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+ Genes 545

Genes:
A4GNT, AADAC, AADACL2, ABCC5, ABI3BP, ABTB1, AC022498.1, ACAD11, ACAD9, ACAP2, ACKR2, ACPP, ACTL6A, ACTR8, ACVR2B, ADAMTS9, ADCY5, AGTR1, AHSG, ALAS1, ALCAM, ALDH1L1, ALG1L, ALS2CL, AMOTL2, AMT, ANKRD28, ANKUB1, ANO10, AP2M1, APEH, ARGFX, ARHGAP31, ARHGEF26, ARHGEF3, ARL13B, ARMC8, ARPP21, ATG3, ATG7, ATP11B, ATP13A5, ATP2B2, ATP2C1, ATR, ATXN7, B4GALT4, BCL6, BFSP2, BSN, BTD, BTLA, C3orf17, C3orf18, C3orf20, C3orf22, C3orf27, C3orf30, C3orf33, C3orf38, C3orf49, C3orf52, C3orf62, C3orf72, CACNA1D, CACNA2D2, CACNA2D3, CAMK1, CAMKV, CAND2, CAPN7, CASR, CBLB, CCDC12, CCDC13, CCDC14, CCDC174, CCDC36, CCDC39, CCDC51, CCDC66, CCDC71, CCR2, CCR4, CCR5, CCR9, CCRL2, CD200, CD200R1, CD200R1L, CD80, CD86, CD96, CDC25A, CDCP1, CDHR4, CEP63, CEP70, CEP97, CHDH, CHL1, CHMP2B, CHRD, CHST13, CLCN2, CLDN1, CLDN18, CLEC3B, CLSTN2, CNBP, CNTN3, CNTN4, CNTN6, COL6A5, COL6A6, COL7A1, COMMD2, COX17, CP, CPA3, CPB1, CPN2, CPOX, CRELD1, CSPG5, CSRNP1, CX3CR1, CYP8B1, DAG1, DALRD3, DBR1, DCBLD2, DCP1A, DCUN1D1, DGKG, DHFRL1, DLEC1, DLG1, DNAH1, DNAH12, DNAJB11, DNAJB8, DNAJC13, DPH3, DPPA4, DRD3, DTX3L, DZIP1L, DZIP3, EAF1, EBLN2, ECE2, EDEM1, EEFSEC, EFCC1, EFHB, EIF2A, EIF4G1, ENTPD3, EOMES, EPHA3, EPHA6, EPHB1, EPHB3, ESYT3, EXOSC7, FAIM, FAM107A, FAM162A, FAM194A, FAM198A, FAM208A, FAM43A, FANCD2, FBLN2, FBXO40, FBXW12, FETUB, FEZF2, FGD5, FILIP1L, FLNB, FNDC3B, FOXL2, FRG2C, FRMD4B, FYCO1, FYTTD1, GABRR3, GALNT15, GATA2, GBE1, GFM1, GHSR, GK5, GLB1, GMPPB, GNB4, GNL3, GOLGA4, GOLGB1, GOLIM4, GP5, GPR128, GPR15, GPR156, GPR62, GPR87, GPX1, GRAMD1C, GRK7, GRM2, GRM7, GUCA1C, GYG1, HCLS1, HDAC11, HEG1, HEMK1, HHATL, HHLA2, HLTF, HPS3, HRG, HTR3C, HTR3D, HTR3E, HYAL2, HYAL3, IFRD2, IFT80, IGSF10, IGSF11, IL17RB, IL17RC, IL17RD, IL17RE, IL5RA, ILDR1, IMPG2, IP6K2, IQCB1, IQCF1, IQCF2, IQSEC1, IRAK2, ITGA9, ITGB5, ITIH1, ITIH3, ITPR1, JAGN1, KALRN, KBTBD12, KCNAB1, KCNMB2, KCNMB3, KIAA2018, KIF15, KIF9, KLHL24, KLHL40, KLHL6, KNG1, KPNA1, KY, LAMB2, LAMP3, LARS2, LEPREL1, LIMD1, LINC01100, LIPH, LNP1, LPP, LRCH3, LRIG1, LRRC15, LRRC2, LRRC31, LRRC34, LRRC3B, LRRIQ4, LRRN1, LSG1, LTF, LXN, LYZL4, MAATS1, MAGEF1, MAGI1, MAP3K13, MASP1, MCCC1, MCF2L2, MED12L, MFI2, MFN1, MFSD1, MINA, MKRN2, MLF1, MLH1, MON1A, MORC1, MST1, MST1R, MUC13, MUC20, MUC4, MYH15, MYLK, MYNN, MYRIP, NAALADL2, NAT6, NBEAL2, NCEH1, NEK10, NEK11, NEK4, NFKBIZ, NISCH, NIT2, NKTR, NME9, NR1D2, NR1I2, NRROS, NT5DC2, NUP210, NXPE3, OPA1, OR5AC2, OR5H1, OR5H14, OR5H15, OR5H2, OR5H6, OR5K2, OR5K3, OR5K4, OSBPL10, OTOL1, OXNAD1, OXTR, P2RY12, P2RY13, PAQR9, PARP14, PARP15, PARP3, PARP9, PBRM1, PCCB, PCYT1A, PDCD6IP, PDHB, PDIA5, PDZRN3, PHF7, PIGX, PIGZ, PIK3CA, PIK3R4, PLCD1, PLCH1, PLCL2, PLOD2, PLS1, PLSCR2, PLXNA1, PLXNB1, PLXND1, POGLUT1, POLQ, POMGNT2, POPDC2, PP2D1, PPP2R3A, PRICKLE2, PRKCD, PROS1, PRR23A, PRRT3, PRSS45, PRSS46, PRSS50, PSMD2, PTH1R, PTPN23, PTPRG, PTX3, PXK, PYDC2, RAB5A, RAD18, RAF1, RARRES1, RBM5, RBM6, RETNLB, RFC4, RFT1, RFTN1, RNF13, RNF168, ROBO2, RP11-3B7.1, RP11-553A10.1, RPL14, RPSA, RPUSD3, RTP1, RTP2, RTP4, RYBP, RYK, SACM1L, SAMD7, SATB1, SCAP, SCN10A, SCN11A, SCN5A, SEMA3G, SEMA5B, SENP2, SENP7, SERPINI2, SETD2, SETMAR, SH3BP5, SI, SLC12A8, SLC22A14, SLC25A26, SLC25A38, SLC41A3, SLC4A7, SLC51A, SLC6A20, SLC9A9, SLC9C1, SLCO2A1, SMARCC1, SNRK, SOX14, SPCS1, SPINK8, SPSB4, SRPRB, SSUH2, ST3GAL6, STAB1, STXBP5L, SUCLG2, SUMF1, SUSD5, TAMM41, TATDN2, TBC1D5, TDGF1, TF, TFRC, TGM4, THUMPD3, TKT, TLR9, TM4SF1, TM4SF19, TM4SF4, TMCC1, TMEM108, TMEM110-MUSTN1, TMEM14E, TMEM158, TMEM40, TMEM43, TMEM44, TMF1, TMIE, TMPRSS7, TNFSF10, TNIK, TNK2, TOMM70A, TOP2B, TOPAZ1, TOPBP1, TP63, TPRG1, TPRXL, TRAIP, TRAK1, TRANK1, TREX1, TRH, TRIM42, TRIM59, TRIM71, TRNT1, TSC22D2, TTC14, TTC21A, TTLL3, TXNRD3, UBP1, ULK4, UPK1B, USP13, USP19, UTS2B, VEPH1, VGLL4, VPS8, VWA5B2, WDR48, WDR49, WDR52, WNT7A, XIRP1, XPC, XXYLT1, XYLB, YEATS2, ZBBX, ZCWPW2, ZDHHC23, ZDHHC3, ZKSCAN7, ZNF148, ZNF35, ZNF385D, ZNF445, ZNF501, ZNF502, ZNF589, ZNF619, ZNF654, ZNF662, ZNF717, ZNF80, ZNF852, ZXDC,

