 None None None None None None SLCO4C1|0.038449749|66.31%

AC010441.1

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 grc14378022_exome 5 rs12653537
dbSNP Clinvar
150158164 1484.13 C G . 0/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.15655 0.15650 0.08078 0.00 None None None None None None SMIM3|0.109216744|49.34%
View grc14378022_exome 5 rs12657686
dbSNP Clinvar
150158226 1484.13 A C . 0/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.15655 0.15650 0.07686 0.00 None None None None None None SMIM3|0.109216744|49.34%
View grc14378022_exome 5 rs12653541
dbSNP Clinvar
150158199 1484.13 C T . 0/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.15655 0.15650 0.07832 0.00 None None None None None None SMIM3|0.109216744|49.34%

AC026703.1

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 grc14378022_exome 5 rs1173756
dbSNP Clinvar
32789852 22.0745 T C . 0/1 38 SYNONYMOUS_CODING LOW None 0.62600 0.62600 0.40643 None None None None None None NPR3|0.308047181|26.99%

ACOT12

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 grc14378022_exome 5 rs10371
dbSNP Clinvar
80631642 1484.13 C T . 0/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.12021 0.12020 0.16869 0.14 0.06 None None None None None None ACOT12|0.05645284|60.8%

ADAM19

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 grc14378022_exome 5 rs10067096
dbSNP Clinvar
156917340 1484.13 A C . 0/1 75 NON_SYNONYMOUS_CODING MODERATE None 0.12041 0.12040 0.19660 0.30 0.17 None None None None None None ADAM19|0.121857186|47.16%
View grc14378022_exome 5 rs1422795
dbSNP Clinvar
156936364 1484.13 T C . 0/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.41454 0.41450 0.42873 0.23 0.03 None None None None None None ADAM19|0.121857186|47.16%
View grc14378022_exome 5 rs2287749
dbSNP Clinvar
156918850 1484.13 C T . 0/1 107 NON_SYNONYMOUS_CODING MODERATE None 0.05312 0.05312 0.10541 0.02 0.40 None None None None None None ADAM19|0.121857186|47.16%

ADAMTS16

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 grc14378022_exome 5 rs2086310
dbSNP Clinvar
5146335 1484.13 C G . 1/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.69549 0.69550 0.24077 1.00 0.00 None None None None None None ADAMTS16|0.017832591|75.4%
View grc14378022_exome 5 rs6555335
dbSNP Clinvar
5200281 1484.13 C T . 1/1 92 SYNONYMOUS_CODING LOW None 0.72524 0.72520 0.29491 None None None None None None ADAMTS16|0.017832591|75.4%
View grc14378022_exome 5 rs270208
dbSNP Clinvar
5140632 1484.13 T C . 1/1 45 SYNONYMOUS_CODING LOW None 0.62440 0.62440 0.40759 None None None None None None ADAMTS16|0.017832591|75.4%
View grc14378022_exome 5 rs1019747
dbSNP Clinvar
5146377 1484.13 T C . 1/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.49441 0.49440 0.44242 0.05 0.01 None None None None None None ADAMTS16|0.017832591|75.4%

ADAMTS19

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 grc14378022_exome 5 rs6595908
dbSNP Clinvar
128863471 319.079 A G . 1/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.99920 0.99920 0.00392 1.00 0.00 None None None None None None ADAMTS19|0.08763198|53.7%
View grc14378022_exome 5 rs11749126
dbSNP Clinvar
129040056 1484.13 A T . 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.07089 0.07089 0.13525 0.17 0.08 None None None None None None ADAMTS19|0.08763198|53.7%

