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Genes:
ABLIM3, AC005609.1, AC008948.1, AC136604.1, AC138517.1, ACOT12, ACSL6, ACTBL2, ADAM19, ADAMTS12, ADAMTS16, ADAMTS19, ADAMTS2, ADCY2, ADRA1B, AFAP1L1, AGGF1, AGXT2, AHRR, ALDH7A1, AMACR, ANKDD1B, ANKHD1, ANKRD31, ANKRD33B, ANKRD34B, ANXA6, AP3B1, APBB3, APC, AQPEP, ARAP3, ARHGAP26, ARHGEF28, ARHGEF37, ARL10, ARL14EPL, ARL15, ARSB, ARSI, ATG10, ATP10B, B4GALT7, BDP1, BHMT2, BRD8, BTNL3, BTNL8, BTNL9, C1QTNF2, C5orf17, C5orf22, C5orf27, C5orf34, C5orf38, C5orf45, C5orf47, C5orf56, C5orf58, C5orf60, C5orf64, C6, C7, CAMK2A, CAMK4, CAMLG, CANX, CAPSL, CARD6, CAST, CATSPER3, CCDC69, CCT5, CD14, CD180, CDC20B, CDC25C, CDH12, CDH18, CDH6, CDH9, CDHR2, CDK7, CDX1, CEP120, CEP72, CETN3, CHSY3, CMBL, CMYA5, CNOT6, COL23A1, COL4A3BP, COMMD10, CREBRF, CSF1R, CTC-241N9.1, CTD-2215E18.1, CTD-2228K2.5, CTNNA1, CTXN3, CYFIP2, DAB2, DAP, DBN1, DCP2, DDX4, DMGDH, DMXL1, DNAH5, DNAJC18, DND1, DOCK2, DOK3, DRD1, DROSHA, DUSP1, EGFLAM, ELL2, ENC1, EPB41L4A, ERAP1, ERAP2, ERBB2IP, ERCC8, EXOC3, F12, F2RL1, FABP6, FAM105A, FAM114A2, FAM134B, FAM13B, FAM151B, FAM153A, FAM153B, FAM172A, FAM173B, FAM174A, FAM193B, FAM196B, FAM81B, FASTKD3, FAT2, FBLL1, FBN2, FBXL17, FBXL21, FBXO38, FCHO2, FCHSD1, FER, FGFR4, FLT4, FNDC9, FNIP1, FOXD1, FOXI1, FYB, GABRA6, GABRG2, GABRP, GCNT4, GDF9, GEMIN5, GFM2, GFPT2, GHR, GLRA1, GLRX, GM2A, GNPDA1, GPBP1, GPR150, GPR98, GPRIN1, GPX8, GRAMD3, GRIA1, GRK6, GRM6, GRXCR2, GZMA, HAND1, HAPLN1, HAVCR1, HAVCR2, HDAC3, HEXB, HK3, HMGXB3, HMHB1, HMMR, HOMER1, HRH2, HSD17B4, HSPA9, HSPB3, IL13, IL3, IL31RA, IPO11, IQGAP2, IRF1, IRX1, IRX2, IRX4, ISL1, ISOC1, ITGA1, ITGA2, JADE2, JMY, KCNIP1, KCNN2, KDM3B, KIAA0141, KIAA0825, KIAA0947, KIF4B, KLHL3, LARP1, LARS, LCP2, LECT2, LHFPL2, LMBRD2, LNPEP, LPCAT1, LYRM7, LYSMD3, MAN2A1, MAP1B, MAP3K1, MARVELD2, MAST4, MBLAC2, MCC, MCCC2, MCIDAS, MCTP1, MEGF10, MGAT1, MIER3, MOCS2, MROH2B, MRPL22, MRPS27, MSH3, MSX2, MTRR, MYO10, MYOT, MYOZ3, N4BP3, NADK2, NAIP, NDST1, NDUFS4, NDUFS6, NEURL1B, NIPAL4, NIPBL, NKD2, NLN, NMUR2, NNT, NOP16, NRG2, NSA2, NSD1, NSG2, NSUN2, NUDT12, NUP155, OR2V2, OR2Y1, OSMR, OTP, PAPD7, PARP8, PCDH1, PCDH12, PCDHA1, PCDHA10, PCDHA12, PCDHA13, PCDHA3, PCDHA4, PCDHA8, PCDHA9, PCDHAC2, PCDHB10, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHGA1, PCDHGA2, PCDHGA3, PCDHGA8, PCDHGA9, PCDHGB3, PCSK1, PDCD6, PDE8B, PDGFRB, PDLIM7, PDZD2, PELO, PIK3R1, PITX1, PJA2, PKD2L2, PLAC8L1, PLEKHG4B, PLK2, POC5, POLK, POU4F3, PPARGC1B, PPP2R2B, PPWD1, PRDM6, PRDM9, PRELID1, PROB1, PROP1, PRR16, RAD17, RAI14, RANBP17, RANBP3L, RAPGEF6, RARS, RASGEF1C, RBM27, RELL2, RFESD, RGMB, RGS7BP, RICTOR, RIOK2, RMND5B, RNF130, RNF44, RP11-45H22.3, RPS14, RPS23, RUFY1, S100Z, SCAMP1, SDHA, SEMA5A, SEMA6A, SEPP1, SEPT8, SETD9, SGCD, SH3PXD2B, SH3RF2, SH3TC2, SIL1, SLC12A2, SLC12A7, SLC22A5, SLC23A1, SLC25A2, SLC25A48, SLC26A2, SLC34A1, SLC36A2, SLC36A3, SLC38A9, SLC45A2, SLC4A9, SLC6A18, SLC6A19, SLC6A3, SLC6A7, SLC9A3, SLCO4C1, SLCO6A1, SLIT3, SLU7, SMAD5, SNX18, SOWAHA, SPATA24, SPATA9, SPDL1, SPEF2, SPINK5, SPINK6, SPINK9, SPZ1, SQSTM1, SRA1, SRD5A1, SREK1IP1, STK10, STK32A, SV2C, TAF7, TAS2R1, TBC1D9B, TBCA, TCERG1, TCF7, TCOF1, TENM2, TGFBI, THG1L, TIGD6, TIMD4, TMCO6, TMED9, TMEM161B, TMEM171, TMEM173, TMEM232, TNFAIP8, TNPO1, TPPP, TRIM36, TRIO, TSPAN17, TXNDC15, UGT3A1, UIMC1, UNC5A, VCAN, WDR36, WDR41, WDR55, WNT8A, WWC1, YTHDC2, ZBED3, ZCCHC9, ZDHHC11, ZDHHC11B, ZFP2, ZFP62, ZFR, ZFYVE16, ZNF131, ZNF354A, ZNF354B, ZNF354C, ZNF366, ZNF454, ZNF608, ZSWIM6,

