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Genes:
A4GNT, AADAC, AADACL2, ABCC5, ABCF3, ABI3BP, AC022498.1, ACAD9, ACOX2, ACPL2, ACTL6A, ACVR2B, ADAMTS9, ADCY5, ADIPOQ, AGTR1, AHSG, ALAS1, ALCAM, ALG1L, AMOTL2, AMT, ANO10, AP2M1, APEH, ARHGAP31, ARHGEF26, ARPP21, ATG7, ATP13A4, ATP13A5, ATP2B2, ATP6V1A, ATR, ATRIP, ATXN7, B3GALNT1, B3GNT5, BCHE, BDH1, BHLHE40, BSN, BTD, BTLA, C3orf20, CACNA1D, CACNA2D3, CADPS, CAND2, CASR, CAV3, CBLB, CCDC12, CCDC14, CCDC39, CCDC66, CCDC71, CCR4, CCR8, CD86, CD96, CDC25A, CELSR3, CEP97, CHDH, CHL1, CHMP2B, CIDEC, CLASP2, CLCN2, CLDN1, CLSTN2, CNBP, CNOT10, CNTN4, COL6A5, COL7A1, CP, CPOX, CRELD1, CRYBG3, CRYGS, CSPG5, CSTA, CX3CR1, DAG1, DBR1, DCLK3, DENND6A, DHX30, DHX36, DLEC1, DNAH1, DNAJB11, DNAJB8, DNAJC13, DRD3, DVL3, DZIP1L, EBLN2, ECE2, EDEM1, EEFSEC, EFHB, EIF2B5, EIF4G1, ENTPD3, EPHA3, EPHB3, EPM2AIP1, ETV5, FAM188B2, FAM198A, FANCD2, FBLN2, FBXO40, FBXW12, FETUB, FGD5, FLNB, FRG2C, FXR1, FYCO1, GADL1, GATA2, GBE1, GFM1, GHSR, GLB1, GMPPB, GOLGB1, GPR156, GPX1, GRK7, GRM2, GRM7, HCLS1, HGD, HHATL, HLTF, HRASLS, HRG, HTR3C, HTR3D, HTR3E, HYAL2, HYAL3, IFT80, IGF2BP2, IGSF10, IL17RD, IL17RE, ILDR1, IMPG2, IP6K2, IQCB1, IQCF3, IRAK2, ITGA9, ITIH1, ITIH3, ITIH4, ITPR1, KALRN, KCNAB1, KCNMB3, KIAA0226, KIAA2018, KLHL24, KLHL40, KNG1, KPNA1, KY, LARS2, LEPREL1, LINC00696, LIPH, LMLN, LNP1, LPP, LRCH3, LRIG1, LRRC15, LRRC2, LRRIQ4, LSG1, LTF, MAP4, MASP1, MB21D2, MBNL1, MCCC1, MCF2L2, MCM2, MECOM, MFI2, MME, MON1A, MST1, MST1R, MUC13, MUC20, MUC4, MYH15, MYLK, NAALADL2, NAT6, NBEAL2, NCKIPSD, NFKBIZ, NISCH, NMD3, NR1I2, NT5DC2, NUP210, OPA1, OR5AC2, OXSR1, OXTR, P2RY12, PAK2, PARL, PARP14, PARP9, PCYT1A, PDCD6IP, PDE12, PDHB, PDZRN3, PIGZ, PIK3CA, PIK3R4, PLCD1, PLCH1, PLD1, PLS1, PLXNA1, PLXNB1, PLXND1, POGLUT1, POLQ, POMGNT2, POPDC2, PPARG, PPM1M, PPP4R2, PRICKLE2, PRKCD, PRKCI, PROS1, PRR23C, PRRT3, PRSS45, PSMD6, PTH1R, PTPLB, PTPN23, PYDC2, QRICH1, RAB7A, RABL3, RAD54L2, RASSF1, RBM6, RFT1, RFTN1, RNF123, RNF168, ROBO1, RP11-159G9.5, RP11-3B7.1, RP11-434D12.1, RPL14, RPL24, RPUSD3, RTP4, RYBP, RYK, SACM1L, SATB1, SCAP, SCN10A, SCN11A, SCN5A, SEMA3G, SEMA5B, SERPINI2, SETD2, SHISA5, SI, SLC22A14, SLC25A38, SLC26A6, SLC2A2, SLC35G2, SLC4A7, SLC6A1, SLC6A11, SLC6A20, SLC6A6, SLC9A9, SLCO2A1, SRGAP3, SSUH2, STAB1, SUCLG2, SUSD5, TDGF1, TEX264, TF, TFRC, THOC7, THRB, TKT, TLR9, TM4SF19, TMCC1, TMEM108, TMPRSS7, TNFSF10, TNIK, TOP2B, TOPBP1, TPRA1, TRAIP, TRAK1, TRANK1, TREX1, TRH, TRIM42, TTC21A, TTLL3, TXNRD3, U2SURP, UBA7, UBP1, UROC1, USP13, VGLL3, VILL, VPS8, WDR49, WDR52, XIRP1, XPC, XRN1, YEATS2, ZBBX, ZBED2, ZBTB38, ZDHHC19, ZFYVE20, ZIC4, ZNF148, ZNF385D, ZNF445, ZNF619, ZNF639, ZNF717, ZXDC,

