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Genes:
ABLIM3, ACOT12, ADAMTS12, ADAMTS16, ADAMTS19, ADAMTS2, ADCY2, ADRB2, AGGF1, AGXT2, AHRR, AMACR, ANKH, ANKRD33B, ANKRD34B, ANXA2R, ANXA6, AP3B1, APBB3, APC, AQPEP, ARAP3, ARHGAP26, ARHGEF28, ARHGEF37, ARL14EPL, ARL15, ARSB, ARSI, ATG10, ATP10B, B4GALT7, BDP1, BHMT, BHMT2, BRD8, BTNL3, BTNL8, BTNL9, C1QTNF2, C5orf20, C5orf22, C5orf34, C5orf42, C5orf45, C5orf47, C5orf49, C5orf58, C5orf60, C5orf64, C6, C7, C9, CAMK2A, CAMK4, CAST, CATSPER3, CBY3, CCDC69, CCNH, CCT5, CD180, CDC20B, CDH12, CDH18, CDH6, CDH9, CDHR2, CDK7, CEP72, CETN3, CHSY3, CMBL, CNOT6, COL23A1, CREBRF, CSF1R, CTNNA1, CWC27, CXXC5, DBN1, DCP2, DDX4, DDX41, DMGDH, DMXL1, DNAH5, DNAJC18, DOCK2, DOK3, DRD1, DUSP1, EBF1, EFCAB9, EGFLAM, ENC1, EPB41L4A, ERAP1, ERAP2, ERBB2IP, EXOC3, F12, F2RL1, FABP6, FAM114A2, FAM134B, FAM13B, FAM151B, FAM170A, FAM173B, FAM193B, FAM81B, FASTKD3, FAT2, FAXDC2, FBN2, FBXL17, FBXL7, FBXO38, FCHO2, FCHSD1, FER, FGF1, FGFR4, FLT4, FNIP1, FOXI1, FYB, GABRA1, GABRA6, GABRB2, GABRG2, GCNT4, GDF9, GEMIN5, GFM2, GFPT2, GHR, GLRX, GM2A, GNPDA1, GPBP1, GPR98, GPX3, GPX8, GRAMD3, GRM6, GRXCR2, GZMA, HAPLN1, HAVCR1, HAVCR2, HDAC3, HEXB, HIGD2A, HMGXB3, HMMR, HSPA9, HSPB3, IL12B, IL13, IL31RA, IPO11, IQGAP2, IRGM, IRX1, IRX2, ITGA1, ITGA2, JAKMIP2, JMY, KCNMB1, KCNN2, KDM3B, KIAA0825, KLHL3, LARS, LCP2, LHFPL2, LIFR, LMAN2, LMBRD2, LPCAT1, LYSMD3, MAN2A1, MAP3K1, MARVELD2, MAT2B, MBLAC2, MCC, MCCC2, MCIDAS, MEGF10, MFAP3, MGAT1, MROH2B, MRPS30, MSH3, MSX2, MTRR, MYO10, MYOT, MYOZ3, N4BP3, NAIP, NDST1, NDUFAF2, NDUFS4, NIPAL4, NIPBL, NKD2, NKX2-5, NLN, NMUR2, NOP16, NRG2, NSA2, NSD1, NSG2, NSUN2, NUDT12, NUP155, OR2Y1, OSMR, OTP, PAPD7, PARP8, PCDH12, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHAC1, PCDHAC2, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB8, PCDHGA1, PCDHGA10, PCDHGA2, PCDHGA4, PCDHGA5, PCDHGA7, PCDHGB1, PCDHGB3, PCDHGB7, PCDHGC3, PCSK1, PCYOX1L, PDCD6, PDE6A, PDE8B, PDLIM4, PDLIM7, PDZD2, PELO, PIK3R1, PITX1, PJA2, PKD2L2, PLAC8L1, PLEKHG4B, POC5, PPWD1, PRDM9, PROP1, PRR16, RAD17, RAI14, RANBP17, RANBP3L, RAPGEF6, RARS, RASGEF1C, RASGRF2, REEP5, RELL2, RGS7BP, RHOBTB3, RICTOR, RIOK2, RPL26L1, RPS14, RPS23, RUFY1, S100Z, SCAMP1, SDHA, SEMA5A, SEMA6A, SEPP1, SEPT8, SETD9, SGCD, SH3PXD2B, SH3RF2, SH3TC2, SIL1, SLC12A2, SLC12A7, SLC22A4, SLC23A1, SLC25A2, SLC25A48, SLC26A2, SLC27A6, SLC30A5, SLC36A3, SLC38A9, SLC45A2, SLC4A9, SLC6A18, SLC6A19, SLC6A3, SLC6A7, SLC9A3, SLCO4C1, SLCO6A1, SLIT3, SLU7, SMAD5, SNX18, SOWAHA, SPATA24, SPDL1, SPEF2, SPINK5, SPINK6, SPZ1, SQSTM1, SRA1, SREK1, SREK1IP1, SSBP2, STK10, STK32A, SV2C, TBC1D9B, TCERG1, TCF7, TENM2, TERT, TGFBI, THG1L, TIGD6, TIMD4, TMCO6, TMED7, TMED7-TICAM2, TMEM161B, TMEM171, TMEM173, TMEM232, TNFAIP8, TNIP1, TNPO1, TPPP, TRIM23, TRIM36, TRIM41, TRIM52, TRIM7, TRIO, TSPAN17, TXNDC15, UIMC1, UTP15, VCAN, WDR36, WDR41, WDR55, WNT8A, WWC1, YTHDC2, ZCCHC9, ZDHHC11, ZFP2, ZFR, ZFYVE16, ZNF131, ZNF354A, ZNF354B, ZNF354C, ZNF366, ZNF454, ZNF474,