ADAMTS2

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 grc14378022_exome 5 rs423552
dbSNP Clinvar
178634619 1484.13 C T . 0/1 180 SYNONYMOUS_CODING LOW None 0.92452 0.92450 0.08473 None None None None None None ADAMTS2|0.325728261|25.76%
View grc14378022_exome 5 rs398829
dbSNP Clinvar
178634672 1484.13 C T . 0/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.43191 0.43190 0.32516 0.48 0.00 None None None None None None ADAMTS2|0.325728261|25.76%
View grc14378022_exome 5 rs1054480
dbSNP Clinvar
178540975 1484.13 G A . 1/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.26378 0.26380 0.22174 0.71 0.01 None None None None None None ADAMTS2|0.325728261|25.76%
View grc14378022_exome 5 rs2278221
dbSNP Clinvar
178581859 1484.13 G A . 0/1 155 SYNONYMOUS_CODING LOW None 0.22844 0.22840 0.18691 None None None None None None ADAMTS2|0.325728261|25.76%

ADCY2

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 grc14378022_exome 5 rs62342477
dbSNP Clinvar
7743787 1484.13 C T . 1/1 57 SYNONYMOUS_CODING LOW None 0.32368 0.32370 0.49854 None None None None None None ADCY2|0.904669113|3.35%
View grc14378022_exome 5 rs13166360
dbSNP Clinvar
7520881 1484.13 G T . 0/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.09165 0.09165 0.19445 0.05 0.06 2.98 0.04 0.57246 D None None None None ADCY2|0.904669113|3.35%

ADRA1B

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 grc14378022_exome 5 rs3729604
dbSNP Clinvar
159344461 1484.13 G A . 0/1 79 SYNONYMOUS_CODING LOW None 0.20188 0.20190 0.17108 None None None None None None ADRA1B|0.287986878|28.52%
View grc14378022_exome 5 rs2229181
dbSNP Clinvar
159344083 1484.13 C T . 0/1 73 SYNONYMOUS_CODING LOW None 0.01398 0.01398 0.02714 None None None None None None ADRA1B|0.287986878|28.52%
View grc14378022_exome 5 rs3730284
dbSNP Clinvar
159344446 1484.13 C T . 0/1 84 SYNONYMOUS_CODING LOW None 0.01398 0.01398 0.02714 None None None None None None ADRA1B|0.287986878|28.52%

ADRB2

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 grc14378022_exome 5 rs1042714
dbSNP Clinvar
148206473 222.878 G C . 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.79573 0.79570 0.34000 0.47 0.01 None None None None None None ADRB2|0.766324239|6.71%
View grc14378022_exome 5 rs1042713
dbSNP Clinvar
148206440 61.478 G A . 0/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.47564 0.47560 0.41489 0.17 0.14 None None None None None None ADRB2|0.766324239|6.71%

AFF4

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 grc14378022_exome 5 rs739863
dbSNP Clinvar
132232315 1484.13 G A . 0/1 48 SYNONYMOUS_CODING LOW None 0.00040 0.10520 0.11772 None None None None None None AFF4|0.608388604|11.5%

AGXT2

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 grc14378022_exome 5 rs180749
dbSNP Clinvar
35033605 1484.13 G A . 1/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.87500 0.87500 0.05790 0.23 0.01 None None None None None None AGXT2|0.105323014|50.19%
View grc14378022_exome 5 rs37370
dbSNP Clinvar
35039486 1484.13 C T . 1/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.81050 0.81050 0.07220 0.36 0.00 None None None None None None AGXT2|0.105323014|50.19%
View grc14378022_exome 5 rs466067
dbSNP Clinvar
35010138 1484.13 A G . 1/1 44 SYNONYMOUS_CODING LOW None 0.89457 0.89460 0.04198 None None None None None None AGXT2|0.105323014|50.19%
View grc14378022_exome 5 rs2279651
dbSNP Clinvar
35039437 703.85 A G . 0/1 30 SYNONYMOUS_CODING LOW None 0.39916 0.39920 0.46063 None None None None None None AGXT2|0.105323014|50.19%

AHRR

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 grc14378022_exome 5 rs2303738
dbSNP Clinvar
433056 189.484 G T . 0/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.03454 0.03454 0.02089 0.17 0.00 None None None None None None AHRR|0.004021791|87%

ALDH7A1

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 grc14378022_exome 5 . 125887770 1039.87 A G . 0/1 44 SYNONYMOUS_CODING LOW None None None None None None None ALDH7A1|0.08379131|54.47%

