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Genes:
ABLIM3, AC008394.1, AC010441.1, AC026703.1, AC027309.1, AC136604.1, AC138517.1, ACOT12, ACTBL2, ADAM19, ADAMTS12, ADAMTS16, ADAMTS19, ADAMTS2, ADCY2, ADRA1B, ADRB2, AGGF1, AGXT2, AHRR, AMACR, ANKDD1B, ANKH, ANKRD33B, ANKRD34B, ANXA2R, ANXA6, AP3B1, APBB3, APC, AQPEP, ARAP3, ARHGAP26, ARHGEF28, ARHGEF37, ARL10, ARL14EPL, ARL15, ARSB, ARSI, ATG10, ATP10B, ATP6AP1L, B4GALT7, BDP1, BHMT, BRD8, BTNL9, C5orf17, C5orf20, C5orf27, C5orf34, C5orf38, C5orf42, C5orf45, C5orf46, C5orf52, C5orf56, C5orf58, C5orf60, C5orf64, C6, C7, C9, CAMK2A, CAMK4, CANX, CAPSL, CARD6, CAST, CATSPER3, CCDC125, CCDC127, CCDC69, CCNH, CCNI2, CCNJL, CCNO, CCT5, CD14, CD180, CDC20B, CDC25C, CDH12, CDH18, CDH6, CDH9, CDHR2, CDK7, CDX1, CEP120, CEP72, CETN3, CHSY3, CMBL, CMYA5, CNOT6, COL23A1, COL4A3BP, COMMD10, CRHBP, CSF1R, CSF2, CTB-78H18.1, CTC-241N9.1, CTD-2215E18.1, CTD-2228K2.5, CTNNA1, CTXN3, CWC27, CYFIP2, DBN1, DCP2, DCTN4, DDX4, DHX29, DIMT1, DMGDH, DNAH5, DNAJC18, DND1, DOCK2, DOK3, DRD1, DROSHA, DUSP1, EGFLAM, EIF4E1B, ENC1, EPB41L4A, ERAP1, ERAP2, ERBB2IP, EXOC3, F12, F2RL1, FAM114A2, FAM134B, FAM13B, FAM151B, FAM153A, FAM153B, FAM159B, FAM173B, FAM174A, FAM193B, FAM71B, FAM81B, FASTKD3, FAT2, FAXDC2, FBN2, FBXL17, FBXL21, FBXO38, FCHSD1, FGFR4, FLT4, FNDC9, FNIP1, FOXD1, FOXI1, FSTL4, FYB, GABRA6, GALNT10, GDF9, GEMIN5, GFM2, GFPT2, GFRA3, GHR, GLRX, GM2A, GNPDA1, GPBP1, GPR150, GPR151, GPR98, GPRIN1, GPX3, GPX8, GRAMD3, GRIA1, GRK6, GRM6, GZMA, GZMK, H2AFY, HAND1, HAPLN1, HAVCR1, HAVCR2, HEXB, HK3, HMGCS1, HMGXB3, HMHB1, HMMR, HNRNPA0, HSD17B4, HSPA9, HTR4, IL13, IL3, IL31RA, IL4, IL7R, IPO11, IQGAP2, IRF1, IRGM, IRX1, IRX4, ISOC1, ITGA1, ITGA2, JMY, KCNIP1, KCNMB1, KCNN2, KDM3B, KIAA0141, KIAA0825, KIF3A, KIF4B, KLHL3, LARS, LCP2, LECT2, LHFPL2, LMBRD2, LMNB1, LPCAT1, LRRC14B, LRRC70, LYSMD3, MAN2A1, MAP1B, MAP3K1, MARVELD2, MAST4, MAT2B, MBLAC2, MCC, MCCC2, MCIDAS, MCTP1, MEGF10, MFAP3, MGAT1, MGAT4B, MIER3, MROH2B, MRPS27, MRPS30, MSH3, MSX2, MTRR, MXD3, MYO10, MYOT, MYOZ3, N4BP3, NAIP, NDST1, NDUFAF2, NDUFS4, NDUFS6, NEURL1B, NIM1K, NIPAL4, NIPBL, NKD2, NKX2-5, NLN, NMUR2, NNT, NOP16, NPR3, NSA2, NSD1, NSUN2, NUDT12, NUP155, OR2V1, OR2V2, OR2Y1, OSMR, OTP, PARP8, PCDH12, PCDHA1, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHAC1, PCDHAC2, PCDHB10, PCDHB12, PCDHB16, PCDHB5, PCDHB6, PCDHB8, PCDHGA1, PCDHGA2, PCDHGA5, PCDHGA8, PCDHGB2, PCDHGB3, PCSK1, PDCD6, PDE6A, PDE8B, PDGFRB, PDLIM4, PDLIM7, PDZD2, PELO, PHYKPL, PIK3R1, PITX1, PJA2, PKD2L2, PLAC8L1, PLEKHG4B, PLK2, POC5, POLK, PPARGC1B, PPIC, PPWD1, PRDM6, PRDM9, PRELID1, PRLR, PROB1, PROP1, PRR16, PRRC1, PTGER4, PWWP2A, RAD17, RAD50, RAI14, RANBP3L, RAPGEF6, RARS, RASGEF1C, RASGRF2, RBM22, REEP5, RELL2, RFESD, RGMB, RGS7BP, RHOBTB3, RICTOR, RIOK2, RMND5B, RNF130, RNF44, RP11-45H22.3, RPS14, RPS23, RUFY1, S100Z, SCAMP1, SDHA, SEMA5A, SEMA6A, SEPP1, SEPT8, SETD9, SH3RF2, SH3TC2, SHROOM1, SIL1, SIMC1, SKIV2L2, SLC12A2, SLC12A7, SLC22A4, SLC22A5, SLC23A1, SLC25A2, SLC25A46, SLC25A48, SLC26A2, SLC27A6, SLC34A1, SLC36A1, SLC36A2, SLC36A3, SLC38A9, SLC45A2, SLC4A9, SLC6A18, SLC6A19, SLC6A7, SLC9A3, SLCO4C1, SLCO6A1, SLIT3, SLU7, SMAD5, SNX18, SOWAHA, SOX30, SPATA24, SPATA9, SPDL1, SPEF2, SPINK5, SPINK6, SPINK9, SPZ1, SQSTM1, SRA1, SRD5A1, SSBP2, STK10, STK32A, SV2C, TAS2R1, TBC1D9B, TBCA, TCERG1, TCOF1, TENM2, TGFBI, THBS4, THG1L, THOC3, TIFAB, TIGD6, TIMD4, TMEM161B, TMEM171, TMEM173, TMEM232, TNIP1, TNPO1, TPPP, TRIM36, TRIM7, TRIO, TRPC7, TSPAN17, TSSK1B, TTC37, UGT3A1, UIMC1, UNC5A, VCAN, WDR36, WDR41, WDR55, WNT8A, WWC1, XRCC4, YTHDC2, ZBED3, ZDHHC11, ZDHHC11B, ZFP62, ZFR, ZFYVE16, ZNF131, ZNF354A, ZNF354B, ZNF354C, ZNF366, ZNF454, ZNF608, ZSWIM6,

