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+ Genes 550

Genes:
A4GNT, AADAC, AADACL2, ABCC5, ABHD14A, ABI3BP, ABTB1, ACAA1, ACAD11, ACAP2, ACKR2, ACOX2, ACPP, ACTL6A, ACTR8, ACVR2B, ACY1, ADAMTS9, ADCY5, ADPRH, AHSG, ALAS1, ALCAM, ALG1L, ALS2CL, AMIGO3, ANKRD28, ANKUB1, ANO10, AP2M1, ARGFX, ARHGAP31, ARHGEF26, ARHGEF3, ARPP21, ATG3, ATP11B, ATP13A4, ATP13A5, ATP2B2, ATR, ATXN7, B4GALT4, BBX, BCHE, BCL6, BOC, BSN, BTD, BTLA, C3orf17, C3orf18, C3orf20, C3orf27, C3orf30, C3orf33, C3orf35, C3orf38, C3orf49, C3orf52, C3orf58, C3orf62, C3orf67, C3orf72, CACNA1D, CACNA2D3, CADPS, CAMKV, CAND2, CASR, CBLB, CCDC12, CCDC13, CCDC14, CCDC174, CCDC37, CCDC51, CCDC54, CCDC66, CCDC71, CCR1, CCR2, CCR3, CCR4, CCR8, CCRL2, CD200, CD200R1L, CD86, CD96, CDCP1, CDHR4, CELSR3, CEP19, CEP63, CEP70, CEP97, CHDH, CHL1, CHMP2B, CHRD, CHST2, CIDEC, CLCN2, CLDN1, CLEC3B, CLSTN2, CMSS1, CNBP, CNTN3, CNTN4, CNTN6, COL6A5, COL6A6, COL7A1, COLQ, COMMD2, COX17, CP, CPA3, CPN2, CPOX, CRELD1, CRTAP, CRYBG3, CSRNP1, CSTA, CTDSPL, CX3CR1, CXCR6, CYP8B1, DAG1, DALRD3, DAZL, DBR1, DCBLD2, DCP1A, DCUN1D1, DGKG, DHX30, DHX36, DLEC1, DLG1, DNAH1, DNAH12, DNAJB11, DNAJB8, DNAJC13, DRD3, DTX3L, DZIP1L, DZIP3, EAF1, EBLN2, ECE2, EDEM1, EEFSEC, EFCAB12, EFHB, EHHADH, EIF2A, EIF4G1, EOMES, EPHA6, EPHB1, EPHB3, ESYT3, EXOG, EXOSC7, FAIM, FAM194A, FAM198A, FAM208A, FAM43A, FANCD2, FBLN2, FBXO40, FBXW12, FETUB, FILIP1L, FLNB, FNDC3B, FOXL2, FRG2C, FRMD4B, FYCO1, FYTTD1, GABRR3, GALNT15, GBE1, GFM1, GHSR, GLB1, GLYCTK, GMNC, GMPPB, GNB4, GOLGB1, GOLIM4, GP5, GPR156, GPR171, GPR62, GPR87, GPX1, GRAMD1C, GRM7, GUCA1C, H1FOO, HACL1, HCLS1, HEG1, HEMK1, HGD, HHLA2, HLTF, HPS3, HRG, HTR3D, HTR3E, HYAL2, HYAL3, IFRD2, IFT122, IGSF10, IGSF11, IL17RC, IL17RD, IL17RE, IL1RAP, IL5RA, ILDR1, IMPG2, IQCB1, IQCG, IQCJ-SCHIP1, IQSEC1, IRAK2, ITGA9, ITIH3, ITIH4, ITPR1, JAGN1, KALRN, KBTBD12, KBTBD8, KCNH8, KCNMB2, KCNMB3, KIAA2018, KIF15, KLHL40, KLHL6, KPNA1, KY, LAMP3, LARS2, LEKR1, LIMD1, LINC01100, LIPH, LMOD3, LPP, LRCH3, LRIG1, LRRC15, LRRC2, LRRC31, LRRC34, LRRC3B, LRRC58, LRRIQ4, LRRN1, LSG1, LTF, LXN, LYZL4, MAATS1, MAGEF1, MAP4, MAP6D1, MASP1, MBD4, MCCC1, MCF2L2, MCM2, MED12L, MFI2, MFN1, MFSD1, MINA, MKRN2, MLF1, MOBP, MON1A, MORC1, MST1, MST1R, MUC13, MUC20, MUC4, MYH15, MYLK, MYNN, MYRIP, NAALADL2, NBEAL2, NCKIPSD, NEK10, NEK11, NFKBIZ, NISCH, NIT2, NKTR, NLGN1, NME9, NPHP3, NR1D2, NR1I2, NR2C2, NRROS, NT5DC2, NUP210, OGG1, OPA1, OR5AC2, OR5H1, OR5H14, OR5H15, OR5H2, OR5H6, OR5K2, OR5K3, OR5K4, OSBPL10, OXSR1, P2RY1, P2RY12, P2RY13, P2RY14, PARL, PARP14, PARP15, PARP3, PCBP4, PDE12, PDHB, PDIA5, PDZRN3, PHF7, PHLDB2, PIGZ, PLA1A, PLCD1, PLCH1, PLCL2, PLS1, PLSCR2, PLXNA1, PLXNB1, PLXND1, POGLUT1, POLQ, POMGNT2, POPDC2, PP2D1, PPP2R3A, PRICKLE2, PRKAR2A, PRKCD, PRKCI, PRR23A, PRRT3, PRSS42, PRSS45, PRSS46, PRSS50, PSMD6, PTH1R, PTPN23, PTPRG, PTX3, PXK, PYDC2, QARS, QRICH1, RAB5A, RAD18, RAF1, RARB, RARRES1, RBM5, RBM6, RBP1, RFC4, RFTN1, RNF123, RNF13, RNF168, ROBO2, RP11-3B7.1, RP11-433C9.2, RP11-434D12.1, RP11-553A10.1, RPL14, RPL24, RPN1, RTP1, RTP2, RTP4, RYBP, RYK, SACM1L, SAMD7, SATB1, SCAP, SCN10A, SCN11A, SCN5A, SEC22C, SEMA3F, SEMA3G, SEMA5B, SENP2, SENP5, SENP7, SERPINI2, SETD2, SETD5, SETMAR, SH3BP5, SHQ1, SI, SIDT1, SKIL, SLC12A8, SLC22A14, SLC25A26, SLC25A36, SLC25A38, SLC26A6, SLC35G2, SLC41A3, SLC4A7, SLC51A, SLC6A11, SLC6A20, SLC7A14, SLC9A9, SLC9C1, SLCO2A1, SLITRK3, SLMAP, SNX4, SPATA16, SPICE1, SPSB4, SSUH2, ST3GAL6, ST6GAL1, STAB1, STXBP5L, SUCLG2, SUCNR1, SUMF1, SUSD5, TATDN2, TBC1D5, TBCCD1, TDGF1, TF, TFG, TFRC, TGM4, THPO, THUMPD3, TKT, TLR9, TM4SF1, TM4SF19, TM4SF4, TMCC1, TMEM110-MUSTN1, TMEM158, TMEM40, TMEM44, TMF1, TMIE, TMPPE, TMPRSS7, TNFSF10, TNIK, TNK2, TOMM70A, TOPAZ1, TOPBP1, TRAIP, TRAK1, TRANK1, TREX1, TRH, TRIM42, TRIM71, TRNT1, TSC22D2, TTC21A, TTLL3, TWF2, TXNRD3, U2SURP, UBP1, ULK4, UPK1B, USP4, UTS2B, VEPH1, VGLL4, VILL, VPS8, VWA5B2, WDR48, WDR49, WDR52, WDR53, WDR6, WWTR1, XIRP1, XPC, XYLB, YEATS2, ZBBX, ZBTB38, ZBTB47, ZCWPW2, ZDHHC19, ZDHHC23, ZIC4, ZKSCAN7, ZNF148, ZNF385D, ZNF501, ZNF502, ZNF589, ZNF654, ZNF662, ZNF717, ZNF80, ZNF852, ZNF860, ZXDC,