AMACR

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 grc14378022_exome 5 rs2278008
dbSNP Clinvar
33989518 1484.13 C T . 0/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.69609 0.69610 0.24089 0.95 0.00 None None None None None None AMACR|0.038358163|66.34%
View grc14378022_exome 5 rs10941112
dbSNP Clinvar
34004707 16.432 C T . 0/1 13 NON_SYNONYMOUS_CODING MODERATE None 0.25260 0.25260 0.38421 0.02 0.62 1.52 0.02 0.4057 T None None None None AMACR|0.038358163|66.34%
View grc14378022_exome 5 rs2287939
dbSNP Clinvar
33998883 53.8047 A G . 0/1 22 NON_SYNONYMOUS_CODING MODERATE None 0.71486 0.71490 0.25135 0.33 0.01 None None None None None None AMACR|0.038358163|66.34%
View grc14378022_exome 5 rs3195676
dbSNP Clinvar
34008100 20.6589 C T . 0/1 10 NON_SYNONYMOUS_CODING MODERATE None 0.28694 0.28690 0.41759 0.01 0.13 None None None None None None AMACR|0.038358163|66.34%

ANKRD31

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 grc14378022_exome 5 rs1422699
dbSNP Clinvar
74442410 1484.13 G A . 0/1 63 SYNONYMOUS_CODING LOW None 0.58506 0.58510 None None None None None None ANKRD31|0.011398689|79.69%
View grc14378022_exome 5 rs10563854,rs796339850
dbSNP Clinvar
74491715 116.458 TTCA T . 0/1 25 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.58147 0.58150 0.49535 None None None None None None ANKRD31|0.011398689|79.69%
View grc14378022_exome 5 rs73114825
dbSNP Clinvar
74488590 123.849 G A . 0/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.05052 0.05052 0.05234 0.10 0.21 None None None None None None ANKRD31|0.011398689|79.69%
View grc14378022_exome 5 rs6888707
dbSNP Clinvar
74442920 1484.13 A G . 0/1 90 SYNONYMOUS_CODING LOW None 0.58526 0.58530 0.48774 None None None None None None ANKRD31|0.011398689|79.69%
View grc14378022_exome 5 rs1422698
dbSNP Clinvar
74443132 122.704 C T . 0/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.58506 0.58510 0.48795 1.00 0.00 None None None None None None ANKRD31|0.011398689|79.69%

ANKRD32

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 grc14378022_exome 5 rs6891545
dbSNP Clinvar
93987532 1484.13 C A . 0/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.23482 0.23480 0.22342 1.00 0.00 None None None None None None ANKRD32|0.713596269|8.17%

ANKRD34B

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 grc14378022_exome 5 rs32857
dbSNP Clinvar
79855372 24.0448 A G . 1/1 6 NON_SYNONYMOUS_CODING MODERATE None 0.94249 0.94250 0.11141 1.00 0.00 None None None None None None ANKRD34B|0.037975306|66.46%

ANXA6

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 grc14378022_exome 5 rs1133202
dbSNP Clinvar
150489390 1484.13 A G . 0/1 103 SYNONYMOUS_CODING LOW None 0.75819 0.75820 0.21680 None None None None None None ANXA6|0.284174792|28.78%

AP3B1

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 grc14378022_exome 5 rs6453373
dbSNP Clinvar
77425028 1484.13 A T . 1/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.06720 1.00 0.00 None None None None None None AP3B1|0.638758531|10.5%

AP3S1

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 grc14378022_exome 5 rs7733604
dbSNP Clinvar
115249078 116.185 C T . 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.14 0.06 None None None None None None AP3S1|0.603605843|11.68%

APBB3

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 grc14378022_exome 5 rs250431
dbSNP Clinvar
139940233 1484.13 G A . 0/1 131 SYNONYMOUS_CODING LOW None 0.63139 0.63140 0.41227 None None None None None None APBB3|0.268238369|30.01%
View grc14378022_exome 5 rs250430
dbSNP Clinvar
139941228 1484.13 A G . 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.90575 0.90580 0.11018 1.00 0.00 None None None None None None APBB3|0.268238369|30.01%