Genes at Omim

ACSL6, ADAMTS2, AGXT2, ALDH7A1, AMACR, AP3B1, APC, ARHGAP26, ARSB, B4GALT7, BDP1, C6, C7, CAMK2A, CAST, CCT5, CEP120, COL4A3BP, CSF1R, CTNNA1, CYFIP2, DMGDH, DNAH5, DOCK2, ERCC8, F12, FAM134B, FAT2, FBN2, FBXO38, FGFR4, FLT4, FOXI1, FYB, GABRG2, GDF9, GHR, GLRA1, GM2A, GRM6, GRXCR2, HEXB, HMMR, HSD17B4, HSPA9, HSPB3, IL13, IL31RA, IRF1, ITGA2, KLHL3, LARS, LYRM7, MAP3K1, MARVELD2, MCC, MCCC2, MEGF10, MOCS2, MSH3, MSX2, MTRR, MYOT, NADK2, NDST1, NDUFS4, NDUFS6, NIPAL4, NIPBL, NNT, NSD1, NSUN2, NUP155, OSMR, PCDH12, PCSK1, PDE8B, PDGFRB, PIK3R1, PITX1, POU4F3, PPARGC1B, PPP2R2B, PRDM6, PROP1, RARS, RPS14, RPS23, SDHA, SGCD, SH3PXD2B, SH3TC2, SIL1, SLC22A5, SLC26A2, SLC34A1, SLC36A2, SLC45A2, SLC6A19, SLC6A3, SLC9A3, SPINK5, SQSTM1, TCOF1, TGFBI, TMEM173, TRIM36, TRIO, VCAN, WDR36, WWC1, ZSWIM6,
ACSL6 Myelodysplastic syndrome (3)
Myelogenous leukemia, acute (3)
ADAMTS2 Ehlers-Danlos syndrome, dermatosparaxis type, 225410 (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)
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)
COL4A3BP Mental retardation, autosomal dominant 34, 616351 (3)
CSF1R Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 (3)
CTNNA1 Macular dystrophy, patterned, 2, 608970 (3)
CYFIP2 Epileptic encephalopathy, early infantile, 65, 618008 (3)
DMGDH Dimethylglycine dehydrogenase deficiency, 605850 (3)
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
DOCK2 Immunodeficiency 40, 616433 (3)
ERCC8 Cockayne syndrome, type A, 216400 (3)
UV-sensitive syndrome 2, 614621 (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)
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)
GLRA1 Hyperekplexia 1, 149400 (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)
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)
LYRM7 Mitochondrial complex III deficiency, nuclear type 8, 615838 (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)
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)
NADK2 ?2,4-dienoyl-CoA reductase deficiency, 616034 (3)
NDST1 Mental retardation, autosomal recessive 46, 616116 (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)
NIPBL Cornelia de Lange syndrome 1, 122470 (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)
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)
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)
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)
POU4F3 Deafness, autosomal dominant 15, 602459 (3)
PPARGC1B {Obesity, variation in}, 601665 (3)
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)
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)
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)
SLC34A1 Hypercalcemia, infantile, 2, 616963 (3)
?Fanconi renotubular syndrome 2, 613388 (3)
Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 (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)
TCOF1 Treacher Collins syndrome 1, 154500 (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, ALDH7A1, AMACR, AP3B1, APC, ARSB, B4GALT7, C6, C7, CAST, CCT5, CEP120, COL4A3BP, CSF1R, CTNNA1, DMGDH, DNAH5, DOCK2, ERCC8, F12, FAM134B, FBN2, FBXO38, FLT4, FOXI1, GABRG2, GHR, GLRA1, GM2A, GRM6, GRXCR2, HEXB, HSD17B4, HSPA9, HSPB3, IL31RA, KLHL3, LARS, LYRM7, MAP3K1, MARVELD2, MCCC2, MEGF10, MOCS2, MSH3, MSX2, MTRR, MYOT, NADK2, NDST1, NDUFS4, NDUFS6, NIPAL4, NIPBL, NNT, NSD1, NUP155, OSMR, PCSK1, PDE8B, PDGFRB, PIK3R1, PITX1, POU4F3, PPP2R2B, PROP1, RARS, SDHA, SGCD, SH3PXD2B, SH3TC2, SIL1, SLC22A5, SLC26A2, SLC34A1, SLC36A2, SLC45A2, SLC6A19, SLC6A3, SPINK5, SQSTM1, TCOF1, TGFBI, TMEM173, VCAN, ZSWIM6,
ADAMTS2 Ehlers-Danlos syndrome, type VII
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
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
COL4A3BP Mental retardation, autosomal dominant 34
CSF1R Leukoencephalopathy, diffuse hereditary, with spheroids
CTNNA1 Hereditary diffuse gastric cancer, familial
DMGDH Dimethylglycine dehydrogenase deficiency
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus
DOCK2 Immunodeficiency 40
ERCC8 UV-sensitive syndrome 2
Cockayne syndrome type A
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)
GLRA1 Hyperekplexia, hereditary
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
KLHL3 Pseudohypoaldosteronism, type IID
LARS Infantile liver failure syndrome 1
LYRM7 Mitochondrial complex III deficiency, nuclear type 8
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
MSX2 Craniosynostosis, type 2
Parietal foramina with cleidocranial dysplasia
Parietal foramina 1
MTRR Homocystinuria-megaloblastic anemia, cobalamin E type
MYOT Myopathy, myofibrillar, 3
NADK2 2,4-dienoyl-CoA reductase deficiency
NDST1 Mental retardation, autosomal recessive 46
NDUFS4 Mitochondrial complex I deficiency
Leigh syndrome
NDUFS6 Mitochondrial complex I deficiency
NIPAL4 Ichthyosis, congenital, autosomal recessive
NIPBL Cornelia de Lange syndrome 1
NNT Glucocorticoid deficiency 4
NSD1 Sotos syndrome
Weaver syndrome
Beckwith-Wiedemann syndrome
NUP155 Atrial fibrillation 15
OSMR Amyloidosis, primary localized cutaneous, 1
PCSK1 Proprotein convertase 1/3 deficiency
PDE8B Pigmented nodular adrenocortical disease, primary, 3
PDGFRB Basal ganglia calcification, idiopathic, 4
Kosaki overgrowth syndrome
Myofibromatosis, infantile 1
Premature aging syndrome, Penttinen type
PIK3R1 Agammaglobulinemia 7, autosomal recessive
PITX1 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly
Liebenberg syndrome
POU4F3 Deafness, autosomal dominant 15
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
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
SLC22A5 Carnitine deficiency, systemic primary
SLC26A2 Achondrogenesis, type IB
Atelosteogenesis II
De la Chapelle dysplasia
Diastrophic dysplasia
Epiphyseal dysplasia, multiple, 4
SLC34A1 Fanconi renotubular syndrome 2
Nephrolithiasis/osteoporosis, hypophosphatemic, 1
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
TCOF1 Treacher Collins syndrome 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: 7132
Number of Genes: 461