+ Genes associated with diseases 124

Genes at Omim

ACOX2, ACVR2B, ACY1, ADCY5, AHSG, ANO10, ARHGAP31, ATP2B2, ATR, ATXN7, BCHE, BCL6, BTD, CACNA1D, CASR, CCDC174, CCR2, CD96, CEP19, CEP63, CHMP2B, CIDEC, CLCN2, CLDN1, CNBP, COL7A1, COLQ, CP, CPOX, CRELD1, CRTAP, CSTA, CX3CR1, DAG1, DAZL, DHX30, DNAH1, DNAJB11, DRD3, DZIP1L, EHHADH, EIF4G1, FANCD2, FLNB, FOXL2, FYCO1, GBE1, GFM1, GHSR, GLB1, GLYCTK, GMPPB, GNB4, GPX1, HGD, HPS3, HRG, IFT122, IL17RC, IL17RD, ILDR1, IMPG2, IQCB1, ITIH4, ITPR1, JAGN1, KALRN, KLHL40, KY, LARS2, LIPH, LMOD3, LPP, MASP1, MCCC1, MCM2, MLF1, MST1R, MYLK, NBEAL2, NPHP3, OGG1, OPA1, P2RY12, PDHB, PLCD1, POGLUT1, POMGNT2, PRKCD, QARS, QRICH1, RAF1, RARB, RNF168, ROBO2, SCN10A, SCN11A, SCN5A, SETD2, SETD5, SI, SLC25A26, SLC25A38, SLC6A20, SLC7A14, SLC9A9, SLCO2A1, SPATA16, SUMF1, TDGF1, TF, TFG, TFRC, THPO, TKT, TMIE, TNIK, TRAIP, TRAK1, TREX1, TRH, TRNT1, XPC, ZNF148,
ACOX2 Bile acid synthesis defect, congenital, 6, 617308 (3)
ACVR2B Heterotaxy, visceral, 4, autosomal, 613751 (3)
ACY1 Aminoacylase 1 deficiency, 609924 (3)
ADCY5 Dyskinesia, familial, with facial myokymia, 606703 (3)
AHSG ?Alopecia-mental retardation syndrome 1, 203650 (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)
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)
BCL6 Lymphoma, B-cell (2)
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)
CCDC174 Hypotonia, infantile, with psychomotor retardation, 616816 (3)
CCR2 {HIV infection, susceptibility/resistance to} (3)
CD96 C syndrome, 211750 (3)
CEP19 Morbid obesity and spermatogenic failure, 615703 (3)
CEP63 ?Seckel syndrome 6, 614728 (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)
COLQ Myasthenic syndrome, congenital, 5, 603034 (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)
CRTAP Osteogenesis imperfecta, type VII, 610682 (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)
DAZL {Spermatogenic failure, susceptibility to} (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)
DZIP1L Polycystic kidney disease 5, 617610 (3)
EHHADH ?Fanconi renotubular syndrome 3, 615605 (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)
FOXL2 Blepharophimosis, epicanthus inversus, and ptosis, type 1, 110100 (3)
Blepharophimosis, epicanthus inversus, and ptosis, type 2, 110100 (3)
Premature ovarian failure 3, 608996 (3)
FYCO1 Cataract 18, autosomal recessive, 610019 (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)
GLYCTK D-glyceric aciduria, 220120 (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)
GNB4 Charcot-Marie-Tooth disease, dominant intermediate F, 615185 (3)
GPX1 Hemolytic anemia due to glutathione peroxidase deficiency, 614164 (1)
HGD Alkaptonuria, 203500 (3)
HPS3 Hermansky-Pudlak syndrome 3, 614072 (3)
HRG Thrombophilia due to HRG deficiency, 613116 (3)
Thrombophilia due to elevated HRG, 613116 (1)
IFT122 Cranioectodermal dysplasia 1, 218330 (3)
IL17RC Candidiasis, familial, 9, 616445 (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)
JAGN1 Neutropenia, severe congenital, 6, autosomal recessive, 616022 (3)
KALRN {Coronary heart disease, susceptibility to, 5}, 608901 (3)
KLHL40 Nemaline myopathy 8, autosomal recessive, 615348 (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)
LMOD3 Nemaline myopathy 10, 616165 (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)
MLF1 Leukemia, acute myeloid, 601626 (1)
MST1R {Nasopharyngeal carcinoma, susceptibility to, 3}, 617075 (3)
MYLK Aortic aneurysm, familial thoracic 7, 613780 (3)
NBEAL2 Gray platelet syndrome, 139090 (3)
NPHP3 Meckel syndrome 7, 267010 (3)
Nephronophthisis 3, 604387 (3)
Renal-hepatic-pancreatic dysplasia 1, 208540 (3)
OGG1 Renal cell carcinoma, clear cell, somatic, 144700 (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)
PDHB Pyruvate dehydrogenase E1-beta deficiency, 614111 (3)
PLCD1 Nail disorder, nonsyndromic congenital, 3, (leukonychia), 151600 (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)
PRKCD Autoimmune lymphoproliferative syndrome, type III, 615559 (3)
QARS Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 (3)
QRICH1 Ververi-Brady syndrome, 617982 (3)
RAF1 Cardiomyopathy, dilated, 1NN, 615916 (3)
LEOPARD syndrome 2, 611554 (3)
Noonan syndrome 5, 611553 (3)
RARB Microphthalmia, syndromic 12, 615524 (3)
RNF168 RIDDLE syndrome, 611943 (3)
ROBO2 Vesicoureteral reflux 2, 610878 (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)
SETD5 Mental retardation, autosomal dominant 23, 615761 (3)
SI Sucrase-isomaltase deficiency, congenital, 222900 (3)
SLC25A26 Combined oxidative phosphorylation deficiency 28, 616794 (3)
SLC25A38 Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 (3)
SLC6A20 Hyperglycinuria, 138500 (3)
Iminoglycinuria, digenic, 242600 (3)
SLC7A14 Retinitis pigmentosa 68, 615725 (3)
SLC9A9 {?Autism susceptibility 16}, 613410 (3)
SLCO2A1 Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 (3)
SPATA16 ?Spermatogenic failure 6, 102530 (3)
SUMF1 Multiple sulfatase deficiency, 272200 (3)
TDGF1 Forebrain defects (3)
TF Atransferrinemia, 209300 (3)
TFG Hereditary motor and sensory neuropathy, Okinawa type, 604484 (3)
?Spastic paraplegia 57, autosomal recessive, 615658 (3)
TFRC Immunodeficiency 46, 616740 (3)
THPO Thrombocythemia 1, 187950 (3)
TKT Short stature, developmental delay, and congenital heart defects, 617044 (3)
TMIE Deafness, autosomal recessive 6, 600971 (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)
TRNT1 Retinitis pigmentosa and erythrocytic microcytosis, 616959 (3)
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 (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

