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Genes:
ABLIM3, AC005609.1, AC026703.1, AC136604.1, AC138517.1, ACSL6, ADAM19, ADAMTS12, ADAMTS16, ADAMTS19, ADAMTS2, ADCY2, ADRB2, AGXT2, AHRR, AMACR, ANKDD1B, ANKH, ANKRD31, ANKRD33B, ANKRD34B, ANXA6, AP3B1, APBB3, APC, AQPEP, ARAP3, ARHGAP26, ARHGEF28, ARHGEF37, ARL10, ARL14EPL, ARL15, ARSB, ARSI, ATG10, ATP10B, BDP1, BHMT, BHMT2, BOD1, BRD8, BRD9, BTNL3, BTNL8, BTNL9, C1QTNF2, C5orf17, C5orf20, C5orf22, C5orf34, C5orf38, C5orf45, C5orf46, C5orf52, C5orf55, C5orf56, C5orf58, C5orf60, C5orf64, C5orf66, C6, C7, CAMK2A, CAMK4, CAPSL, CARD6, CAST, CATSPER3, CCDC125, CCDC127, CCDC69, CCNI2, CCT5, CD180, CDC20B, CDC25C, CDH12, CDH18, CDH9, CDHR2, CDX1, CEP120, CEP72, CETN3, CHD1, CHSY3, CMBL, CMYA5, CNOT6, COL23A1, COMMD10, CSF1R, CSF2, CTD-2215E18.1, CTD-2228K2.5, CTXN3, CXCL14, CYFIP2, DAP, DBN1, DCP2, DDX4, DDX41, DIMT1, DMGDH, DMXL1, DNAH5, DNAJC18, DND1, DOCK2, DOK3, DRD1, DROSHA, DUSP1, EBF1, EGFLAM, ELL2, ENC1, EPB41L4A, EPB41L4A-AS2, ERAP1, ERAP2, ERBB2IP, EXOC3, F12, F2RL1, FAM114A2, FAM134B, FAM13B, FAM151B, FAM153A, FAM153B, FAM170A, FAM173B, FAM174A, FAM193B, FAM196B, FAM81B, FASTKD3, FAT2, FBN2, FBXL17, FBXL21, FBXO38, FBXO4, FER, FGFR4, FLT4, FNDC9, FNIP1, FOXD1, FOXI1, FSTL4, FYB, GABRA6, GABRB2, GABRG2, GALNT10, GCNT4, GDF9, GEMIN5, GFM2, GFPT2, GHR, GIN1, GLRX, GM2A, GNB2L1, GNPDA1, GPBP1, GPR151, GPR98, GPRIN1, GPX3, GPX8, GRAMD3, GRM6, GRXCR2, GZMA, GZMK, HAPLN1, HARS, HAVCR1, HAVCR2, HDAC3, HEXB, HIGD2A, HK3, HMGCS1, HMGXB3, HMMR, HSD17B4, HSPA9, HSPB3, IL3, IL31RA, IPO11, IQGAP2, IRF1, IRX1, IRX4, ISL1, ISOC1, ITGA1, ITGA2, JMY, KCNIP1, KCNMB1, KCNN2, KDM3B, KIAA0141, KIAA0825, KIAA0947, KIF3A, KIF4B, KLHL3, LARS, LCP2, LECT2, LHFPL2, LIFR, LMBRD2, LPCAT1, LRRC14B, LRRC70, LYSMD3, MAML1, MAN2A1, MAP1B, MAP3K1, MAST4, MBLAC2, MCC, MCCC2, MCTP1, MEGF10, MFAP3, MROH2B, MRPS30, MSH3, MSX2, MTRR, MYO10, MYOT, MYOZ3, N4BP3, NAIP, NDST1, NDUFAF2, NDUFS4, NDUFS6, NIPAL4, NKD2, NLN, NMUR2, NOP16, NPR3, NREP, NSA2, NSD1, NSUN2, NUDT12, NUP155, OR2V2, OR2Y1, OTP, OXCT1, PAM, PAPD7, PARP8, PCDH12, PCDHA1, PCDHA10, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHAC1, PCDHAC2, PCDHB10, PCDHB11, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA2, PCDHGA3, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB2, PCDHGB3, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC5, PCSK1, PDCD6, PDE8B, PDLIM4, PDLIM7, PDZD2, PELO, PIK3R1, PITX1, PJA2, PKD2L2, PLEKHG4B, PLK2, POC5, PPIP5K2, PPP2R2B, PPWD1, PRDM6, PRELID1, PROB1, PROP1, PRR16, PRRC1, PTTG1, PWWP2A, RAI14, RANBP3L, RAPGEF6, RARS, RASGEF1C, RASGRF2, REEP5, RGMB, RGS7BP, RHOBTB3, RICTOR, RIOK2, RMND5B, RNF180, RNF44, RP11-404L6.2, RP11-45H22.3, RPS23, RUFY1, S100Z, SCAMP1, SDHA, SEMA5A, SEMA6A, SEPT8, SETD9, SFXN1, SH3PXD2B, SH3RF2, SH3TC2, SHROOM1, SIL1, SLC12A2, SLC12A7, SLC22A4, SLC22A5, SLC23A1, SLC25A2, SLC25A48, SLC26A2, SLC30A5, SLC36A2, SLC36A3, SLC38A9, SLC45A2, SLC4A9, SLC6A18, SLC6A19, SLC6A3, SLC6A7, SLC9A3, SLCO4C1, SLCO6A1, SLIT3, SLU7, SMAD5, SNX18, SNX2, SOWAHA, SOX30, SPATA24, SPEF2, SPINK5, SPINK6, SPINK9, SPZ1, SQSTM1, SRA1, SRD5A1, SREK1IP1, SSBP2, STC2, STK10, STK32A, SV2C, TCERG1, TCF7, TENM2, TERT, TGFBI, THBS4, THG1L, TIGD6, TIMD4, TMCO6, TMEM161B, TMEM171, TMEM173, TNFAIP8, TNIP1, TNPO1, TPPP, TRIM23, TRIM36, TRIM41, TRIM52, TRIM7, TRIO, TRPC7, TSPAN17, TSSK1B, UGT3A1, UIMC1, UTP15, VCAN, WDR36, WDR41, WDR55, WNT8A, WWC1, YTHDC2, ZCCHC9, ZDHHC11, ZDHHC11B, ZFP2, ZFP62, ZFR, ZFYVE16, ZNF131, ZNF354C, ZNF366, ZNF454, ZNF474, ZNF608, ZRSR1, ZSWIM6,