Genes at Omim

ADAMTS2, ADRB2, AGXT2, AMACR, ANKH, AP3B1, APC, ARHGAP26, ARSB, B4GALT7, BDP1, C6, C7, C9, CAMK2A, CAST, CCNO, CCT5, CEP120, COL4A3BP, CSF1R, CTNNA1, CWC27, CYFIP2, DMGDH, DNAH5, DOCK2, F12, FAM134B, FAT2, FBN2, FBXO38, FGFR4, FLT4, FOXI1, FYB, GDF9, GHR, GM2A, GRM6, HEXB, HMMR, HSD17B4, HSPA9, IL13, IL31RA, IL7R, IRF1, IRGM, ITGA2, KCNMB1, KLHL3, LARS, LMNB1, MAP3K1, MARVELD2, MCC, MCCC2, MEGF10, MSH3, MSX2, MTRR, MYOT, NDST1, NDUFAF2, NDUFS4, NDUFS6, NIPAL4, NIPBL, NKX2-5, NNT, NPR3, NSD1, NSUN2, NUP155, OSMR, PCDH12, PCSK1, PDE6A, PDE8B, PDGFRB, PHYKPL, PIK3R1, PITX1, PPARGC1B, PRDM6, PRLR, PROP1, RAD50, RARS, RPS14, RPS23, SDHA, SH3TC2, SIL1, SLC22A4, SLC22A5, SLC25A46, SLC26A2, SLC34A1, SLC36A2, SLC45A2, SLC6A19, SLC9A3, SPINK5, SQSTM1, TCOF1, TGFBI, TMEM173, TRIM36, TRIO, TTC37, VCAN, WDR36, WWC1, XRCC4, ZSWIM6,
ADAMTS2 Ehlers-Danlos syndrome, dermatosparaxis type, 225410 (3)
ADRB2 Beta-2-adrenoreceptor agonist, reduced response to (3)
{Obesity, susceptibility to}, 601665 (3)
{Asthma, nocturnal, susceptibility to}, 600807 (3)
AGXT2 [Beta-aminoisobutyric acid, urinary excretion of], 210100 (3)
AMACR Alpha-methylacyl-CoA racemase deficiency, 614307 (3)
Bile acid synthesis defect, congenital, 4, 214950 (3)
ANKH Chondrocalcinosis 2, 118600 (3)
Craniometaphyseal dysplasia, 123000 (3)
AP3B1 Hermansky-Pudlak syndrome 2, 608233 (3)
APC Adenoma, periampullary, somatic (3)
Adenomatous polyposis coli, 175100 (3)
Gardner syndrome, 175100 (3)
Gastric cancer, somatic, 613659 (3)
Brain tumor-polyposis syndrome 2, 175100 (3)
Hepatoblastoma, somatic, 114550 (3)
Colorectal cancer, somatic, 114500 (3)
Desmoid disease, hereditary, 135290 (3)
ARHGAP26 Leukemia, juvenile myelomonocytic, somatic, 607785 (3)
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3)
B4GALT7 Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070 (3)
BDP1 ?Deafness, autosomal recessive 112, 618257 (3)
C6 C6 deficiency, 612446 (3)
Combined C6/C7 deficiency (3)
C7 C7 deficiency, 610102 (3)
C9 C9 deficiency, 613825 (3)
{Macular degeneration, age-related, 15, susceptibility to}, 615591 (3)
CAMK2A Mental retardation, autosomal dominant 53, 617798 (3)
?Mental retardation, autosomal recessive 63, 618095 (3)
CAST Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295 (3)
CCNO Ciliary dyskinesia, primary, 29, 615872 (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)
CWC27 Retinitis pigmentosa with or without skeletal anomalies, 250410 (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)
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)
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)
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)
IL13 {Allergic rhinitis, susceptibility to}, 607154 (3)
{Asthma, susceptibility to}, 600807 (3)
IL31RA ?Amyloidosis, primary localized cutaneous, 2, 613955 (3)
IL7R Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)
IRF1 Gastric cancer, somatic, 613659 (3)
Myelodysplastic syndrome, preleukemic (3)
Myelogenous leukemia, acute (3)
Nonsmall cell lung cancer, somatic, 211980 (3)
IRGM {Inflammatory bowel disease (Crohn disease) 19}, 612278 (3)
{Mycobacterium tuberculosis, protection against}, 607948 (3)
ITGA2 ?Glycoprotein Ia deficiency, 614200 (1)
KCNMB1 {Hypertension, diastolic, resistance to}, 608622 (3)
KLHL3 Pseudohypoaldosteronism, type IID, 614495 (3)
LARS ?Infantile liver failure syndrome 1, 615438 (3)
LMNB1 Leukodystrophy, adult-onset, autosomal dominant, 169500 (3)
MAP3K1 46XY sex reversal 6, 613762 (3)
MARVELD2 Deafness, autosomal recessive 49, 610153 (3)
MCC Colorectal cancer, somatic, 114500 (3)
MCCC2 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 (3)
MEGF10 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3)
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 (3)
MSH3 Familial adenomatous polyposis 4, 617100 (3)
Endometrial carcinoma, somatic, 608089 (3)
MSX2 Craniosynostosis 2, 604757 (3)
Parietal foramina 1, 168500 (3)
Parietal foramina with cleidocranial dysplasia, 168550 (3)
MTRR Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3)
{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
MYOT Myopathy, myofibrillar, 3, 609200 (3)
Myopathy, spheroid body, 182920 (3)
NDST1 Mental retardation, autosomal recessive 46, 616116 (3)
NDUFAF2 Mitochondrial complex I deficiency, nuclear type 10, 618233 (3)
NDUFS4 Mitochondrial complex I deficiency, nuclear type 1, 252010 (3)
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)
NKX2-5 Atrial septal defect 7, with or without AV conduction defects, 108900 (3)
Hypoplastic left heart syndrome 2, 614435 (3)
Hypothyroidism, congenital nongoitrous, 5, 225250 (3)
Conotruncal heart malformations, variable, 217095 (3)
Tetralogy of Fallot, 187500 (3)
Ventricular septal defect 3, 614432 (3)