ACVR2B, ACY1, ADCY5, ALS2CL, ANO10, ARHGAP31, ATR, ATXN7, BCHE, BTD, CACNA1D, CASR, CCDC14, CD96, CEP19, CEP63, CHMP2B, CIDEC, CLCN2, CLDN1, CNBP, COL7A1, COLQ, CP, CPOX, CRELD1, CRTAP, CSTA, DAG1, DNAH1, DNAJC13, EHHADH, EIF4G1, FANCD2, FLNB, FOXL2, FYCO1, GBE1, GFM1, GHSR, GLB1, GLYCTK, GMPPB, GNB4, HGD, HPS3, HRG, IFT122, IL17RC, IL17RD, ILDR1, IMPG2, IQCB1, ITPR1, JAGN1, KLHL40, LARS2, LIPH, MASP1, MCCC1, MYLK, NBEAL2, NPHP3, OPA1, P2RY12, PDHB, PLCD1, POGLUT1, POMGNT2, PRICKLE2, PRKCD, PTH1R, QARS, RAF1, RARB, RNF168, ROBO2, SCN11A, SCN5A, SETD2, SETD5, SI, SLC25A26, SLC25A38, SLC6A20, SLC7A14, SLC9A9, SLCO2A1, SPATA16, SUMF1, TDGF1, TF, TFG, TFRC, THPO, TMIE, TRAIP, TREX1, TRNT1, XPC,
ACVR2B Heterotaxy, visceral, 4, autosomal
ACY1 Aminoacylase 1 deficiency
ADCY5 Dyskinesia, familial, with facial myokymia
ALS2CL Schizophrenia
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
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
CCDC14 Hypotonia, infantile, with psychomotor retardation
CD96 C syndrome( Opitz Trigonocephaly syndrome)
CEP19 Morbid obesity and spermatogenic failure
CEP63 Seckel syndrome 6
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
COLQ Myasthenic syndrome, congenital 5
CP Aceruloplasminemia
Hypoceruloplasminemia
CPOX Coproporphyria
Harderoporphyria
CRELD1 Atrioventricular septal defect, partial, with or without heterotaxy
CRTAP Osteogenesis imperfecta, type VII
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
EHHADH Fanconi renotubular syndrome 3
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
FOXL2 Blepharophimosis, epicanthus inversus, and ptosis, type 1
Blepharophimosis, epicanthus inversus, and ptosis, type 2
Premature ovarian failure 3
FYCO1 Cataract, autosomal recessive congenital 2
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
GLYCTK D-glyceric aciduria
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
GNB4 Charcot-Marie-Tooth disease, dominant intermediate F
HGD Alkaptonuria
HPS3 Hermansky-Pudlak syndrome 3
HRG Thrombophilia due to histidine-rich glycoprotein deficiency
IFT122 Cranioectodermal dysplasia 1
Sensenbrenner syndrome
IL17RC Candiasis, familial, 9
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
JAGN1 Neutropenia, severe congenital, 6
KLHL40 Nemaline myopathy 8
LARS2 Perrault syndrome 4
LIPH Hypotrichosis 7
MASP1 3MC syndrome 1
MCCC1 3-Methylcrotonyl-CoA carboxylase 1 deficiency
MYLK Aortic aneurysm, familial thoracic 7
NBEAL2 Gray platelet syndrome
NPHP3 Nephronophthisis 3
Meckel syndrome 7
Renal-hepatic-pancreatic dysplasia
OPA1 Glaucoma, normal tension, susceptibility to
P2RY12 Bleeding disorder, platelet-type, 8
PDHB Pyruvate dehydrogensae E1-beta deficiency
PLCD1 Nail disorder, nonsyndromic congenital, 3
POGLUT1 Dowling-Degos disease 4
POMGNT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8
PRICKLE2 Epilepsy, progessive myoclonic 5
PRKCD Autoimmune lymphoproliferative syndrome type III
PTH1R Eiken syndrome
Chondrodysplasia, Blomstrand type
Metaphyseal chondrodysplasia, Murk Jansen type
Failure of tooth eruption, primary
QARS Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy
RAF1 Cardiomyopathy, dilated, 1NN
LEOPARD syndrome 2
Noonan syndrome 5
RARB Microphthalmia, syndromic 12
RNF168 RIDDLE syndrome
ROBO2 Congenital anomalies of the kidney and urinary tract
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
SETD5 Mental retardation, autosomal dominant 23
SI Sucrase-isomaltase deficiency, congenital
SLC25A26 Combined oxidative phosphorylation deficiency 28
SLC25A38 Anemia, sideroblastic 2, pyridoxine-refractory
SLC6A20 Iminoglycinuria, digenic
Hyperglycinuria/Iminoglycinuria, modifier of
SLC7A14 Retinitis pigmentosa 68
SLC9A9 Autism susceptibility 16
SLCO2A1 Hypertrophic osteoarthropathy, primary, autosomal recessive 2
Primary hypertrophic osteoarthropathy
SPATA16 Spermatogenic failure 6
SUMF1 Multiple sulfatase deficiency
TDGF1 Forebrain anomalies
Congenital cardiac malformations
TF Atransferrinemia
TFG Hereditary motor and sensory neuropathy, proximal type
Spastic paraplegia 57
TFRC Immunodeficiency 46
THPO Thrombocythemia 1
TMIE Deafness, autosomal recessive 6
TRAIP Seckel syndrome 9
TREX1 Chilblain lupus 1
Vasculopathy, retinal, with cerebral leukodystrophy
Aicardi-Goutieres syndrome 1
TRNT1 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
XPC Xeroderma pigmentosum, group C

Genes at HGMD

Summary

Number of Variants: 9383
Number of Genes: 550

Export to: CSV

A4GNT
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs2724691
dbSNP Clinvar 		137850003 819.56 A G PASS 0/1 94 SYNONYMOUS_CODING LOW None 0.61402 0.61400 0.35399 None None None None None None A4GNT|0.020635171|73.87%

AADAC
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs1803155
dbSNP Clinvar 		151545601 3404.94 G A PASS 1/1 107 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
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs1972977
dbSNP Clinvar 		151463421 3179.26 G T PASS 0/1 85 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
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs3749442
dbSNP Clinvar 		183660585 1499.4 G A PASS 0/1 153 SYNONYMOUS_CODING LOW None 0.24900 0.24900 0.17080 None None None None None None ABCC5|0.264803016|30.31%
View combined sample_49.variant13 3 rs939336
dbSNP Clinvar 		183685534 2351.09 A G PASS 1/1 84 SYNONYMOUS_CODING LOW None 0.69169 0.69170 0.37151 None None None None None None ABCC5|0.264803016|30.31%
View combined sample_49.variant13 3 rs7636910
dbSNP Clinvar 		183699516 494.71 T C PASS 0/1 25 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.33427 0.33430 0.34194 None None None None None None ABCC5|0.264803016|30.31%
View combined sample_49.variant13 3 rs1132776
dbSNP Clinvar 		183696402 2566.2 A G PASS 1/1 107 SYNONYMOUS_CODING LOW None 0.67652 0.67650 0.38006 None None None None None None ABCC5|0.264803016|30.31%

ABHD14A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs404527
dbSNP Clinvar 		52012000 1313.34 C G PASS 0/1 128 NON_SYNONYMOUS_CODING MODERATE None 0.07907 0.07907 0.08842 1.00 0.00 None None None None None None ABHD14B|0.111110398|49%,ABHD14A|0.036596128|66.94%,ABHD14A-ACY1|0.089304013|53.38%,ACY1|0.065235845|58.58%