+ Genes associated with diseases 122

Genes at Omim

ACAD9, ACVR2B, ADCY5, AGTR1, AHSG, AMT, ANO10, ARHGAP31, ARL13B, ATP2B2, ATP2C1, ATR, ATXN7, BCL6, BFSP2, BTD, CACNA1D, CASR, CCDC174, CCDC39, CCR2, CCR5, CD96, CEP63, CHMP2B, CLCN2, CLDN1, CNBP, COL7A1, CP, CPOX, CRELD1, CX3CR1, DAG1, DNAH1, DNAJB11, DRD3, DZIP1L, EIF4G1, FANCD2, FLNB, FOXL2, FYCO1, GATA2, GBE1, GFM1, GHSR, GLB1, GMPPB, GNB4, GPX1, GYG1, HPS3, HRG, IFT80, IL17RC, IL17RD, ILDR1, IMPG2, IQCB1, ITPR1, JAGN1, KALRN, KLHL24, KLHL40, KNG1, KY, LAMB2, LARS2, LIPH, LPP, MASP1, MCCC1, MLF1, MLH1, MST1R, MYLK, NBEAL2, OPA1, P2RY12, PCCB, PCYT1A, PDHB, PIK3CA, PLCD1, PLOD2, POGLUT1, POMGNT2, PRKCD, PROS1, RAF1, RFT1, RNF168, ROBO2, RPSA, SCN10A, SCN11A, SCN5A, SETD2, SI, SLC25A26, SLC25A38, SLC6A20, SLC9A9, SLCO2A1, SUMF1, TDGF1, TF, TFRC, TKT, TMEM43, TMIE, TNIK, TP63, TRAIP, TRAK1, TREX1, TRH, TRNT1, WNT7A, XPC, ZNF148,
ACAD9 Mitochondrial complex I deficiency, nuclear type 20, 611126 (3)
ACVR2B Heterotaxy, visceral, 4, autosomal, 613751 (3)
ADCY5 Dyskinesia, familial, with facial myokymia, 606703 (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)
ARL13B Joubert syndrome 8, 612291 (3)
ATP2B2 {Deafness, autosomal recessive 12, modifier of}, 601386 (3)
ATP2C1 Hailey-Hailey disease, 169600 (3)
ATR ?Cutaneous telangiectasia and cancer syndrome, familial, 614564 (3)
Seckel syndrome 1, 210600 (3)
ATXN7 Spinocerebellar ataxia 7, 164500 (3)
BCL6 Lymphoma, B-cell (2)
BFSP2 Cataract 12, multiple types, 611597 (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)
CCDC174 Hypotonia, infantile, with psychomotor retardation, 616816 (3)
CCDC39 Ciliary dyskinesia, primary, 14, 613807 (3)
CCR2 {HIV infection, susceptibility/resistance to} (3)
CCR5 {HIV infection, susceptibility/resistance to} (3)
{Hepatitis C virus, resistance to}, 609532 (3)
{West nile virus, susceptibility to}, 610379 (3)
{Diabetes mellitus, insulin-dependent, 22}, 612522 (3)
CD96 C syndrome, 211750 (3)
CEP63 ?Seckel syndrome 6, 614728 (3)
CHMP2B Amyotrophic lateral sclerosis 17, 614696 (3)
Dementia, familial, nonspecific, 600795 (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)
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)
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)
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)
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)
GNB4 Charcot-Marie-Tooth disease, dominant intermediate F, 615185 (3)
GPX1 Hemolytic anemia due to glutathione peroxidase deficiency, 614164 (1)
GYG1 ?Glycogen storage disease XV, 613507 (3)
Polyglucosan body myopathy 2, 616199 (3)
HPS3 Hermansky-Pudlak syndrome 3, 614072 (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)
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)
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)
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)
LAMB2 Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199 (3)
Pierson syndrome, 609049 (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)
MLF1 Leukemia, acute myeloid, 601626 (1)
MLH1 Colorectal cancer, hereditary nonpolyposis, type 2, 609310 (3)
Mismatch repair cancer syndrome, 276300 (3)
Muir-Torre syndrome, 158320 (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)
PCCB Propionicacidemia, 606054 (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)
PLOD2 Bruck syndrome 2, 609220 (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)
PROS1 Thrombophilia due to protein S deficiency, autosomal dominant, 612336 (3)
Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3)
RAF1 Cardiomyopathy, dilated, 1NN, 615916 (3)
LEOPARD syndrome 2, 611554 (3)
Noonan syndrome 5, 611553 (3)
RFT1 Congenital disorder of glycosylation, type In, 612015 (3)
RNF168 RIDDLE syndrome, 611943 (3)
ROBO2 Vesicoureteral reflux 2, 610878 (3)
RPSA Asplenia, isolated congenital, 271400 (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)
SLC25A26 Combined oxidative phosphorylation deficiency 28, 616794 (3)
SLC25A38 Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 (3)
SLC6A20 Hyperglycinuria, 138500 (3)
Iminoglycinuria, digenic, 242600 (3)
SLC9A9 {?Autism susceptibility 16}, 613410 (3)
SLCO2A1 Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 (3)
SUMF1 Multiple sulfatase deficiency, 272200 (3)
TDGF1 Forebrain defects (3)
TF Atransferrinemia, 209300 (3)
TFRC Immunodeficiency 46, 616740 (3)
TKT Short stature, developmental delay, and congenital heart defects, 617044 (3)
TMEM43 Arrhythmogenic right ventricular dysplasia 5, 604400 (3)
Emery-Dreifuss muscular dystrophy 7, AD, 614302 (3)
TMIE Deafness, autosomal recessive 6, 600971 (3)
TNIK Mental retardation, autosomal recessive 54, 617028 (3)
TP63 Hay-Wells syndrome, 106260 (3)
ADULT syndrome, 103285 (3)
Limb-mammary syndrome, 603543 (3)
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292 (3)
