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Genes:
ABLIM3, AC005609.1, AC008394.1, AC026703.1, AC136604.1, AC138517.1, ACSL6, ADAM19, ADAMTS12, ADAMTS16, ADAMTS19, ADAMTS2, ADCY2, ADRB2, AFF4, AGGF1, AGXT2, AHRR, ALDH7A1, AMACR, ANKDD1B, ANKRD31, ANKRD32, ANKRD33B, ANKRD34B, ANXA2R, ANXA6, AP3B1, APBB3, APC, AQPEP, ARHGAP26, ARHGEF28, ARHGEF37, ARL10, ARL14EPL, ARL15, ARSB, ARSI, ATG10, ATP10B, BASP1, BDP1, BHMT, BHMT2, BRD8, BRD9, BTNL3, BTNL8, BTNL9, C1QTNF2, C5orf17, C5orf20, C5orf34, C5orf38, C5orf42, C5orf45, C5orf46, C5orf51, C5orf54, C5orf55, C5orf56, C5orf58, C5orf60, C5orf64, C6, C7, C9, CAMK2A, CAMK4, CAPSL, CARD6, CAST, CATSPER3, CCDC125, CCDC127, CCDC69, CCT5, CD14, CD180, CDC20B, CDC25C, CDH12, CDH18, CDH6, CDH9, CDHR2, CDK7, CDKL3, CEP120, CHD1, CHSY3, CMBL, COL23A1, COL4A3BP, COMMD10, CREBRF, CSF1R, CSF2, CTB-78H18.1, CTC-241N9.1, CTD-2215E18.1, CTD-2228K2.5, CTNNA1, CTNND2, CTXN3, CWC27, CYFIP2, DBN1, DCP2, DCTN4, DDX41, DIMT1, DMGDH, DMXL1, DNAH5, DNAJC18, DND1, DOCK2, DOK3, DRD1, DUSP1, EBF1, EGFLAM, ELL2, ENC1, EPB41L4A, EPB41L4A-AS2, ERAP1, ERBB2IP, EXOC3, F12, F2RL1, FAM114A2, FAM134B, FAM13B, FAM151B, FAM153A, FAM153B, FAM173B, FAM174A, FAM193B, FAM196B, FAM81B, FASTKD3, FAT2, FBLL1, FBN2, FBXL17, FBXL21, FBXO38, FBXW11, FCHO2, FCHSD1, FEM1C, FER, FGF18, FGFR4, FLT4, FNDC9, FNIP1, FOXI1, FSTL4, FYB, GABRA6, GABRP, GCNT4, GDF9, GEMIN5, GHR, GIN1, GM2A, GNPDA1, GPBP1, GPR151, GPR98, GPRIN1, GPX3, GPX8, GRAMD3, GRK6, GRM6, GZMA, HAPLN1, HAVCR1, HAVCR2, HEXB, HK3, HMGXB3, HMMR, HSD17B4, HSPA4, HSPA9, HTR4, IL13, IL3, IL31RA, IL6ST, IL7R, IPO11, IQGAP2, IRX1, IRX4, ISL1, ISOC1, ITGA1, ITGA2, JADE2, JMY, KCNIP1, KCNN2, KDM3B, KIAA0141, KIAA0825, KIAA0947, KIF4B, KLHL3, LARS, LCP2, LECT2, LHFPL2, LMBRD2, LOX, LPCAT1, LSM11, MAN2A1, MAP1B, MAP3K1, MARCH6, MARVELD2, MAST4, MBLAC2, MCC, MCCC2, MCIDAS, MCTP1, MEGF10, MFAP3, MGAT1, MIER3, MROH2B, MRPL22, MRPS30, MSH3, MSX2, MTRR, MXD3, MYO10, MYOT, MYOZ3, N4BP3, NAIP, NDST1, NDUFAF2, NDUFS4, NDUFS6, NIPAL4, NIPBL, NKD2, NMUR2, NNT, NOP16, NR3C1, NRG2, NSD1, NSUN2, NUDT12, NUP155, OCLN, OR2V1, OR2V2, OR2Y1, OTP, PAM, PAPD7, PARP8, PCDH1, PCDH12, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA8, PCDHA9, PCDHB1, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB15, PCDHB16, PCDHB17, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHGA1, PCDHGA2, PCDHGA3, PCDHGA7, PCDHGA8, PCDHGB2, PCDHGB3, PCDHGB4, PCSK1, PDCD6, PDE8B, PDGFRB, PDLIM4, PDLIM7, PDZD2, PELO, PITX1, PJA2, PKD2L2, PLAC8L1, PLEKHG4B, PLK2, POC5, POLK, PPIC, PPIP5K2, PRDM6, PRDM9, PRELID1, PRLR, PROB1, PROP1, PRR16, PSD2, RAD17, RANBP17, RANBP3L, RAPGEF6, RARS, RASGEF1C, RASGRF2, RGMB, RGS7BP, RICTOR, RIOK2, RMND5B, RNF130, RNF44, RP11-45H22.3, RPS14, S100Z, SCAMP1, SDHA, SEMA5A, SEMA6A, SEPT8, SETD9, SGCD, SH3PXD2B, SH3RF2, SH3TC2, SHROOM1, SIL1, SIMC1, SLC12A2, SLC12A7, SLC22A4, SLC22A5, SLC23A1, SLC25A2, SLC25A48, SLC26A2, SLC27A6, SLC34A1, SLC45A2, SLC4A9, SLC6A18, SLC6A19, SLC6A7, SLC9A3, SLCO4C1, SLCO6A1, SLIT3, SLU7, SMAD5, SNX18, SOWAHA, SPATA24, SPDL1, SPEF2, SPINK5, SPINK6, SPINK9, SPZ1, SQSTM1, SRA1, SRD5A1, SREK1IP1, SRFBP1, STK10, STK32A, SV2C, TAS2R1, TBC1D9B, TCERG1, TCOF1, TENM2, TGFBI, THBS4, THG1L, THOC3, TIGD6, TIMD4, TMCO6, TMEM161B, TMEM171, TMEM173, TNPO1, TPPP, TRIM36, TRIO, TSSK1B, TTC23L, UGT3A1, UIMC1, UNC5A, UTP15, VCAN, WDR36, WDR41, WDR55, WWC1, YTHDC2, ZCCHC9, ZDHHC11, ZDHHC11B, ZFP2, ZFP62, ZFR, ZFYVE16, ZNF131, ZNF354B, ZNF354C, ZNF366, ZNF454, ZNF608,