Genes at Omim

ACSL6, ADAMTS2, ADRB2, AGXT2, AMACR, ANKH, AP3B1, APC, ARHGAP26, ARSB, BDP1, C6, C7, CAMK2A, CAST, CCT5, CEP120, CHD1, CSF1R, CYFIP2, DDX41, DMGDH, DNAH5, DOCK2, F12, FAM134B, FAT2, FBN2, FBXO38, FGFR4, FLT4, FOXI1, FYB, GABRB2, GABRG2, GDF9, GHR, GM2A, GRM6, GRXCR2, HARS, HEXB, HMMR, HSD17B4, HSPA9, HSPB3, IL31RA, IRF1, ITGA2, KCNMB1, KLHL3, LARS, LIFR, MAP3K1, MCC, MCCC2, MEGF10, MSH3, MSX2, MTRR, MYOT, NDST1, NDUFAF2, NDUFS4, NDUFS6, NIPAL4, NPR3, NSD1, NSUN2, NUP155, OXCT1, PCDH12, PCSK1, PDE8B, PIK3R1, PITX1, PPP2R2B, PRDM6, PROP1, RARS, RPS23, SDHA, SH3PXD2B, SH3TC2, SIL1, SLC22A4, SLC22A5, SLC26A2, SLC36A2, SLC45A2, SLC6A19, SLC6A3, SLC9A3, SPINK5, SQSTM1, TERT, TGFBI, TMEM173, TRIM36, TRIO, VCAN, WDR36, WWC1, ZSWIM6,
ACSL6 Myelodysplastic syndrome (3)
Myelogenous leukemia, acute (3)
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)
BDP1 ?Deafness, autosomal recessive 112, 618257 (3)
C6 C6 deficiency, 612446 (3)
Combined C6/C7 deficiency (3)
C7 C7 deficiency, 610102 (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)
CEP120 Joubert syndrome 31, 617761 (3)
Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 (3)
CHD1 Pilarowski-Bjornsson syndrome, 617682 (3)
CSF1R Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 (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)
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)
HARS Charcot-Marie-Tooth disease, axonal, type 2W, 616625 (3)
Usher syndrome type 3B, 614504 (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)
IL31RA ?Amyloidosis, primary localized cutaneous, 2, 613955 (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)
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)
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)
NDUFS6 Mitochondrial complex I deficiency, nuclear type 9, 618232 (3)
NIPAL4 Ichthyosis, congenital, autosomal recessive 6, 612281 (3)
NPR3 ?Hypertension, salt-resistant (1)
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)
OXCT1 Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 (3)
PCDH12 Microcephaly, seizures, spasticity, and brain calcification, 251280 (3)
PCSK1 {Obesity, susceptibility to, BMIQ12}, 612362 (3)
Obesity with impaired prohormone processing, 600955 (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)
PPP2R2B Spinocerebellar ataxia 12, 604326 (3)
PRDM6 Patent ductus arteriosus 3, 617039 (3)
PROP1 Pituitary hormone deficiency, combined, 2, 262600 (3)
RARS Leukodystrophy, hypomyelinating, 9, 616140 (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)
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)
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)
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)
ZSWIM6 Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 (3)
Acromelic frontonasal dysostosis, 603671 (3)