Orofacial cleft 8, 618149 (3)
Rapp-Hodgkin syndrome, 129400 (3)
Split-hand/foot malformation 4, 605289 (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)
WNT7A Fuhrmann syndrome, 228930 (3)
Ulna and fibula, absence of, with severe limb deficiency, 276820 (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, ALS2CL, AMT, ANO10, ARHGAP31, ARL13B, ATP2C1, ATR, ATXN7, BFSP2, BTD, CACNA1D, CACNA2D2, CASR, CCDC14, CCDC39, CD96, CEP63, CHMP2B, CLCN2, CLDN1, CNBP, COL7A1, CP, CPOX, CRELD1, DAG1, DNAH1, DNAJC13, EIF4G1, FANCD2, FLNB, FOXL2, FYCO1, GATA2, GBE1, GFM1, GHSR, GLB1, GMPPB, GNB4, GYG1, HPS3, HRG, IFT80, IL17RC, IL17RD, ILDR1, IMPG2, IQCB1, ITPR1, JAGN1, KLHL40, KNG1, LAMB2, LARS2, LIPH, MASP1, MCCC1, MLH1, MYLK, NBEAL2, OPA1, P2RY12, PBRM1, PCCB, PCYT1A, PDHB, PIK3CA, PLCD1, PLOD2, POGLUT1, POMGNT2, PRICKLE2, PRKCD, PROS1, PTH1R, RAF1, RFT1, RNF168, ROBO2, RPSA, SCN11A, SCN5A, SETD2, SI, SLC25A26, SLC25A38, SLC6A20, SLC9A9, SLCO2A1, SUMF1, TDGF1, TF, TFRC, TMEM43, TMIE, TP63, TRAIP, TREX1, TRNT1, WNT7A, 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
ALS2CL Schizophrenia
AMT Glycine encephalopathy
ANO10 Spinocerebellar ataxia, autosomal recessive 10
ARHGAP31 Adams-Oliver syndrome 1
ARL13B Joubert syndrome 8
ATP2C1 Benign chronic pemphigus
ATR Cutaneous telangiectasia and cancer syndrome, familial
Seckel syndrome 1
ATXN7 Spinocerebellar ataxia 7
BFSP2 Cataract 12, multiple types
BTD Biotinidase deficiency
CACNA1D Primary aldosteronism, seizures, and neurologic abnormalities
Sinoatrial node dysfunction and deafness
CACNA2D2 Early infantile epileptic encephalopathy, High voltage gated calcium channelopathy-related, autosomal recessive
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
CCDC39 Ciliary dyskinesia, primary, 14
CD96 C syndrome( Opitz Trigonocephaly syndrome)
CEP63 Seckel syndrome 6
CHMP2B Amyotrophic lateral sclerosis, CHMP2B-related
Dementia, familial, nonspecific
Frontotemporal dementia, chromosome 3-linked
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
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
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
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
GNB4 Charcot-Marie-Tooth disease, dominant intermediate F
GYG1 Glycogen storage disease XV
HPS3 Hermansky-Pudlak syndrome 3
HRG Thrombophilia due to histidine-rich glycoprotein deficiency
IFT80 Short-rib thoracic dysplasia 2 with or without polydactyly
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
KNG1 High molecular weight kininogen deficiency
LAMB2 Pierson syndrome
Nephrotic syndrome, type 5, with or without ocular abnormalities
LARS2 Perrault syndrome 4
LIPH Hypotrichosis 7
MASP1 3MC syndrome 1
MCCC1 3-Methylcrotonyl-CoA carboxylase 1 deficiency
MLH1 Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome
Endometrial cancer
Muir-Torre syndrome
MYLK Aortic aneurysm, familial thoracic 7
NBEAL2 Gray platelet syndrome
OPA1 Glaucoma, normal tension, susceptibility to
P2RY12 Bleeding disorder, platelet-type, 8
PBRM1 Clear cell renal cell carcinoma
PCCB Propionic acidemia
PCYT1A Spondylometaphyseal dysplasia with cone-rod dystrophy
PDHB Pyruvate dehydrogensae E1-beta deficiency
PIK3CA Cowden syndrome 5
PLCD1 Nail disorder, nonsyndromic congenital, 3
PLOD2 Bruck syndrome 2
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
PROS1 Thrombophilia, hereditary, due to protein S deficiency
PTH1R Eiken syndrome
Chondrodysplasia, Blomstrand type
Metaphyseal chondrodysplasia, Murk Jansen type
Failure of tooth eruption, primary
RAF1 Cardiomyopathy, dilated, 1NN
LEOPARD syndrome 2
Noonan syndrome 5
RFT1 Congenital disorder of glycosylation, type In
RNF168 RIDDLE syndrome
ROBO2 Congenital anomalies of the kidney and urinary tract
RPSA Asplenia, isolated congenital
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
SLC25A26 Combined oxidative phosphorylation deficiency 28
SLC25A38 Anemia, sideroblastic 2, pyridoxine-refractory
SLC6A20 Iminoglycinuria, digenic
Hyperglycinuria/Iminoglycinuria, modifier of
SLC9A9 Autism susceptibility 16
SLCO2A1 Hypertrophic osteoarthropathy, primary, autosomal recessive 2
Primary hypertrophic osteoarthropathy
SUMF1 Multiple sulfatase deficiency
TDGF1 Forebrain anomalies
Congenital cardiac malformations
TF Atransferrinemia
TFRC Immunodeficiency 46
TMEM43 Arrhythmogenic right ventricular dysplasia 5
Emery-Dreifuss muscular dystrophy 7
TMIE Deafness, autosomal recessive 6
TP63 Split-hand/foot malformation 4
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
Limb-mammary syndrome
Rapp-Hodgkin syndrome
Orofacial cleft 8
ADULT syndrome
Ankyloblepharon-ectodermal defects-cleft lip/palate
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
WNT7A Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome
Fuhrmann syndrome
XPC Xeroderma pigmentosum, group C