Genes at Omim

ADAMTS2, ADRB2, AGXT2, AMACR, ANKH, AP3B1, APC, ARHGAP26, ARSB, B4GALT7, BDP1, C6, C7, C9, CAMK2A, CAST, CCT5, CSF1R, CTNNA1, CWC27, DDX41, DMGDH, DNAH5, DOCK2, F12, FAM134B, FAT2, FBN2, FBXO38, FGFR4, FLT4, FOXI1, FYB, GABRA1, GABRB2, GABRG2, GDF9, GHR, GM2A, GRM6, GRXCR2, HEXB, HMMR, HSPA9, HSPB3, IL12B, IL13, IL31RA, IRGM, ITGA2, KCNMB1, KLHL3, LARS, LIFR, MAP3K1, MARVELD2, MCC, MCCC2, MEGF10, MSH3, MSX2, MTRR, MYOT, NDST1, NDUFAF2, NDUFS4, NIPAL4, NIPBL, NKX2-5, NSD1, NSUN2, NUP155, OSMR, PCDH12, PCSK1, PDE6A, PDE8B, PIK3R1, PITX1, PROP1, RARS, RPS14, RPS23, SDHA, SGCD, SH3PXD2B, SH3TC2, SIL1, SLC22A4, SLC26A2, SLC45A2, SLC6A19, SLC6A3, SLC9A3, SPINK5, SQSTM1, TERT, TGFBI, TMEM173, TRIM36, TRIO, 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)
AGXT2 [Beta-aminoisobutyric acid, urinary excretion of], 210100 (3)
AMACR Alpha-methylacyl-CoA racemase deficiency, 614307 (3)
Bile acid synthesis defect, congenital, 4, 214950 (3)
ANKH Chondrocalcinosis 2, 118600 (3)
Craniometaphyseal dysplasia, 123000 (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)
CTNNA1 Macular dystrophy, patterned, 2, 608970 (3)
CWC27 Retinitis pigmentosa with or without skeletal anomalies, 250410 (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)
HSPA9 Anemia, sideroblastic, 4, 182170 (3)
Even-plus syndrome, 616854 (3)
HSPB3 ?Neuronopathy, distal hereditary motor, type IIC, 613376 (3)
IL12B Immunodeficiency 29, mycobacteriosis, 614890 (3)
IL13 {Allergic rhinitis, susceptibility to}, 607154 (3)
{Asthma, susceptibility to}, 600807 (3)
IL31RA ?Amyloidosis, primary localized cutaneous, 2, 613955 (3)
IRGM {Inflammatory bowel disease (Crohn disease) 19}, 612278 (3)
{Mycobacterium tuberculosis, protection against}, 607948 (3)
ITGA2 ?Glycoprotein Ia deficiency, 614200 (1)
KCNMB1 {Hypertension, diastolic, resistance to}, 608622 (3)
KLHL3 Pseudohypoaldosteronism, type IID, 614495 (3)
LARS ?Infantile liver failure syndrome 1, 615438 (3)
LIFR Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (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)
MSH3 Familial adenomatous polyposis 4, 617100 (3)
Endometrial carcinoma, somatic, 608089 (3)
MSX2 Craniosynostosis 2, 604757 (3)
Parietal foramina 1, 168500 (3)
Parietal foramina with cleidocranial dysplasia, 168550 (3)
MTRR Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3)
{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
MYOT Myopathy, myofibrillar, 3, 609200 (3)
Myopathy, spheroid body, 182920 (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)
NIPBL Cornelia de Lange syndrome 1, 122470 (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)
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)
OSMR Amyloidosis, primary localized cutaneous, 1, 105250 (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)
PIK3R1 Immunodeficiency 36, 616005 (3)
?Agammaglobulinemia 7, autosomal recessive, 615214 (3)
SHORT syndrome, 269880 (3)
PITX1 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800 (3)
Liebenberg syndrome, 186550 (4)
PROP1 Pituitary hormone deficiency, combined, 2, 262600 (3)
RARS Leukodystrophy, hypomyelinating, 9, 616140 (3)
RPS14 Macrocytic anemia, refractory, due to 5q deletion, somatic, 153550 (3)
RPS23 Brachycephaly, trichomegaly, and developmental delay, 617412 (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)
SIL1 Marinesco-Sjogren syndrome, 248800 (3)
SLC22A4 {Rheumatoid arthritis, susceptibility to}, 180300 (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)
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)
SPINK5 Netherton syndrome, 256500 (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)
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)