Genes at Clinical Genomics Database

ADAMTS2, ADRB2, AMACR, ANKH, AP3B1, APC, ARSB, C6, C7, CAST, CCT5, CEP120, CSF1R, DDX41, DMGDH, DNAH5, DOCK2, F12, FAM134B, FBN2, FBXO38, FLT4, FOXI1, GABRG2, GHR, GM2A, GRM6, GRXCR2, HARS, HEXB, HSD17B4, HSPA9, HSPB3, IL31RA, KLHL3, LARS, LIFR, MAP3K1, MCCC2, MEGF10, MSH3, MSX2, MTRR, MYOT, NDST1, NDUFAF2, NDUFS4, NDUFS6, NIPAL4, NSD1, NUP155, OXCT1, PCSK1, PDE8B, PIK3R1, PITX1, PPP2R2B, PROP1, RARS, SDHA, SH3PXD2B, SH3TC2, SIL1, SLC22A5, SLC26A2, SLC36A2, SLC45A2, SLC6A19, SLC6A3, SPINK5, SQSTM1, TERT, TGFBI, TMEM173, VCAN, ZSWIM6,
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)
C6 Complement component 6 deficiency
C7 Complement component 7 deficiency
CAST Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (PLACK)
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia
CEP120 Short-rib thoracic dysplasia 13 with or without polydactyly
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
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
HARS Usher syndrome, type 3B
HEXB Sandhoff disease
HSD17B4 Perrault syndrome
HSPA9 Anemia, sideroblastic 4
HSPB3 Neuronopathy, distal hereditary motor, type IIC
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
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
NDUFS6 Mitochondrial complex I deficiency
NIPAL4 Ichthyosis, congenital, autosomal recessive
NSD1 Sotos syndrome
Weaver syndrome
Beckwith-Wiedemann syndrome
NUP155 Atrial fibrillation 15
OXCT1 Succinyl CoA:3-oxoacid CoA transferase deficiency
PCSK1 Proprotein convertase 1/3 deficiency
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
PPP2R2B Spinocerebellar ataxia 12
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
SH3PXD2B Frank-ter Haar syndrome
SH3TC2 Charcot-Marie-Tooth disease, type 4C
Mononeuropathy of the median nerve, mild
SIL1 Marinesco-Sjogren syndrome
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
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
ZSWIM6 Acromelic frontonasal dysostosis

Genes at HGMD

Summary

Number of Variants: 5172
Number of Genes: 465

Export to: CSV

ABLIM3

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 013 final 5 rs13362048
dbSNP Clinvar
148578636 2361.77 T C PASS 1/1 78 None None None 0.52756 0.52760 0.12 0.00 None None None None None None ABLIM3|0.394992795|21.09%
View 013 final 5 rs61999264
dbSNP Clinvar
148626067 947.77 G A PASS 0/1 66 SYNONYMOUS_CODING LOW SILENT 0.00799 0.00799 0.01276 None None None None None None ABLIM3|0.394992795|21.09%

AC005609.1

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 013 final 5 rs11321479
dbSNP Clinvar
140242451 2597.77 GC G PASS 0/1 159 FRAME_SHIFT HIGH 0.63079 0.63080 None None None None None None PCDHA1|0.053770874|61.55%,PCDHA2|0.022057729|73.14%,PCDHA3|0.065561586|58.47%,PCDHA4|0.052208094|62.01%,PCDHA5|0.043866789|64.55%,PCDHA6|0.050872533|62.4%,PCDHA7|0.028518768|70.18%,PCDHA8|0.015875262|76.54%,PCDHA9|0.018630148|74.91%,PCDHA10|0.087661567|53.69%
View 013 final 5 rs251369
dbSNP Clinvar
140242479 2634.77 T A PASS 0/1 191 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62760 0.62760 0.09 None None None None None None PCDHA1|0.053770874|61.55%,PCDHA2|0.022057729|73.14%,PCDHA3|0.065561586|58.47%,PCDHA4|0.052208094|62.01%,PCDHA5|0.043866789|64.55%,PCDHA6|0.050872533|62.4%,PCDHA7|0.028518768|70.18%,PCDHA8|0.015875262|76.54%,PCDHA9|0.018630148|74.91%,PCDHA10|0.087661567|53.69%