Genes at Omim

ACAD9, ACOX2, ACVR2B, ADCY5, ADIPOQ, AGTR1, AHSG, AMT, ANO10, ARHGAP31, ATP2B2, ATP6V1A, ATR, ATXN7, BCHE, BTD, CACNA1D, CASR, CAV3, CCDC39, CD96, CHMP2B, CIDEC, CLCN2, CLDN1, CNBP, COL7A1, CP, CPOX, CRELD1, CRYGS, CSTA, CX3CR1, DAG1, DHX30, DNAH1, DNAJB11, DRD3, DVL3, DZIP1L, EIF2B5, EIF4G1, FANCD2, FLNB, FYCO1, GATA2, GBE1, GFM1, GHSR, GLB1, GMPPB, GPX1, HGD, HRG, IFT80, IGF2BP2, IL17RD, ILDR1, IMPG2, IQCB1, ITIH4, ITPR1, KALRN, KLHL24, KLHL40, KNG1, KY, LARS2, LIPH, LPP, MASP1, MCCC1, MCM2, MECOM, MME, MST1R, MYLK, NBEAL2, OPA1, P2RY12, PCYT1A, PDHB, PIK3CA, PLCD1, PLD1, POGLUT1, POMGNT2, PPARG, PRKCD, PROS1, QRICH1, RFT1, RNF168, SCN10A, SCN11A, SCN5A, SETD2, SI, SLC25A38, SLC2A2, SLC6A1, SLC6A20, SLC9A9, SLCO2A1, TDGF1, TF, TFRC, THRB, TKT, TNIK, TRAIP, TRAK1, TREX1, TRH, UROC1, XPC, ZNF148,
ACAD9 Mitochondrial complex I deficiency, nuclear type 20, 611126 (3)
ACOX2 Bile acid synthesis defect, congenital, 6, 617308 (3)
ACVR2B Heterotaxy, visceral, 4, autosomal, 613751 (3)
ADCY5 Dyskinesia, familial, with facial myokymia, 606703 (3)
ADIPOQ Adiponectin deficiency, 612556 (3)
AGTR1 {Hypertension, essential}, 145500 (3)
Renal tubular dysgenesis, 267430 (3)
AHSG ?Alopecia-mental retardation syndrome 1, 203650 (3)
AMT Glycine encephalopathy, 605899 (3)
ANO10 Spinocerebellar ataxia, autosomal recessive 10, 613728 (3)
ARHGAP31 Adams-Oliver syndrome 1, 100300 (3)
ATP2B2 {Deafness, autosomal recessive 12, modifier of}, 601386 (3)
ATP6V1A Cutis laxa, autosomal recessive, type IID, 617403 (3)
Epileptic encephalopathy, infantile or early childhood, 3, 618012 (3)
ATR ?Cutaneous telangiectasia and cancer syndrome, familial, 614564 (3)
Seckel syndrome 1, 210600 (3)
ATXN7 Spinocerebellar ataxia 7, 164500 (3)
BCHE Butyrylcholinesterase deficiency, 617936 (3)
{Apnea, postanesthetic, susceptibility to, due to BCHE deficiency}, 617936 (3)
BTD Biotinidase deficiency, 253260 (3)
CACNA1D Primary aldosteronism, seizures, and neurologic abnormalities, 615474 (3)
Sinoatrial node dysfunction and deafness, 614896 (3)
CASR Hyperparathyroidism, neonatal, 239200 (3)
Hypocalcemia, autosomal dominant, 601198 (3)
Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 (3)
Hypocalciuric hypercalcemia, type I, 145980 (3)
{Epilepsy idiopathic generalized, susceptibility to, 8}, 612899 (3)
CAV3 Cardiomyopathy, familial hypertrophic, 192600 (3)
Creatine phosphokinase, elevated serum, 123320 (3)
Long QT syndrome 9, 611818 (3)
Myopathy, distal, Tateyama type, 614321 (3)
Rippling muscle disease 2, 606072 (3)
CCDC39 Ciliary dyskinesia, primary, 14, 613807 (3)
CD96 C syndrome, 211750 (3)
CHMP2B Amyotrophic lateral sclerosis 17, 614696 (3)
Dementia, familial, nonspecific, 600795 (3)
CIDEC ?Lipodystrophy, familial partial, type 5, 615238 (3)
CLCN2 Hyperaldosteronism, familial, type II, 605635 (3)
Leukoencephalopathy with ataxia, 615651 (3)
{Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 (3)
{Epilepsy, juvenile absence, susceptibility to, 2}, 607628 (3)
{Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 (3)
CLDN1 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3)
CNBP Myotonic dystrophy 2, 602668 (3)
COL7A1 EBD inversa, 226600 (3)
EBD, Bart type, 132000 (3)
EBD, localisata variant (3)
Epidermolysis bullosa dystrophica, AD, 131750 (3)
Epidermolysis bullosa dystrophica, AR, 226600 (3)
Epidermolysis bullosa pruriginosa, 604129 (3)
Epidermolysis bullosa, pretibial, 131850 (3)
Toenail dystrophy, isolated, 607523 (3)
Transient bullous of the newborn, 131705 (3)
CP Hemosiderosis, systemic, due to aceruloplasminemia, 604290 (3)
Cerebellar ataxia, 604290 (3)
[Hypoceruloplasminemia, hereditary], 604290 (3)
CPOX Harderoporphyria, 121300 (3)
Coproporphyria, 121300 (3)
CRELD1 Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217 (3)
{Atrioventricular septal defect, susceptibility to, 2}, 606217 (3)
CRYGS Cataract 20, multiple types, 116100 (3)
CSTA Peeling skin syndrome 4, 607936 (3)
CX3CR1 {Macular degeneration, age-related, 12}, 613784 (3)
{Rapid progression to AIDS from HIV1 infection}, 609423 (3)
{Coronary artery disease, resistance to}, 607339 (3)
DAG1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, 616538 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 (3)
DHX30 Neurodevelopmental disorder with severe motor impairment and absent language, 617804 (3)
DNAH1 ?Ciliary dyskinesia, primary, 37, 617577 (3)
Spermatogenic failure 18, 617576 (3)
DNAJB11 Polycystic kidney disease 6 with or without polycystic liver disease, 618061 (3)
DRD3 {Essential tremor, hereditary, 1}, 190300 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
DVL3 Robinow syndrome, autosomal dominant 3, 616894 (3)
DZIP1L Polycystic kidney disease 5, 617610 (3)
EIF2B5 Leukoencephalopathy with vanishing white matter, 603896 (3)
Ovarioleukodystrophy, 603896 (3)
EIF4G1 {Parkinson disease 18}, 614251 (3)
FANCD2 Fanconi anemia, complementation group D2, 227646 (3)
FLNB Atelosteogenesis, type I, 108720 (3)
Atelosteogenesis, type III, 108721 (3)
Boomerang dysplasia, 112310 (3)
Larsen syndrome, 150250 (3)
Spondylocarpotarsal synostosis syndrome, 272460 (3)
FYCO1 Cataract 18, autosomal recessive, 610019 (3)
GATA2 {Leukemia, acute myeloid, susceptibility to}, 601626 (3)
{Myelodysplastic syndrome, susceptibility to}, 614286 (3)
Immunodeficiency 21, 614172 (3)
Emberger syndrome, 614038 (3)
GBE1 Glycogen storage disease IV, 232500 (3)
Polyglucosan body disease, adult form, 263570 (3)
GFM1 Combined oxidative phosphorylation deficiency 1, 609060 (3)
GHSR Growth hormone deficiency, isolated partial, 615925 (3)
GLB1 GM1-gangliosidosis, type I, 230500 (3)
GM1-gangliosidosis, type II, 230600 (3)
GM1-gangliosidosis, type III, 230650 (3)
Mucopolysaccharidosis type IVB (Morquio), 253010 (3)