TGFBI Corneal dystrophy, Avellino type, 607541 (3)
Corneal dystrophy, Groenouw type I, 121900 (3)
Corneal dystrophy, Reis-Bucklers type, 608470 (3)
Corneal dystrophy, Thiel-Behnke type, 602082 (3)
Corneal dystrophy, epithelial basement membrane, 121820 (3)
Corneal dystrophy, lattice type I, 122200 (3)
Corneal dystrophy, lattice type IIIA, 608471 (3)
TMEM173 STING-associated vasculopathy, infantile-onset, 615934 (3)
TRIM36 ?Anencephaly, 206500 (3)
TRIO Mental retardation, autosomal dominant 44, 617061 (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, AMACR, ANKH, AP3B1, APC, ARSB, B4GALT7, C6, C7, C9, CAST, CCT5, CSF1R, CTNNA1, DDX41, DMGDH, DNAH5, DOCK2, F12, FAM134B, FBN2, FBXO38, FLT4, FOXI1, GABRA1, GABRG2, GHR, GM2A, GRM6, GRXCR2, HEXB, HSPA9, HSPB3, IL12B, IL31RA, KLHL3, LARS, LIFR, MAP3K1, MARVELD2, MCCC2, MEGF10, MSH3, MSX2, MTRR, MYOT, NDST1, NDUFAF2, NDUFS4, NIPAL4, NIPBL, NKX2-5, NSD1, NUP155, OSMR, PCSK1, PDE6A, PDE8B, PIK3R1, PITX1, PROP1, RARS, SDHA, SGCD, SH3PXD2B, SH3TC2, SIL1, SLC26A2, SLC45A2, SLC6A19, SLC6A3, SPINK5, SQSTM1, TERT, TGFBI, TMEM173, VCAN,
ADAMTS2 Ehlers-Danlos syndrome, type VII
ADRB2 Beta-2-adrenoreceptor agonist, reduced response to
AMACR Bile acid synthesis defect, congenital, 4
Alpha-methylacyl-CoA racemase deficiency
ANKH Craniometaphyseal dysplasia
Chondrocalcinosis 2
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
CTNNA1 Hereditary diffuse gastric cancer, familial
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
HSPA9 Anemia, sideroblastic 4
HSPB3 Neuronopathy, distal hereditary motor, type IIC
IL12B Immunodeficiency 28
Immunodeficiency 29
IL31RA Amyloidois, primary localized cutaneous, 2
KLHL3 Pseudohypoaldosteronism, type IID
LARS Infantile liver failure syndrome 1
LIFR Stuve-Wiedemann syndrome
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
MSH3 Endometrial carcinoma
MSX2 Craniosynostosis, type 2
Parietal foramina with cleidocranial dysplasia
Parietal foramina 1
MTRR Homocystinuria-megaloblastic anemia, cobalamin E type
MYOT Myopathy, myofibrillar, 3
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
NIPBL Cornelia de Lange syndrome 1
NKX2-5 Atrial septal defect 7, with or without AV conduction defects
Conotruncal heart malformations
Hypothyroidism, congenital nongoitrous, 5
NSD1 Sotos syndrome
Weaver syndrome
Beckwith-Wiedemann syndrome
NUP155 Atrial fibrillation 15
OSMR Amyloidosis, primary localized cutaneous, 1
PCSK1 Proprotein convertase 1/3 deficiency
PDE6A Retinitis pigmentosa 43
PDE8B Pigmented nodular adrenocortical disease, primary, 3
PIK3R1 Agammaglobulinemia 7, autosomal recessive
PITX1 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly
Liebenberg syndrome
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
SIL1 Marinesco-Sjogren syndrome
SLC26A2 Achondrogenesis, type IB
Atelosteogenesis II
De la Chapelle dysplasia
Diastrophic dysplasia
Epiphyseal dysplasia, multiple, 4
SLC45A2 Oculocutaneous albinism, type IV
Skin/hair/eye pigmentation 5
SLC6A19 Hartnup disease
SLC6A3 Parkinsonism-dystonia, infantile
SPINK5 Netherton syndrome
SQSTM1 Paget disease of bone 3
TERT Aplastic anemia
Dyskeratosis congenita, autosomal dominant
Dyskeratosis congenita, autosomal recessive
Pulmonary fibrosis and/or bone marrow failure, telomere-related 1
TGFBI Corneal dystrophy, lattice type I
Corneal dystrophy, lattice type IIIA
Corneal dystrophy of Bowman layer, type I
Corneal dystrophy, Avellino type
Corneal dystrophy, Reis-Bucklers type
Corneal dystrophy, Thiel-Behnke type
Corneal dystrophy, Groenouw type I
Corneal dystrophy, epithelial basement membrane
TMEM173 STING-associated vasculopathy, infantile-onsent (SAVI)
VCAN Wagner syndrome 1