AC026703.1

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 013 final 5 rs1173756
dbSNP Clinvar
32789852 1597.77 T C PASS 0/1 115 SYNONYMOUS_CODING LOW SILENT 0.62600 0.62600 0.40643 None None None None None None NPR3|0.308047181|26.99%

AC136604.1

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 013 final 5 rs6882398
dbSNP Clinvar
179078940 18041.77 T C PASS 1/1 584 SYNONYMOUS_CODING LOW SILENT 0.95248 0.95250 None None None None None None None

AC138517.1

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 013 final 5 rs13153461
dbSNP Clinvar
138852369 2790.77 G A PASS 0/1 236 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.43431 0.43430 0.00 0.97 None None None None None None None

ACSL6

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 013 final 5 rs3043838
dbSNP Clinvar
131324250 4613.77 C CTG PASS 0/1 264 None None None 0.51338 0.51340 0.37550 None None None None None None ACSL6|0.245327247|31.99%

ADAM19

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 013 final 5 rs1422795
dbSNP Clinvar
156936364 5389.77 T C PASS 1/1 187 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.41454 0.41450 0.42873 0.23 0.29 None None None None None None ADAM19|0.121857186|47.16%

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 013 final 5 rs25754
dbSNP Clinvar
33535060 655.77 G A PASS 0/1 64 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.59964 0.59960 0.46125 0.19 0.04 None None None None None None ADAMTS12|0.089192289|53.4%
View 013 final 5 rs1530507
dbSNP Clinvar
33751454 1446.77 A T PASS 1/1 47 None None None 0.55691 0.55690 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 013 final 5 rs2086310
dbSNP Clinvar
5146335 5675.77 C G PASS 1/1 179 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.69549 0.69550 0.24077 1.00 0.00 None None None None None None ADAMTS16|0.017832591|75.4%
View 013 final 5 rs34105281
dbSNP Clinvar
5190182 938.77 C T PASS 0/1 110 SYNONYMOUS_CODING LOW SILENT 0.01897 0.01897 0.02065 None None None None None None ADAMTS16|0.017832591|75.4%
View 013 final 5 rs1863968
dbSNP Clinvar
5146395 2218.77 A G PASS 0/1 167 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.48283 0.48280 0.44804 0.06 0.00 None None None None None None ADAMTS16|0.017832591|75.4%
View 013 final 5 rs11742370
dbSNP Clinvar
5240002 1031.77 C A PASS 0/1 87 SYNONYMOUS_CODING LOW SILENT 0.11342 0.11340 0.14171 None None None None None None ADAMTS16|0.017832591|75.4%
View 013 final 5 rs11742341
dbSNP Clinvar
5239921 1497.77 C T PASS 0/1 132 SYNONYMOUS_CODING LOW SILENT 0.11462 0.11460 0.14480 None None None None None None ADAMTS16|0.017832591|75.4%
View 013 final 5 rs270208
dbSNP Clinvar
5140632 119.77 T C PASS 0/1 30 SYNONYMOUS_CODING LOW SILENT 0.62440 0.62440 0.40759 None None None None None None ADAMTS16|0.017832591|75.4%
View 013 final 5 rs1019747
dbSNP Clinvar
5146377 2104.77 T C PASS 0/1 169 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.49441 0.49440 0.44242 0.05 0.00 None None None None None None ADAMTS16|0.017832591|75.4%
View 013 final 5 rs6555335
dbSNP Clinvar
5200281 1962.77 C T PASS 1/1 68 SYNONYMOUS_CODING LOW SILENT 0.72524 0.72520 0.29491 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 013 final 5 rs6595908
dbSNP Clinvar
128863471 1555.77 A G PASS 1/1 53 NON_SYNONYMOUS_CODING MODERATE MISSENSE 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 013 final 5 rs423552
dbSNP Clinvar
178634619 7414.77 C T PASS 1/1 263 SYNONYMOUS_CODING LOW SILENT 0.92452 0.92450 0.08473 None None None None None None ADAMTS2|0.325728261|25.76%
View 013 final 5 rs1054480
dbSNP Clinvar
178540975 6277.77 G A PASS 1/1 206 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26378 0.26380 0.22174 0.71 0.08 None None None None None None ADAMTS2|0.325728261|25.76%
View 013 final 5 rs2278221
dbSNP Clinvar
178581859 2726.77 G A PASS 0/1 220 SYNONYMOUS_CODING LOW SILENT 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
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 013 final 5 rs13166360
dbSNP Clinvar
7520881 7653.77 G T PASS 1/1 251 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.09165 0.09165 0.19445 0.05 0.26 None None None None None None ADCY2|0.904669113|3.35%
View 013 final 5 rs2290910
dbSNP Clinvar
7802363 1973.77 C T PASS 1/1 67 SYNONYMOUS_CODING LOW SILENT 0.23343 0.23340 0.22828 None None None None None None ADCY2|0.904669113|3.35%
View 013 final 5 rs62342477
dbSNP Clinvar
7743787 951.77 C T PASS 0/1 88 SYNONYMOUS_CODING LOW SILENT 0.32368 0.32370 0.49854 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 013 final 5 rs1042717
dbSNP Clinvar
148206646 2398.77 G A PASS 0/1 221 SYNONYMOUS_CODING LOW SILENT 0.31470 0.31470 0.24174 None None None None None None ADRB2|0.766324239|6.71%
View 013 final 5 rs1042720
dbSNP Clinvar
148207633 425.77 G A PASS 0/1 48 SYNONYMOUS_CODING LOW SILENT 0.50879 0.50880 0.39780 None None None None None None ADRB2|0.766324239|6.71%
View 013 final 5 rs1042719
dbSNP Clinvar
148207447 1543.77 G C PASS 0/1 128 SYNONYMOUS_CODING LOW SILENT 0.37420 0.37420 0.30924 None None None None None None ADRB2|0.766324239|6.71%
View 013 final 5 rs1042714
dbSNP Clinvar
148206473 2508.77 G C PASS 0/1 188 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.79573 0.79570 0.34000 0.47 0.01 None None None None None None ADRB2|0.766324239|6.71%
View 013 final 5 rs1042718
dbSNP Clinvar
148206917 3626.77 C A PASS 0/1 272 SYNONYMOUS_CODING LOW SILENT 0.29772 0.29770 0.22151 None None None None None None ADRB2|0.766324239|6.71%