ABI3BP
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs10936352
dbSNP Clinvar 		100473505 1861.65 C T PASS 1/1 116 SYNONYMOUS_CODING LOW None 0.29094 0.29090 0.31592 None None None None None None ABI3BP|0.072954425|56.79%
View combined sample_49.variant13 3 rs2245370
dbSNP Clinvar 		100617680 887.36 C T PASS 1/1 77 SYNONYMOUS_CODING LOW None 0.72804 0.72800 0.43846 None None None None None None ABI3BP|0.072954425|56.79%

ABTB1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs779737965
dbSNP Clinvar 		127391872 2859.66 G A PASS 0/1 335 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.99 None None None None None None ABTB1|0.075523365|56.17%

ACAA1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs61095322
dbSNP Clinvar 		38168125 737.09 A C PASS 0/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.04673 0.04673 0.05805 0.38 0.00 None None None None None None ACAA1|0.152807913|42.57%

ACAD11
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs6776576
dbSNP Clinvar 		132345648 1823.29 C A PASS 0/1 181 NON_SYNONYMOUS_CODING MODERATE None 0.06769 0.06769 0.07366 0.62 0.02 None None None None None None ACAD11|0.064924098|58.66%,NPHP3|0.172447635|40.02%
View combined sample_49.variant13 3 rs821572
dbSNP Clinvar 		132360883 4591.1 C T PASS 1/1 118 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None ACAD11|0.064924098|58.66%,NPHP3|0.172447635|40.02%

ACAP2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs6437374
dbSNP Clinvar 		195076877 374.77 C G PASS 1/1 59 None None None 0.44449 0.44450 0.03 0.00 None None None None None None ACAP2|0.547774722|13.85%

ACKR2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs2228468
dbSNP Clinvar 		42907112 1188.09 A C,T PASS 0/1 88 NON_SYNONYMOUS_CODING MODERATE None 0.00679 0.44110 0.34753 0.63 0.00 None None None None None None ACKR2|0.020748215|73.81%,KRBOX1|0.003506869|87.76%,CYP8B1|0.009872221|80.96%

ACOX2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs1127745
dbSNP Clinvar 		58512237 499.67 A G PASS 0/1 70 SYNONYMOUS_CODING LOW None 0.28315 0.28310 0.27741 None None None None None None ACOX2|0.021941785|73.2%
View combined sample_49.variant13 3 rs1127743
dbSNP Clinvar 		58512375 325.16 T C PASS 0/1 35 SYNONYMOUS_CODING LOW None 0.16334 0.16330 0.12986 None None None None None None ACOX2|0.021941785|73.2%
View combined sample_49.variant13 3 rs57216393
dbSNP Clinvar 		58517520 1044.2 A G PASS 0/1 70 SYNONYMOUS_CODING LOW None 0.07089 0.07089 0.08212 None None None None None None ACOX2|0.021941785|73.2%

ACPP
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs3181784
dbSNP Clinvar 		132075554 505.84 T C PASS 0/1 22 SYNONYMOUS_CODING LOW None 0.30351 0.30350 0.36399 None None None None None None ACPP|0.270639599|29.85%
View combined sample_49.variant13 3 rs2071505
dbSNP Clinvar 		132075707 1112.67 A G PASS 0/1 129 None None None 0.39617 0.39620 0.49946 None None None None None None ACPP|0.270639599|29.85%
View combined sample_49.variant13 3 rs2228402
dbSNP Clinvar 		132068831 1494.84 C T PASS 0/1 106 SYNONYMOUS_CODING LOW None 0.39557 0.39560 0.49969 None None None None None None ACPP|0.270639599|29.85%

ACTL6A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs1132429
dbSNP Clinvar 		179298999 2497.2 C T PASS 1/1 143 SYNONYMOUS_CODING LOW None 0.68051 0.68050 0.39751 None None None None None None ACTL6A|0.89447236|3.58%

ACTR8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs1046677
dbSNP Clinvar 		53905308 1571.92 T C PASS 0/1 95 SYNONYMOUS_CODING LOW None 0.69229 0.69230 0.48116 None None None None None None ACTR8|0.331819735|25.35%
View combined sample_49.variant13 3 rs4687757
dbSNP Clinvar 		53906513 1548.79 G A PASS 0/1 83 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.69030 0.69030 0.48293 None None None None None None ACTR8|0.331819735|25.35%
View combined sample_49.variant13 3 rs3733082
dbSNP Clinvar 		53914093 2182.72 G A PASS 0/1 134 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.10743 0.10740 0.05621 0.40 0.05 None None None None None None ACTR8|0.331819735|25.35%

ACVR2B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs2070489
dbSNP Clinvar 		38519424 5006.39 A G PASS 0/1 152 SYNONYMOUS_CODING LOW None 0.48043 0.48040 0.47724 None None None None None None ACVR2B|0.559847657|13.37%
View combined sample_49.variant13 3 rs762092222
dbSNP Clinvar 		38523816 960.23 A T PASS 0/1 86 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.01 0.12 None None None None None None ACVR2B|0.559847657|13.37%

ACY1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs34017492
dbSNP Clinvar 		52018149 4375.58 C G PASS 0/1 294 SYNONYMOUS_CODING LOW None 0.00200 0.00200 0.00354 None None None None None None ABHD14A-ACY1|0.089304013|53.38%,ACY1|0.065235845|58.58%
View combined sample_49.variant13 3 rs6804746
dbSNP Clinvar 		52023041 1721.33 C T PASS 0/1 138 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.00060 0.00215 0.06 0.97 None None None None None None ABHD14A-ACY1|0.089304013|53.38%,ACY1|0.065235845|58.58%