Genes at HGMD

Summary

Number of Variants: 1705
Number of Genes: 401

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ABLIM3

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWM 5 rs114548064
dbSNP Clinvar
148618835 297.66 T A PASS 0/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.00359 0.00359 0.01023 0.16 0.02 None None None None None None ABLIM3|0.394992795|21.09%

ACOT12

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 allfamilies AWM 5 rs10371
dbSNP Clinvar
80631642 681.629 C T PASS 0/1 229 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%

ADAMTS12

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 allfamilies AWM 5 rs25754
dbSNP Clinvar
33535060 1361.99 G A PASS 0/1 150 NON_SYNONYMOUS_CODING MODERATE None 0.59964 0.59960 0.46125 0.19 0.63 None None None None None None ADAMTS12|0.089192289|53.4%

ADAMTS16

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 allfamilies AWM 5 rs2086310
dbSNP Clinvar
5146335 1916.66 C G PASS 1/1 163 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 allfamilies AWM 5 rs6555335
dbSNP Clinvar
5200281 977.05 C A,T PASS 2/2 110 STOP_GAINED HIGH None 0.72524 0.72520 0.29491 None None None None None None ADAMTS16|0.017832591|75.4%
View allfamilies AWM 5 rs1019747
dbSNP Clinvar
5146377 2020.89 T C PASS 1/1 162 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 allfamilies AWM 5 rs11749126
dbSNP Clinvar
129040056 358.07 A T PASS 0/1 137 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%
View allfamilies AWM 5 rs28630040
dbSNP Clinvar
128844838 43.05 A G PASS 0/1 7 SYNONYMOUS_CODING LOW None 0.12740 0.12740 0.10549 None None None None None None ADAMTS19|0.08763198|53.7%
View allfamilies AWM 5 rs6595908
dbSNP Clinvar
128863471 412.473 A G PASS 1/1 38 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%

ADAMTS2

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 allfamilies AWM 5 rs2271212
dbSNP Clinvar
178770981 2596.91 A G PASS 0/1 291 SYNONYMOUS_CODING LOW None 0.30895 None None None None None None ADAMTS2|0.325728261|25.76%
View allfamilies AWM 5 rs1972715
dbSNP Clinvar
178562967 149.17 G A PASS 0/1 61 SYNONYMOUS_CODING LOW None 0.19649 0.19650 0.23997 None None None None None None ADAMTS2|0.325728261|25.76%
View allfamilies AWM 5 rs2303644
dbSNP Clinvar
178555045 291.81 G A PASS 0/1 157 SYNONYMOUS_CODING LOW None 0.12999 0.13000 0.17246 None None None None None None ADAMTS2|0.325728261|25.76%
View allfamilies AWM 5 rs2278221
dbSNP Clinvar
178581859 316.55 G A PASS 0/1 67 SYNONYMOUS_CODING LOW None 0.22844 0.22840 0.18691 None None None None None None ADAMTS2|0.325728261|25.76%
View allfamilies AWM 5 rs423552
dbSNP Clinvar
178634619 1550.91 C T PASS 1/1 128 SYNONYMOUS_CODING LOW None 0.92452 0.92450 0.08473 None None None None None None ADAMTS2|0.325728261|25.76%
View allfamilies AWM 5 rs1054480
dbSNP Clinvar
178540975 627.7 G A PASS 0/1 108 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%

ADCY2

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 allfamilies AWM 5 rs62342477
dbSNP Clinvar
7743787 497.81 C T PASS 1/1 53 SYNONYMOUS_CODING LOW None 0.32368 0.32370 0.49854 None None None None None None ADCY2|0.904669113|3.35%
View allfamilies AWM 5 rs2290910
dbSNP Clinvar
7802363 115.451 C T PASS 0/1 9 SYNONYMOUS_CODING LOW None 0.23343 0.23340 0.22828 None None None None None None ADCY2|0.904669113|3.35%

