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+ Genes 399

Genes:
A2ML1, AAAS, ABCC9, ACACB, ACADS, ACSS3, ADCY6, AGAP2, AKAP3, ALDH1L2, ALG10B, AMIGO2, ANKLE2, ANKRD13A, ANKRD33, APOBEC1, APPL2, AQP2, ARF3, ARHGAP9, ARHGDIB, ARHGEF25, ART4, ASIC1, ASUN, ATF7IP, ATN1, ATP2B1, ATP6V0A2, ATXN2, AVIL, AVPR1A, B3GNT4, B4GALNT3, BCL2L14, BEST3, BHLHE41, BIN2, BTBD11, C12orf10, C12orf29, C12orf43, C12orf45, C12orf49, C12orf5, C12orf54, C12orf55, C12orf60, C12orf66, C12orf68, C1RL, C2CD5, CACNB3, CAMKK2, CAND1, CAPRIN2, CASC1, CCDC38, CCDC63, CCDC77, CCDC91, CCND2, CCNT1, CD163, CD163L1, CD27, CD4, CDKN1B, CELA1, CERS5, CHD4, CHFR, CHPT1, CIT, CKAP4, CLEC12A, CLEC12B, CLEC1A, CLEC1B, CLEC2D, CLEC4A, CLEC4C, CLEC9A, CLIP1, CLLU1, CMKLR1, CNTN1, COL2A1, COQ10A, COQ5, CPM, CRY1, CS, CUX2, DBX2, DDX11, DDX23, DDX51, DDX55, DGKA, DHX37, DIP2B, DPY19L2, DUSP16, DUSP6, DYRK2, E2F7, EEA1, EFCAB4B, EIF4B, EP400, ERBB3, ESPL1, FAM71C, FAM90A1, FAR2, FBXL14, FBXW8, FGD4, FGF6, FOXJ2, FOXM1, FRS2, GALNT8, GALNT9, GAPDH, GATC, GCN1L1, GDF3, GLI1, GLIPR1, GLS2, GLT1D1, GNPTAB, GNS, GOLGA3, GPD1, GPR133, GPR162, GPR19, GPRC5D, GRASP, GRIN2B, GRIP1, GTF2H3, GUCY2C, GXYLT1, H1FNT, HAL, HDAC7, HELB, HIP1R, HNF1A, HOXC10, HOXC11, HOXC4, HOXC9, HPD, IFLTD1, IQSEC3, IRAK3, ITGA5, ITGA7, ITPR2, KCNA1, KCNA5, KCNA6, KCNC2, KCTD10, KERA, KIAA1033, KIAA1467, KIAA1551, KLRC1, KLRC2, KLRC3, KLRC4, KLRD1, KLRF1, KLRG1, KLRK1, KRAS, KRR1, KRT1, KRT2, KRT4, KRT6A, KRT6B, KRT6C, KRT7, KRT71, KRT72, KRT74, KRT75, KRT76, KRT77, KRT78, KRT79, KRT80, KRT81, KRT82, KRT83, KRT84, KRT86, LAG3, LDHB, LETMD1, LGR5, LRMP, LRP1, LRP6, LRRC43, LRRIQ1, LRRK2, LRTM2, LTBR, MAGOHB, MANSC1, MDM1, MED13L, METAP2, METTL21B, METTL25, METTL7B, MFSD5, MGP, MMAB, MMP17, MMP19, MON2, MPHOSPH9, MTERFD3, MUCL1, MVK, MYBPC1, NACA, NANOG, NAP1L1, NAV3, NCAPD2, NCKAP1L, NCOR2, NOS1, NRIP2, NT5DC3, NTF3, NUP107, NUP37, NXPH4, OGFOD2, OR10P1, OR6C1, OR6C4, OR6C6, OR6C65, OR6C68, OR6C70, OR6C76, OR8S1, OS9, P2RX2, P2RX4, P2RX7, PAH, PAN2, PAWR, PCED1B, PDE1B, PDE3A, PFKM, PHC1, PIP4K2C, PITPNM2, PIWIL1, PLBD1, PLEKHG6, PLEKHG7, PLXNC1, PMEL, POLE, POP5, PPFIBP1, PPP1CC, PRB1, PRB2, PRB4, PRICKLE1, PRR4, PSMD9, PTPN6, PTPRO, PTPRR, PZP, R3HDM2, RAB21, RAPGEF3, RARG, RASAL1, RBM19, RBP5, RDH5, RECQL, REP15, RERG, RERGL, RFX4, RHOF, RIMBP2, RIMKLB, RND1, RPAP3, RPH3A, RPLP0, SART3, SBNO1, SCAF11, SCARB1, SCNN1A, SCYL2, SFSWAP, SH2B3, SLC11A2, SLC15A4, SLC16A7, SLC26A10, SLC2A14, SLC2A3, SLC38A4, SLC5A8, SLC6A12, SLCO1B1, SLCO1B3, SLCO1C1, SMCO3, SOAT2, SPATS2, SPRYD4, SRGAP1, SSPN, ST8SIA1, STAB2, STK38L, STX2, STYK1, SUOX, SYT10, TAOK3, TAPBPL, TARBP2, TAS2R10, TAS2R14, TAS2R19, TAS2R20, TAS2R42, TAS2R50, TAS2R8, TAS2R9, TBK1, TBX3, TCHP, TCP11L2, TCTN2, TENC1, TIMELESS, TMCC3, TMED2, TMEM119, TMEM120B, TMEM132B, TMEM132D, TMPO, TMTC3, TNFRSF1A, TPH2, TSPAN11, TSPAN9, UBC, UBE3B, ULK1, USP15, USP30, USP44, UTP20, VAMP1, VDR, VWF, WIBG, WIF1, WNK1, XRCC6BP1, YBX3, ZBTB39, ZFC3H1, ZNF10, ZNF140, ZNF26, ZNF641, ZNF705A, ZNF84,