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 combined sample_66.variant27 5 rs13362048
dbSNP Clinvar
148578636 1773.9 T C PASS 1/1 46 None None None 0.52756 0.52760 0.12 0.00 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 combined sample_66.variant27 5 rs11321479
dbSNP Clinvar
140242451 1933.83 GC G PASS 1/1 182 FRAME_SHIFT HIGH None 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 combined sample_66.variant27 5 rs251369
dbSNP Clinvar
140242479 1737.4 T A PASS 1/1 195 NON_SYNONYMOUS_CODING MODERATE None 0.62760 0.62760 0.84 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%

AC008948.1

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 combined sample_66.variant27 5 rs149085489
dbSNP Clinvar
101570503 2048.54 CT... C PASS 0/1 101 CODON_DELETION MODERATE None 0.40575 0.40580 None None None None None None SLCO4C1|0.038449749|66.31%

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 combined sample_66.variant27 5 rs6882398
dbSNP Clinvar
179078940 7665.69 T C PASS 1/1 450 SYNONYMOUS_CODING LOW None 0.95248 0.95250 -1.09 0.00 0.07457 T 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 combined sample_66.variant27 5 rs13153461
dbSNP Clinvar
138852369 1137.49 G A PASS 1/1 160 NON_SYNONYMOUS_CODING MODERATE None 0.43431 0.43430 0.00 0.97 None None None None None None None

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 combined sample_66.variant27 5 rs10371
dbSNP Clinvar
80631642 961.65 C T PASS 0/1 118 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%

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 combined sample_66.variant27 5 rs3043838
dbSNP Clinvar
131324250 1736.24 C CTG PASS 0/1 128 None None None 0.51338 0.51340 0.37550 None None None None None None ACSL6|0.245327247|31.99%

ACTBL2

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 combined sample_66.variant27 5 rs61737336
dbSNP Clinvar
56778103 2944.82 A G PASS 0/1 188 SYNONYMOUS_CODING LOW None 0.05931 0.05931 0.09496 None None None None None None ACTBL2|0.152729251|42.58%

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 combined sample_66.variant27 5 rs1422795
dbSNP Clinvar
156936364 2405.22 T C PASS 0/1 218 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%