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 allfamilies AWM 5 rs1042714
dbSNP Clinvar
148206473 1485.52 G C PASS 1/1 133 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 allfamilies AWM 5 rs1042713
dbSNP Clinvar
148206440 1395.36 G A PASS 1/1 148 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%

AGGF1

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 allfamilies AWM 5 rs13155212
dbSNP Clinvar
76343999 737.682 T C PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.22205 0.22200 0.24708 None None None None None None AGGF1|0.089872136|53.25%
View allfamilies AWM 5 rs34400049
dbSNP Clinvar
76359024 2059.4 C A PASS 0/1 265 NON_SYNONYMOUS_CODING MODERATE None 0.20507 0.20510 0.22597 0.91 0.00 None None None None None None AGGF1|0.089872136|53.25%

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 allfamilies AWM 5 rs16899974
dbSNP Clinvar
34998877 143.491 C A PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.23562 0.23560 0.17723 0.29 0.01 None None None None None None AGXT2|0.105323014|50.19%
View allfamilies AWM 5 rs37370
dbSNP Clinvar
35039486 1478.73 C T PASS 1/1 126 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 allfamilies AWM 5 rs2279651
dbSNP Clinvar
35039437 1516.71 A G PASS 0/1 168 SYNONYMOUS_CODING LOW None 0.39916 0.39920 0.46063 None None None None None None AGXT2|0.105323014|50.19%
View allfamilies AWM 5 rs180749
dbSNP Clinvar
35033605 808.333 G A PASS 1/1 42 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 allfamilies AWM 5 rs466067
dbSNP Clinvar
35010138 1324.44 A G PASS 1/1 128 SYNONYMOUS_CODING LOW None 0.89457 0.89460 0.04198 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 allfamilies AWM 5 rs2292596
dbSNP Clinvar
422955 1002.59 C G PASS 0/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.30247 0.19 0.08 None None None None None None AHRR|0.004021791|87%
View allfamilies AWM 5 rs34453673
dbSNP Clinvar
434722 497.56 G C PASS 0/1 209 NON_SYNONYMOUS_CODING MODERATE None 0.15495 0.15500 0.26895 0.82 0.00 None None None None None None AHRR|0.004021791|87%

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 allfamilies AWM 5 rs2278008
dbSNP Clinvar
33989518 1147.7 C T PASS 0/1 119 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 allfamilies AWM 5 rs34677
dbSNP Clinvar
33998768 226.928 C A PASS 0/1 106 NON_SYNONYMOUS_CODING MODERATE None 0.11442 0.11440 0.11995 0.03 0.14 6.41 None None None None None None AMACR|0.038358163|66.34%
View allfamilies AWM 5 rs2287939
dbSNP Clinvar
33998883 437.08 A G PASS 0/1 19 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%

ANKH

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 allfamilies AWM 5 rs17251667
dbSNP Clinvar
14769103 615.955 G A PASS 0/1 51 SYNONYMOUS_CODING LOW None 0.12061 0.12060 0.14885 None None None None None None ANKH|0.170147079|40.3%

ANKRD33B

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 allfamilies AWM 5 rs814576
dbSNP Clinvar
10564846 1902.88 C T PASS 1/1 173 SYNONYMOUS_CODING LOW None 0.96426 0.96430 None None None None None None ANKRD33B|0.01613202|76.38%

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 allfamilies AWM 5 rs32857
dbSNP Clinvar
79855372 865.196 A G PASS 0/1 57 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%

ANXA2R

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 allfamilies AWM 5 rs1054428
dbSNP Clinvar
43039793 1463.0 T C PASS 1/1 95 NON_SYNONYMOUS_CODING MODERATE None 0.18351 0.18350 0.26695 0.48 0.37 None None None None None None ANXA2R|0.000047349|100%

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 allfamilies AWM 5 rs1133202
dbSNP Clinvar
150489390 1255.94 A G PASS 0/1 122 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 allfamilies AWM 5 rs17192146
dbSNP Clinvar
77425099 314.6 G A PASS 0/1 149 SYNONYMOUS_CODING LOW None 0.03415 0.03415 0.04959 None None None None None None AP3B1|0.638758531|10.5%
View allfamilies AWM 5 rs6453373
dbSNP Clinvar
77425028 866.986 A T PASS 1/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.06720 1.00 0.00 None None None None None None AP3B1|0.638758531|10.5%