NNT Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 (3)
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)
OSMR Amyloidosis, primary localized cutaneous, 1, 105250 (3)
PCDH12 Microcephaly, seizures, spasticity, and brain calcification, 251280 (3)
PCSK1 {Obesity, susceptibility to, BMIQ12}, 612362 (3)
Obesity with impaired prohormone processing, 600955 (3)
PDE6A Retinitis pigmentosa 43, 613810 (3)
PDE8B Pigmented nodular adrenocortical disease, primary, 3, 614190 (3)
Striatal degeneration, autosomal dominant, 609161 (3)
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)
PHYKPL [?Phosphohydroxylysinuria], 615011 (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)
PPARGC1B {Obesity, variation in}, 601665 (3)
PRDM6 Patent ductus arteriosus 3, 617039 (3)
PRLR Hyperprolactinemia, 615555 (3)
Multiple fibroadenomas of the breast, 615554 (3)
PROP1 Pituitary hormone deficiency, combined, 2, 262600 (3)
RAD50 Nijmegen breakage syndrome-like disorder, 613078 (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)
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)
SLC25A46 Neuropathy, hereditary motor and sensory, type VIB, 616505 (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)
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)
TTC37 Trichohepatoenteric syndrome 1, 222470 (3)
VCAN Wagner syndrome 1, 143200 (3)
WDR36 Glaucoma 1, open angle, G, 609887 (3)
WWC1 [Memory, enhanced, QTL], 615602 (3)
XRCC4 Short stature, microcephaly, and endocrine dysfunction, 616541 (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, B4GALT7, C6, C7, C9, CAST, CCNO, CCT5, CEP120, COL4A3BP, CSF1R, CTNNA1, DMGDH, DNAH5, DOCK2, F12, FAM134B, FBN2, FBXO38, FLT4, FOXI1, GHR, GM2A, GRM6, HEXB, HSD17B4, HSPA9, IL31RA, IL7R, KLHL3, LARS, LMNB1, MAP3K1, MARVELD2, MCCC2, MEGF10, MSH3, MSX2, MTRR, MYOT, NDST1, NDUFAF2, NDUFS4, NDUFS6, NIPAL4, NIPBL, NKX2-5, NNT, NSD1, NUP155, OSMR, PCSK1, PDE6A, PDE8B, PDGFRB, PHYKPL, PIK3R1, PITX1, PRLR, PROP1, RAD50, RARS, SDHA, SH3TC2, SIL1, SLC22A5, SLC25A46, SLC26A2, SLC34A1, SLC36A2, SLC45A2, SLC6A19, SPINK5, SQSTM1, TCOF1, TGFBI, TMEM173, TTC37, VCAN, XRCC4, 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)
B4GALT7 Ehlers-Danlos syndrome with short stature and limb anomalies
C6 Complement component 6 deficiency
C7 Complement component 7 deficiency
C9 Complement component 9 deficiency
CAST Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (PLACK)
CCNO Ciliary dyskinesia, primary 29
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
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
GHR Growth hormone insensitivity syndrome (Laron syndrome)
GM2A GM2-gangliosidosis, AB variant
GRM6 Night blindness, congenital stationary, type 1B
HEXB Sandhoff disease
HSD17B4 Perrault syndrome
HSPA9 Anemia, sideroblastic 4
IL31RA Amyloidois, primary localized cutaneous, 2
IL7R Severe combined immunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK cell positive
KLHL3 Pseudohypoaldosteronism, type IID
LARS Infantile liver failure syndrome 1
LMNB1 Leukodystrophy, adult-onset, autosomal dominant
MAP3K1 46,XY sex reversal 6
MARVELD2 Deafness, autosomal recessive 49
MCCC2 3-Methylcrotonyl-CoA carboxylase 2 deficiency
MEGF10 Myopathy, early-onset, areflexia, respiratory distress, and dysphagia
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
NIPBL Cornelia de Lange syndrome 1
NKX2-5 Atrial septal defect 7, with or without AV conduction defects
Conotruncal heart malformations
Hypothyroidism, congenital nongoitrous, 5
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
PDE6A Retinitis pigmentosa 43
PDE8B Pigmented nodular adrenocortical disease, primary, 3
PDGFRB Basal ganglia calcification, idiopathic, 4
Kosaki overgrowth syndrome
Myofibromatosis, infantile 1
Premature aging syndrome, Penttinen type
PHYKPL Phosphohydroxylysinuria
PIK3R1 Agammaglobulinemia 7, autosomal recessive
PITX1 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly
Liebenberg syndrome
PRLR Hyperprolactinemia
Multiple fibroadenomas of the breast
PROP1 Pituitary hormone deficiency, combined, 2
RAD50 Breast cancer, susceptibility to
RARS Leukodystrophy, hypomyelinating 9
SDHA Paragangliomas 5
Gastrointestinal stromal tumors
Cardiomyopathy, dilated, 1GG
Leigh syndrome/Mitochondrial respiratory chain complex II deficiency
SH3TC2 Charcot-Marie-Tooth disease, type 4C
Mononeuropathy of the median nerve, mild
SIL1 Marinesco-Sjogren syndrome
SLC22A5 Carnitine deficiency, systemic primary
SLC25A46 Neuropathy, hereditary motor and sensory, type VIB
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
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)
TTC37 Trichohepatoenteric syndrome 1
VCAN Wagner syndrome 1
XRCC4 Short stature, microcephaly, and endocrine dysfunction
ZSWIM6 Acromelic frontonasal dysostosis