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 combined sample_66.variant27 5 rs25754
dbSNP Clinvar
33535060 746.09 G A PASS 0/1 60 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 combined sample_66.variant27 5 rs2086310
dbSNP Clinvar
5146335 997.8 C G PASS 1/1 132 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 combined sample_66.variant27 5 rs1019747
dbSNP Clinvar
5146377 1609.19 T C PASS 0/1 120 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%
View combined sample_66.variant27 5 rs1863968
dbSNP Clinvar
5146395 3259.32 A G PASS 0/1 134 NON_SYNONYMOUS_CODING MODERATE None 0.48283 0.48280 0.44804 0.06 0.00 None None None None None None ADAMTS16|0.017832591|75.4%
View combined sample_66.variant27 5 rs6555335
dbSNP Clinvar
5200281 2839.34 C T PASS 0/1 100 SYNONYMOUS_CODING LOW None 0.72524 0.72520 0.29491 None None None None None None ADAMTS16|0.017832591|75.4%
View combined sample_66.variant27 5 rs270208
dbSNP Clinvar
5140632 629.61 T C PASS 0/1 53 SYNONYMOUS_CODING LOW None 0.62440 0.62440 0.40759 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 combined sample_66.variant27 5 rs6595908
dbSNP Clinvar
128863471 2686.19 A G PASS 1/1 110 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 combined sample_66.variant27 5 rs66565583
dbSNP Clinvar
178634547 765.35 G A PASS 0/1 129 SYNONYMOUS_CODING LOW None 0.13578 0.13580 0.17361 None None None None None None ADAMTS2|0.325728261|25.76%
View combined sample_66.variant27 5 rs398829
dbSNP Clinvar
178634672 1161.14 C T PASS 0/1 141 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 combined sample_66.variant27 5 rs2278221
dbSNP Clinvar
178581859 1611.81 G A PASS 0/1 157 SYNONYMOUS_CODING LOW None 0.22844 0.22840 0.18691 None None None None None None ADAMTS2|0.325728261|25.76%
View combined sample_66.variant27 5 rs1054480
dbSNP Clinvar
178540975 1854.15 G A PASS 1/1 156 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 combined sample_66.variant27 5 rs13166360
dbSNP Clinvar
7520881 531.61 G T PASS 0/1 148 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%
View combined sample_66.variant27 5 rs62342477
dbSNP Clinvar
7743787 1123.17 C T PASS 0/1 74 SYNONYMOUS_CODING LOW None 0.32368 0.32370 0.49854 None None None None None None ADCY2|0.904669113|3.35%

ADRA1B

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 combined sample_66.variant27 5 rs3729604
dbSNP Clinvar
159344461 832.46 G A PASS 0/1 136 SYNONYMOUS_CODING LOW None 0.20188 0.20190 0.17108 None None None None None None ADRA1B|0.287986878|28.52%

AFAP1L1

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 combined sample_66.variant27 5 rs17854053
dbSNP Clinvar
148687152 384.86 G A PASS 0/1 23 SYNONYMOUS_CODING LOW None 0.02955 0.02955 0.05036 None None None None None None AFAP1L1|0.18559894|38.29%

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 combined sample_66.variant27 5 rs13155212
dbSNP Clinvar
76343999 754.1 T C PASS 0/1 29 SYNONYMOUS_CODING LOW None 0.22205 0.22200 0.24708 None None None None None None AGGF1|0.089872136|53.25%
View combined sample_66.variant27 5 rs34400049
dbSNP Clinvar
76359024 312.35 C A PASS 0/1 58 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 combined sample_66.variant27 5 . 35047969 1969.64 C G PASS 0/1 147 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.12 None None None None None None AGXT2|0.105323014|50.19%
View combined sample_66.variant27 5 rs16899974
dbSNP Clinvar
34998877 1157.37 C A PASS 0/1 71 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 combined sample_66.variant27 5 rs466067
dbSNP Clinvar
35010138 2964.9 A G PASS 1/1 99 SYNONYMOUS_CODING LOW None 0.89457 0.89460 0.04198 None None None None None None AGXT2|0.105323014|50.19%
View combined sample_66.variant27 5 rs180749
dbSNP Clinvar
35033605 1910.78 G A PASS 1/1 38 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 combined sample_66.variant27 5 rs2279651
dbSNP Clinvar
35039437 1227.85 A G PASS 1/1 63 SYNONYMOUS_CODING LOW None 0.39916 0.39920 0.46063 None None None None None None AGXT2|0.105323014|50.19%
View combined sample_66.variant27 5 rs37370
dbSNP Clinvar
35039486 1395.21 C T PASS 1/1 75 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%

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 combined sample_66.variant27 5 rs11741954
dbSNP Clinvar
421455 2527.2 G T PASS 0/1 204 None None None 0.13958 0.13960 None None None None None None AHRR|0.004021791|87%
View combined sample_66.variant27 5 rs2292596
dbSNP Clinvar
422955 571.15 C G PASS 0/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.30247 0.19 0.08 None None None None None None AHRR|0.004021791|87%
View combined sample_66.variant27 5 rs34453673
dbSNP Clinvar
434722 1786.53 G C PASS 0/1 105 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%