APC

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378022_exome 5 rs866006
dbSNP Clinvar
112176559 810.729 T G . 0/1 32 SYNONYMOUS_CODING LOW None 0.66693 0.66690 0.41201 None None None None None None APC|0.952088564|2.19%

AQPEP

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 grc14378022_exome 5 rs12520255
dbSNP Clinvar
115298475 1188.02 T C . 1/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.77396 0.77400 0.17663 0.86 0.00 None None None None None None None
View grc14378022_exome 5 rs10078759
dbSNP Clinvar
115341638 1484.13 G C . 0/1 75 NON_SYNONYMOUS_CODING MODERATE None 0.18292 0.02 0.59 None None None None None None None
View grc14378022_exome 5 rs10078748
dbSNP Clinvar
115341611 1484.13 G T . 0/1 75 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.77676 0.77680 0.18315 None None None None None None None
View grc14378022_exome 5 rs10062297
dbSNP Clinvar
115298378 462.207 C T . 1/1 22 SYNONYMOUS_CODING LOW None 0.77496 0.77500 0.16337 None None None None None None None
View grc14378022_exome 5 rs7712021
dbSNP Clinvar
115336862 1484.13 T C . 0/1 61 SYNONYMOUS_CODING LOW None 0.25479 0.25480 0.33690 None None None None None None None
View grc14378022_exome 5 rs12522632
dbSNP Clinvar
115298518 1484.13 A G . 1/1 29 SYNONYMOUS_CODING LOW None 0.17741 None None None None None None None

ARAP3

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 grc14378022_exome 5 rs12514851
dbSNP Clinvar
141051236 1484.13 C T . 0/1 144 SYNONYMOUS_CODING LOW None 0.18331 0.18330 0.14563 None None None None None None ARAP3|0.158448394|41.8%
View grc14378022_exome 5 rs11167756
dbSNP Clinvar
141059868 1484.13 T C . 0/1 162 SYNONYMOUS_CODING LOW None 0.46566 0.46570 0.42826 None None None None None None ARAP3|0.158448394|41.8%
View grc14378022_exome 5 rs7703648
dbSNP Clinvar
141036337 1484.13 A G,C . 0/1 132 SYNONYMOUS_CODING LOW None 0.48143 0.48140 0.48808 None None None None None None ARAP3|0.158448394|41.8%
View grc14378022_exome 5 rs417503
dbSNP Clinvar
141059649 1484.13 A G . 0/1 201 SYNONYMOUS_CODING LOW None 0.78335 0.78330 0.21659 None None None None None None ARAP3|0.158448394|41.8%

ARHGAP26

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 grc14378022_exome 5 rs185200
dbSNP Clinvar
142254679 1484.13 A G . 1/1 55 SYNONYMOUS_CODING LOW None 0.67372 0.67370 0.46202 None None None None None None ARHGAP26|0.689373516|8.81%
View grc14378022_exome 5 rs258819
dbSNP Clinvar
142593652 1484.13 C T . 1/1 58 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.99641 0.99640 0.00377 None None None None None None ARHGAP26|0.689373516|8.81%
View grc14378022_exome 5 rs2270068
dbSNP Clinvar
142421415 1484.13 T G . 1/1 50 SYNONYMOUS_CODING LOW None 0.88818 0.88820 0.00169 None None None None None None ARHGAP26|0.689373516|8.81%