Genes at HGMD

Summary

Number of Variants: 23527
Number of Genes: 480

Export to: CSV
  • Page 1 of 236

ABLIM3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View final-ma145 5 rs13362048
dbSNP Clinvar
148578636 2057.77 T C PASS 0/1 188 None None None 0.52756 0.52760 0.12 0.00 None None None None None None ABLIM3|0.394992795|21.09%

AC008394.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View final-ma145 5 rs254643
dbSNP Clinvar
86513974 52.74 A G PASS 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.87800 0.87800 0.00 None None None None None None None

AC010441.1

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 final-ma145 5 rs12653537
dbSNP Clinvar
150158164 2042.77 C G PASS 0/1 188 NON_SYNONYMOUS_CODING MODERATE None 0.15655 0.15650 0.08078 0.00 None None None None None None SMIM3|0.109216744|49.34%
View final-ma145 5 rs12657686
dbSNP Clinvar
150158226 1218.77 A C PASS 0/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.15655 0.15650 0.07686 0.00 None None None None None None SMIM3|0.109216744|49.34%
View final-ma145 5 rs12653541
dbSNP Clinvar
150158199 1551.77 C T PASS 0/1 123 NON_SYNONYMOUS_CODING MODERATE None 0.15655 0.15650 0.07832 0.00 None None None None None None SMIM3|0.109216744|49.34%

AC026703.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View final-ma145 5 rs1173756
dbSNP Clinvar
32789852 9523.77 T C PASS 1/1 300 SYNONYMOUS_CODING LOW None 0.62600 0.62600 0.40643 None None None None None None NPR3|0.308047181|26.99%