GMPPB Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 (3)
GPX1 Hemolytic anemia due to glutathione peroxidase deficiency, 614164 (1)
HGD Alkaptonuria, 203500 (3)
HRG Thrombophilia due to HRG deficiency, 613116 (3)
Thrombophilia due to elevated HRG, 613116 (1)
IFT80 Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 (3)
IGF2BP2 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)
IL17RD Hypogonadotropic hypogonadism 18 with or without anosmia, 615267 (3)
ILDR1 Deafness, autosomal recessive 42, 609646 (3)
IMPG2 Macular dystrophy, vitelliform, 5, 616152 (3)
Retinitis pigmentosa 56, 613581 (3)
IQCB1 Senior-Loken syndrome 5, 609254 (3)
ITIH4 {Hypercholesterolemia, susceptibility to}, 143890 (3)
ITPR1 Gillespie syndrome, 206700 (3)
Spinocerebellar ataxia 15, 606658 (3)
Spinocerebellar ataxia 29, congenital nonprogressive, 117360 (3)
KALRN {Coronary heart disease, susceptibility to, 5}, 608901 (3)
KLHL24 Epidermolysis bullosa simplex, generalized, with scarring and hair loss, 617294 (3)
KLHL40 Nemaline myopathy 8, autosomal recessive, 615348 (3)
KNG1 [High molecular weight kininogen deficiency], 228960 (3)
[Kininogen deficiency], 228960 (3)
KY Myopathy, myofibrillar, 7, 617114 (3)
LARS2 ?Hydrops, lactic acidosis, and sideroblastic anemia, 617021 (3)
Perrault syndrome 4, 615300 (3)
LIPH Hypotrichosis 7, 604379 (3)
Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379 (3)
LPP Leukemia, acute myeloid, 601626 (3)
Lipoma (3)
MASP1 3MC syndrome 1, 257920 (3)
MCCC1 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3)
MCM2 ?Deafness, autosomal dominant 70, 616968 (3)
MECOM Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738 (3)
MME Charcot-Marie-Tooth disease, axonal, type 2T, 617017 (3)
?Spinocerebellar ataxia 43, 617018 (3)
MST1R {Nasopharyngeal carcinoma, susceptibility to, 3}, 617075 (3)
MYLK Aortic aneurysm, familial thoracic 7, 613780 (3)
NBEAL2 Gray platelet syndrome, 139090 (3)
OPA1 {Glaucoma, normal tension, susceptibility to}, 606657 (3)
Behr syndrome, 210000 (3)
Optic atrophy 1, 165500 (3)
Optic atrophy plus syndrome, 125250 (3)
?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896 (3)
P2RY12 Bleeding disorder, platelet-type, 8, 609821 (3)
PCYT1A Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3)
PDHB Pyruvate dehydrogenase E1-beta deficiency, 614111 (3)
PIK3CA CLAPO syndrome, somatic, 613089 (3)
CLOVE syndrome, somatic, 612918 (3)
Gastric cancer, somatic, 613659 (3)
Breast cancer, somatic, 114480 (3)
Hepatocellular carcinoma, somatic, 114550 (3)
Colorectal cancer, somatic, 114500 (3)
Cowden syndrome 5, 615108 (3)
Keratosis, seborrheic, somatic, 182000 (3)
Macrodactyly, somatic, 155500 (3)
Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501 (3)
Nevus, epidermal, somatic, 162900 (3)
Nonsmall cell lung cancer, somatic, 211980 (3)
Ovarian cancer, somatic, 167000 (3)
PLCD1 Nail disorder, nonsyndromic congenital, 3, (leukonychia), 151600 (3)
PLD1 Cardiac valvular defect, developmental, 212093 (3)
POGLUT1 Dowling-Degos disease 4, 615696 (3)
?Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232 (3)
POMGNT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, 618135 (3)
PPARG Carotid intimal medial thickness 1, 609338 (3)
Lipodystrophy, familial partial, type 3, 604367 (3)
Insulin resistance, severe, digenic, 604367 (3)
Obesity, severe, 601665 (3)
[Obesity, resistance to] (3)
{Diabetes, type 2}, 125853 (3)
PRKCD Autoimmune lymphoproliferative syndrome, type III, 615559 (3)
PROS1 Thrombophilia due to protein S deficiency, autosomal dominant, 612336 (3)
Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3)
QRICH1 Ververi-Brady syndrome, 617982 (3)
RFT1 Congenital disorder of glycosylation, type In, 612015 (3)
RNF168 RIDDLE syndrome, 611943 (3)
SCN10A Episodic pain syndrome, familial, 2, 615551 (3)
SCN11A Episodic pain syndrome, familial, 3, 615552 (3)
Neuropathy, hereditary sensory and autonomic, type VII, 615548 (3)
SCN5A Atrial fibrillation, familial, 10, 614022 (3)
Brugada syndrome 1, 601144 (3)
Cardiomyopathy, dilated, 1E, 601154 (3)
Heart block, nonprogressive, 113900 (3)
Heart block, progressive, type IA, 113900 (3)
Long QT syndrome-3, 603830 (3)
{Sudden infant death syndrome, susceptibility to}, 272120 (3)
Sick sinus syndrome 1, 608567 (3)
Ventricular fibrillation, familial, 1, 603829 (3)
SETD2 Luscan-Lumish syndrome, 616831 (3)
SI Sucrase-isomaltase deficiency, congenital, 222900 (3)
SLC25A38 Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 (3)
SLC2A2 Fanconi-Bickel syndrome, 227810 (3)
{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
SLC6A1 Myoclonic-atonic epilepsy, 616421 (3)
SLC6A20 Hyperglycinuria, 138500 (3)
Iminoglycinuria, digenic, 242600 (3)
SLC9A9 {?Autism susceptibility 16}, 613410 (3)
SLCO2A1 Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 (3)
TDGF1 Forebrain defects (3)
TF Atransferrinemia, 209300 (3)
TFRC Immunodeficiency 46, 616740 (3)
THRB Thyroid hormone resistance, 188570 (3)
Thyroid hormone resistance, autosomal recessive, 274300 (3)
Thyroid hormone resistance, selective pituitary, 145650 (3)
TKT Short stature, developmental delay, and congenital heart defects, 617044 (3)
TNIK Mental retardation, autosomal recessive 54, 617028 (3)
TRAIP Seckel syndrome 9, 616777 (3)
TRAK1 Epileptic encephalopathy, early infantile, 68, 618201 (3)
TREX1 Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3)
Chilblain lupus, 610448 (3)
{Systemic lupus erythematosus, susceptibility to}, 152700 (3)
Vasculopathy, retinal, with cerebral leukodystrophy, 192315 (3)
TRH Thyrotropin-releasing hormone deficiency, 275120 (1)
UROC1 ?Urocanase deficiency, 276880 (3)
XPC Xeroderma pigmentosum, group C, 278720 (3)
ZNF148 Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260 (3)