ARHGEF28

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 grc14378022_exome 5 rs2973568
dbSNP Clinvar
73144845 1484.13 A G . 1/1 83 SYNONYMOUS_CODING LOW None 0.67632 0.67630 0.32967 None None None None None None ARHGEF28|0.15892968|41.74%
View grc14378022_exome 5 rs2973566
dbSNP Clinvar
73148481 1484.13 G A . 0/1 75 NON_SYNONYMOUS_CODING MODERATE None 0.16394 0.16390 0.23058 0.01 0.95 None None None None None None ARHGEF28|0.15892968|41.74%
View grc14378022_exome 5 rs7716253
dbSNP Clinvar
73090261 1484.13 T C . 1/1 39 SYNONYMOUS_CODING LOW None 0.61342 0.61340 0.39609 None None None None None None ARHGEF28|0.15892968|41.74%
View grc14378022_exome 5 rs7714670
dbSNP Clinvar
73072354 58.9309 T C . 1/1 11 NON_SYNONYMOUS_CODING MODERATE None 0.37041 0.37040 0.42150 0.37 0.00 None None None None None None ARHGEF28|0.15892968|41.74%
View grc14378022_exome 5 rs2973571
dbSNP Clinvar
73142296 66.3261 C T . 0/1 17 NON_SYNONYMOUS_CODING MODERATE None 0.17213 0.17210 0.23821 0.36 0.00 None None None None None None ARHGEF28|0.15892968|41.74%
View grc14378022_exome 5 rs6453022
dbSNP Clinvar
73076511 1484.13 C A . 1/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.57788 0.57790 0.43045 0.67 0.00 None None None None None None ARHGEF28|0.15892968|41.74%
View grc14378022_exome 5 rs3749645
dbSNP Clinvar
73179672 1484.13 C T . 0/1 41 SYNONYMOUS_CODING LOW None 0.17332 0.17330 0.13102 None None None None None None ARHGEF28|0.15892968|41.74%

ARHGEF37

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 grc14378022_exome 5 rs9324624
dbSNP Clinvar
149006640 18.3786 C T . 0/1 11 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.37560 0.37560 0.47589 0.00 0.99 None None None None None None ARHGEF37|0.046932636|63.62%
View grc14378022_exome 5 rs3733662
dbSNP Clinvar
149008467 1484.13 C A . 0/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.16034 0.16030 0.11649 0.58 0.00 None None None None None None ARHGEF37|0.046932636|63.62%
View grc14378022_exome 5 rs1135093
dbSNP Clinvar
149008521 1484.13 A G . 1/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.69369 0.69370 0.28951 0.64 0.00 None None None None None None ARHGEF37|0.046932636|63.62%
View grc14378022_exome 5 rs1056993
dbSNP Clinvar
149008403 1484.13 A G . 1/1 34 SYNONYMOUS_CODING LOW None 0.67213 0.67210 0.31076 None None None None None None ARHGEF37|0.046932636|63.62%

ARL10

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 grc14378022_exome 5 rs2303667
dbSNP Clinvar
175792605 103.244 G C . 1/1 14 SYNONYMOUS_CODING LOW None 0.55651 0.55650 0.41598 None None None None None None ARL10|0.060845523|59.64%

ARSB

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 grc14378022_exome 5 rs1071598
dbSNP Clinvar
78181423 1116.32 C T . 0/1 43 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.10863 0.10860 0.13701 0.19 0.28 None None None None None None ARSB|0.08485524|54.24%
View grc14378022_exome 5 rs25413
dbSNP Clinvar
78135201 1484.13 C T . 0/1 86 SYNONYMOUS_CODING LOW None 0.25919 0.25920 0.29179 None None None None None None ARSB|0.08485524|54.24%
View grc14378022_exome 5 rs25414
dbSNP Clinvar
78135241 1484.13 C T . 0/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.01957 0.01957 0.04567 0.50 0.01 None None None None None None ARSB|0.08485524|54.24%

ARSI

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 grc14378022_exome 5 rs6579784
dbSNP Clinvar
149677851 1484.13 A G . 1/1 36 SYNONYMOUS_CODING LOW None 0.99880 0.99880 0.00584 None None None None None None ARSI|0.132727876|45.51%
View grc14378022_exome 5 rs77943970
dbSNP Clinvar
149677818 1484.13 G A . 0/1 59 SYNONYMOUS_CODING LOW None 0.02436 0.02436 0.03683 None None None None None None ARSI|0.132727876|45.51%

ATG10

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 grc14378022_exome 5 rs1864183
dbSNP Clinvar
81549216 1136.76 C T . 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.52077 0.52080 0.37744 0.32 0.00 None None None None None None ATG10|0.133054505|45.45%
View grc14378022_exome 5 rs1864182
dbSNP Clinvar
81549240 364.201 C A . 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.56190 0.56190 0.44556 0.00 0.89 None None None None None None ATG10|0.133054505|45.45%