+ Genes associated with diseases 101

Genes at Omim

A2ML1, AAAS, ABCC9, ACADS, ADCY6, ALG10B, ANKLE2, AQP2, ART4, ATN1, ATP6V0A2, ATXN2, BHLHE41, CCND2, CD27, CD4, CDKN1B, CHD4, CIT, CLEC1A, CNTN1, COL2A1, CRY1, CUX2, DDX11, DIP2B, DPY19L2, DUSP6, ERBB3, FGD4, GDF3, GLI1, GNPTAB, GNS, GPD1, GRIN2B, GRIP1, GUCY2C, HAL, HNF1A, HPD, IRAK3, ITGA7, ITPR2, KCNA1, KCNA5, KERA, KRAS, KRT1, KRT2, KRT4, KRT6A, KRT6B, KRT6C, KRT71, KRT74, KRT75, KRT81, KRT83, KRT86, LDHB, LRP1, LRP6, LRRK2, MED13L, MGP, MMAB, MMP19, MVK, MYBPC1, NCAPD2, NUP107, NUP37, P2RX2, PAH, PDE3A, PFKM, PHC1, POLE, PRICKLE1, PTPRO, RDH5, SCARB1, SCNN1A, SH2B3, SLC11A2, SLCO1B1, SLCO1B3, SRGAP1, SUOX, TBK1, TBX3, TCTN2, TMTC3, TNFRSF1A, TPH2, UBE3B, VAMP1, VDR, VWF, WNK1,
A2ML1 {Otitis media, susceptibility to}, 166760 (3)
AAAS Achalasia-addisonianism-alacrimia syndrome, 231550 (3)
ABCC9 Atrial fibrillation, familial, 12, 614050 (3)
Cardiomyopathy, dilated, 1O, 608569 (3)
Hypertrichotic osteochondrodysplasia, 239850 (3)
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3)
ADCY6 ?Lethal congenital contracture syndrome 8, 616287 (3)
ALG10B {Long QT syndrome, acquired, reduced susceptibility to}, 613688 (3)
ANKLE2 ?Microcephaly 16, primary, autosomal recessive, 616681 (3)
AQP2 Diabetes insipidus, nephrogenic, 125800 (3)
ART4 [Blood group, Dombrock], 616060 (3)
ATN1 Dentatorubro-pallidoluysian atrophy, 125370 (3)
ATP6V0A2 Cutis laxa, autosomal recessive, type IIA, 219200 (3)
Wrinkly skin syndrome, 278250 (3)
ATXN2 {Parkinson disease, late-onset, susceptibility to}, 168600 (3)
Spinocerebellar ataxia 2, 183090 (3)
{Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090 (3)
BHLHE41 [Short sleeper], 612975 (3)
CCND2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938 (3)
CD27 Lymphoproliferative syndrome 2, 615122 (3)
CD4 OKT4 epitope deficiency, 613949 (3)
CDKN1B Multiple endocrine neoplasia, type IV, 610755 (3)
CHD4 Sifrim-Hitz-Weiss syndrome, 617159 (3)
CIT Microcephaly 17, primary, autosomal recessive, 617090 (3)
CLEC1A {Aspergillosis, susceptibility to}, 614079 (3)
CNTN1 ?Myopathy, congenital, Compton-North, 612540 (3)
COL2A1 Avascular necrosis of the femoral head, 608805 (3)
Achondrogenesis, type II or hypochondrogenesis, 200610 (3)
Czech dysplasia, 609162 (3)
Legg-Calve-Perthes disease, 150600 (3)
Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3)
Kniest dysplasia, 156550 (3)
Osteoarthritis with mild chondrodysplasia, 604864 (3)
Platyspondylic skeletal dysplasia, Torrance type, 151210 (3)
SED congenita, 183900 (3)
SMED Strudwick type, 184250 (3)
Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3)
Spondyloperipheral dysplasia, 271700 (3)
Stickler sydrome, type I, nonsyndromic ocular, 609508 (3)
Stickler syndrome, type I, 108300 (3)
Vitreoretinopathy with phalangeal epiphyseal dysplasia (3)
CRY1 {Delayed sleep phase disorder, susceptibility to}, 614163 (3)
CUX2 Epileptic encephalopathy, early infantile, 67, 618141 (3)