Genes at HGMD

Summary

Number of Variants: 8975
Number of Genes: 545

Export to: CSV

A4GNT
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_72.variant33 3 rs2724691
dbSNP Clinvar 		137850003 819.56 A G PASS 0/1 115 SYNONYMOUS_CODING LOW None 0.61402 0.61400 0.35399 None None None None None None A4GNT|0.020635171|73.87%
View combined sample_72.variant33 3 rs2246945
dbSNP Clinvar 		137843476 2112.08 G T PASS 1/1 164 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%
View combined sample_72.variant33 3 rs2170309
dbSNP Clinvar 		137843106 1381.92 T C PASS 1/1 111 SYNONYMOUS_STOP LOW None 0.65415 0.65420 0.33931 None None None None None None A4GNT|0.020635171|73.87%

AADAC
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 combined sample_72.variant33 3 rs1803155
dbSNP Clinvar 		151545601 3404.94 G A PASS 1/1 108 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
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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_72.variant33 3 rs1972977
dbSNP Clinvar 		151463421 3179.26 G T PASS 0/1 115 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_72.variant33 3 rs1132776
dbSNP Clinvar 		183696402 2566.2 A G PASS 0/1 101 SYNONYMOUS_CODING LOW None 0.67652 0.67650 0.38006 None None None None None None ABCC5|0.264803016|30.31%
View combined sample_72.variant33 3 rs939336
dbSNP Clinvar 		183685534 2351.09 A G PASS 0/1 101 SYNONYMOUS_CODING LOW None 0.69169 0.69170 0.37151 None None None None None None ABCC5|0.264803016|30.31%
View combined sample_72.variant33 3 rs3749442
dbSNP Clinvar 		183660585 1499.4 G A PASS 0/1 140 SYNONYMOUS_CODING LOW None 0.24900 0.24900 0.17080 None None None None None None ABCC5|0.264803016|30.31%

ABI3BP
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_72.variant33 3 rs9841585
dbSNP Clinvar 		100558416 985.7 T C PASS 0/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.24461 0.24460 0.67 0.02 3.57 0.01 0.1815 T None None None None ABI3BP|0.072954425|56.79%
View combined sample_72.variant33 3 rs73135597
dbSNP Clinvar 		100560860 2145.34 G A PASS 0/1 171 NON_SYNONYMOUS_CODING MODERATE None 0.10024 0.10020 0.08 0.64 None None None None None None ABI3BP|0.072954425|56.79%
View combined sample_72.variant33 3 rs2245370
dbSNP Clinvar 		100617680 887.36 C T PASS 1/1 70 SYNONYMOUS_CODING LOW None 0.72804 0.72800 0.43846 None None None None None None ABI3BP|0.072954425|56.79%
View combined sample_72.variant33 3 rs3732895
dbSNP Clinvar 		100712249 1093.45 T C PASS 0/1 142 START_LOST HIGH None 0.23942 0.23940 0.14508 0.81 0.00 None None None None None None ABI3BP|0.072954425|56.79%

ABTB1
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_72.variant33 3 . 127398884 2189.01 A G PASS 0/1 188 SYNONYMOUS_CODING LOW None None None None None None None ABTB1|0.075523365|56.17%

AC022498.1
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_72.variant33 3 rs13096615
dbSNP Clinvar 		187897059 971.65 G A PASS 1/1 138 NON_SYNONYMOUS_CODING MODERATE None 0.55212 0.55210 0.47394 0.00 None None None None None None LPP|0.866185415|4.34%

ACAD11
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_72.variant33 3 rs821572
dbSNP Clinvar 		132360883 4591.1 C T PASS 1/1 102 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%

ACAD9
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_72.variant33 3 rs1680778
dbSNP Clinvar 		128614185 1589.96 A C PASS 0/1 154 SYNONYMOUS_CODING LOW None 0.54333 0.54330 0.45025 None None None None None None ACAD9|0.037542625|66.62%
View combined sample_72.variant33 3 rs876755
dbSNP Clinvar 		128627933 1291.85 C T PASS 0/1 111 SYNONYMOUS_CODING LOW None 0.31030 0.31030 0.23443 None None None None None None ACAD9|0.037542625|66.62%

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_72.variant33 3 rs6437374
dbSNP Clinvar 		195076877 374.77 C G PASS 1/1 91 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_72.variant33 3 rs2228468
dbSNP Clinvar 		42907112 1188.09 A C,T PASS 1/1 109 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%

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_72.variant33 3 rs2228403
dbSNP Clinvar 		132068798 1175.37 G A PASS 0/1 70 SYNONYMOUS_CODING LOW None 0.00459 0.00459 0.01069 None None None None None None ACPP|0.270639599|29.85%
View combined sample_72.variant33 3 rs2228402
dbSNP Clinvar 		132068831 1494.84 C T PASS 0/1 81 SYNONYMOUS_CODING LOW None 0.39557 0.39560 0.49969 None None None None None None ACPP|0.270639599|29.85%
View combined sample_72.variant33 3 rs2071505
dbSNP Clinvar 		132075707 1112.67 A G PASS 0/1 119 None None None 0.39617 0.39620 0.49946 None None None None None None ACPP|0.270639599|29.85%
View combined sample_72.variant33 3 rs3181784
dbSNP Clinvar 		132075554 505.84 T C PASS 0/1 30 SYNONYMOUS_CODING LOW None 0.30351 0.30350 0.36399 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_72.variant33 3 rs1132429
dbSNP Clinvar 		179298999 2497.2 C T PASS 0/1 202 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_72.variant33 3 rs1046677
dbSNP Clinvar 		53905308 1571.92 T C PASS 0/1 84 SYNONYMOUS_CODING LOW None 0.69229 0.69230 0.48116 None None None None None None ACTR8|0.331819735|25.35%
View combined sample_72.variant33 3 rs4687757
dbSNP Clinvar 		53906513 1548.79 G A PASS 0/1 89 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.69030 0.69030 0.48293 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_72.variant33 3 rs2070489
dbSNP Clinvar 		38519424 5006.39 A G PASS 0/1 181 SYNONYMOUS_CODING LOW None 0.48043 0.48040 0.47724 None None None None None None ACVR2B|0.559847657|13.37%
View combined sample_72.variant33 3 rs1046048
dbSNP Clinvar 		38524742 5365.24 C T PASS 0/1 177 SYNONYMOUS_CODING LOW None 0.35324 0.35320 0.43857 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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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_72.variant33 3 rs36115950
dbSNP Clinvar 		64672474 1348.53 A T PASS 0/1 118 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_72.variant33 3 rs4678027
dbSNP Clinvar 		123167249 1397.05 G A PASS 1/1 41 SYNONYMOUS_CODING LOW None 0.98662 0.98660 0.00873 None None None None None None ADCY5|0.611756901|11.41%