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 allfamilies AWM 5 rs250431
dbSNP Clinvar
139940233 2311.58 G A PASS 1/1 241 SYNONYMOUS_CODING LOW None 0.63139 0.63140 0.41227 None None None None None None APBB3|0.268238369|30.01%
View allfamilies AWM 5 rs250430
dbSNP Clinvar
139941228 912.74 A G PASS 1/1 80 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 allfamilies AWM 5 rs42427
dbSNP Clinvar
112176325 2116.46 G A PASS 0/1 159 SYNONYMOUS_CODING LOW None 0.66673 0.66670 0.40987 None None None None None None APC|0.952088564|2.19%
View allfamilies AWM 5 rs2229992
dbSNP Clinvar
112162854 659.479 T C PASS 0/1 32 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.50998 0.51000 0.46217 None None None None None None APC|0.952088564|2.19%
View allfamilies AWM 5 rs866006
dbSNP Clinvar
112176559 1222.97 T G PASS 0/1 88 SYNONYMOUS_CODING LOW None 0.66693 0.66690 0.41201 None None None None None None APC|0.952088564|2.19%
View allfamilies AWM 5 rs459552
dbSNP Clinvar
112176756 585.84 T A PASS 1/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.86542 0.86540 0.17374 0.00 None None None None None None APC|0.952088564|2.19%
View allfamilies AWM 5 rs465899
dbSNP Clinvar
112177171 710.515 G A PASS 0/1 74 SYNONYMOUS_CODING LOW None 0.66653 0.66650 0.41309 None None None None None None APC|0.952088564|2.19%
View allfamilies AWM 5 rs41115
dbSNP Clinvar
112175770 1195.0 G A PASS 0/1 75 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH None 0.66554 0.66550 0.41378 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 allfamilies AWM 5 rs12520255
dbSNP Clinvar
115298475 1431.13 T C PASS 0/1 158 NON_SYNONYMOUS_CODING MODERATE None 0.77396 0.77400 0.17663 0.86 0.00 None None None None None None None
View allfamilies AWM 5 rs10078748
dbSNP Clinvar
115341611 599.69 G T PASS 0/1 52 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.77676 0.77680 0.18315 None None None None None None None
View allfamilies AWM 5 rs10062297
dbSNP Clinvar
115298378 2070.21 C T PASS 0/1 218 SYNONYMOUS_CODING LOW None 0.77496 0.77500 0.16337 None None None None None None None
View allfamilies AWM 5 rs12522632
dbSNP Clinvar
115298518 2106.54 A G PASS 0/1 410 SYNONYMOUS_CODING LOW None 0.17741 None None None None None None None
View allfamilies AWM 5 rs1445708
dbSNP Clinvar
115298977 629.39 C T PASS 0/1 268 SYNONYMOUS_CODING LOW None 0.38918 0.38920 0.34532 None None None None None None None
View allfamilies AWM 5 rs10078759
dbSNP Clinvar
115341638 616.94 G C PASS 0/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.18292 0.02 0.59 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 allfamilies AWM 5 rs7703648
dbSNP Clinvar
141036337 1571.19 A G PASS 1/1 115 SYNONYMOUS_CODING LOW None 0.48143 0.48140 0.48808 None None None None None None ARAP3|0.158448394|41.8%
View allfamilies AWM 5 rs11167756
dbSNP Clinvar
141059868 2444.35 T C PASS 0/1 193 SYNONYMOUS_CODING LOW None 0.46566 0.46570 0.42826 None None None None None None ARAP3|0.158448394|41.8%
View allfamilies AWM 5 rs1031904
dbSNP Clinvar
141059158 462.65 C G PASS 0/1 164 NON_SYNONYMOUS_CODING MODERATE None 0.08826 0.08826 0.09196 0.06 0.47 None None None None None None ARAP3|0.158448394|41.8%
View allfamilies AWM 5 rs12514851
dbSNP Clinvar
141051236 317.45 C T PASS 0/1 84 SYNONYMOUS_CODING LOW None 0.18331 0.18330 0.14563 None None None None None None ARAP3|0.158448394|41.8%
View allfamilies AWM 5 rs417503
dbSNP Clinvar
141059649 429.239 A G PASS 1/1 41 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 allfamilies AWM 5 rs258819
dbSNP Clinvar
142593652 1991.0 C T PASS 1/1 167 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 allfamilies AWM 5 rs2270068
dbSNP Clinvar
142421415 2458.71 T G PASS 1/1 249 SYNONYMOUS_CODING LOW None 0.88818 0.88820 0.00169 None None None None None None ARHGAP26|0.689373516|8.81%
View allfamilies AWM 5 rs185200
dbSNP Clinvar
142254679 331.83 A G PASS 0/1 112 SYNONYMOUS_CODING LOW None 0.67372 0.67370 0.46202 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 allfamilies AWM 5 rs6453022
dbSNP Clinvar
73076511 193.15 C A PASS 0/1 71 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 allfamilies AWM 5 rs7714670
dbSNP Clinvar
73072354 100.21 T C PASS 0/1 14 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 allfamilies AWM 5 rs7716253
dbSNP Clinvar
73090261 157.892 T C PASS 0/1 26 SYNONYMOUS_CODING LOW None 0.61342 0.61340 0.39609 None None None None None None ARHGEF28|0.15892968|41.74%
View allfamilies AWM 5 rs2931423
dbSNP Clinvar
73163831 481.318 C T PASS 0/1 146 SYNONYMOUS_CODING LOW None 0.22264 0.22260 0.27751 None None None None None None ARHGEF28|0.15892968|41.74%
View allfamilies AWM 5 rs17634853
dbSNP Clinvar
73205463 101.35 G A PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.03514 0.03514 0.02560 0.16 0.06 None None None None None None ARHGEF28|0.15892968|41.74%
View allfamilies AWM 5 rs1478453
dbSNP Clinvar
73207372 1024.62 T A PASS 0/1 95 NON_SYNONYMOUS_CODING MODERATE None 0.30232 0.30230 0.38488 0.30 0.00 None None None None None None ARHGEF28|0.15892968|41.74%
View allfamilies AWM 5 rs78992879
dbSNP Clinvar
73205697 544.35 C G PASS 0/1 192 NON_SYNONYMOUS_CODING MODERATE None 0.03654 0.03654 0.02543 0.01 0.63 None None None None None None ARHGEF28|0.15892968|41.74%
View allfamilies AWM 5 rs2973568
dbSNP Clinvar
73144845 734.846 A G PASS 0/1 67 SYNONYMOUS_CODING LOW None 0.67632 0.67630 0.32967 None None None None None None ARHGEF28|0.15892968|41.74%
View allfamilies AWM 5 rs2973558
dbSNP Clinvar
73163965 263.86 C A PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.22264 0.22260 0.27568 0.40 0.00 None None None None None None ARHGEF28|0.15892968|41.74%
View allfamilies AWM 5 rs17634865
dbSNP Clinvar
73205717 422.54 C T PASS 0/1 189 NON_SYNONYMOUS_CODING MODERATE None 0.03474 0.03474 0.02682 0.81 0.00 None None None None None None ARHGEF28|0.15892968|41.74%