DDX11 Warsaw breakage syndrome, 613398 (3)
DIP2B Mental retardation, FRA12A type, 136630 (3)
DPY19L2 Spermatogenic failure 9, 613958 (3)
DUSP6 Hypogonadotropic hypogonadism 19 with or without anosmia, 615269 (3)
ERBB3 ?Lethal congenital contractural syndrome 2, 607598 (3)
{?Erythroleukemia, familial, susceptibility to}, 133180 (3)
FGD4 Charcot-Marie-Tooth disease, type 4H, 609311 (3)
GDF3 Klippel-Feil syndrome 3, autosomal dominant, 613702 (3)
Microphthalmia, isolated 7, 613704 (3)
Microphthalmia with coloboma 6, 613703 (3)
GLI1 Polydactyly, postaxial, type A8, 618123 (3)
GNPTAB Mucolipidosis II alpha/beta, 252500 (3)
Mucolipidosis III alpha/beta, 252600 (3)
GNS Mucopolysaccharidosis type IIID, 252940 (3)
GPD1 Hypertriglyceridemia, transient infantile, 614480 (3)
GRIN2B Epileptic encephalopathy, early infantile, 27, 616139 (3)
Mental retardation, autosomal dominant 6, 613970 (3)
GRIP1 Fraser syndrome 3, 617667 (3)
GUCY2C Diarrhea 6, 614616 (3)
Meconium ileus, 614665 (3)
HAL [Histidinemia], 235800 (3)
HNF1A Hepatic adenoma, somatic, 142330 (3)
Diabetes mellitus, insulin-dependent, 20, 612520 (3)
MODY, type III, 600496 (3)
Renal cell carcinoma, 144700 (3)
{Diabetes mellitus, insulin-dependent}, 222100 (3)
{Diabetes mellitus, noninsulin-dependent, 2}, 125853 (3)
HPD Hawkinsinuria, 140350 (3)
Tyrosinemia, type III, 276710 (3)
IRAK3 {Asthma susceptibility 5}, 611064 (3)
ITGA7 Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 (3)
ITPR2 ?Anhidrosis, isolated, with normal sweat glands, 106190 (3)
KCNA1 Episodic ataxia/myokymia syndrome, 160120 (3)
KCNA5 Atrial fibrillation, familial, 7, 612240 (3)
KERA Cornea plana 2, autosomal recessive, 217300 (3)
KRAS Arteriovenous malformation of the brain, somatic, 108010 (3)
Gastric cancer, somatic, 137215 (3)
Bladder cancer, somatic, 109800 (3)
Breast cancer, somatic, 114480 (3)
Cardiofaciocutaneous syndrome 2, 615278 (3)
Leukemia, acute myeloid, 601626 (3)
Lung cancer, somatic, 211980 (3)
Noonan syndrome 3, 609942 (3)
Pancreatic carcinoma, somatic, 260350 (3)
RAS-associated autoimmune leukoproliferative disorder, 614470 (3)
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)
KRT1 Ichthyosis histrix, Curth-Macklin type, 146590 (3)
Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)
Epidermolytic hyperkeratosis, 113800 (3)
Keratosis palmoplantaris striata III, 607654 (3)
Palmoplantar keratoderma, epidermolytic, 144200 (3)
Palmoplantar keratoderma, nonepidermolytic, 600962 (3)
KRT2 Ichthyosis bullosa of Siemens, 146800 (3)
KRT4 White sponge nevus 1, 193900 (3)
KRT6A Pachyonychia congenita 3, 615726 (3)
KRT6B Pachyonychia congenita 4, 615728 (3)
KRT6C Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735 (3)
KRT71 ?Hypotrichosis 13, 615896 (3)
KRT74 ?Ectodermal dysplasia 7, hair/nail type, 614929 (3)
?Hypotrichosis 3, 613981 (3)
Woolly hair, autosomal dominant, 194300 (3)
KRT75 {Pseudofolliculitis barbae, susceptibility to}, 612318 (3)
KRT81 Monilethrix, 158000 (3)
KRT83 Erythrokeratodermia variabilis et progressiva 5, 617756 (3)