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 combined sample_66.variant27 5 rs60720055
dbSNP Clinvar
125928395 607.48 A G PASS 0/1 83 SYNONYMOUS_CODING LOW None 0.06030 0.06030 0.06697 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 combined sample_66.variant27 5 rs10472909
dbSNP Clinvar
33994116 914.97 A T PASS 0/1 105 None None None 0.37520 0.37520 None None None None None None AMACR|0.038358163|66.34%
View combined sample_66.variant27 5 rs16892096
dbSNP Clinvar
33994182 1671.88 T C PASS 0/1 119 None None None 0.10603 0.10600 0.02 0.00 None None None None None None AMACR|0.038358163|66.34%
View combined sample_66.variant27 5 rs2287939
dbSNP Clinvar
33998883 1543.4 A G PASS 0/1 120 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 combined sample_66.variant27 5 rs10941112
dbSNP Clinvar
34004707 1178.56 C T PASS 0/1 129 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 combined sample_66.variant27 5 rs3195676
dbSNP Clinvar
34008100 2844.3 C T PASS 0/1 260 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%

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 combined sample_66.variant27 5 rs34358
dbSNP Clinvar
74965122 1272.26 G A PASS 0/1 89 STOP_GAINED HIGH None 0.50699 0.50700 None None None None None None ANKDD1B|0.036539802|66.95%
View combined sample_66.variant27 5 rs9332464
dbSNP Clinvar
74921686 1779.27 G A PASS 0/1 161 NON_SYNONYMOUS_CODING MODERATE None 0.32468 0.32470 1.00 0.00 None None None None None None ANKDD1B|0.036539802|66.95%

ANKHD1

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 combined sample_66.variant27 5 rs1051309
dbSNP Clinvar
139905844 629.94 G A PASS 0/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.00499 0.00499 0.01499 0.64 None None None None None None ANKHD1|0.568575164|13.07%,ANKHD1-EIF4EBP3|0.787338012|6.18%