Genes at Clinical Genomics Database

ACAD9, ACVR2B, ADCY5, AGTR1, AMT, ANO10, ARHGAP31, ATR, ATXN7, B3GALNT1, BCHE, BTD, CACNA1D, CASR, CAV3, CCDC14, CCDC39, CD96, CHMP2B, CIDEC, CLCN2, CLDN1, CNBP, COL7A1, CP, CPOX, CRELD1, CRYGS, CSTA, DAG1, DNAH1, DNAJC13, DVL3, EIF2B5, EIF4G1, FANCD2, FLNB, FYCO1, GATA2, GBE1, GFM1, GHSR, GLB1, GMPPB, HGD, HRG, IFT80, IL17RD, ILDR1, IMPG2, IQCB1, ITPR1, KLHL40, KNG1, LARS2, LIPH, MASP1, MCCC1, MECOM, MYLK, NBEAL2, OPA1, P2RY12, PCYT1A, PDHB, PIK3CA, PLCD1, POGLUT1, POMGNT2, PPARG, PRICKLE2, PRKCD, PROS1, PTH1R, RAB7A, RFT1, RNF168, SCN11A, SCN5A, SETD2, SI, SLC25A38, SLC2A2, SLC6A20, SLC9A9, SLCO2A1, TDGF1, TF, TFRC, THRB, TRAIP, TREX1, UROC1, XPC,
ACAD9 Acyl-CoA dehydrogenase family, member 9, deficiency of
ACVR2B Heterotaxy, visceral, 4, autosomal
ADCY5 Dyskinesia, familial, with facial myokymia
AGTR1 Renal tubular dysgenesis
AMT Glycine encephalopathy
ANO10 Spinocerebellar ataxia, autosomal recessive 10
ARHGAP31 Adams-Oliver syndrome 1
ATR Cutaneous telangiectasia and cancer syndrome, familial
Seckel syndrome 1
ATXN7 Spinocerebellar ataxia 7
B3GALNT1 Blood group, P system
BCHE Butyrlcholinesterase deficiency
BTD Biotinidase deficiency
CACNA1D Primary aldosteronism, seizures, and neurologic abnormalities
Sinoatrial node dysfunction and deafness
CASR Hyperparathyroidism, neonatal
Hypocalcemia, autosomal dominant
Hypocalcemia, autosomal dominant, with Bartter syndrome
Hypocalciuric hypercalcemia, type I
Hyperparathyroidism, neonatal severe primary
Hypoparathyroidism, familial isolated
Hyperparathyroidism, familial primary
CAV3 Cardiomyopathy, familial hypertrophic
Long QT syndrome 9
Creatine phosphokinase, elevated serum
CCDC14 Hypotonia, infantile, with psychomotor retardation
CCDC39 Ciliary dyskinesia, primary, 14
CD96 C syndrome( Opitz Trigonocephaly syndrome)
CHMP2B Amyotrophic lateral sclerosis, CHMP2B-related
Dementia, familial, nonspecific
Frontotemporal dementia, chromosome 3-linked
CIDEC Lipodystrophy, familial partial, type 5
CLCN2 Epilepsy, idiopathic, generalized, susceptibility to, 11
Epilepsy, juvenile, absence, suscepibility to, 2
Epilepsy, juvenile myoclonic, susceptibility to, 8
Leukoencephalopathy with ataxia
CLDN1 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
CNBP Myotonic dystrophy 2
COL7A1 Epidermolysis bullosa dystrophica, autosomal dominant
Epidermolysis bullosa dystrophica, autosomal recessive
Epidermolysis bullosa dystrophica inversia
Epidermolysis bullosa pruriginosa
Nail disorder, nonsyndromic congenital, 8
Epidermolysis bullosa dystrophica, Bart type
Epidermolysis bullosa, pretibial
Transient bullous dermolysis of the newborn
CP Aceruloplasminemia
Hypoceruloplasminemia
CPOX Coproporphyria
Harderoporphyria
CRELD1 Atrioventricular septal defect, partial, with or without heterotaxy
CRYGS Cataract, progressive polymorphic cortical
CSTA Peeling skin syndrome 4
DAG1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9
Muscular dystrophy-dystroglycanopathy, type C, 9
DNAH1 Spermatogenic failure
DNAJC13 Parkinson disease 21
DVL3 Robinow syndrome, autosomal dominant 3
EIF2B5 Leukoencephalopathy with vanishing white matter
Ovarioleukodystrophy
EIF4G1 Parkinson disease 18
Macular dystrophy with central cone involvement
FANCD2 Fanconi anemia, complementation group D2
FLNB Larsen syndrome
Spondylocarpotarsal synostosis syndrome
Boomerang dysplasia
Atelosteogenesis, type I
Atelosteogenesis, type III
FYCO1 Cataract, autosomal recessive congenital 2
GATA2 Immunodeficiency 21
Emberger syndrome
Myelodysplastic syndrome
Acute myeloid leukemia, familial
Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia
GBE1 Glycogen storage disease IV
GFM1 Combined oxidative phosphorylation deficiency 1
GHSR Short stature
GLB1 Mucopolysaccharidosis type IVB (Morquio syndrome B)
GM1-gangliosidosis, type I
GM1-gangliosidosis, type II
GM1-gangliosidosis, type III
GMPPB Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14
Limb-girdle muscular dystrophy-dystroglycanopathy, type B, 14
Limb-girdle muscular dystrophy-dystroglycanopathy, type C, 14
HGD Alkaptonuria
HRG Thrombophilia due to histidine-rich glycoprotein deficiency
IFT80 Short-rib thoracic dysplasia 2 with or without polydactyly
IL17RD Hypogonadotropic hypogonadism 18, with or without anosmia
ILDR1 Deafness, autosomal recessive 42
IMPG2 Retinitis pigmentosa 56
IQCB1 Senior-Loken syndrome 5
ITPR1 Spinocerebellar ataxia 15
Spinocerebellar ataxia 29
KLHL40 Nemaline myopathy 8
KNG1 High molecular weight kininogen deficiency
LARS2 Perrault syndrome 4
LIPH Hypotrichosis 7
MASP1 3MC syndrome 1
MCCC1 3-Methylcrotonyl-CoA carboxylase 1 deficiency
MECOM Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
MYLK Aortic aneurysm, familial thoracic 7
NBEAL2 Gray platelet syndrome
OPA1 Glaucoma, normal tension, susceptibility to
P2RY12 Bleeding disorder, platelet-type, 8
PCYT1A Spondylometaphyseal dysplasia with cone-rod dystrophy
PDHB Pyruvate dehydrogensae E1-beta deficiency
PIK3CA Cowden syndrome 5
PLCD1 Nail disorder, nonsyndromic congenital, 3
POGLUT1 Dowling-Degos disease 4
POMGNT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8
PPARG Lipodystrophy, familial, partial, type 3
Insulin resistance, severe, digenic
PRICKLE2 Epilepsy, progessive myoclonic 5
PRKCD Autoimmune lymphoproliferative syndrome type III
PROS1 Thrombophilia, hereditary, due to protein S deficiency
PTH1R Eiken syndrome
Chondrodysplasia, Blomstrand type
Metaphyseal chondrodysplasia, Murk Jansen type
Failure of tooth eruption, primary
RAB7A Charcot-Marie-Tooth disease, axonal, type 2B
RFT1 Congenital disorder of glycosylation, type In
RNF168 RIDDLE syndrome
SCN11A Episodic pain syndrome, familial, 3
Neuropathy, hereditary sensory and autonomic, type VI
SCN5A Atrial fibrillation, familial 10
Long QT syndrome 3
Idiopathic ventricular fibrillation
Heart block, progressive, type IA
Heart block, nonprogressive
Sick sinus syndrome 1, autosomal recessive
Cardiomyopathy, dilated, 1E
Brugada syndrome 1
Ventricular fibrillation, familial 1
SETD2 Luscan-Lumish syndrome
SI Sucrase-isomaltase deficiency, congenital
SLC25A38 Anemia, sideroblastic 2, pyridoxine-refractory
SLC2A2 Fanconi-Bickel syndrome
Glycogen storage disease XI
Neonatal diabetes mellitus
SLC6A20 Iminoglycinuria, digenic
Hyperglycinuria/Iminoglycinuria, modifier of
SLC9A9 Autism susceptibility 16
SLCO2A1 Hypertrophic osteoarthropathy, primary, autosomal recessive 2
Primary hypertrophic osteoarthropathy
TDGF1 Forebrain anomalies
Congenital cardiac malformations
TF Atransferrinemia
TFRC Immunodeficiency 46
THRB Thyroid hormone resistance, general
Thyroid hormone resistance, selective pituitary
TRAIP Seckel syndrome 9
TREX1 Chilblain lupus 1
Vasculopathy, retinal, with cerebral leukodystrophy
Aicardi-Goutieres syndrome 1
UROC1 Urocanase deficiency
XPC Xeroderma pigmentosum, group C