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 013 final 5 rs16899974
dbSNP Clinvar
34998877 868.77 C A PASS 0/1 68 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.23562 0.23560 0.17723 0.29 0.01 None None None None None None AGXT2|0.105323014|50.19%
View 013 final 5 rs37369
dbSNP Clinvar
35037115 4169.77 C T PASS 1/1 149 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39357 0.39360 0.23897 1.00 0.00 None None None None None None AGXT2|0.105323014|50.19%
View 013 final 5 rs180749
dbSNP Clinvar
35033605 2063.77 G A PASS 1/1 68 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.87500 0.87500 0.05790 0.23 0.00 None None None None None None AGXT2|0.105323014|50.19%
View 013 final 5 rs466067
dbSNP Clinvar
35010138 3242.77 A G PASS 1/1 104 SYNONYMOUS_CODING LOW SILENT 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
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 013 final 5 rs35008248
dbSNP Clinvar
376809 1799.77 T C PASS 0/1 186 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12260 0.12260 0.11769 0.32 0.01 None None None None None None AHRR|0.004021791|87%
View 013 final 5 rs76301536
dbSNP Clinvar
367969 2068.77 G A PASS 0/1 204 None None None 0.03095 0.03095 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 013 final 5 rs10472909
dbSNP Clinvar
33994116 2044.77 A T PASS 1/1 70 None None None 0.37520 0.37520 None None None None None None AMACR|0.038358163|66.34%
View 013 final 5 rs10941112
dbSNP Clinvar
34004707 3542.77 C T PASS 1/1 123 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.25260 0.25260 0.38421 0.02 0.62 None None None None None None AMACR|0.038358163|66.34%
View 013 final 5 rs3195676
dbSNP Clinvar
34008100 5726.77 C T PASS 1/1 199 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.28694 0.28690 0.41759 0.01 0.09 None None None None None None AMACR|0.038358163|66.34%
View 013 final 5 rs2278008
dbSNP Clinvar
33989518 2153.77 C T PASS 0/1 172 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.69609 0.69610 0.24089 0.95 0.00 None None None None None None AMACR|0.038358163|66.34%
View 013 final 5 rs2287939
dbSNP Clinvar
33998883 3728.77 A G PASS 1/1 130 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.71486 0.71490 0.25135 0.33 0.01 None None None None None None AMACR|0.038358163|66.34%