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 combined sample_66.variant27 5 rs961098
dbSNP Clinvar
74400386 1536.4 G C PASS 0/1 108 NON_SYNONYMOUS_CODING MODERATE None 0.21266 0.21270 0.13447 1.00 0.66 None None None None None None ANKRD31|0.011398689|79.69%
View combined sample_66.variant27 5 rs1422699
dbSNP Clinvar
74442410 1093.29 G A PASS 0/1 88 SYNONYMOUS_CODING LOW None 0.58506 0.58510 None None None None None None ANKRD31|0.011398689|79.69%
View combined sample_66.variant27 5 rs6888707
dbSNP Clinvar
74442920 1568.08 A G PASS 0/1 111 SYNONYMOUS_CODING LOW None 0.58526 0.58530 0.48774 None None None None None None ANKRD31|0.011398689|79.69%
View combined sample_66.variant27 5 rs1422698
dbSNP Clinvar
74443132 2074.77 C T PASS 0/1 137 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%
View combined sample_66.variant27 5 rs10563854,rs796339850
dbSNP Clinvar
74491715 2444.23 TTCA T PASS 0/1 142 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 combined sample_66.variant27 5 rs2219745
dbSNP Clinvar
74506658 221.89 C T PASS 0/1 63 SYNONYMOUS_CODING LOW None 0.25879 0.25880 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 combined sample_66.variant27 5 rs1531839
dbSNP Clinvar
10624887 825.3 T C PASS 0/1 56 None None None 0.51138 0.51140 0.01 0.00 None None None None None None ANKRD33B|0.01613202|76.38%
View combined sample_66.variant27 5 rs11745612
dbSNP Clinvar
10638180 580.47 T C PASS 0/1 99 SYNONYMOUS_CODING LOW None 0.37101 0.37100 0.43057 None None None None None None ANKRD33B|0.01613202|76.38%
View combined sample_66.variant27 5 rs814576
dbSNP Clinvar
10564846 1387.67 C T PASS 1/1 56 SYNONYMOUS_CODING LOW None 0.96426 0.96430 None None None None None None ANKRD33B|0.01613202|76.38%
View combined sample_66.variant27 5 rs10062687
dbSNP Clinvar
10624866 580.85 T G PASS 0/1 72 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 combined sample_66.variant27 5 rs32857
dbSNP Clinvar
79855372 2836.28 A G PASS 0/1 77 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 combined sample_66.variant27 5 rs1133202
dbSNP Clinvar
150489390 3516.3 A G PASS 1/1 131 SYNONYMOUS_CODING LOW None 0.75819 0.75820 0.21680 None None None None None None ANXA6|0.284174792|28.78%
View combined sample_66.variant27 5 rs2228458
dbSNP Clinvar
150518988 1449.13 G A PASS 0/1 123 SYNONYMOUS_CODING LOW None 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 combined sample_66.variant27 5 rs6453373
dbSNP Clinvar
77425028 1939.34 A T PASS 1/1 132 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 combined sample_66.variant27 5 rs250431
dbSNP Clinvar
139940233 370.13 G A PASS 0/1 109 SYNONYMOUS_CODING LOW None 0.63139 0.63140 0.41227 None None None None None None APBB3|0.268238369|30.01%
View combined sample_66.variant27 5 rs250430
dbSNP Clinvar
139941228 1233.86 A G PASS 1/1 155 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 combined sample_66.variant27 5 rs866006
dbSNP Clinvar
112176559 3648.72 T G PASS 0/1 113 SYNONYMOUS_CODING LOW None 0.66693 0.66690 0.41201 None None None None None None APC|0.952088564|2.19%
View combined sample_66.variant27 5 rs459552
dbSNP Clinvar
112176756 4645.73 T A PASS 0/1 112 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 combined sample_66.variant27 5 rs465899
dbSNP Clinvar
112177171 1324.01 G A PASS 0/1 53 SYNONYMOUS_CODING LOW None 0.66653 0.66650 0.41309 None None None None None None APC|0.952088564|2.19%
View combined sample_66.variant27 5 rs2229992
dbSNP Clinvar
112162854 1875.76 T C PASS 0/1 99 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.50998 0.51000 0.46217 None None None None None None APC|0.952088564|2.19%
View combined sample_66.variant27 5 rs351771
dbSNP Clinvar
112164561 2879.89 G A PASS 0/1 96 SYNONYMOUS_CODING LOW None 0.66613 0.66610 0.41357 None None None None None None APC|0.952088564|2.19%
View combined sample_66.variant27 5 rs41115
dbSNP Clinvar
112175770 3164.59 G A PASS 0/1 93 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH None 0.66554 0.66550 0.41378 None None None None None None APC|0.952088564|2.19%
View combined sample_66.variant27 5 rs42427