AGTR1
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_72.variant33 3 rs5182
dbSNP Clinvar 		148459395 2904.7 C T PASS 0/1 71 SYNONYMOUS_CODING LOW None 0.45807 0.45810 0.38152 None None None None None None AGTR1|0.849419529|4.65%

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_72.variant33 3 rs4917
dbSNP Clinvar 		186337713 5857.53 T C PASS 1/1 157 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_72.variant33 3 rs4831
dbSNP Clinvar 		186330969 1247.05 C G PASS 0/1 162 SYNONYMOUS_CODING LOW None 0.21745 0.21750 0.20637 None None None None None None AHSG|0.045377146|64.1%
View combined sample_72.variant33 3 rs1071592
dbSNP Clinvar 		186338425 2830.27 A C PASS 1/1 137 SYNONYMOUS_CODING LOW None 0.81470 0.81470 0.22044 None None None None None None AHSG|0.045377146|64.1%
View combined sample_72.variant33 3 rs4918
dbSNP Clinvar 		186338382 1793.52 G C PASS 1/1 80 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_72.variant33 3 rs352168
dbSNP Clinvar 		52237970 998.86 C T PASS 0/1 93 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_72.variant33 3 rs579565
dbSNP Clinvar 		105260518 1171.69 G A PASS 0/1 101 SYNONYMOUS_CODING LOW None 0.23682 0.23680 0.24320 None None None None None None ALCAM|0.549351292|13.76%
View combined sample_72.variant33 3 rs599278
dbSNP Clinvar 		105260596 2374.44 T C PASS 1/1 79 SYNONYMOUS_CODING LOW None 0.96086 0.96090 0.03814 None None None None None None ALCAM|0.549351292|13.76%

ALDH1L1
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_72.variant33 3 rs1127717
dbSNP Clinvar 		125826059 894.17 T C PASS 1/1 87 NON_SYNONYMOUS_CODING MODERATE None 0.19808 0.19810 0.21490 0.13 0.01 None None None None None None ALDH1L1|0.039465558|65.93%

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_72.variant33 3 rs3828357
dbSNP Clinvar 		125648356 66.22 T C PASS 0/1 10 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_72.variant33 3 rs34935085
dbSNP Clinvar 		46727909 1148.83 C A PASS 1/1 108 SYNONYMOUS_CODING LOW None 0.04573 0.04573 0.04383 None None None None None None ALS2CL|0.023531697|72.41%
View combined sample_72.variant33 3 rs7642448
dbSNP Clinvar 		46729757 1148.02 C G PASS 1/1 102 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%

AMOTL2
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_72.variant33 3 rs1353776
dbSNP Clinvar 		134077470 1471.67 C G PASS 1/1 101 NON_SYNONYMOUS_CODING MODERATE None 0.00080 0.00080 0.26918 1.00 0.00 None None None None None None AMOTL2|0.079628393|55.26%
View combined sample_72.variant33 3 rs113677766
dbSNP Clinvar 		134080567 1577.47 A G PASS 0/1 150 SYNONYMOUS_CODING LOW None 0.00739 0.00739 0.00532 None None None None None None AMOTL2|0.079628393|55.26%

AMT
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 combined sample_72.variant33 3 rs11715915
dbSNP Clinvar 		49455330 1441.34 C T PASS 1/1 159 SYNONYMOUS_CODING LOW None 0.20128 0.20130 0.28894 None None None None None None AMT|0.121814871|47.17%

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_72.variant33 3 rs2470548
dbSNP Clinvar 		15737689 4612.38 G A PASS 0/1 87 SYNONYMOUS_CODING LOW None 0.46925 0.46920 0.45701 None None None None None None ANKRD28|0.433008795|19.04%
View combined sample_72.variant33 3 rs2470549
dbSNP Clinvar 		15737698 4601.4 T C PASS 0/1 87 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_72.variant33 3 rs954714
dbSNP Clinvar 		149479301 1968.24 C T PASS 0/1 153 SYNONYMOUS_CODING LOW None 0.52057 0.52060 None None None None None None ANKUB1|0.042457252|64.97%
View combined sample_72.variant33 3 rs7610425
dbSNP Clinvar 		149485293 2948.39 T C PASS 0/1 148 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%
View combined sample_72.variant33 3 rs7630153
dbSNP Clinvar 		149488442 2247.81 A G PASS 0/1 219 SYNONYMOUS_CODING LOW None 0.32847 0.32850 0.38984 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_72.variant33 3 rs6441771
dbSNP Clinvar 		43414318 3506.86 A G PASS 1/1 93 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_72.variant33 3 rs3772165
dbSNP Clinvar 		43602803 1195.7 C T PASS 1/1 89 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
 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_72.variant33 3 rs8478
dbSNP Clinvar 		183899832 2767.98 C T PASS 0/1 219 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%
View combined sample_72.variant33 3 rs843365
dbSNP Clinvar 		183900729 6173.13 T C PASS 0/1 168 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%