ANKDD1B

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 013 final 5 rs34358
dbSNP Clinvar
74965122 1424.77 G A PASS 0/1 115 STOP_GAINED HIGH NONSENSE 0.50699 0.50700 None None None None None None ANKDD1B|0.036539802|66.95%

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 013 final 5 rs2288474
dbSNP Clinvar
14741984 1654.77 T C PASS 0/1 180 SYNONYMOUS_CODING LOW SILENT 0.08387 0.08387 0.05828 None None None None None None ANKH|0.170147079|40.3%

ANKRD31

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 013 final 5 rs10563854,rs796339850
dbSNP Clinvar
74491715 6793.77 TTCA T PASS 1/1 152 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.58147 0.58150 0.49535 None None None None None None ANKRD31|0.011398689|79.69%
View 013 final 5 rs1422699
dbSNP Clinvar
74442410 1802.77 G A PASS 1/1 61 SYNONYMOUS_CODING LOW SILENT 0.58506 0.58510 None None None None None None ANKRD31|0.011398689|79.69%
View 013 final 5 rs6888707
dbSNP Clinvar
74442920 2711.77 A G PASS 1/1 89 SYNONYMOUS_CODING LOW SILENT 0.58526 0.58530 0.48774 None None None None None None ANKRD31|0.011398689|79.69%
View 013 final 5 rs1422698
dbSNP Clinvar
74443132 2610.77 C T PASS 1/1 84 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.58506 0.58510 0.48795 1.00 0.00 None None None None None None ANKRD31|0.011398689|79.69%
View 013 final 5 rs2219745
dbSNP Clinvar
74506658 1055.77 C T PASS 1/1 40 SYNONYMOUS_CODING LOW SILENT 0.25879 0.25880 None None None None None None ANKRD31|0.011398689|79.69%
View 013 final 5 rs961098
dbSNP Clinvar
74400386 3030.77 G C PASS 1/1 98 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.21266 0.21270 0.13447 1.00 0.07 None None None None None None ANKRD31|0.011398689|79.69%