dbSNP Clinvar
112176325 2386.48 G A PASS 0/1 92 SYNONYMOUS_CODING LOW None 0.66673 0.66670 0.40987 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 combined sample_66.variant27 5 rs10062297
dbSNP Clinvar
115298378 1760.47 C T PASS 0/1 77 SYNONYMOUS_CODING LOW None 0.77496 0.77500 0.16337 None None None None None None None
View combined sample_66.variant27 5 rs12520255
dbSNP Clinvar
115298475 3403.7 T C PASS 0/1 172 NON_SYNONYMOUS_CODING MODERATE None 0.77396 0.77400 0.17663 0.86 0.00 None None None None None None None
View combined sample_66.variant27 5 rs12522632
dbSNP Clinvar
115298518 5037.89 A G PASS 0/1 218 SYNONYMOUS_CODING LOW None 0.17741 None None None None None None None
View combined sample_66.variant27 5 rs1445708
dbSNP Clinvar
115298977 1540.31 C T PASS 0/1 72 SYNONYMOUS_CODING LOW None 0.38918 0.38920 0.34532 None None None None None None None
View combined sample_66.variant27 5 rs7712021
dbSNP Clinvar
115336862 1057.95 T C PASS 0/1 80 SYNONYMOUS_CODING LOW None 0.25479 0.25480 0.33690 None None None None None None None
View combined sample_66.variant27 5 rs10078748
dbSNP Clinvar
115341611 3480.76 G T PASS 0/1 116 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.77676 0.77680 0.18315 None None None None None None None
View combined sample_66.variant27 5 rs10078759
dbSNP Clinvar
115341638 3111.87 G C PASS 0/1 98 NON_SYNONYMOUS_CODING MODERATE None 0.18292 0.02 0.59 None None None None None None None
View combined sample_66.variant27 5 rs17138646
dbSNP Clinvar
115346245 1478.67 T G PASS 0/1 93 None None None 0.00 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 combined sample_66.variant27 5 rs1031904
dbSNP Clinvar
141059158 1547.29 C G PASS 0/1 121 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 combined sample_66.variant27 5 rs417503
dbSNP Clinvar
141059649 3676.18 A G PASS 1/1 177 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 combined sample_66.variant27 5 rs185200
dbSNP Clinvar
142254679 748.3 A G PASS 0/1 58 SYNONYMOUS_CODING LOW None 0.67372 0.67370 0.46202 None None None None None None ARHGAP26|0.689373516|8.81%
View combined sample_66.variant27 5 rs2270068
dbSNP Clinvar
142421415 3991.26 T G PASS 1/1 171 SYNONYMOUS_CODING LOW None 0.88818 0.88820 0.00169 None None None None None None ARHGAP26|0.689373516|8.81%
View combined sample_66.variant27 5 rs258819
dbSNP Clinvar
142593652 586.73 C T PASS 1/1 35 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.99641 0.99640 0.00377 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 combined sample_66.variant27 5 rs7714670
dbSNP Clinvar
73072354 4145.36 T C PASS 0/1 157 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 combined sample_66.variant27 5 rs6453022
dbSNP Clinvar
73076511 2510.43 C A PASS 0/1 96 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 combined sample_66.variant27 5 rs7716253
dbSNP Clinvar
73090261 3007.47 T C PASS 0/1 73 SYNONYMOUS_CODING LOW None 0.61342 0.61340 0.39609 None None None None None None ARHGEF28|0.15892968|41.74%
View combined sample_66.variant27 5 rs188040167
dbSNP Clinvar
73197089 3068.73 G A PASS 0/1 131 NON_SYNONYMOUS_CODING MODERATE None 0.00120 0.00120 0.00375 0.44 0.03 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 combined sample_66.variant27 5 rs2400891
dbSNP Clinvar
148989122 2176.28 C T PASS 0/1 88 SYNONYMOUS_CODING LOW None 0.37720 0.37720 0.46349 None None None None None None ARHGEF37|0.046932636|63.62%
View combined sample_66.variant27 5 rs4629585
dbSNP Clinvar
149001551 2254.53 A C PASS 0/1 82 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%
View combined sample_66.variant27 5 rs1056993
dbSNP Clinvar
149008403 1937.2 A G PASS 0/1 66 SYNONYMOUS_CODING LOW None 0.67213 0.67210 0.31076 None None None None None None ARHGEF37|0.046932636|63.62%
View combined sample_66.variant27 5 rs3733662
dbSNP Clinvar
149008467 477.03 C A PASS 0/1 34 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 combined sample_66.variant27 5 rs1135093
dbSNP Clinvar
149008521 286.77 A G PASS 0/1 17 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%