APEH
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_72.variant33 3 rs1131095
dbSNP Clinvar 		49714225 1687.75 T C PASS 1/1 175 SYNONYMOUS_CODING LOW None 0.20268 0.20270 0.28287 None None None None None None APEH|0.758566241|6.88%

ARGFX
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_72.variant33 3 rs9813391
dbSNP Clinvar 		121304933 803.95 G A PASS 0/1 147 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_72.variant33 3 rs4688001
dbSNP Clinvar 		119118104 4781.21 A G PASS 1/1 148 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None ARHGAP31|0.196163887|37.14%
View combined sample_72.variant33 3 rs3732413
dbSNP Clinvar 		119133183 1878.6 G A PASS 1/1 119 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_72.variant33 3 rs61740281
dbSNP Clinvar 		119133554 2711.72 G A PASS 0/1 104 SYNONYMOUS_CODING LOW None 0.12979 0.12980 0.12711 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_72.variant33 3 rs12497267
dbSNP Clinvar 		153839960 5781.21 T C PASS 1/1 147 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_72.variant33 3 rs13073165
dbSNP Clinvar 		153840162 2074.01 C T PASS 1/1 212 SYNONYMOUS_CODING LOW None 0.20148 0.20150 0.10586 None None None None None None ARHGEF26|0.061409989|59.47%
View combined sample_72.variant33 3 rs13096373
dbSNP Clinvar 		153840389 1116.35 T C PASS 1/1 89 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_72.variant33 3 rs12493885
dbSNP Clinvar 		153839866 2924.51 G C PASS 1/1 137 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%

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_72.variant33 3 rs1565376
dbSNP Clinvar 		56763316 1723.99 G A PASS 1/1 170 SYNONYMOUS_CODING LOW None 0.73023 0.73020 0.44410 None None None None None None ARHGEF3|0.535419787|14.4%
View combined sample_72.variant33 3 rs1565377
dbSNP Clinvar 		56763328 1846.94 T C PASS 1/1 201 SYNONYMOUS_CODING LOW None 0.72844 0.72840 0.44687 None None None None None None ARHGEF3|0.535419787|14.4%
View combined sample_72.variant33 3 rs1009118
dbSNP Clinvar 		56763525 2163.55 A G PASS 0/1 200 SYNONYMOUS_CODING LOW None 0.26697 0.26700 0.18484 None None None None None None ARHGEF3|0.535419787|14.4%
View combined sample_72.variant33 3 rs6765444
dbSNP Clinvar 		56763619 1094.68 A G PASS 0/1 124 SYNONYMOUS_CODING LOW None 0.26697 0.26700 0.18476 None None None None None None ARHGEF3|0.535419787|14.4%
View combined sample_72.variant33 3 rs3772219
dbSNP Clinvar 		56771251 1392.11 A C PASS 1/1 98 NON_SYNONYMOUS_CODING MODERATE None 0.41474 0.41470 0.37829 0.07 0.09 None None None None None None ARHGEF3|0.535419787|14.4%
View combined sample_72.variant33 3 rs3732508
dbSNP Clinvar 		56835761 2442.04 G A PASS 0/1 190 None None None 0.32129 0.32130 0.39421 None None None None None None ARHGEF3|0.535419787|14.4%

ARL13B
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_72.variant33 3 rs33944211
dbSNP Clinvar 		93768268 914.42 C G PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.07768 0.07768 0.08696 0.44 0.00 None None None None None None ARL13B|0.209575721|35.63%,DHFRL1|0.005806984|84.81%

ARMC8
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_72.variant33 3 . 137986055 687.87 T A PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None ARMC8|0.630188836|10.75%,NME9|0.027452046|70.67%

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_72.variant33 3 rs969818
dbSNP Clinvar 		35725250 1306.03 C T PASS 1/1 119 SYNONYMOUS_CODING LOW None 0.71985 0.71980 0.28737 None None None None None None ARPP21|0.628941513|10.81%

ATG3
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_72.variant33 3 rs35560667,rs570214747,rs397767079
dbSNP Clinvar 		112253058 2814.41 C CA PASS 0/1 100 None None None 0.58390 None None None None None None ATG3|0.504506892|15.59%

ATG7
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_72.variant33 3 rs8154
dbSNP Clinvar 		11596302 2502.43 T C PASS 0/1 266 SYNONYMOUS_CODING LOW None 0.25459 0.25460 0.32239 None None None None None None ATG7|0.493408428|16.17%

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_72.variant33 3 rs4859142
dbSNP Clinvar 		182614493 2328.13 T C PASS 0/1 131 SYNONYMOUS_CODING LOW None 0.14357 0.14360 0.17064 None None None None None None ATP11B|0.419706725|19.59%