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 013 final 5 rs11745612
dbSNP Clinvar
10638180 3444.77 T C PASS 1/1 110 SYNONYMOUS_CODING LOW SILENT 0.37101 0.37100 0.43057 None None None None None None ANKRD33B|0.01613202|76.38%
View 013 final 5 rs1531839
dbSNP Clinvar
10624887 2457.77 T C PASS 1/1 83 None None None 0.51138 0.51140 0.01 0.00 None None None None None None ANKRD33B|0.01613202|76.38%
View 013 final 5 rs814576
dbSNP Clinvar
10564846 2180.77 C T PASS 1/1 74 SYNONYMOUS_CODING LOW SILENT 0.96426 0.96430 None None None None None None ANKRD33B|0.01613202|76.38%
View 013 final 5 rs56969869
dbSNP Clinvar
10650150 1498.77 A G PASS 1/1 51 SYNONYMOUS_CODING LOW SILENT 0.30771 0.30770 0.34428 None None None None None None ANKRD33B|0.01613202|76.38%
View 013 final 5 rs113222960
dbSNP Clinvar
10649784 230.78 G A PASS 1/1 8 SYNONYMOUS_CODING LOW SILENT 0.26018 0.26020 None None None None None None ANKRD33B|0.01613202|76.38%
View 013 final 5 rs10062687
dbSNP Clinvar
10624866 1361.77 T G PASS 0/1 98 None None None 0.13459 0.13460 0.00 0.00 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 013 final 5 rs32857
dbSNP Clinvar
79855372 2645.77 A G PASS 1/1 87 NON_SYNONYMOUS_CODING MODERATE MISSENSE 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 013 final 5 rs11960458
dbSNP Clinvar
150480520 1631.77 C T PASS 0/1 140 None None None 0.23223 0.23220 0.00 0.01 None None None None None None ANXA6|0.284174792|28.78%
View 013 final 5 rs1133202
dbSNP Clinvar
150489390 3635.77 A G PASS 1/1 133 SYNONYMOUS_CODING LOW SILENT 0.75819 0.75820 0.21680 None None None None None None ANXA6|0.284174792|28.78%
View 013 final 5 rs2228458
dbSNP Clinvar
150518988 5375.77 G A PASS 1/1 170 SYNONYMOUS_CODING LOW SILENT 0.27756 0.27760 0.17837 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 013 final 5 rs42360
dbSNP Clinvar
77412011 1462.77 A G PASS 1/1 47 SYNONYMOUS_CODING LOW SILENT 0.18890 0.18890 0.24204 None None None None None None AP3B1|0.638758531|10.5%
View 013 final 5 rs4532349
dbSNP Clinvar
77473165 1221.77 A G PASS 1/1 38 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.14277 0.14280 0.18714 None None None None None None AP3B1|0.638758531|10.5%
View 013 final 5 rs6453373
dbSNP Clinvar
77425028 2198.77 A T PASS 1/1 78 NON_SYNONYMOUS_CODING MODERATE MISSENSE 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 013 final 5 rs250430
dbSNP Clinvar
139941228 6503.77 A G PASS 1/1 212 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.90575 0.90580 0.11018 1.00 0.00 None None None None None None APBB3|0.268238369|30.01%
View 013 final 5 rs250431
dbSNP Clinvar
139940233 5606.77 G A PASS 1/1 186 SYNONYMOUS_CODING LOW SILENT 0.63139 0.63140 0.41227 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 013 final 5 rs351771
dbSNP Clinvar
112164561 555.77 G A PASS 0/1 53 SYNONYMOUS_CODING LOW SILENT 0.66613 0.66610 0.41357 None None None None None None APC|0.952088564|2.19%
View 013 final 5 rs465899
dbSNP Clinvar
112177171 619.77 G A PASS 0/1 49 SYNONYMOUS_CODING LOW SILENT 0.66653 0.66650 0.41309 None None None None None None APC|0.952088564|2.19%
View 013 final 5 rs459552
dbSNP Clinvar
112176756 895.77 T A PASS 0/1 81 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.86542 0.86540 0.17374 0.50 0.00 None None None None None None APC|0.952088564|2.19%
View 013 final 5 rs866006
dbSNP Clinvar
112176559 1056.77 T G PASS 0/1 105 SYNONYMOUS_CODING LOW SILENT 0.66693 0.66690 0.41201 None None None None None None APC|0.952088564|2.19%
View 013 final 5 rs42427
dbSNP Clinvar
112176325 1401.77 G A PASS 0/1 94 SYNONYMOUS_CODING LOW SILENT 0.66673 0.66670 0.40987 None None None None None None APC|0.952088564|2.19%
View 013 final 5 rs41115
dbSNP Clinvar
112175770 843.77 G A PASS 0/1 96 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH 0.66554 0.66550 0.41378 None None None None None None APC|0.952088564|2.19%
View 013 final 5 rs2229992
dbSNP Clinvar
112162854 816.77 T C PASS 0/1 68 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.50998 0.51000 0.46217 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 013 final 5 rs12522632
dbSNP Clinvar
115298518 7215.77 A G PASS 1/1 247 SYNONYMOUS_CODING LOW SILENT 0.17741 None None None None None None None
View 013 final 5 rs1445708
dbSNP Clinvar
115298977 1547.77 C T PASS 0/1 121 SYNONYMOUS_CODING LOW SILENT 0.38918 0.38920 0.34532 None None None None None None None
View 013 final 5 rs10062297
dbSNP Clinvar
115298378 3261.77 C T PASS 1/1 108 SYNONYMOUS_CODING LOW SILENT 0.77496 0.77500 0.16337 None None None None None None None
View 013 final 5 rs12520255
dbSNP Clinvar
115298475 5921.77 T C PASS 1/1 189 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.77396 0.77400 0.17663 0.86 0.00 None None None None None None None
View 013 final 5 rs10078748
dbSNP Clinvar
115341611 2068.77 G T PASS 1/1 75 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.77676 0.77680 0.18315 None None None None None None None
View 013 final 5 rs10078759
dbSNP Clinvar
115341638 1921.77 G C PASS 1/1 64 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.18292 0.02 0.15 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 013 final 5 rs12514851
dbSNP Clinvar
141051236 1794.77 C T PASS 0/1 158 SYNONYMOUS_CODING LOW SILENT 0.18331 0.18330 0.14563 None None None None None None ARAP3|0.158448394|41.8%
View 013 final 5 rs7703648
dbSNP Clinvar
141036337 5498.77 A G PASS 1/1 178 SYNONYMOUS_CODING LOW SILENT 0.48143 0.48140 0.48808 None None None None None None ARAP3|0.158448394|41.8%
View 013 final 5 rs417503
dbSNP Clinvar
141059649 4052.77 A G PASS 1/1 129 SYNONYMOUS_CODING LOW SILENT 0.78335 0.78330 0.21659 None None None None None None ARAP3|0.158448394|41.8%
View 013 final 5 rs11167756
dbSNP Clinvar
141059868 8859.77 T C PASS 1/1 281 SYNONYMOUS_CODING LOW SILENT 0.46566 0.46570 0.42826 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 013 final 5 rs258819
dbSNP Clinvar
142593652 675.77 C T PASS 1/1 22 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.99641 0.99640 0.00377 None None None None None None ARHGAP26|0.689373516|8.81%
View 013 final 5 rs185200
dbSNP Clinvar
142254679 2854.77 A G PASS 1/1 92 SYNONYMOUS_CODING LOW SILENT 0.67372 0.67370 0.46202 None None None None None None ARHGAP26|0.689373516|8.81%
View 013 final 5 rs2270068
dbSNP Clinvar
142421415 5220.77 T G PASS 1/1 186 SYNONYMOUS_CODING LOW SILENT 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 013 final 5 rs10473959
dbSNP Clinvar
73072504 1781.77 A C PASS 0/1 132 SYNONYMOUS_CODING LOW SILENT 0.03754 0.03754 0.04346 None None None None None None ARHGEF28|0.15892968|41.74%
View 013 final 5 rs1478453
dbSNP Clinvar
73207372 1384.77 T A PASS 0/1 91 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.30232 0.30230 0.38488 0.30 0.00 None None None None None None ARHGEF28|0.15892968|41.74%
View 013 final 5 rs17634853
dbSNP Clinvar
73205463 1383.77 G A PASS 0/1 89 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03514 0.03514 0.02560 0.16 0.03 None None None None None None ARHGEF28|0.15892968|41.74%
View 013 final 5 rs7716253
dbSNP Clinvar
73090261 889.77 T C PASS 0/1 56 SYNONYMOUS_CODING LOW SILENT 0.61342 0.61340 0.39609 None None None None None None ARHGEF28|0.15892968|41.74%
View 013 final 5 rs2973568
dbSNP Clinvar
73144845 554.77 A G PASS 0/1 49 SYNONYMOUS_CODING LOW SILENT 0.67632 0.67630 0.32967 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 013 final 5 rs1135093
dbSNP Clinvar
149008521 1460.77 A G PASS 1/1 40 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.69369 0.69370 0.28951 0.64 0.00 None None None None None None ARHGEF37|0.046932636|63.62%
View 013 final 5 rs1056993
dbSNP Clinvar
149008403 3418.77 A G PASS 1/1 108 SYNONYMOUS_CODING LOW SILENT 0.67213 0.67210 0.31076 None None None None None None ARHGEF37|0.046932636|63.62%
View 013 final 5 rs2400891
dbSNP Clinvar
148989122 1217.77 C T PASS 0/1 110 SYNONYMOUS_CODING LOW SILENT 0.37720 0.37720 0.46349 None None None None None None ARHGEF37|0.046932636|63.62%
View 013 final 5 rs9324624
dbSNP Clinvar
149006640 5195.77 C T PASS 1/1 170 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.37560 0.37560 0.47589 0.00 0.96 None None None None None None ARHGEF37|0.046932636|63.62%