Monilethrix, 158000 (3)
KRT86 Monilethrix, 158000 (3)
LDHB [Lactate dehydrogenase-B deficiency], 614128 (3)
LRP1 ?Keratosis pilaris atrophicans, 604093 (3)
LRP6 Tooth agenesis, selective, 7, 616724 (3)
{Coronary artery disease, autosomal dominant, 2}, 610947 (3)
LRRK2 {Parkinson disease 8}, 607060 (3)
MED13L Mental retardation and distinctive facial features with or without cardiac defects, 616789 (3)
Transposition of the great arteries, dextro-looped 1, 608808 (3)
MGP Keutel syndrome, 245150 (3)
MMAB Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3)
MMP19 Cavitary optic disc anomalies, 611543 (3)
MVK Hyper-IgD syndrome, 260920 (3)
Mevalonic aciduria, 610377 (3)
Porokeratosis 3, multiple types, 175900 (3)
MYBPC1 Arthrogryposis, distal, type 1B, 614335 (3)
Lethal congenital contracture syndrome 4, 614915 (3)
NCAPD2 ?Microcephaly 21, primary, autosomal recessive, 617983 (3)
NUP107 Galloway-Mowat syndrome 7, 618348 (3)
Nephrotic syndrome, type 11, 616730 (3)
?Ovarian dysgenesis 6, 618078 (3)
NUP37 ?Microcephaly 24, primary, autosomal recessive, 618179 (3)
P2RX2 Deafness, autosomal dominant 41, 608224 (3)
PAH Phenylketonuria, 261600 (3)
[Hyperphenylalaninemia, non-PKU mild], 261600 (3)
PDE3A Hypertension and brachydactyly syndrome, 112410 (3)
PFKM Glycogen storage disease VII, 232800 (3)
PHC1 ?Microcephaly 11, primary, autosomal recessive, 615414 (3)
POLE IMAGE-I syndrome, 618336 (3)
FILS syndrome, 615139 (3)
{Colorectal cancer, susceptibility to, 12}, 615083 (3)
PRICKLE1 Epilepsy, progressive myoclonic 1B, 612437 (3)
PTPRO Nephrotic syndrome, type 6, 614196 (3)
RDH5 Fundus albipunctatus, 136880 (3)
SCARB1 [High density lipoprotein cholesterol level QTL6], 610762 (3)
SCNN1A Bronchiectasis with or without elevated sweat chloride 2, 613021 (3)
?Liddle syndrome 3, 618126 (3)
Pseudohypoaldosteronism, type I, 264350 (3)
SH2B3 Erythrocytosis, somatic, 133100 (3)
Myelofibrosis, somatic, 254450 (3)
Thrombocythemia, somatic, 187950 (3)
SLC11A2 Anemia, hypochromic microcytic, with iron overload 1, 206100 (3)
SLCO1B1 Hyperbilirubinemia, Rotor type, digenic, 237450 (3)
SLCO1B3 Hyperbilirubinemia, Rotor type, digenic, 237450 (3)
SRGAP1 {Thyroid cancer, nonmedullary, 2}, 188470 (3)
SUOX Sulfite oxidase deficiency, 272300 (3)
TBK1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439 (3)
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8}, 617900 (3)
TBX3 Ulnar-mammary syndrome, 181450 (3)
TCTN2 Joubert syndrome 24, 616654 (3)
?Meckel syndrome 8, 613885 (3)
TMTC3 Lissencephaly 8, 617255 (3)
TNFRSF1A {Multiple sclerosis, susceptibility to, 5}, 614810 (3)
Periodic fever, familial, 142680 (3)
TPH2 {Unipolar depression, susceptibility to}, 608516 (3)
{Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (3)
UBE3B Kaufman oculocerebrofacial syndrome, 244450 (3)
VAMP1 Myasthenic syndrome, congenital, 25, 618323 (3)
Spastic ataxia 1, autosomal dominant, 108600 (3)
VDR ?Osteoporosis, involutional, 166710 (1)
Rickets, vitamin D-resistant, type IIA, 277440 (3)