Genes at Omim

ACSL6, ADAMTS2, ADRB2, AFF4, ALDH7A1, AMACR, AP3B1, APC, ARHGAP26, ARSB, C5orf42, C6, C7, C9, CAST, CCT5, CEP120, COL4A3BP, CSF1R, CTNNA1, DDX41, DMGDH, DNAH5, DOCK2, F12, FAM134B, FBN2, FBXO38, FGFR4, FLT4, FOXI1, GHR, GM2A, GRM6, HAVCR1, HEXB, HMMR, HSD17B4, HSPA9, IL13, IL31RA, IL7R, ITGA2, KLHL3, LARS, MAP3K1, MARVELD2, MCC, MCCC2, MEGF10, MSH3, MSX2, MTRR, MYOT, NDST1, NDUFAF2, NDUFS4, NDUFS6, NIPAL4, NIPBL, NNT, NR3C1, NSD1, NSUN2, NUP155, OCLN, PCSK1, PDE8B, PDGFRB, PITX1, PRDM6, PRLR, PROP1, RARS, RPS14, SDHA, SGCD, SH3PXD2B, SH3TC2, SIL1, SLC22A4, SLC22A5, SLC26A2, SLC34A1, SLC45A2, SLC6A19, SLC9A3, SPINK5, SQSTM1, TCOF1, TGFBI, TMEM173, TRIO, VCAN, WDR36, WWC1,
ACSL6 Myelodysplastic syndrome (3)
Myelogenous leukemia, acute (3)
ADAMTS2 Ehlers-Danlos syndrome, type VIIC, 225410 (3)
ADRB2 Beta-2-adrenoreceptor agonist, reduced response to (3)
{Asthma, nocturnal, susceptibility to}, 600807 (3)
{Obesity, susceptibility to}, 601665 (3)
AFF4 CHOPS syndrome, 616368 (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)
Brain tumor-polyposis syndrome 2, 175100 (3)
Colorectal cancer, somatic, 114500 (3)
Desmoid disease, hereditary, 135290 (3)
Gardner syndrome, 175100 (3)
Gastric cancer, somatic, 613659 (3)
Hepatoblastoma, somatic, 114550 (3)
ARHGAP26 Leukemia, juvenile myelomonocytic, somatic, 607785 (3)
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3)
C5orf42 Joubert syndrome 17, 614615 (3)
Orofaciodigital syndrome VI, 277170 (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)
CAST Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295 (3)
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)
CEP120 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)
DDX41 {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}, 616871 (3)
DMGDH Dimethylglycine dehydrogenase deficiency, 605850 (3)
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
DOCK2 Immunodeficiency 40, 616433 (3)
F12 Angioedema, hereditary, type III, 610618 (3)
Factor XII deficiency, 234000 (3)
FAM134B Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (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)
Lymphedema, hereditary, IA, 153100 (3)
FOXI1 Enlarged vestibular aqueduct, 600791 (3)
GHR Growth hormone insensitivity, partial, 604271 (3)
Increased responsiveness to growth hormone (3)
Laron dwarfism, 262500 (3)
{Hypercholesterolemia, familial, modifier of}, 143890 (3)
GM2A GM2-gangliosidosis, AB variant, 272750 (3)
GRM6 Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 (3)
HAVCR1 {Atopy, resistance to}, 147050 (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)
ITGA2 ?Glycoprotein Ia deficiency, 614200 (1)
KLHL3 Pseudohypoaldosteronism, type IID, 614495 (3)
LARS ?Infantile liver failure syndrome 1, 615438 (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 Endometrial carcinoma, somatic, 608089 (3)
Familial adenomatous polyposis 4, 617100 (3)
MSX2 Craniosynostosis, type 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 Muscular dystrophy, limb-girdle, type 1A, 159000 (3)
Myopathy, myofibrillar, 3, 609200 (3)
Myopathy, spheroid body, 182920 (3)
NDST1 Mental retardation, autosomal recessive 46, 616116 (3)
NDUFAF2 Leigh syndrome, 256000 (3)
Mitochondrial complex I deficiency, 252010 (3)
NDUFS4 Leigh syndrome, 256000 (3)
Mitochondrial complex I deficiency, 252010 (3)
NDUFS6 Mitochondrial complex I deficiency, 252010 (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)
NR3C1 Glucocorticoid resistance, 615962 (3)
NSD1 Beckwith-Wiedemann syndrome, 130650 (3)
Leukemia, acute myeloid, 601626 (1)
Sotos syndrome 1, 117550 (3)
NSUN2 Mental retardation, autosomal recessive 5, 611091 (3)
NUP155 ?Atrial fibrillation 15, 615770 (3)
OCLN Band-like calcification with simplified gyration and polymicrogyria, 251290 (3)
PCSK1 Obesity with impaired prohormone processing, 600955 (3)
{Obesity, susceptibility to, BMIQ12}, 612362 (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)
PITX1 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800 (3)
Liebenberg syndrome, 186550 (4)
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)
RARS Leukodystrophy, hypomyelinating, 9, 616140 (3)
RPS14 Macrocytic anemia, refractory, due to 5q deletion, somatic, 153550 (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, type 2F, 601287 (3)
SH3PXD2B Frank-ter Haar syndrome, 249420 (3)
SH3TC2 Charcot-Marie-Tooth disease, type 4C, 601596 (3)
Mononeuropathy of the median nerve, mild, 613353 (3)
SIL1 Marinesco-Sjogren syndrome, 248800 (3)
SLC22A4 {Rheumatoid arthritis, susceptibility to}, 180300 (3)
SLC22A5 Carnitine deficiency, systemic primary, 212140 (3)
SLC26A2 Achondrogenesis Ib, 600972 (3)
Atelosteogenesis II, 256050 (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 Fanconi renotubular syndrome 2, 613388 (3)
Hypercalcemia, infantile, 2, 616963 (3)
Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 (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 Atopy, 147050 (3)
Netherton syndrome, 256500 (3)
SQSTM1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 (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)
TRIO Mental retardation, autosomal dominant 44, 617061 (3)
VCAN Wagner syndrome 1, 143200 (3)
WDR36 Glaucoma 1, open angle, G, 609887 (3)
WWC1 [Memory, enhanced, QTL], 615602 (3)