ARHGEF37

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 allfamilies AWM 5 rs4629585
dbSNP Clinvar
149001551 2465.76 A C PASS 1/1 259 NON_SYNONYMOUS_CODING MODERATE None 0.43690 0.43690 0.36393 1.00 0.00 None None None None None None ARHGEF37|0.046932636|63.62%

ARL14EPL

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 allfamilies AWM 5 rs6880759
dbSNP Clinvar
115394626 1271.0 G A,T PASS 1/1 122 SYNONYMOUS_CODING LOW None 0.07208 0.67630 None None None None None None ARL14EPL|0.056195492|60.86%

ARL15

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 allfamilies AWM 5 rs35941
dbSNP Clinvar
53606295 1592.65 T C PASS 1/1 148 SYNONYMOUS_CODING LOW None 0.82648 0.82650 0.12791 None None None None None None ARL15|0.803940544|5.72%

ARSB

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 allfamilies AWM 5 rs72762973
dbSNP Clinvar
78181577 401.14 T C PASS 0/1 64 SYNONYMOUS_CODING LOW None 0.02656 0.02656 0.05236 5.72 0.16 0.83848 D None None None None ARSB|0.08485524|54.24%
View allfamilies AWM 5 rs1065757
dbSNP Clinvar
78181477 675.28 C T PASS 1/1 74 NON_SYNONYMOUS_CODING MODERATE None 0.28554 0.28550 0.32470 0.06 0.93 None None None None None None ARSB|0.08485524|54.24%

ARSI

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 allfamilies AWM 5 rs6579784
dbSNP Clinvar
149677851 1226.41 A G PASS 1/1 127 SYNONYMOUS_CODING LOW None 0.99880 0.99880 0.00584 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 allfamilies AWM 5 rs1864183
dbSNP Clinvar
81549216 776.37 C T PASS 0/1 74 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 allfamilies AWM 5 rs1864182
dbSNP Clinvar
81549240 742.73 C A PASS 0/1 73 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%
View allfamilies AWM 5 rs3734114
dbSNP Clinvar
81354389 61.31 T C PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.19010 0.19010 0.16116 0.29 0.00 None None None None None None ATG10|0.133054505|45.45%