AC027309.1

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 final-ma145 5 rs4867681
dbSNP Clinvar
172036332 136.9 T C PASS 1/1 5 SYNONYMOUS_CODING LOW None 0.32089 0.32090 None None None None None None None

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 final-ma145 5 rs6882398
dbSNP Clinvar
179078940 7111.77 T C PASS 1/1 229 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 final-ma145 5 rs13153461
dbSNP Clinvar
138852369 1960.77 G A PASS 0/1 165 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 final-ma145 5 rs10371
dbSNP Clinvar
80631642 1144.77 C T PASS 0/1 140 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%

ACTBL2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View final-ma145 5 rs61737336
dbSNP Clinvar
56778103 4327.77 A G PASS 0/1 352 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 final-ma145 5 rs1422795
dbSNP Clinvar
156936364 3692.77 T C PASS 1/1 122 NON_SYNONYMOUS_CODING MODERATE None 0.41454 0.41450 0.42873 0.23 0.03 None None None None None None ADAM19|0.121857186|47.16%
View final-ma145 5 rs11134767
dbSNP Clinvar
156908653 1953.77 C T PASS 0/1 150 NON_SYNONYMOUS_CODING MODERATE None 0.02356 0.02356 0.04737 0.90 0.00 None None None None None None ADAM19|0.121857186|47.16%
View final-ma145 5 rs10067096
dbSNP Clinvar
156917340 4915.77 A C PASS 1/1 150 NON_SYNONYMOUS_CODING MODERATE None 0.12041 0.12040 0.19660 0.30 0.17 None None None None None None ADAM19|0.121857186|47.16%

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 final-ma145 5 rs1530507
dbSNP Clinvar
33751454 2822.77 A T PASS 1/1 89 None None None 0.55691 0.55690 None None None None None None ADAMTS12|0.089192289|53.4%
View final-ma145 5 rs25754
dbSNP Clinvar
33535060 636.77 G A PASS 0/1 52 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 final-ma145 5 rs270208
dbSNP Clinvar
5140632 123.77 T C PASS 0/1 9 SYNONYMOUS_CODING LOW None 0.62440 0.62440 0.40759 None None None None None None ADAMTS16|0.017832591|75.4%
View final-ma145 5 rs2086310
dbSNP Clinvar
5146335 6218.77 C G PASS 1/1 198 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 final-ma145 5 rs1863968
dbSNP Clinvar
5146395 3820.77 A G PASS 1/1 115 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 final-ma145 5 rs6555335
dbSNP Clinvar
5200281 1000.77 C T PASS 0/1 162 SYNONYMOUS_CODING LOW None 0.72524 0.72520 0.29491 None None None None None None ADAMTS16|0.017832591|75.4%
View final-ma145 5 rs11742341
dbSNP Clinvar
5239921 1150.77 C T PASS 0/1 99 SYNONYMOUS_CODING LOW None 0.11462 0.11460 0.14480 None None None None None None ADAMTS16|0.017832591|75.4%
View final-ma145 5 rs11742370
dbSNP Clinvar
5240002 725.77 C A PASS 0/1 61 SYNONYMOUS_CODING LOW None 0.11342 0.11340 0.14171 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 final-ma145 5 rs182638734
dbSNP Clinvar
128797156 248.77 C G PASS 0/1 17 SYNONYMOUS_CODING LOW None 0.20687 0.20690 None None None None None None ADAMTS19|0.08763198|53.7%
View final-ma145 5 rs147557427
dbSNP Clinvar
128797258 379.77 G C PASS 0/1 55 SYNONYMOUS_CODING LOW None 0.00839 0.00839 0.00500 None None None None None None ADAMTS19|0.08763198|53.7%
View final-ma145 5 rs6595908
dbSNP Clinvar
128863471 529.77 A G PASS 1/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.99920 0.99920 0.00392 1.00 0.00 None None None None None None ADAMTS19|0.08763198|53.7%

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 final-ma145 5 rs423552
dbSNP Clinvar
178634619 12156.77 C T PASS 1/1 389 SYNONYMOUS_CODING LOW None 0.92452 0.92450 0.08473 None None None None None None ADAMTS2|0.325728261|25.76%
View final-ma145 5 rs568040559
dbSNP Clinvar
178772259 418.73 G GGCA VQSRTrancheINDEL94.00to95.00 0/1 17 CODON_INSERTION MODERATE None 0.18051 0.18050 None None None None None None ADAMTS2|0.325728261|25.76%
View final-ma145 5 rs11750821
dbSNP Clinvar
178634683 2608.77 C T PASS 0/1 144 NON_SYNONYMOUS_CODING MODERATE None 0.07189 0.07188 0.07089 0.23 0.00 None None None None None None ADAMTS2|0.325728261|25.76%
View final-ma145 5 rs2303644
dbSNP Clinvar
178555045 4592.77 G A PASS 0/1 355 SYNONYMOUS_CODING LOW None 0.12999 0.13000 0.17246 None None None None None None ADAMTS2|0.325728261|25.76%
View final-ma145 5 rs1972715
dbSNP Clinvar
178562967 2097.77 G A PASS 0/1 159 SYNONYMOUS_CODING LOW None 0.19649 0.19650 0.23997 None None None None None None ADAMTS2|0.325728261|25.76%
View final-ma145 5 rs2271212
dbSNP Clinvar
178770981 6635.77 A G PASS 1/1 216 SYNONYMOUS_CODING LOW None 0.30895 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 final-ma145 5 rs13166360
dbSNP Clinvar
7520881 5192.77 G T PASS 0/1 434 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 final-ma145 5 rs62342477
dbSNP Clinvar
7743787 3355.77 C T PASS 0/1 230 SYNONYMOUS_CODING LOW None 0.32368 0.32370 0.49854 None None None None None None ADCY2|0.904669113|3.35%
View final-ma145 5 rs2290910
dbSNP Clinvar
7802363 814.77 C T PASS 0/1 61 SYNONYMOUS_CODING LOW None 0.23343 0.23340 0.22828 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 final-ma145 5 rs3729604
dbSNP Clinvar
159344461 2178.77 G A PASS 0/1 132 SYNONYMOUS_CODING LOW None 0.20188 0.20190 0.17108 None None None None None None ADRA1B|0.287986878|28.52%