Genes at Clinical Genomics Database

ADAMTS2, ADRB2, AFF4, ALDH7A1, AMACR, AP3B1, APC, ARSB, C6, C7, C9, CAST, CCT5, CEP120, COL4A3BP, CSF1R, CTNNA1, DDX41, DMGDH, DNAH5, DOCK2, F12, FAM134B, FBN2, FBXO38, FLT4, FOXI1, GHR, GM2A, GRM6, HEXB, HSD17B4, HSPA9, IL31RA, IL7R, KLHL3, LARS, MAP3K1, MARVELD2, MCCC2, MEGF10, MSH3, MSX2, MTRR, MYOT, NDST1, NDUFAF2, NDUFS4, NDUFS6, NIPAL4, NIPBL, NNT, NR3C1, NSD1, NUP155, OCLN, PCSK1, PDE8B, PDGFRB, PITX1, PRLR, PROP1, RARS, SDHA, SGCD, SH3PXD2B, SH3TC2, SIL1, SLC22A5, SLC26A2, SLC34A1, SLC45A2, SLC6A19, SPINK5, SQSTM1, TCOF1, TGFBI, TMEM173, VCAN,
ADAMTS2 Ehlers-Danlos syndrome, type VII
ADRB2 Beta-2-adrenoreceptor agonist, reduced response to
AFF4 Cognitive impairment, coarse facies, Heart defects, Obesity, Pulmonary involvement, Short stature, and skeletal dysplasia (CHOPS syndrome)
ALDH7A1 Epilepsy, pyridoxine-dependent
AMACR Alpha-methylacyl-CoA racemase deficiency
Bile acid synthesis defect, congenital, 4
AP3B1 Hermansky-Pudlak syndrome 2
APC Desmoid disease, hereditary
Gardner syndrome
Familial adenomatous polyposis
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy)
C6 Complement component 6 deficiency
C7 Complement component 7 deficiency
C9 Complement component 9 deficiency
CAST Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (PLACK)
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia
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
DDX41 Familial myeloproliferative/lymphoproliferative neoplasms, multiple types, susceptibility to
DMGDH Dimethylglycine dehydrogenase deficiency
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus
DOCK2 Immunodeficiency 40
F12 Angioedema, hereditary, type III
FAM134B Neuropathy, hereditary sensory and autonomic, type IIB
FBN2 Congenital contractural arachnodactyly (Beals syndrome)
FBXO38 Neuronopathy, distal hereditary motor, type IID
FLT4 Lymphedema, hereditary I (Milory disease)
FOXI1 Pendred syndrome
Enlarged vestibular aqueduct
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
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 Parietal foramina 1
Parietal foramina with cleidocranial dysplasia
Craniosynostosis, type 2
MTRR Homocystinuria-megaloblastic anemia, cobalamin E type
MYOT Myopathy, myofibrillar, 3
NDST1 Mental retardation, autosomal recessive 46
NDUFAF2 Leigh syndrome
Mitochondrial complex I deficiency
NDUFS4 Leigh syndrome
Mitochondrial complex I deficiency
NDUFS6 Mitochondrial complex I deficiency
NIPAL4 Ichthyosis, congenital, autosomal recessive
NIPBL Cornelia de Lange syndrome 1
NNT Glucocorticoid deficiency 4
NR3C1 Glucocorticoid resistance
NSD1 Beckwith-Wiedemann syndrome
Weaver syndrome
Sotos syndrome
NUP155 Atrial fibrillation 15
OCLN Band-like calcification with simplified gyration and polymicrogyria
PCSK1 Proprotein convertase 1/3 deficiency
PDE8B Pigmented nodular adrenocortical disease, primary, 3
PDGFRB Premature aging syndrome, Penttinen type
Myofibromatosis, infantile 1
Kosaki overgrowth syndrome
Basal ganglia calcification, idiopathic, 4
PITX1 Liebenberg syndrome
Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly
PRLR Multiple fibroadenomas of the breast
Hyperprolactinemia
PROP1 Pituitary hormone deficiency, combined, 2
RARS Leukodystrophy, hypomyelinating 9
SDHA Leigh syndrome/Mitochondrial respiratory chain complex II deficiency
Cardiomyopathy, dilated, 1GG
Gastrointestinal stromal tumors
Paragangliomas 5
SGCD Muscular dystrophy, limb-girdle, type 2F
Cardiomyopathy, dilated, 1L
SH3PXD2B Frank-ter Haar syndrome
SH3TC2 Mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease, type 4C
SIL1 Marinesco-Sjogren syndrome
SLC22A5 Carnitine deficiency, systemic primary
SLC26A2 Epiphyseal dysplasia, multiple, 4
Diastrophic dysplasia
De la Chapelle dysplasia
Atelosteogenesis II
Achondrogenesis, type IB
SLC34A1 Nephrolithiasis/osteoporosis, hypophosphatemic, 1
Fanconi renotubular syndrome 2
SLC45A2 Skin/hair/eye pigmentation 5
Oculocutaneous albinism, type IV
SLC6A19 Hartnup disease
SPINK5 Netherton syndrome
SQSTM1 Paget disease of bone 3
TCOF1 Treacher Collins syndrome 1
TGFBI Corneal dystrophy, epithelial basement membrane
Corneal dystrophy, Groenouw type I
Corneal dystrophy, Thiel-Behnke type
Corneal dystrophy, Reis-Bucklers type
Corneal dystrophy, Avellino type
Corneal dystrophy of Bowman layer, type I
Corneal dystrophy, lattice type IIIA
Corneal dystrophy, lattice type I
TMEM173 STING-associated vasculopathy, infantile-onsent (SAVI)
VCAN Wagner syndrome 1

Genes at HGMD

Summary

Number of Variants: 5808
Number of Genes: 445

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 mm170241ct 5 rs13362048
dbSNP
148578636 3809.77 T C . 1/1 109 None None None 0.52756 0.52760 0.12 0.00 None None None None None None None