Genes at HGMD

Summary

Number of Variants: 1419
Number of Genes: 360

Export to: CSV

A4GNT

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 3 rs2724691
dbSNP Clinvar
137850003 3212.93 A G PASS 1/1 109 SYNONYMOUS_CODING LOW None 0.61402 0.61400 0.35399 None None None None None None A4GNT|0.020635171|73.87%
View 16hpc01701_s1 genome 3 rs2170309
dbSNP Clinvar
137843106 2208.06 T C PASS 1/1 78 SYNONYMOUS_STOP LOW None 0.65415 0.65420 0.33931 None None None None None None A4GNT|0.020635171|73.87%
View 16hpc01701_s1 genome 3 rs2246945
dbSNP Clinvar
137843476 3844.43 G T PASS 1/1 139 NON_SYNONYMOUS_CODING MODERATE None 0.65375 0.65380 0.33946 0.93 0.00 None None None None None None A4GNT|0.020635171|73.87%

AADAC

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 16hpc01701_s1 genome 3 rs1803155
dbSNP Clinvar
151545601 308.47 G A PASS 0/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.73443 0.73440 0.22189 0.04 0.16 None None None None None None AADAC|0.00221398|90.39%

AADACL2

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 3 rs1972977
dbSNP Clinvar
151463421 2085.12 G T PASS 1/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.70667 0.70670 0.30183 1.00 0.00 None None None None None None AADACL2|0.001976057|91.06%

ABCC5

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 16hpc01701_s1 genome 3 . 183645149 9.8 C A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None ABCC5|0.264803016|30.31%

ABCF3

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 16hpc01701_s1 genome 3 . 183908987 9.8 C A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.23 0.00 None None None None None None EIF2B5|0.736636231|7.47%,ABCF3|0.210006842|35.58%

ABI3BP

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 3 rs2245370
dbSNP Clinvar
100617680 2934.88 C T PASS 1/1 98 SYNONYMOUS_CODING LOW None 0.72804 0.72800 0.43846 None None None None None None ABI3BP|0.072954425|56.79%

AC022498.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 3 . 187897340 9.8 C A LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None None None None None None None LPP|0.866185415|4.34%

ACAD9

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 3 rs1680778
dbSNP Clinvar
128614185 2470.22 A C PASS 0/1 199 SYNONYMOUS_CODING LOW None 0.54333 0.54330 0.45025 None None None None None None ACAD9|0.037542625|66.62%

ACOX2

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 16hpc01701_s1 genome 3 . 58503116 9.8 G T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.39 0.00 None None None None None None ACOX2|0.021941785|73.2%

ACPL2

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 16hpc01701_s1 genome 3 . 140979095 4.97 C A LowGQX;SB 0/1 2 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.11 0.00 None None None None None None PXYLP1|0.09254292|52.7%

ACTL6A

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 16hpc01701_s1 genome 3 . 179301149 3.16 T C LowGQX;LowQD;SB 0/1 4 SYNONYMOUS_CODING LOW None None None None None None None ACTL6A|0.89447236|3.58%

ACVR2B

Omim - GeneCards - NCBI
Options Individual Chr
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 16hpc01701_s1 genome 3 rs1046048
dbSNP Clinvar
38524742 3010.15 C T PASS 1/1 119 SYNONYMOUS_CODING LOW None 0.35324 0.35320 0.43857 None None None None None None ACVR2B|0.559847657|13.37%
View 16hpc01701_s1 genome 3 rs2070489
dbSNP Clinvar
38519424 1662.66 A G PASS 1/1 59 SYNONYMOUS_CODING LOW None 0.48043 0.48040 0.47724 None None None None None None ACVR2B|0.559847657|13.37%
View 16hpc01701_s1 genome 3 . 38495814 9.3 A G LowGQX 0/1 3 START_LOST HIGH None 0.18 0.01 None None None None None None ACVR2B|0.559847657|13.37%

ADAMTS9

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 16hpc01701_s1 genome 3 . 64633686 9.8 T A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.02 None None None None None None ADAMTS9|0.249096385|31.58%

ADCY5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 3 rs4678027
dbSNP Clinvar
123167249 351.47 G A PASS 1/1 18 SYNONYMOUS_CODING LOW None 0.98662 0.98660 0.00873 None None None None None None ADCY5|0.611756901|11.41%

ADIPOQ

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 3 rs2241766
dbSNP Clinvar
186570892 1297.08 T G PASS 0/1 105 SYNONYMOUS_CODING LOW None 0.15136 0.15140 0.09250 None None None None None None ADIPOQ|0.239416973|32.49%