ADRB2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View final-ma145 5 rs1042713
dbSNP Clinvar
148206440 1218.77 G A PASS 0/1 106 NON_SYNONYMOUS_CODING MODERATE None 0.47564 0.47560 0.41489 0.17 0.14 None None None None None None ADRB2|0.766324239|6.71%
View final-ma145 5 rs1042714
dbSNP Clinvar
148206473 2337.77 G C PASS 0/1 188 NON_SYNONYMOUS_CODING MODERATE None 0.79573 0.79570 0.34000 0.47 0.01 None None None None None None ADRB2|0.766324239|6.71%

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 final-ma145 5 rs34400049
dbSNP Clinvar
76359024 558.77 C A PASS 0/1 41 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 final-ma145 5 rs466067
dbSNP Clinvar
35010138 6539.77 A G PASS 1/1 216 SYNONYMOUS_CODING LOW None 0.89457 0.89460 0.04198 None None None None None None AGXT2|0.105323014|50.19%
View final-ma145 5 rs180749
dbSNP Clinvar
35033605 2473.77 G A PASS 1/1 78 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 final-ma145 5 rs2279651
dbSNP Clinvar
35039437 524.77 A G PASS 0/1 50 SYNONYMOUS_CODING LOW None 0.39916 0.39920 0.46063 None None None None None None AGXT2|0.105323014|50.19%
View final-ma145 5 rs37370
dbSNP Clinvar
35039486 1695.77 C T PASS 1/1 57 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 final-ma145 5 rs2292596
dbSNP Clinvar
422955 1862.77 C G PASS 0/1 111 NON_SYNONYMOUS_CODING MODERATE None 0.30247 0.19 0.08 None None None None None None AHRR|0.004021791|87%
View final-ma145 5 rs35008248
dbSNP Clinvar
376809 1806.77 T C PASS 0/1 131 NON_SYNONYMOUS_CODING MODERATE None 0.12260 0.12260 0.11769 0.32 0.03 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 final-ma145 5 rs2287939
dbSNP Clinvar
33998883 2322.77 A G PASS 0/1 213 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 final-ma145 5 rs34677
dbSNP Clinvar
33998768 1421.77 C A PASS 0/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.11442 0.11440 0.11995 0.03 0.14 6.41 None None None None None None AMACR|0.038358163|66.34%

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 final-ma145 5 rs9332464
dbSNP Clinvar
74921686 2091.77 G A PASS 0/1 141 NON_SYNONYMOUS_CODING MODERATE None 0.32468 0.32470 1.00 0.00 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 final-ma145 5 rs17251667
dbSNP Clinvar
14769103 2694.77 G A PASS 1/1 76 SYNONYMOUS_CODING LOW None 0.12061 0.12060 0.14885 None None None None None None ANKH|0.170147079|40.3%

ANKRD33B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View final-ma145 5 rs814576
dbSNP Clinvar
10564846 1183.77 C T PASS 1/1 39 SYNONYMOUS_CODING LOW None 0.96426 0.96430 None None None None None None ANKRD33B|0.01613202|76.38%
View final-ma145 5 rs113222960
dbSNP Clinvar
10649784 110.77 G A PASS 0/1 16 SYNONYMOUS_CODING LOW None 0.26018 0.26020 -0.74 0.03 0.5582 D None None None None ANKRD33B|0.01613202|76.38%
View final-ma145 5 rs56969869
dbSNP Clinvar
10650150 496.77 A G PASS 0/1 43 SYNONYMOUS_CODING LOW None 0.30771 0.30770 0.34428 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 final-ma145 5 rs32857
dbSNP Clinvar
79855372 6409.77 A G PASS 1/1 205 NON_SYNONYMOUS_CODING MODERATE None 0.94249 0.94250 0.11141 1.00 0.00 None None None None None None ANKRD34B|0.037975306|66.46%

ANXA2R

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View final-ma145 5 rs1054428
dbSNP Clinvar
43039793 4780.77 T C PASS 1/1 143 NON_SYNONYMOUS_CODING MODERATE None 0.18351 0.18350 0.26695 0.48 0.37 None None None None None None ANXA2R|0.000047349|100%