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 mm170241ct 5 rs11321479
dbSNP
140242451 641.73 GC G . 1/1 16 FRAME_SHIFT HIGH 0.63079 0.63080 None None None None None None None
View mm170241ct 5 rs251369
dbSNP
140242479 683.77 T A . 1/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62760 0.62760 0.84 None None None None None None None

AC008394.1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs254643
dbSNP
86513974 29.77 A G LowQual 0/1 5 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.87800 0.87800 0.00 None None None None None None None

AC026703.1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs1173756
dbSNP
32789852 3109.77 T C . 0/1 232 SYNONYMOUS_CODING LOW SILENT 0.62600 0.62600 0.40643 None None None None None None None

AC136604.1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs6882398
dbSNP
179078940 1035.77 T C . 0/1 91 SYNONYMOUS_CODING LOW SILENT 0.95248 0.95250 None None None None None None T

AC138517.1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs13153461
dbSNP
138852369 392.77 G A . 0/1 34 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.43431 0.43430 0.00 0.97 None None None None None None None

ACSL6

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs72793264
dbSNP
131323789 801.77 C T . 0/1 57 SYNONYMOUS_CODING LOW SILENT 0.00200 0.00200 0.00354 None None None None None None None
View mm170241ct 5 rs3043838
dbSNP
131324250 1440.73 C CTG . 0/1 81 None None None 0.51338 0.51340 0.37550 None None None None None None None

ADAM19

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs2287749
dbSNP
156918850 600.77 C T . 0/1 58 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05312 0.05312 0.10541 0.02 0.40 None None None None None None None
View mm170241ct 5 rs11134767
dbSNP
156908653 555.77 C T . 0/1 33 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02356 0.02356 0.04737 0.90 0.00 None None None None None None None
View mm170241ct 5 rs10067096
dbSNP
156917340 2776.77 A C . 1/1 80 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12041 0.12040 0.19660 0.30 0.17 None None None None None None None
View mm170241ct 5 rs61753548
dbSNP
156991445 254.77 G A . 0/1 29 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00180 0.00180 0.00400 0.20 0.00 None None None None None None None
View mm170241ct 5 rs1422795
dbSNP
156936364 733.77 T C . 0/1 55 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.41454 0.41450 0.42873 0.23 0.03 None None None None None None None

ADAMTS12

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs61748198
dbSNP
33624430 403.77 A G . 0/1 40 SYNONYMOUS_CODING LOW SILENT 0.16074 0.16070 0.09388 None None None None None None None
View mm170241ct 5 rs80136265
dbSNP
33891937 283.77 G A . 0/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01657 0.01657 0.02015 0.07 0.17 None None None None None None None
View mm170241ct 5 rs25754
dbSNP
33535060 297.77 G A . 0/1 26 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.59964 0.59960 0.46125 0.19 0.63 None None None None None None None
View mm170241ct 5 rs1530507
dbSNP
33751454 3455.77 A T . 1/1 105 None None None 0.55691 0.55690 None None None None None None None

ADAMTS16

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs270208
dbSNP
5140632 41.78 T C . 0/1 4 SYNONYMOUS_CODING LOW SILENT 0.62440 0.62440 0.40759 None None None None None None None
View mm170241ct 5 rs6555335
dbSNP
5200281 2673.77 C T . 1/1 80 SYNONYMOUS_CODING LOW SILENT 0.72524 0.72520 0.29491 None None None None None None None
View mm170241ct 5 rs1863968
dbSNP
5146395 785.77 A G . 0/1 50 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.48283 0.48280 0.44804 0.06 0.00 None None None None None None None
View mm170241ct 5 rs1019747
dbSNP
5146377 640.77 T C . 0/1 47 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.49441 0.49440 0.44242 0.05 0.01 None None None None None None None
View mm170241ct 5 rs2086310
dbSNP
5146335 2309.77 C G . 1/1 64 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.69549 0.69550 0.24077 1.00 0.00 None None None None None None None

ADAMTS19

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs61749629
dbSNP
128863518 631.77 A G . 0/1 65 SYNONYMOUS_CODING LOW SILENT 0.03275 0.03275 0.03245 None None None None None None None
View mm170241ct 5 rs6595908
dbSNP
128863471 1859.77 A G . 1/1 57 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99920 0.99920 0.00392 1.00 0.00 None None None None None None None