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_72.variant33 3 rs11926955
dbSNP Clinvar 		193042776 1904.15 T C PASS 1/1 156 SYNONYMOUS_CODING LOW None 0.89537 0.89540 0.15178 None None None None None None ATP13A5|0.051025682|62.36%
View combined sample_72.variant33 3 rs6788770
dbSNP Clinvar 		193036794 789.02 G C PASS 1/1 54 SYNONYMOUS_CODING LOW None 0.89597 0.89600 0.15124 None None None None None None ATP13A5|0.051025682|62.36%
View combined sample_72.variant33 3 rs6797429
dbSNP Clinvar 		193080414 2009.95 C G PASS 1/1 41 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_72.variant33 3 rs2271791
dbSNP Clinvar 		192994543 522.82 A G PASS 1/1 39 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_72.variant33 3 rs2280268
dbSNP Clinvar 		193031926 1391.3 C T PASS 1/1 99 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%

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_72.variant33 3 rs35678
dbSNP Clinvar 		10379923 3609.75 C T PASS 0/1 173 SYNONYMOUS_CODING LOW None 0.56789 0.56790 0.45633 None None None None None None ATP2B2|0.393540983|21.16%

ATP2C1
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_72.variant33 3 rs16835513
dbSNP Clinvar 		130718472 861.31 G A PASS 0/1 104 SYNONYMOUS_CODING LOW None 0.11462 0.11460 0.11464 None None None None None None ATP2C1|0.628730902|10.83%

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_72.variant33 3 rs1802904
dbSNP Clinvar 		142168331 3782.9 C T PASS 0/1 138 SYNONYMOUS_CODING LOW None 0.91633 0.91630 0.10218 None None None None None None ATR|0.696057424|8.61%
View combined sample_72.variant33 3 rs2227932
dbSNP Clinvar 		142217537 600.45 A G PASS 0/1 46 SYNONYMOUS_CODING LOW None 0.06689 0.06689 0.07681 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_72.variant33 3 rs1053338
dbSNP Clinvar 		63967900 2647.54 A G PASS 0/1 239 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_72.variant33 3 rs3774729
dbSNP Clinvar 		63982082 501.34 G A PASS 0/1 130 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%
View combined sample_72.variant33 3 rs576518931
dbSNP Clinvar 		63898360 616.81 G GG... PASS 0/2 25 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.02137 0.02137 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_72.variant33 3 rs3764779
dbSNP Clinvar 		118945796 1776.42 G C PASS 0/1 175 NON_SYNONYMOUS_CODING MODERATE None 0.29693 0.29690 0.27157 0.78 0.00 None None None None None None B4GALT4|0.059766507|59.94%

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_72.variant33 3 rs2229362
dbSNP Clinvar 		187446211 528.27 C T PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.18510 0.18510 0.23774 0.29 0.00 None None None None None None BCL6|0.913517921|3.15%

BFSP2
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_72.variant33 3 rs2276737
dbSNP Clinvar 		133167363 1179.86 G A PASS 0/1 42 SYNONYMOUS_CODING LOW None 0.43650 0.43650 0.46402 None None None None None None BFSP2|0.103322772|50.53%

BSN
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_72.variant33 3 rs34762726
dbSNP Clinvar 		49689210 901.78 G A PASS 1/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.20887 0.20890 0.28799 0.00 None None None None None None BSN|0.190182415|37.78%
View combined sample_72.variant33 3 rs9858542
dbSNP Clinvar 		49701983 1225.2 G A PASS 1/1 84 SYNONYMOUS_CODING LOW None 0.19529 0.19530 0.27841 None None None None None None BSN|0.190182415|37.78%
View combined sample_72.variant33 3 rs11709525
dbSNP Clinvar 		49690496 1201.08 C T PASS 1/1 115 SYNONYMOUS_CODING LOW None 0.20747 0.20750 0.28718 None None None None None None BSN|0.190182415|37.78%
View combined sample_72.variant33 3 rs4855885
dbSNP Clinvar 		49690199 1934.51 G A PASS 1/1 234 SYNONYMOUS_CODING LOW None 0.91354 0.91350 0.16100 None None None None None None BSN|0.190182415|37.78%

BTD
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_72.variant33 3 rs2019160
dbSNP Clinvar 		15643043 744.21 A G PASS 1/1 86 None None None 0.96805 0.96810 None None None None None None HACL1|0.127678735|46.24%,BTD|0.016571109|76.15%
View combined sample_72.variant33 3 rs35034250
dbSNP Clinvar 		15686534 1439.32 C T PASS 0/1 129 NON_SYNONYMOUS_CODING MODERATE None 0.00679 0.00679 0.01792 0.16 0.00 None None None None None None BTD|0.016571109|76.15%

BTLA
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_72.variant33 3 rs9288952
dbSNP Clinvar 		112185025 5503.59 G A PASS 1/1 115 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%
View combined sample_72.variant33 3 rs2931761
dbSNP Clinvar 		112190137 5101.67 G T PASS 1/1 191 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%

C3orf17
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_72.variant33 3 rs2306857
dbSNP Clinvar 		112727184 1581.73 A T PASS 1/1 133 NON_SYNONYMOUS_CODING MODERATE None 0.49621 0.49620 0.38659 0.12 0.04 None None None None None None GTPBP8|0.249715548|31.53%,C3orf17|0.030655126|69.13%

C3orf18
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_72.variant33 3 rs1034405
dbSNP Clinvar 		50597092 5822.92 G A PASS 1/1 216 NON_SYNONYMOUS_CODING MODERATE None 0.83267 0.83270 0.18894 0.00 1.00 None None None None None None C3orf18|0.106330269|49.91%