ANXA6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View final-ma145 5 rs1133202
dbSNP Clinvar
150489390 953.77 A G PASS 0/1 105 SYNONYMOUS_CODING LOW None 0.75819 0.75820 0.21680 None None None None None None ANXA6|0.284174792|28.78%
View final-ma145 5 rs2228458
dbSNP Clinvar
150518988 2198.77 G A PASS 0/1 174 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 final-ma145 5 rs6453373
dbSNP Clinvar
77425028 2298.77 A T PASS 1/1 75 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 final-ma145 5 rs250431
dbSNP Clinvar
139940233 3638.77 G A PASS 0/1 298 SYNONYMOUS_CODING LOW None 0.63139 0.63140 0.41227 None None None None None None APBB3|0.268238369|30.01%
View final-ma145 5 rs250430
dbSNP Clinvar
139941228 6223.77 A G PASS 1/1 202 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 final-ma145 5 rs42427
dbSNP Clinvar
112176325 4181.77 G A PASS 1/1 125 SYNONYMOUS_CODING LOW None 0.66673 0.66670 0.40987 None None None None None None APC|0.952088564|2.19%
View final-ma145 5 rs2229992
dbSNP Clinvar
112162854 6667.77 T C PASS 1/1 226 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.50998 0.51000 0.46217 None None None None None None APC|0.952088564|2.19%
View final-ma145 5 rs465899
dbSNP Clinvar
112177171 4793.77 G A PASS 1/1 137 SYNONYMOUS_CODING LOW None 0.66653 0.66650 0.41309 None None None None None None APC|0.952088564|2.19%
View final-ma145 5 rs41115
dbSNP Clinvar
112175770 7566.77 G A PASS 1/1 241 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH None 0.66554 0.66550 0.41378 None None None None None None APC|0.952088564|2.19%
View final-ma145 5 rs351771
dbSNP Clinvar
112164561 1878.77 G A PASS 1/1 59 SYNONYMOUS_CODING LOW None 0.66613 0.66610 0.41357 None None None None None None APC|0.952088564|2.19%
View final-ma145 5 rs866006
dbSNP Clinvar
112176559 5430.77 T G PASS 1/1 176 SYNONYMOUS_CODING LOW None 0.66693 0.66690 0.41201 None None None None None None APC|0.952088564|2.19%
View final-ma145 5 rs459552
dbSNP Clinvar
112176756 2451.77 T A PASS 1/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.86542 0.86540 0.17374 0.00 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 final-ma145 5 rs10078759
dbSNP Clinvar
115341638 4556.77 G C PASS 1/1 142 NON_SYNONYMOUS_CODING MODERATE None 0.18292 0.02 0.59 None None None None None None None
View final-ma145 5 rs12522632
dbSNP Clinvar
115298518 4033.77 A G PASS 1/1 138 SYNONYMOUS_CODING LOW None 0.17741 None None None None None None None
View final-ma145 5 rs1445708
dbSNP Clinvar
115298977 1575.77 C T PASS 0/1 139 SYNONYMOUS_CODING LOW None 0.38918 0.38920 0.34532 None None None None None None None
View final-ma145 5 rs12520255
dbSNP Clinvar
115298475 3317.77 T C PASS 1/1 105 NON_SYNONYMOUS_CODING MODERATE None 0.77396 0.77400 0.17663 0.86 0.00 None None None None None None None
View final-ma145 5 rs10078748
dbSNP Clinvar
115341611 5538.77 G T PASS 1/1 186 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.77676 0.77680 0.18315 None None None None None None None
View final-ma145 5 rs7712021
dbSNP Clinvar
115336862 1986.77 T C PASS 0/1 166 SYNONYMOUS_CODING LOW None 0.25479 0.25480 0.33690 None None None None None None None
View final-ma145 5 rs10062297
dbSNP Clinvar
115298378 1217.77 C T PASS 1/1 41 SYNONYMOUS_CODING LOW None 0.77496 0.77500 0.16337 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 final-ma145 5 rs417503
dbSNP Clinvar
141059649 1053.77 A G PASS 0/1 107 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 final-ma145 5 rs2270068
dbSNP Clinvar
142421415 10464.77 T G PASS 1/1 340 SYNONYMOUS_CODING LOW None 0.88818 0.88820 0.00169 None None None None None None ARHGAP26|0.689373516|8.81%
View final-ma145 5 rs258819
dbSNP Clinvar
142593652 1400.77 C T PASS 1/1 39 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 final-ma145 5 rs2973568
dbSNP Clinvar
73144845 1282.77 A G PASS 0/1 123 SYNONYMOUS_CODING LOW None 0.67632 0.67630 0.32967 None None None None None None ARHGEF28|0.15892968|41.74%
View final-ma145 5 rs3749645
dbSNP Clinvar
73179672 2710.77 C T PASS 0/1 222 SYNONYMOUS_CODING LOW None 0.17332 0.17330 0.13102 None None None None None None ARHGEF28|0.15892968|41.74%
View final-ma145 5 rs7716253
dbSNP Clinvar
73090261 589.77 T C PASS 0/1 69 SYNONYMOUS_CODING LOW None 0.61342 0.61340 0.39609 None None None None None None ARHGEF28|0.15892968|41.74%
View final-ma145 5 rs1478453
dbSNP Clinvar
73207372 1754.77 T A PASS 0/1 141 NON_SYNONYMOUS_CODING MODERATE None 0.30232 0.30230 0.38488 0.30 0.00 None None None None None None ARHGEF28|0.15892968|41.74%
View final-ma145 5 rs6453022
dbSNP Clinvar
73076511 847.77 C A PASS 0/1 61 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%