ADAMTS9
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs36115950
dbSNP Clinvar 		64672474 1348.53 A T PASS 0/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.00120 0.00120 0.09972 0.43 0.01 None None None None None None ADAMTS9|0.249096385|31.58%

ADCY5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs4678027
dbSNP Clinvar 		123167249 1397.05 G A PASS 1/1 51 SYNONYMOUS_CODING LOW None 0.98662 0.98660 0.00873 None None None None None None ADCY5|0.611756901|11.41%

ADPRH
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs20568
dbSNP Clinvar 		119301139 2592.76 C T PASS 0/1 140 SYNONYMOUS_CODING LOW None 0.14637 0.14640 0.07297 None None None None None None ADPRH|0.089216076|53.4%
View combined sample_49.variant13 3 rs25676
dbSNP Clinvar 		119305379 1236.53 T A PASS 0/1 99 SYNONYMOUS_CODING LOW None 0.41234 0.41230 0.32962 None None None None None None ADPRH|0.089216076|53.4%

AHSG
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs4917
dbSNP Clinvar 		186337713 5857.53 T C PASS 0/1 167 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 combined sample_49.variant13 3 rs1071592
dbSNP Clinvar 		186338425 2830.27 A C PASS 0/1 107 SYNONYMOUS_CODING LOW None 0.81470 0.81470 0.22044 None None None None None None AHSG|0.045377146|64.1%
View combined sample_49.variant13 3 rs4918
dbSNP Clinvar 		186338382 1793.52 G C PASS 0/1 63 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
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs352168
dbSNP Clinvar 		52237970 998.86 C T PASS 1/1 90 SYNONYMOUS_CODING LOW None 0.39836 0.39840 0.47263 None None None None None None ALAS1|0.153297782|42.48%

ALCAM
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs599278
dbSNP Clinvar 		105260596 2374.44 T C PASS 1/1 88 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
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs3828357
dbSNP Clinvar 		125648356 66.22 T C PASS 1/1 8 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%

ALS2CL
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs7625303
dbSNP Clinvar 		46713457 1456.96 C G PASS 0/1 124 SYNONYMOUS_CODING LOW None 0.25040 0.25040 0.19768 None None None None None None ALS2CL|0.023531697|72.41%
View combined sample_49.variant13 3 rs13080080
dbSNP Clinvar 		46722692 3019.35 G T PASS 0/1 233 None None None 0.64876 0.64880 0.36123 None None None None None None ALS2CL|0.023531697|72.41%
View combined sample_49.variant13 3 rs34935085
dbSNP Clinvar 		46727909 1148.83 C A PASS 0/1 98 SYNONYMOUS_CODING LOW None 0.04573 0.04573 0.04383 None None None None None None ALS2CL|0.023531697|72.41%
View combined sample_49.variant13 3 rs7642448
dbSNP Clinvar 		46729757 1148.02 C G PASS 1/1 109 NON_SYNONYMOUS_CODING MODERATE None 0.44848 0.44850 0.42134 0.19 0.91 None None None None None None ALS2CL|0.023531697|72.41%

AMIGO3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs35201844
dbSNP Clinvar 		49756212 6636.2 G A PASS 0/1 538 SYNONYMOUS_CODING LOW None 0.01198 0.01198 0.00939 None None None None None None RNF123|0.227645905|33.58%,AMIGO3|0.025035326|71.77%,GMPPB|0.248151066|31.69%

ANKRD28
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs2470548
dbSNP Clinvar 		15737689 4612.38 G A PASS 0/1 89 SYNONYMOUS_CODING LOW None 0.46925 0.46920 0.45701 None None None None None None ANKRD28|0.433008795|19.04%
View combined sample_49.variant13 3 rs2470549
dbSNP Clinvar 		15737698 4601.4 T C PASS 0/1 89 SYNONYMOUS_CODING LOW None 0.41294 0.41290 0.47133 None None None None None None ANKRD28|0.433008795|19.04%

ANKUB1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs954714
dbSNP Clinvar 		149479301 1968.24 C T PASS 0/1 141 SYNONYMOUS_CODING LOW None 0.52057 0.52060 None None None None None None ANKUB1|0.042457252|64.97%
View combined sample_49.variant13 3 rs7630153
dbSNP Clinvar 		149488442 2247.81 A G PASS 1/1 186 SYNONYMOUS_CODING LOW None 0.32847 0.32850 0.38984 None None None None None None ANKUB1|0.042457252|64.97%
View combined sample_49.variant13 3 rs7610425
dbSNP Clinvar 		149485293 2948.39 T C PASS 0/1 131 NON_SYNONYMOUS_CODING MODERATE None 0.26478 0.26480 0.33969 0.31 0.00 None None None None None None ANKUB1|0.042457252|64.97%

ANO10
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs6441771
dbSNP Clinvar 		43414318 3506.86 A G PASS 1/1 66 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 combined sample_49.variant13 3 rs3772165
dbSNP Clinvar 		43602803 1195.7 C T PASS 0/1 56 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
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs2231224
dbSNP Clinvar 		183901281 2918.41 G A PASS 1/1 86 SYNONYMOUS_CODING LOW None 0.07348 0.07348 0.10769 None None None None None None EIF2B5|0.736636231|7.47%,AP2M1|0.714763661|8.13%
View combined sample_49.variant13 3 rs843365
dbSNP Clinvar 		183900729 6173.13 T C PASS 1/1 172 None None None 0.52875 0.52880 0.50 0.00 None None None None None None EIF2B5|0.736636231|7.47%,AP2M1|0.714763661|8.13%
View combined sample_49.variant13 3 rs8478
dbSNP Clinvar 		183899832 2767.98 C T PASS 1/1 156 SYNONYMOUS_CODING LOW None 0.14357 0.14360 0.18326 None None None None None None EIF2B5|0.736636231|7.47%,AP2M1|0.714763661|8.13%