ADAMTS2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs11750821
dbSNP
178634683 143.77 C T . 0/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07189 0.07188 0.07089 0.23 0.00 None None None None None None None
View mm170241ct 5 rs2278221
dbSNP
178581859 274.77 G A . 0/1 23 SYNONYMOUS_CODING LOW SILENT 0.22844 0.22840 0.18691 None None None None None None None
View mm170241ct 5 rs1054480
dbSNP
178540975 945.77 G A . 0/1 80 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26378 0.26380 0.22174 0.71 0.01 None None None None None None None
View mm170241ct 5 rs423552
dbSNP
178634619 1672.77 C T . 1/1 51 SYNONYMOUS_CODING LOW SILENT 0.92452 0.92450 0.08473 None None None None None None None

ADCY2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs62342477
dbSNP
7743787 3609.77 C T . 1/1 103 SYNONYMOUS_CODING LOW SILENT 0.32368 0.32370 0.49854 None None None None None None None

ADRB2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs1042714
dbSNP
148206473 111.77 G C . 0/1 17 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.79573 0.79570 0.34000 0.47 0.01 None None None None None None None
View mm170241ct 5 rs1042720
dbSNP
148207633 603.77 G A . 0/1 62 SYNONYMOUS_CODING LOW SILENT 0.50879 0.50880 0.39780 None None None None None None None
View mm170241ct 5 rs1042719
dbSNP
148207447 1319.77 G C . 0/1 73 SYNONYMOUS_CODING LOW SILENT 0.37420 0.37420 0.30924 None None None None None None None
View mm170241ct 5 rs1042717
dbSNP
148206646 374.77 G A . 0/1 33 SYNONYMOUS_CODING LOW SILENT 0.31470 0.31470 0.24174 None None None None None None None
View mm170241ct 5 rs1042718
dbSNP
148206917 1062.77 C A . 0/1 65 SYNONYMOUS_CODING LOW SILENT 0.29772 0.29770 0.22151 None None None None None None None

AFF4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs739863
dbSNP
132232315 1736.77 G A . 0/1 116 SYNONYMOUS_CODING LOW SILENT 0.00040 0.10520 0.11772 None None None None None None None

AGGF1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs13155212
dbSNP
76343999 380.77 T C . 0/1 50 SYNONYMOUS_CODING LOW SILENT 0.22205 0.22200 0.24708 None None None None None None None

AGXT2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs16899974
dbSNP
34998877 4325.77 C A . 1/1 137 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.23562 0.23560 0.17723 0.29 0.01 None None None None None None None
View mm170241ct 5 rs37370
dbSNP
35039486 798.77 C T . 0/1 60 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.81050 0.81050 0.07220 0.36 0.00 None None None None None None None
View mm170241ct 5 rs37369
dbSNP
35037115 516.77 C T . 0/1 39 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39357 0.39360 0.23897 1.00 0.00 None None None None None None None
View mm170241ct 5 rs180749
dbSNP
35033605 3304.77 G A . 1/1 96 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.87500 0.87500 0.05790 0.23 0.01 None None None None None None None
View mm170241ct 5 rs466067
dbSNP
35010138 3439.77 A G . 1/1 98 SYNONYMOUS_CODING LOW SILENT 0.89457 0.89460 0.04198 None None None None None None None

AHRR

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs2292596
dbSNP
422955 384.77 C G . 0/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.30247 0.19 0.08 None None None None None None None
View mm170241ct 5 rs35008248
dbSNP
376809 219.77 T C . 0/1 28 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12260 0.12260 0.11769 0.32 0.03 None None None None None None None
View mm170241ct 5 rs2303738
dbSNP
433056 511.77 G T . 0/1 32 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03454 0.03454 0.02089 0.17 0.00 None None None None None None None

ALDH7A1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs12514417
dbSNP
125887715 346.77 T G . 0/1 21 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.09685 0.09685 0.07374 0.20 0.01 None None None None None None None

AMACR

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs34677
dbSNP
33998768 1285.77 C A . 0/1 68 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11442 0.11440 0.11995 0.03 0.14 None None None None None None D|D|D|.|.
View mm170241ct 5 rs2287939
dbSNP
33998883 1491.77 A G . 0/1 110 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.71486 0.71490 0.25135 0.33 0.01 None None None None None None None
View mm170241ct 5 rs2278008
dbSNP
33989518 2509.77 C T . 0/1 168 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.69609 0.69610 0.24089 0.95 0.00 None None None None None None None

ANKDD1B

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs9332464
dbSNP
74921686 592.77 G A . 0/1 49 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.32468 0.32470 1.00 0.00 None None None None None None None