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 final-ma145 5 rs9324624
dbSNP Clinvar
149006640 3588.77 C T PASS 1/1 117 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.37560 0.37560 0.47589 0.00 0.99 None None None None None None ARHGEF37|0.046932636|63.62%
View final-ma145 5 rs2400891
dbSNP Clinvar
148989122 1874.77 C T PASS 1/1 63 SYNONYMOUS_CODING LOW None 0.37720 0.37720 0.46349 None None None None None None ARHGEF37|0.046932636|63.62%
View final-ma145 5 rs1056993
dbSNP Clinvar
149008403 2704.77 A G PASS 1/1 85 SYNONYMOUS_CODING LOW None 0.67213 0.67210 0.31076 None None None None None None ARHGEF37|0.046932636|63.62%
View final-ma145 5 rs1135093
dbSNP Clinvar
149008521 960.77 A G PASS 1/1 31 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 final-ma145 5 rs2303667
dbSNP Clinvar
175792605 1065.77 G C PASS 0/1 99 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 final-ma145 5 rs6880759
dbSNP Clinvar
115394626 4072.77 G A PASS 1/1 130 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 final-ma145 5 rs35941
dbSNP Clinvar
53606295 2743.77 T C PASS 1/1 83 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 final-ma145 5 rs1065757
dbSNP Clinvar
78181477 6118.77 C T PASS 1/1 196 NON_SYNONYMOUS_CODING MODERATE None 0.28554 0.28550 0.32470 0.06 0.93 None None None None None None ARSB|0.08485524|54.24%

ARSI

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View final-ma145 5 . 149677884 2861.77 C T PASS 0/1 211 STOP_GAINED HIGH None None None None None None None ARSI|0.132727876|45.51%
View final-ma145 5 rs6579784
dbSNP Clinvar
149677851 5861.77 A G PASS 1/1 171 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 final-ma145 5 rs3734114
dbSNP Clinvar
81354389 2877.77 T C PASS 0/1 305 NON_SYNONYMOUS_CODING MODERATE None 0.19010 0.19010 0.16116 0.29 0.00 None None None None None None ATG10|0.133054505|45.45%

ATP10B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View final-ma145 5 rs958912
dbSNP Clinvar
160097496 4510.77 A G PASS 1/1 152 NON_SYNONYMOUS_CODING MODERATE None 0.86162 0.86160 0.14734 0.39 0.00 None None None None None None ATP10B|0.07854889|55.53%
View final-ma145 5 rs958911
dbSNP Clinvar
160097632 1946.77 G A PASS 1/1 59 SYNONYMOUS_CODING LOW None 0.87760 0.87760 0.11247 None None None None None None ATP10B|0.07854889|55.53%

ATP6AP1L

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 final-ma145 5 rs114714349
dbSNP Clinvar
81608561 5927.77 C T PASS 0/1 523 NON_SYNONYMOUS_CODING MODERATE None 0.00200 0.00200 0.00315 0.03 1.00 None None None None None None ATP6AP1L|0.01889113|74.72%

B4GALT7

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 final-ma145 5 rs729459
dbSNP Clinvar
177035964 7885.77 T C PASS 1/1 271 SYNONYMOUS_CODING LOW None 0.60503 0.60500 0.42519 None None None None None None B4GALT7|0.160454345|41.46%
View final-ma145 5 rs11537644
dbSNP Clinvar
177031348 1993.77 T C PASS 1/1 59 SYNONYMOUS_CODING LOW None 0.66134 0.66130 0.36735 None None None None None None B4GALT7|0.160454345|41.46%

BDP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View final-ma145 5 rs3748043
dbSNP Clinvar
70751818 1058.77 T G PASS 0/1 98 NON_SYNONYMOUS_CODING MODERATE None 0.77816 0.77820 0.23286 1.00 0.00 None None None None None None BDP1|0.020559057|73.91%
View final-ma145 5 rs6453014
dbSNP Clinvar
70837295 408.77 A C PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.82268 0.82270 0.19623 1.00 0.00 None None None None None None BDP1|0.020559057|73.91%
View final-ma145 5 rs3761966
dbSNP Clinvar
70800475 572.77 C T PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.32368 0.32370 0.28322 0.32 0.00 None None None None None None BDP1|0.020559057|73.91%
View final-ma145 5 rs277941
dbSNP Clinvar
70858194 571.77 C T PASS 0/1 33 SYNONYMOUS_CODING LOW None 0.32368 0.32370 0.28482 None None None None None None BDP1|0.020559057|73.91%
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