ARL10

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 013 final 5 rs2303667
dbSNP Clinvar
175792605 961.77 G C PASS 0/1 91 SYNONYMOUS_CODING LOW SILENT 0.55651 0.55650 0.41598 None None None None None None ARL10|0.060845523|59.64%

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 013 final 5 rs6880759
dbSNP Clinvar
115394626 3643.77 G A PASS 1/1 110 SYNONYMOUS_CODING LOW SILENT 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 013 final 5 rs35941
dbSNP Clinvar
53606295 3664.77 T C PASS 1/1 121 SYNONYMOUS_CODING LOW SILENT 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 013 final 5 rs1071598
dbSNP Clinvar
78181423 1135.77 C T PASS 0/1 164 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.10863 0.10860 0.13701 0.19 0.12 None None None None None None ARSB|0.08485524|54.24%
View 013 final 5 rs25413
dbSNP Clinvar
78135201 1673.77 C T PASS 0/1 155 SYNONYMOUS_CODING LOW SILENT 0.25919 0.25920 0.29179 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 013 final 5 rs6579784
dbSNP Clinvar
149677851 7192.77 A G PASS 1/1 222 SYNONYMOUS_CODING LOW SILENT 0.99880 0.99880 0.00584 None None None None None None ARSI|0.132727876|45.51%