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 combined sample_66.variant27 5 rs2303667
dbSNP Clinvar
175792605 10507.9 G C PASS 0/1 276 SYNONYMOUS_CODING LOW None 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 combined sample_66.variant27 5 rs6880325
dbSNP Clinvar
115394551 1148.4 C T PASS 0/1 103 SYNONYMOUS_CODING LOW None 0.07528 0.07528 None None None None None None ARL14EPL|0.056195492|60.86%
View combined sample_66.variant27 5 rs6880759
dbSNP Clinvar
115394626 2679.93 G A,T PASS 0/2 108 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 combined sample_66.variant27 5 rs35941
dbSNP Clinvar
53606295 2855.01 T C PASS 1/1 132 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 combined sample_66.variant27 5 rs25413
dbSNP Clinvar
78135201 1963.48 C T PASS 0/1 215 SYNONYMOUS_CODING LOW None 0.25919 0.25920 0.29179 None None None None None None ARSB|0.08485524|54.24%
View combined sample_66.variant27 5 rs1071598
dbSNP Clinvar
78181423 165.1 C T PASS 1/1 48 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%

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 combined sample_66.variant27 5 rs6579784
dbSNP Clinvar
149677851 4888.81 A G PASS 1/1 160 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
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_66.variant27 5 rs3734114
dbSNP Clinvar
81354389 3713.1 T C PASS 0/1 126 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%
View combined sample_66.variant27 5 rs1864183
dbSNP Clinvar
81549216 5302.7 C T PASS 0/1 175 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 combined sample_66.variant27 5 rs1864182
dbSNP Clinvar
81549240 4597.42 C A PASS 0/1 162 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%