AGTR1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 3 rs143432118
dbSNP Clinvar
148459830 951.43 G A PASS 0/1 70 SYNONYMOUS_CODING LOW None 0.00031 None None None None None None AGTR1|0.849419529|4.65%

AHSG

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 16hpc01701_s1 genome 3 rs4917
dbSNP Clinvar
186337713 2492.05 T C PASS 1/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.73542 0.73540 0.31493 1.00 0.00 None None None None None None AHSG|0.045377146|64.1%
View 16hpc01701_s1 genome 3 rs1071592
dbSNP Clinvar
186338425 5048.14 A C PASS 1/1 170 SYNONYMOUS_CODING LOW None 0.81470 0.81470 0.22044 None None None None None None AHSG|0.045377146|64.1%
View 16hpc01701_s1 genome 3 rs4918
dbSNP Clinvar
186338382 3472.31 G C PASS 1/1 113 NON_SYNONYMOUS_CODING MODERATE None 0.71366 0.71370 0.34261 0.36 0.00 None None None None None None AHSG|0.045377146|64.1%

ALAS1

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 16hpc01701_s1 genome 3 . 52236641 4.97 C A LowGQX;SB 0/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.12 0.83 None None None None None None ALAS1|0.153297782|42.48%

ALCAM

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 3 rs599278
dbSNP Clinvar
105260596 1063.71 T C PASS 1/1 36 SYNONYMOUS_CODING LOW None 0.96086 0.96090 0.03814 None None None None None None ALCAM|0.549351292|13.76%

ALG1L

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 16hpc01701_s1 genome 3 rs3828357
dbSNP Clinvar
125648356 2352.16 T C PASS 0/1 206 NON_SYNONYMOUS_CODING MODERATE None 0.27716 0.27720 0.32677 0.03 0.11 None None None None None None ALG1L|0.003997673|87.03%

AMOTL2

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 16hpc01701_s1 genome 3 . 134078136 14.92 C A LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.44 0.08 None None None None None None AMOTL2|0.079628393|55.26%

AMT

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 16hpc01701_s1 genome 3 rs11715915
dbSNP Clinvar
49455330 2160.23 C T PASS 0/1 214 SYNONYMOUS_CODING LOW None 0.20128 0.20130 0.28894 None None None None None None AMT|0.121814871|47.17%

ANO10

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 16hpc01701_s1 genome 3 rs6441771
dbSNP Clinvar
43414318 2561.49 A G PASS 1/1 86 None None None 0.98143 0.98140 0.33 0.01 None None None None None None SNRK|0.096657733|51.77%,ANO10|0.098739999|51.41%
View 16hpc01701_s1 genome 3 rs3772165
dbSNP Clinvar
43602803 798.78 C T PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.66314 0.66310 0.44310 0.54 0.00 None None None None None None ANO10|0.098739999|51.41%

AP2M1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 3 rs995047292
dbSNP Clinvar
183898506 4.97 C T LowGQ;LowGQX;LowQD;SB 0/1 3 None None None 0.02 0.00 None None None None None None EIF2B5|0.736636231|7.47%,AP2M1|0.714763661|8.13%

APEH

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 3 rs1131095
dbSNP Clinvar
49714225 9.8 T C LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None 0.20268 0.20270 0.28287 None None None None None None APEH|0.758566241|6.88%
View 16hpc01701_s1 genome 3 . 49713503 9.8 C A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None APEH|0.758566241|6.88%

ARHGAP31

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 3 rs3732413
dbSNP Clinvar
119133183 4714.05 G A PASS 0/1 346 NON_SYNONYMOUS_CODING MODERATE None 0.84565 0.84560 0.16839 1.00 0.00 None None None None None None ARHGAP31|0.196163887|37.14%
View 16hpc01701_s1 genome 3 rs61740281
dbSNP Clinvar
119133554 4193.9 G A PASS 0/1 358 SYNONYMOUS_CODING LOW None 0.12979 0.12980 0.12711 None None None None None None ARHGAP31|0.196163887|37.14%
View 16hpc01701_s1 genome 3 rs4688001
dbSNP Clinvar
119118104 2586.88 A G PASS 1/1 87 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None ARHGAP31|0.196163887|37.14%

ARHGEF26

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 16hpc01701_s1 genome 3 . 153840740 9.8 C A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.01 1.00 None None None None None None ARHGEF26|0.061409989|59.47%
View 16hpc01701_s1 genome 3 . 153847433 3.07 C A LowGQX;LowQD;SB 0/1 3 SYNONYMOUS_CODING LOW None None None None None None None ARHGEF26|0.061409989|59.47%

ARPP21

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 16hpc01701_s1 genome 3 rs2012153
dbSNP Clinvar
35779750 14.89 A G LowGQ;LowGQX 1/1 2 SYNONYMOUS_CODING LOW None 0.35883 0.35880 None None None None None None ARPP21|0.628941513|10.81%
View 16hpc01701_s1 genome 3 . 35770968 9.8 C A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.34 None None None None None None ARPP21|0.628941513|10.81%
View 16hpc01701_s1 genome 3 . 35748503 7.08 A T LowGQ;LowGQX;SB 1/1 1 STOP_GAINED HIGH None None None None None None None ARPP21|0.628941513|10.81%

ATG7

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 16hpc01701_s1 genome 3 rs8154
dbSNP Clinvar
11596302 2742.26 T C PASS 1/1 101 SYNONYMOUS_CODING LOW None 0.25459 0.25460 0.32239 None None None None None None ATG7|0.493408428|16.17%
View 16hpc01701_s1 genome 3 rs36117895
dbSNP Clinvar
11400019 3936.28 T C PASS 0/1 301 NON_SYNONYMOUS_CODING MODERATE None 0.02995 0.02995 0.04237 0.00 0.69 None None None None None None ATG7|0.493408428|16.17%

ATP13A4

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 16hpc01701_s1 genome 3 rs2130407
dbSNP Clinvar
193210768 866.07 A G PASS 0/1 69 SYNONYMOUS_CODING LOW None 0.52736 0.52740 0.47970 None None None None None None ATP13A4|0.189604914|37.86%
View 16hpc01701_s1 genome 3 rs6788448
dbSNP Clinvar
193209178 266.09 T C PASS 0/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.47145 0.47140 0.44180 0.04 0.99 None None None None None None ATP13A4|0.189604914|37.86%
View 16hpc01701_s1 genome 3 rs3796181
dbSNP Clinvar
193183817 356.94 A G PASS 0/1 36 SYNONYMOUS_CODING LOW None 0.55411 0.55410 0.48954 None None None None None None ATP13A4|0.189604914|37.86%