ARGFX
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs9813391
dbSNP Clinvar 		121304933 803.95 G A PASS 0/1 127 NON_SYNONYMOUS_CODING MODERATE None 0.17113 0.17110 0.22943 0.77 0.00 None None None None None None ARGFX|0.001850633|91.41%

ARHGAP31
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs3732413
dbSNP Clinvar 		119133183 1878.6 G A PASS 0/1 99 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 combined sample_49.variant13 3 rs4688001
dbSNP Clinvar 		119118104 4781.21 A G PASS 1/1 113 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
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs13073165
dbSNP Clinvar 		153840162 2074.01 C T PASS 0/1 241 SYNONYMOUS_CODING LOW None 0.20148 0.20150 0.10586 None None None None None None ARHGEF26|0.061409989|59.47%
View combined sample_49.variant13 3 rs12493885
dbSNP Clinvar 		153839866 2924.51 G C PASS 1/1 125 NON_SYNONYMOUS_CODING MODERATE None 0.95927 0.95930 0.10090 1.00 0.00 None None None None None None ARHGEF26|0.061409989|59.47%
View combined sample_49.variant13 3 rs13096373
dbSNP Clinvar 		153840389 1116.35 T C PASS 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.32428 0.32430 0.20365 1.00 0.00 None None None None None None ARHGEF26|0.061409989|59.47%
View combined sample_49.variant13 3 rs12497267
dbSNP Clinvar 		153839960 5781.21 T C PASS 1/1 148 NON_SYNONYMOUS_CODING MODERATE None 0.94968 0.94970 0.15953 0.71 0.00 None None None None None None ARHGEF26|0.061409989|59.47%
View combined sample_49.variant13 3 rs59508481
dbSNP Clinvar 		153839959 5781.21 C T PASS 0/1 152 NON_SYNONYMOUS_CODING MODERATE None 0.61801 0.61800 0.02696 0.13 0.01 None None None None None None ARHGEF26|0.061409989|59.47%

ARHGEF3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs3732508
dbSNP Clinvar 		56835761 2442.04 G A PASS 0/1 171 None None None 0.32129 0.32130 0.39421 None None None None None None ARHGEF3|0.535419787|14.4%

ARPP21
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs2012153
dbSNP Clinvar 		35779750 960.52 A G PASS 0/1 123 SYNONYMOUS_CODING LOW None 0.35883 0.35880 None None None None None None ARPP21|0.628941513|10.81%
View combined sample_49.variant13 3 rs969818
dbSNP Clinvar 		35725250 1306.03 C T PASS 1/1 97 SYNONYMOUS_CODING LOW None 0.71985 0.71980 0.28737 None None None None None None ARPP21|0.628941513|10.81%
View combined sample_49.variant13 3 rs2278757
dbSNP Clinvar 		35778773 1390.91 A G PASS 0/1 109 SYNONYMOUS_CODING LOW None 0.40815 0.40810 0.49338 None None None None None None ARPP21|0.628941513|10.81%

ATG3
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 combined sample_49.variant13 3 rs35560667,rs570214747,rs397767079
dbSNP Clinvar 		112253058 2814.41 C CA PASS 1/1 76 None None None 0.58390 None None None None None None ATG3|0.504506892|15.59%

ATP11B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs11925959
dbSNP Clinvar 		182631792 1161.95 C A PASS 0/1 111 None None None 0.35244 0.35240 0.26496 None None None None None None ATP11B|0.419706725|19.59%

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 combined sample_49.variant13 3 rs765688471
dbSNP Clinvar 		193174887 1366.88 T C PASS 0/1 109 NON_SYNONYMOUS_CODING MODERATE None 0.04 0.17 None None None None None None ATP13A4|0.189604914|37.86%
View combined sample_49.variant13 3 rs6788448
dbSNP Clinvar 		193209178 1066.28 T C PASS 0/1 68 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 combined sample_49.variant13 3 rs2130407
dbSNP Clinvar 		193210768 1247.35 A G PASS 0/1 78 SYNONYMOUS_CODING LOW None 0.52736 0.52740 0.47970 None None None None None None ATP13A4|0.189604914|37.86%
View combined sample_49.variant13 3 rs3796181
dbSNP Clinvar 		193183817 977.04 A G PASS 0/1 62 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 combined sample_49.variant13 3 rs6788770
dbSNP Clinvar 		193036794 789.02 G C PASS 1/1 83 SYNONYMOUS_CODING LOW None 0.89597 0.89600 0.15124 None None None None None None ATP13A5|0.051025682|62.36%
View combined sample_49.variant13 3 rs2271791
dbSNP Clinvar 		192994543 522.82 A G PASS 1/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.33227 0.33230 0.36906 0.11 0.04 None None None None None None HRASLS|0.039427582|65.97%,ATP13A5|0.051025682|62.36%
View combined sample_49.variant13 3 rs2280268
dbSNP Clinvar 		193031926 1391.3 C T PASS 1/1 70 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 combined sample_49.variant13 3 rs6797429
dbSNP Clinvar 		193080414 2009.95 C G PASS 1/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.51378 0.51380 0.44895 1.00 0.00 None None None None None None ATP13A5|0.051025682|62.36%
View combined sample_49.variant13 3 rs11926955
dbSNP Clinvar 		193042776 1904.15 T C PASS 1/1 143 SYNONYMOUS_CODING LOW None 0.89537 0.89540 0.15178 None None None None None None ATP13A5|0.051025682|62.36%