ANKRD31

Omim - GeneCards - NCBI
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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 mm170241ct 5 rs6888707
dbSNP
74442920 5144.77 A G . 0/1 330 SYNONYMOUS_CODING LOW SILENT 0.58526 0.58530 0.48774 None None None None None None None
View mm170241ct 5 rs6893216
dbSNP
74442964 4877.77 T C . 0/1 319 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16893 0.16890 0.15506 0.12 0.00 None None None None None None None
View mm170241ct 5 rs1422698
dbSNP
74443132 4775.77 C T . 0/1 340 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.58506 0.58510 0.48795 1.00 0.00 None None None None None None None
View mm170241ct 5 rs56174528
dbSNP
74400516 2904.77 G C . 0/1 183 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.13359 0.13360 0.14696 0.12 0.06 None None None None None None None
View mm170241ct 5 rs10563854,rs796339850
dbSNP
74491715 4867.73 TTCA T . 0/1 215 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.58147 0.58150 0.49535 None None None None None None None
View mm170241ct 5 rs1422699
dbSNP
74442410 3330.77 G A . 0/1 231 SYNONYMOUS_CODING LOW SILENT 0.58506 0.58510 None None None None None None None

ANKRD32

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs6891545
dbSNP
93987532 2373.77 C A . 0/1 122 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.23482 0.23480 0.22342 1.00 0.00 None None None None None None None

ANKRD33B

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs1531839
dbSNP
10624887 1675.77 T C . 1/1 51 None None None 0.51138 0.51140 0.01 0.00 None None None None None None None
View mm170241ct 5 rs10062687
dbSNP
10624866 940.77 T G . 0/1 65 None None None 0.13459 0.13460 0.00 0.00 None None None None None None None
View mm170241ct 5 rs56969869
dbSNP
10650150 356.77 A G . 1/1 12 SYNONYMOUS_CODING LOW SILENT 0.30771 0.30770 0.34428 None None None None None None None
View mm170241ct 5 rs11745612
dbSNP
10638180 852.77 T C . 1/1 28 SYNONYMOUS_CODING LOW SILENT 0.37101 0.37100 0.43057 None None None None None None None
View mm170241ct 5 rs113222960
dbSNP
10649784 198.84 G A . 1/1 6 SYNONYMOUS_CODING LOW SILENT 0.26018 0.26020 None None None None None None T
View mm170241ct 5 rs814576
dbSNP
10564846 88.28 C T . 1/1 4 SYNONYMOUS_CODING LOW SILENT 0.96426 0.96430 None None None None None None None

ANKRD34B

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs32857
dbSNP
79855372 2699.77 A G . 1/1 81 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.94249 0.94250 0.11141 1.00 0.00 None None None None None None None

ANXA2R

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs1054428
dbSNP
43039793 571.77 T C . 0/1 46 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.18351 0.18350 0.26695 0.48 0.37 None None None None None None None

ANXA6

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 mm170241ct 5 rs1133202
dbSNP
150489390 662.77 A G . 0/1 50 SYNONYMOUS_CODING LOW SILENT 0.75819 0.75820 0.21680 None None None None None None None
View mm170241ct 5 rs2228458
dbSNP
150518988 162.77 G A . 0/1 41 SYNONYMOUS_CODING LOW SILENT 0.27756 0.27760 0.17837 None None None None None None None

AP3B1

Omim - GeneCards - NCBI
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RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs6453373
dbSNP
77425028 2655.77 A T . 1/1 76 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06720 1.00 0.00 None None None None None None None

APBB3

Omim - GeneCards - NCBI
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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 mm170241ct 5 rs250431
dbSNP
139940233 1473.77 G A . 0/1 85 SYNONYMOUS_CODING LOW SILENT 0.63139 0.63140 0.41227 None None None None None None None
View mm170241ct 5 rs250430
dbSNP
139941228 1992.77 A G . 1/1 63 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.90575 0.90580 0.11018 1.00 0.00 None None None None None None None

APC

Omim - GeneCards - NCBI
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RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs351771
dbSNP
112164561 1256.77 G A . 0/1 94 SYNONYMOUS_CODING LOW SILENT 0.66613 0.66610 0.41357 None None None None None None None
View mm170241ct 5 rs72541816
dbSNP
112179153 1973.77 C G . 0/1 134 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00180 0.00180 0.00331 0.57 None None None None None None None
View mm170241ct 5 rs465899
dbSNP
112177171 4624.77 G A . 0/1 299 SYNONYMOUS_CODING LOW SILENT 0.66653 0.66650 0.41309 None None None None None None None
View mm170241ct 5 rs459552
dbSNP
112176756 3246.77 T A . 0/1 220 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.86542 0.86540 0.17374 0.00 None None None None None None None
View mm170241ct 5 rs866006
dbSNP
112176559 2978.77 T G . 0/1 252 SYNONYMOUS_CODING LOW SILENT 0.66693 0.66690 0.41201 None None None None None None None
View mm170241ct 5 rs42427
dbSNP
112176325 2076.77 G A . 0/1 110 SYNONYMOUS_CODING LOW SILENT 0.66673 0.66670 0.40987 None None None None None None None
View mm170241ct 5 rs41115
dbSNP
112175770 2926.77 G A . 0/1 195 SYNONYMOUS_CODING LOW SILENT 0.66554 0.66550 0.41378 None None None None None None None
View mm170241ct 5 rs2229992
dbSNP
112162854 2131.77 T C . 0/1 180 SYNONYMOUS_CODING LOW SILENT 0.50998 0.51000 0.46217 None None None None None None None
View mm170241ct 5 rs770894012
dbSNP
112102058 2749.77 T C . 0/1 230 SYNONYMOUS_CODING LOW SILENT None None None None None None None