ATP13A5

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 16hpc01701_s1 genome 3 rs11926955
dbSNP Clinvar
193042776 1221.81 T C PASS 1/1 46 SYNONYMOUS_CODING LOW None 0.89537 0.89540 0.15178 None None None None None None ATP13A5|0.051025682|62.36%
View 16hpc01701_s1 genome 3 rs2280268
dbSNP Clinvar
193031926 9.8 C T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.53075 0.53080 0.46094 0.44 0.26 None None None None None None ATP13A5|0.051025682|62.36%
View 16hpc01701_s1 genome 3 . 193049091 14.9 T C LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.81 0.10 None None None None None None ATP13A5|0.051025682|62.36%

ATP2B2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 3 rs2289274
dbSNP Clinvar
10413715 669.62 G A PASS 0/1 68 SYNONYMOUS_CODING LOW None 0.27696 0.27700 0.25788 None None None None None None ATP2B2|0.393540983|21.16%
View 16hpc01701_s1 genome 3 rs35678
dbSNP Clinvar
10379923 1091.91 C T PASS 0/1 79 SYNONYMOUS_CODING LOW None 0.56789 0.56790 0.45633 None None None None None None ATP2B2|0.393540983|21.16%

ATP6V1A

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 16hpc01701_s1 genome 3 . 113503221 7.08 G T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None ATP6V1A|0.594298248|11.97%

ATR

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 3 rs2229032
dbSNP Clinvar
142178144 1745.63 C T PASS 0/1 150 NON_SYNONYMOUS_CODING MODERATE None 0.10224 0.10220 0.13417 0.23 0.00 None None None None None None ATR|0.696057424|8.61%
View 16hpc01701_s1 genome 3 rs2227929
dbSNP Clinvar
142277536 2737.9 A G PASS 0/1 198 SYNONYMOUS_CODING LOW None 0.31070 0.31070 0.34576 None None None None None None ATR|0.696057424|8.61%
View 16hpc01701_s1 genome 3 rs2227930
dbSNP Clinvar
142277575 6342.26 A T PASS 1/1 208 SYNONYMOUS_CODING LOW None 0.59804 0.59800 0.33700 None None None None None None ATR|0.696057424|8.61%
View 16hpc01701_s1 genome 3 rs2227928
dbSNP Clinvar
142281612 1916.05 A G PASS 1/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.59744 0.59740 0.33769 0.63 0.00 None None None None None None ATR|0.696057424|8.61%
View 16hpc01701_s1 genome 3 rs1802904
dbSNP Clinvar
142168331 2525.16 C T PASS 0/1 190 SYNONYMOUS_CODING LOW None 0.91633 0.91630 0.10218 None None None None None None ATR|0.696057424|8.61%
View 16hpc01701_s1 genome 3 rs2227931
dbSNP Clinvar
142222284 1042.09 A G PASS 0/1 63 SYNONYMOUS_CODING LOW None 0.31250 0.31250 0.34957 None None None None None None ATR|0.696057424|8.61%

ATRIP

Omim - GeneCards - NCBI
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View 16hpc01701_s1 genome 3 rs34293767
dbSNP Clinvar
48501701 9.8 C T LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None 0.00020 0.00020 0.00023 None None None None None None ATRIP|0.138780741|44.56%

ATXN7

Omim - GeneCards - NCBI
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View 16hpc01701_s1 genome 3 rs1053338
dbSNP Clinvar
63967900 1906.2 A G PASS 0/1 154 NON_SYNONYMOUS_CODING MODERATE None 0.11462 0.11460 0.09994 0.12 0.21 None None None None None None ATXN7|0.45901663|17.72%
View 16hpc01701_s1 genome 3 rs3733125
dbSNP Clinvar
63981635 573.99 C T PASS 0/1 50 SYNONYMOUS_CODING LOW None 0.09046 0.09046 0.07535 None None None None None None ATXN7|0.45901663|17.72%
View 16hpc01701_s1 genome 3 rs3774729
dbSNP Clinvar
63982082 703.03 G A SB 1/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.43770 0.43770 0.39069 1.00 0.02 None None None None None None ATXN7|0.45901663|17.72%

B3GALNT1

Omim - GeneCards - NCBI
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View 16hpc01701_s1 genome 3 rs2231256
dbSNP Clinvar
160804569 269.14 C T SB 0/1 17 None None None 0.02855 0.02855 0.03148 0.09 0.11 None None None None None None B3GALNT1|0.115257385|48.26%
View 16hpc01701_s1 genome 3 rs2231257
dbSNP Clinvar
160804167 3120.27 C T PASS 0/1 242 NON_SYNONYMOUS_CODING MODERATE None 0.05192 0.05192 0.02607 0.12 0.01 None None None None None None B3GALNT1|0.115257385|48.26%
View 16hpc01701_s1 genome 3 rs150681589
dbSNP Clinvar
160804017 2612.97 C T PASS 0/1 194 NON_SYNONYMOUS_CODING MODERATE None 0.00046 0.51 0.00 None None None None None None B3GALNT1|0.115257385|48.26%

B3GNT5

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 16hpc01701_s1 genome 3 . 182988453 9.8 T A LowGQ;LowGQX;SB 1/1 1 STOP_GAINED HIGH None None None None None None None MCF2L2|0.04761529|63.45%,B3GNT5|0.054724518|61.26%

BCHE

Omim - GeneCards - NCBI
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View 16hpc01701_s1 genome 3 rs1803274
dbSNP Clinvar
165491280 786.19 C T PASS 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.15855 0.15850 0.19766 0.13 0.02 None None None None None None BCHE|0.536654702|14.36%

BDH1

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 16hpc01701_s1 genome 3 . 197238779 9.8 A C LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.66 None None None None None None BDH1|0.126065757|46.47%

BHLHE40

Omim - GeneCards - NCBI
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View 16hpc01701_s1 genome 3 rs754267877
dbSNP Clinvar
5025260 9.8 C T LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None None None None None None None BHLHE40|0.430176201|19.13%

BSN

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 16hpc01701_s1 genome 3 . 49701031 9.8 G T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.35 None None None None None None BSN|0.190182415|37.78%
View 16hpc01701_s1 genome 3 . 49700357 3.16 A G LowGQX;LowQD;SB 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None BSN|0.190182415|37.78%
View 16hpc01701_s1 genome 3 . 49693977 14.92 C A LowGQ;LowGQX 1/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None BSN|0.190182415|37.78%
View 16hpc01701_s1 genome 3 . 49680292 3.07 G T LowGQ;LowGQX;LowQD;SB 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None BSN|0.190182415|37.78%
View 16hpc01701_s1 genome 3 . 49694816 3.07 C A LowGQX;LowQD;SB 0/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None BSN|0.190182415|37.78%
View 16hpc01701_s1 genome 3 . 49680169 9.3 C A LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None BSN|0.190182415|37.78%