ATP10B

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 allfamilies AWM 5 rs3812005
dbSNP Clinvar
159992655 2276.47 T C PASS 0/1 167 SYNONYMOUS_CODING LOW None 0.35683 0.35680 0.36195 None None None None None None ATP10B|0.07854889|55.53%
View allfamilies AWM 5 rs4921302
dbSNP Clinvar
159992697 351.61 C T PASS 0/1 115 SYNONYMOUS_CODING LOW None 0.08107 0.08107 0.09355 None None None None None None ATP10B|0.07854889|55.53%
View allfamilies AWM 5 rs4921150
dbSNP Clinvar
159992751 363.634 A G PASS 0/1 121 SYNONYMOUS_CODING LOW None 0.14357 0.14360 0.15773 None None None None None None ATP10B|0.07854889|55.53%
View allfamilies AWM 5 rs3812006
dbSNP Clinvar
159992754 1516.04 T G PASS 0/1 121 SYNONYMOUS_CODING LOW None 0.39477 0.39480 0.39612 None None None None None None ATP10B|0.07854889|55.53%
View allfamilies AWM 5 rs958911
dbSNP Clinvar
160097632 2456.03 G A PASS 1/1 212 SYNONYMOUS_CODING LOW None 0.87760 0.87760 0.11247 None None None None None None ATP10B|0.07854889|55.53%
View allfamilies AWM 5 rs958912
dbSNP Clinvar
160097496 776.366 A G PASS 1/1 64 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%

B4GALT7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWM 5 rs11537644
dbSNP Clinvar
177031348 2540.61 T C PASS 0/1 410 SYNONYMOUS_CODING LOW None 0.66134 0.66130 0.36735 None None None None None None B4GALT7|0.160454345|41.46%
View allfamilies AWM 5 rs729459
dbSNP Clinvar
177035964 1749.81 T C PASS 0/1 175 SYNONYMOUS_CODING LOW None 0.60503 0.60500 0.42519 None None None None None None B4GALT7|0.160454345|41.46%

BDP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWM 5 rs715748
dbSNP Clinvar
70806457 1795.71 G A PASS 1/1 158 NON_SYNONYMOUS_CODING MODERATE None 0.43970 0.43970 0.45004 0.25 0.00 None None None None None None BDP1|0.020559057|73.91%
View allfamilies AWM 5 rs182190
dbSNP Clinvar
70840233 1555.72 C T PASS 1/1 129 SYNONYMOUS_CODING LOW None 0.39896 0.39900 0.42819 None None None None None None BDP1|0.020559057|73.91%
View allfamilies AWM 5 rs469039
dbSNP Clinvar
70849021 655.07 G T PASS 1/1 54 SYNONYMOUS_CODING LOW None 0.43271 0.43270 0.44997 None None None None None None BDP1|0.020559057|73.91%
View allfamilies AWM 5 rs1961760
dbSNP Clinvar
70806649 1522.66 T A PASS 1/1 130 NON_SYNONYMOUS_CODING MODERATE None 0.43990 0.43990 0.45353 1.00 0.00 None None None None None None BDP1|0.020559057|73.91%
View allfamilies AWM 5 rs715747
dbSNP Clinvar
70806711 793.364 C G PASS 1/1 52 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 allfamilies AWM 5 rs3761967
dbSNP Clinvar
70800538 735.98 G A PASS 1/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.43271 0.43270 0.44776 0.13 0.15 None None None None None None BDP1|0.020559057|73.91%
View allfamilies AWM 5 rs3748043
dbSNP Clinvar
70751818 3171.01 T G PASS 1/1 336 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%
View allfamilies AWM 5 rs6886336
dbSNP Clinvar
70806958 1084.88 G A PASS 1/1 71 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 allfamilies AWM 5 rs6453014
dbSNP Clinvar
70837295 860.64 A C PASS 1/1 75 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 allfamilies AWM 5 rs1698063
dbSNP Clinvar
70809169 1505.97 A G PASS 1/1 153 NON_SYNONYMOUS_CODING MODERATE None 0.39956 0.39960 0.42969 0.15 0.02 None None None None None None BDP1|0.020559057|73.91%

BHMT

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWM 5 rs3733890
dbSNP Clinvar
78421959 401.89 G A PASS 0/1 108 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%

BHMT2

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 allfamilies AWM 5 rs682985
dbSNP Clinvar
78373431 379.596 C T PASS 1/1 23 SYNONYMOUS_CODING LOW None 0.48822 0.48820 0.49939 None None None None None None DMGDH|0.169846291|40.33%,BHMT2|0.048729707|63.04%

BRD8

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 allfamilies AWM 5 rs412051
dbSNP Clinvar
137476416 872.352 T C PASS 1/1 37 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%