ATP2B2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs35678
dbSNP Clinvar 		10379923 3609.75 C T PASS 0/1 170 SYNONYMOUS_CODING LOW None 0.56789 0.56790 0.45633 None None None None None None ATP2B2|0.393540983|21.16%
View combined sample_49.variant13 3 rs2289274
dbSNP Clinvar 		10413715 577.63 G A PASS 0/1 87 SYNONYMOUS_CODING LOW None 0.27696 0.27700 0.25788 None None None None None None ATP2B2|0.393540983|21.16%
View combined sample_49.variant13 3 rs751122
dbSNP Clinvar 		10420087 984.8 T C PASS 0/1 68 SYNONYMOUS_CODING LOW None 0.49321 0.49320 0.36099 None None None None None None ATP2B2|0.393540983|21.16%

ATR
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs1802904
dbSNP Clinvar 		142168331 3782.9 C T PASS 1/1 114 SYNONYMOUS_CODING LOW None 0.91633 0.91630 0.10218 None None None None None None ATR|0.696057424|8.61%
View combined sample_49.variant13 3 rs28897765
dbSNP Clinvar 		142280108 1233.31 T C PASS 0/1 81 SYNONYMOUS_CODING LOW None 0.01877 0.01877 0.02084 None None None None None None ATR|0.696057424|8.61%
View combined sample_49.variant13 3 rs28897764
dbSNP Clinvar 		142281298 749.86 C T PASS 0/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.01837 0.01837 0.02038 0.25 0.03 None None None None None None ATR|0.696057424|8.61%
View combined sample_49.variant13 3 rs2227928
dbSNP Clinvar 		142281612 3001.82 A G PASS 0/1 52 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 combined sample_49.variant13 3 rs28910270
dbSNP Clinvar 		142275353 1538.93 C T PASS 0/1 116 SYNONYMOUS_CODING LOW None 0.01837 0.01837 0.02045 None None None None None None ATR|0.696057424|8.61%
View combined sample_49.variant13 3 rs28910271
dbSNP Clinvar 		142269075 2509.38 C T PASS 0/1 167 NON_SYNONYMOUS_CODING MODERATE None 0.01877 0.01877 0.02061 0.29 0.00 None None None None None None ATR|0.696057424|8.61%
View combined sample_49.variant13 3 rs2227930
dbSNP Clinvar 		142277575 16102.4 A T PASS 0/1 1065 SYNONYMOUS_CODING LOW None 0.59804 0.59800 0.33700 None None None None None None ATR|0.696057424|8.61%
View combined sample_49.variant13 3 rs28910272
dbSNP Clinvar 		142268372 343.07 C T PASS 0/1 19 SYNONYMOUS_CODING LOW None 0.01877 0.01877 0.01914 None None None None None None ATR|0.696057424|8.61%

ATXN7
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs576518931
dbSNP Clinvar 		63898360 616.81 G GG... PASS 0/2 17 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.02137 0.02137 None None None None None None ATXN7|0.45901663|17.72%
View combined sample_49.variant13 3 rs1053338
dbSNP Clinvar 		63967900 2647.54 A G PASS 0/1 196 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 combined sample_49.variant13 3 rs3774729
dbSNP Clinvar 		63982082 501.34 G A PASS 0/1 100 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%

B4GALT4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs4422294
dbSNP Clinvar 		118948716 650.19 G A PASS 0/1 82 SYNONYMOUS_CODING LOW None 0.19329 0.19330 0.22159 None None None None None None B4GALT4|0.059766507|59.94%

BBX
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs34531902,rs397757043
dbSNP Clinvar 		107491758 676.79 TAGA T PASS 1/1 72 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.03734 0.03734 0.08853 None None None None None None BBX|0.689204143|8.82%

BCHE
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs28933390
dbSNP Clinvar 		165547569 1021.45 C A PASS 0/1 95 NON_SYNONYMOUS_CODING MODERATE None 0.00200 0.00200 0.00361 0.01 0.40 None None None None None None BCHE|0.536654702|14.36%

BCL6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs1056932
dbSNP Clinvar 		187447032 894.75 G A PASS 0/1 88 SYNONYMOUS_CODING LOW None 0.56530 0.56530 0.49739 None None None None None None BCL6|0.913517921|3.15%

BOC
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_49.variant13 3 rs115004071
dbSNP Clinvar 		112969715 1018.45 G A PASS 0/1 107 None None None 0.04073 0.04073 0.02730 None None None None None None BOC|0.066912228|58.17%
View combined sample_49.variant13 3 rs9819129
dbSNP Clinvar 		112989763 1672.35 C T PASS 0/1 111 SYNONYMOUS_CODING LOW None 0.02256 0.02256 0.02891 None None None None None None BOC|0.066912228|58.17%
View combined sample_49.variant13 3 rs775228
dbSNP Clinvar 		112997554 848.16 A G PASS 1/1 140 SYNONYMOUS_CODING LOW None 0.62041 0.62040 0.45240 None None None None None None BOC|0.066912228|58.17%
View combined sample_49.variant13 3 rs2649878
dbSNP Clinvar 		112998265 1025.53 A G PASS 1/1 66 SYNONYMOUS_CODING LOW None 0.55871 0.55870 0.46171 None None None None None None BOC|0.066912228|58.17%