ATP10B

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 grc14378022_exome 5 rs958912
dbSNP Clinvar
160097496 1484.13 A G . 1/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.86162 0.86160 0.14734 0.39 0.00 None None None None None None ATP10B|0.07854889|55.53%
View grc14378022_exome 5 rs3812006
dbSNP Clinvar
159992754 1484.13 T G . 0/1 55 SYNONYMOUS_CODING LOW None 0.39477 0.39480 0.39612 None None None None None None ATP10B|0.07854889|55.53%
View grc14378022_exome 5 rs3812005
dbSNP Clinvar
159992655 23.2427 T C . 0/1 15 SYNONYMOUS_CODING LOW None 0.35683 0.35680 0.36195 None None None None None None ATP10B|0.07854889|55.53%
View grc14378022_exome 5 rs958911
dbSNP Clinvar
160097632 816.535 G A . 1/1 25 SYNONYMOUS_CODING LOW None 0.87760 0.87760 0.11247 None None None None None None ATP10B|0.07854889|55.53%

B4GALT7

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 grc14378022_exome 5 rs729459
dbSNP Clinvar
177035964 1484.13 T C . 0/1 175 SYNONYMOUS_CODING LOW None 0.60503 0.60500 0.42519 None None None None None None B4GALT7|0.160454345|41.46%
View grc14378022_exome 5 rs11537644
dbSNP Clinvar
177031348 34.2547 T C . 0/1 13 SYNONYMOUS_CODING LOW None 0.66134 0.66130 0.36735 None None None None None None B4GALT7|0.160454345|41.46%

BDP1

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 grc14378022_exome 5 rs6453014
dbSNP Clinvar
70837295 70.7642 A C . 1/1 12 NON_SYNONYMOUS_CODING MODERATE None 0.82268 0.82270 0.19623 1.00 0.00 None None None None None None BDP1|0.020559057|73.91%
View grc14378022_exome 5 rs715747
dbSNP Clinvar
70806711 1484.13 C G . 1/1 109 NON_SYNONYMOUS_CODING MODERATE None 0.79074 0.79070 0.22814 0.15 0.00 None None None None None None BDP1|0.020559057|73.91%
View grc14378022_exome 5 rs3761966
dbSNP Clinvar
70800475 1484.13 C T . 1/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.32368 0.32370 0.28322 0.32 0.00 None None None None None None BDP1|0.020559057|73.91%
View grc14378022_exome 5 rs760629100
dbSNP Clinvar
70813186 93.734 C T . 0/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.68 None None None None None None BDP1|0.020559057|73.91%
View grc14378022_exome 5 rs6886336
dbSNP Clinvar
70806958 1187.92 G A . 1/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.82109 0.82110 0.19709 0.46 0.00 None None None None None None BDP1|0.020559057|73.91%
View grc14378022_exome 5 rs277941
dbSNP Clinvar
70858194 1484.13 C T . 1/1 42 SYNONYMOUS_CODING LOW None 0.32368 0.32370 0.28482 None None None None None None BDP1|0.020559057|73.91%
View grc14378022_exome 5 rs3748043
dbSNP Clinvar
70751818 1484.13 T G . 1/1 135 NON_SYNONYMOUS_CODING MODERATE None 0.77816 0.77820 0.23286 1.00 0.00 None None None None None None BDP1|0.020559057|73.91%

BHMT

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 grc14378022_exome 5 rs3733890
dbSNP Clinvar
78421959 1385.29 G A . 0/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.29074 0.29070 0.27403 0.02 0.00 None None None None None None DMGDH|0.169846291|40.33%,BHMT|0.106798256|49.84%

BRD8

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 grc14378022_exome 5 rs412051
dbSNP Clinvar
137476416 984.817 T C . 1/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.97724 0.97720 0.01991 1.00 0.00 None None None None None None BRD8|0.564301197|13.19%
View grc14378022_exome 5 . 137504189 18.3839 C A . 0/1 11 None None None 0.00 1.00 None None None None None None BRD8|0.564301197|13.19%