AQPEP

Omim - GeneCards - NCBI
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RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs7712021
dbSNP
115336862 2986.77 T C . 1/1 93 SYNONYMOUS_CODING LOW SILENT 0.25479 0.25480 0.33690 None None None None None None None
View mm170241ct 5 rs10078748
dbSNP
115341611 6783.77 G T . 1/1 209 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.77676 0.77680 0.18315 None None None None None None None
View mm170241ct 5 rs10078759
dbSNP
115341638 6366.77 G C . 1/1 185 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.18292 0.02 0.59 None None None None None None None
View mm170241ct 5 rs12522632
dbSNP
115298518 1642.77 A G . 1/1 58 SYNONYMOUS_CODING LOW SILENT 0.17741 None None None None None None None
View mm170241ct 5 rs10062297
dbSNP
115298378 740.77 C T . 1/1 23 SYNONYMOUS_CODING LOW SILENT 0.77496 0.77500 0.16337 None None None None None None None
View mm170241ct 5 rs12520255
dbSNP
115298475 1315.77 T C . 1/1 42 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.77396 0.77400 0.17663 0.86 0.00 None None None None None None None

ARHGAP26

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs258819
dbSNP
142593652 962.77 C T . 1/1 28 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.99641 0.99640 0.00377 None None None None None None None
View mm170241ct 5 rs2270068
dbSNP
142421415 2656.77 T G . 1/1 83 SYNONYMOUS_CODING LOW SILENT 0.88818 0.88820 0.00169 None None None None None None None

ARHGEF28

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs1478453
dbSNP
73207372 2007.77 T A . 1/1 58 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.30232 0.30230 0.38488 0.30 0.00 None None None None None None None
View mm170241ct 5 rs2973566
dbSNP
73148481 1096.77 G A . 0/1 80 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16394 0.16390 0.23058 0.01 0.95 None None None None None None None
View mm170241ct 5 rs7716253
dbSNP
73090261 2524.77 T C . 1/1 83 SYNONYMOUS_CODING LOW SILENT 0.61342 0.61340 0.39609 None None None None None None None
View mm170241ct 5 rs2973568
dbSNP
73144845 4974.77 A G . 1/1 154 SYNONYMOUS_CODING LOW SILENT 0.67632 0.67630 0.32967 None None None None None None None
View mm170241ct 5 rs2931423
dbSNP
73163831 1144.77 C T . 1/1 34 SYNONYMOUS_CODING LOW SILENT 0.22264 0.22260 0.27751 None None None None None None None
View mm170241ct 5 rs2973558
dbSNP
73163965 985.77 C A . 1/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22264 0.22260 0.27568 0.40 0.00 None None None None None None None
View mm170241ct 5 rs2973571
dbSNP
73142296 768.77 C T . 0/1 79 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.17213 0.17210 0.23821 0.36 0.00 None None None None None None None
View mm170241ct 5 rs6453022
dbSNP
73076511 1631.77 C A . 1/1 46 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.57788 0.57790 0.43045 0.67 0.00 None None None None None None None
View mm170241ct 5 rs7714670
dbSNP
73072354 1602.77 T C . 1/1 49 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.37041 0.37040 0.42150 0.37 0.00 None None None None None None None

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 mm170241ct 5 rs1056993
dbSNP
149008403 138.77 A G . 0/1 15 SYNONYMOUS_CODING LOW SILENT 0.67213 0.67210 0.31076 None None None None None None None
View mm170241ct 5 rs2400891
dbSNP
148989122 142.77 C T . 0/1 21 SYNONYMOUS_CODING LOW SILENT 0.37720 0.37720 0.46349 None None None None None None None
View mm170241ct 5 rs4629585
dbSNP
149001551 2911.77 A C . 1/1 82 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.43690 0.43690 0.36393 1.00 0.00 None None None None None None None
View mm170241ct 5 rs3733661
dbSNP
149008484 29.77 G A LowQual 0/1 8 SYNONYMOUS_CODING LOW SILENT 0.05691 0.05691 0.00418 None None None None None None None