BTD

Omim - GeneCards - NCBI
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View 16hpc01701_s1 genome 3 rs2019160
dbSNP Clinvar
15643043 533.03 A G SB 1/1 19 None None None 0.96805 0.96810 None None None None None None HACL1|0.127678735|46.24%,BTD|0.016571109|76.15%

BTLA

Omim - GeneCards - NCBI
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View 16hpc01701_s1 genome 3 rs2931761
dbSNP Clinvar
112190137 1618.62 G T PASS 1/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.98822 0.98820 0.00938 1.00 0.00 None None None None None None BTLA|0.003101393|88.51%
View 16hpc01701_s1 genome 3 rs9288952
dbSNP Clinvar
112185025 1921.76 G A PASS 0/1 111 NON_SYNONYMOUS_CODING MODERATE None 0.64457 0.64460 0.26634 0.69 0.00 None None None None None None BTLA|0.003101393|88.51%

C3orf20

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 16hpc01701_s1 genome 3 . 14724555 7.08 G T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.04 None None None None None None C3orf20|0.005924936|84.66%
View 16hpc01701_s1 genome 3 rs34230332
dbSNP Clinvar
14725878 9.8 A G LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.02496 0.02496 0.04882 0.12 0.02 None None None None None None C3orf20|0.005924936|84.66%
View 16hpc01701_s1 genome 3 rs17040196
dbSNP Clinvar
14745857 14.92 G A LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.37700 0.37700 0.42711 0.48 0.05 None None None None None None C3orf20|0.005924936|84.66%

CACNA1D

Omim - GeneCards - NCBI
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View 16hpc01701_s1 genome 3 rs2250736
dbSNP Clinvar
53700550 2415.92 T C PASS 0/1 228 SYNONYMOUS_CODING LOW None 0.70647 0.70650 0.35253 None None None None None None CACNA1D|0.678487804|9.14%

CACNA2D3

Omim - GeneCards - NCBI
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View 16hpc01701_s1 genome 3 rs3732748
dbSNP Clinvar
54798258 423.95 G A PASS 0/1 51 SYNONYMOUS_CODING LOW None 0.39197 0.39200 0.39659 None None None None None None CACNA2D3|0.956528589|2.05%
View 16hpc01701_s1 genome 3 rs9879885
dbSNP Clinvar
54354510 1850.42 T C PASS 1/1 72 SYNONYMOUS_CODING LOW None 0.65336 0.65340 0.28348 None None None None None None CACNA2D3|0.956528589|2.05%

CADPS

Omim - GeneCards - NCBI
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View 16hpc01701_s1 genome 3 rs755744968
dbSNP Clinvar
62535607 14.92 G T LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.07 0.00 None None None None None None CADPS|0.97149648|1.67%
View 16hpc01701_s1 genome 3 . 62631473 9.8 G T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.35 None None None None None None CADPS|0.97149648|1.67%

CAND2

Omim - GeneCards - NCBI
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View 16hpc01701_s1 genome 3 rs2305398
dbSNP Clinvar
12856856 9.8 A G LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.57648 0.57650 0.28354 1.00 0.00 None None None None None None CAND2|0.05381052|61.53%
View 16hpc01701_s1 genome 3 . 12851769 9.8 C A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.20 None None None None None None CAND2|0.05381052|61.53%

CASR

Omim - GeneCards - NCBI
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View 16hpc01701_s1 genome 3 rs2036400
dbSNP Clinvar
122003045 8338.04 G C PASS 1/1 245 SYNONYMOUS_CODING LOW None 0.97284 0.97280 0.02799 None None None None None None CASR|0.90333935|3.37%
View 16hpc01701_s1 genome 3 rs1801726
dbSNP Clinvar
122003832 6064.85 G C PASS 1/1 184 NON_SYNONYMOUS_CODING MODERATE None 0.92412 0.92410 0.08219 1.00 0.00 None None None None None None CASR|0.90333935|3.37%
View 16hpc01701_s1 genome 3 rs1801725
dbSNP Clinvar
122003757 2860.43 G T PASS 0/1 244 NON_SYNONYMOUS_CODING MODERATE None 0.09425 0.09425 0.11156 0.23 0.01 None None None None None None CASR|0.90333935|3.37%

CAV3

Omim - GeneCards - NCBI
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View 16hpc01701_s1 genome 3 rs1008642
dbSNP Clinvar
8775661 2006.08 C T PASS 1/1 75 SYNONYMOUS_CODING LOW None 0.37101 0.37100 0.34315 None None None None None None SSUH2|0.023073982|72.66%,CAV3|0.509446113|15.4%

CBLB

Omim - GeneCards - NCBI
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View 16hpc01701_s1 genome 3 rs2305037
dbSNP Clinvar
105422844 1046.21 C T PASS 1/1 32 SYNONYMOUS_CODING LOW None 0.75100 0.75100 0.26311 None None None None None None CBLB|0.559095691|13.39%

CCDC12

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 16hpc01701_s1 genome 3 . 46963781 9.8 G T LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None None None None None None None CCDC12|0.081899622|54.77%

CCDC14

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 16hpc01701_s1 genome 3 rs17310144
dbSNP Clinvar
123665902 4439.04 T G PASS 1/1 138 NON_SYNONYMOUS_CODING MODERATE None 0.29852 0.29850 0.47509 0.14 0.19 None None None None None None CCDC14|0.022373795|72.95%
View 16hpc01701_s1 genome 3 rs2700373
dbSNP Clinvar
123634046 6141.64 G A PASS 1/1 200 SYNONYMOUS_CODING LOW None 0.84245 0.84250 0.19168 None None None None None None CCDC14|0.022373795|72.95%

CCDC39

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 16hpc01701_s1 genome 3 rs11914833
dbSNP Clinvar
180334719 233.2 C T PASS 0/1 19 SYNONYMOUS_CODING LOW None 0.10264 0.10260 0.09419 None None None None None None TTC14|0.325934886|25.76%,CCDC39|0.085554052|54.04%
View 16hpc01701_s1 genome 3 rs6769457
dbSNP Clinvar
180365956 574.22 G A PASS 0/1 42 SYNONYMOUS_CODING LOW None 0.31889 0.31890 0.34692 None None None None None None CCDC39|0.085554052|54.04%
View 16hpc01701_s1 genome 3 rs2338436
dbSNP Clinvar
180366067 437.4 T C PASS 0/1 40 SYNONYMOUS_CODING LOW None 0.15635 0.15630 0.14628 None None None None None None CCDC39|0.085554052|54.04%

CCDC66

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 16hpc01701_s1 genome 3 rs200899863
dbSNP Clinvar
56653873 9.8 G T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.26 0.07 None None None None None None CCDC66|0.050930369|62.39%