VWF von Willebrand disease, type 1, 193400 (3)
von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3)
von Willibrand disease, type 3, 277480 (3)
WNK1 Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)
Pseudohypoaldosteronism, type IIC, 614492 (3)

Genes at Clinical Genomics Database

AAAS, ABCC9, ACADS, ADCY6, ANKLE2, AQP2, ART4, ATN1, ATP6V0A2, ATXN2, BHLHE41, CCND2, CD27, CD4, CDKN1B, CHD4, CNTN1, COL2A1, DDX11, DIP2B, DPY19L2, DUSP6, ERBB3, FGD4, GDF3, GNPTAB, GNS, GPD1, GRIN2B, GRIP1, GUCY2C, HAL, HNF1A, HPD, ITGA7, ITPR2, KCNA1, KCNA5, KERA, KIAA1033, KRAS, KRT1, KRT2, KRT4, KRT6A, KRT6B, KRT6C, KRT71, KRT74, KRT75, KRT81, KRT83, KRT86, LDHB, LRP1, LRP6, LRRK2, MED13L, MGP, MMAB, MMP19, MVK, MYBPC1, NUP107, P2RX2, PAH, PDE3A, PFKM, PHC1, POLE, PRICKLE1, PTPRO, RDH5, SART3, SCNN1A, SLC11A2, SLCO1B1, SLCO1B3, SUOX, TBK1, TBX3, TCTN2, TMPO, TNFRSF1A, UBE3B, VAMP1, VDR, VWF, WNK1,
AAAS Achalasia-addisonianism-alacrimia syndrome
ABCC9 Cardiomyopathy, dilated, 10
Atrial fibrillation, familial 12
Cantu syndrome
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of
ADCY6 Lethal congenital contracture syndrome 8
ANKLE2 Microcephaly, primary autosomal recessive, 16
AQP2 Diabetes insipidus, nephrogenic, autosomal
ART4 Blood group, Dombrock
ATN1 Dentatorubro-pallidoluysian atrophy
ATP6V0A2 Cutis laxa, autosomal recessive, type IIA
Wrinkly skin syndrome
ATXN2 Spinocerebellar ataxia 2
BHLHE41 Short sleeper
CCND2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
CD27 Lymphoproliferative syndrome 2
CD4 OKT4 epitope deficiency
CDKN1B Multiple endocrine neoplasia, type IV
CHD4 Schizophrenia
CNTN1 Myopathy, congenital, Compton-North
COL2A1 Stickler syndrome, type I
Rhegmatogenous retinal detachment, autosomal dominant
Czech dysplasia
Otospondylomegaepiphyseal dysplasia
Epiphyseal dysplasia, multiple, with myopia and deafness
Avascular necrosis of femoral head, primary
DDX11 Warsaw breakage syndrome
DIP2B Mental retardation, FRA12A type
DPY19L2 Spermatogenic failure 9
Globozoospermia
DUSP6 Hypogonadotropic hypogonadism 19, with or without anosmia
ERBB3 Lethal congenital contractural syndrome 2
FGD4 Charcot-Marie-Tooth disease, type 4H
GDF3 Microphthalmia, isolated 7
Microphthalmia, isolated, with coloboma 6
Klippel-Feil syndrome 3, autosomal dominant
Coloboma, ocular
GNPTAB Mucolipidosis III alpha/beta (Pseudo-Hurler polydstrophy)
Mucolipidosis II alpha/beta (I-cell disease)
GNS Mucopolysaccharidosis IIID (Sanfilippo syndrome D)
GPD1 Hypertriglyceridemia, transient infantile
GRIN2B Mental retardation, autosomal dominant 6
Epileptic encephalopathy, early infantile 27
GRIP1 Fraser syndrome
GUCY2C Diarrhea 6
Meconium ileus
HAL Histidinemia
HNF1A Renal cell carcinoma, nonpapillary clear cell
Liver adenomatosis
Maturity onset diabetes of the young, type III
HPD Tyrosinemia, type III
Hawksinuria
ITGA7 Muscular dystrophy, congenital, due to integrin alpha-7 deficiency
ITPR2 Anhidrosis, isolated, with normal sweat glands (Dann-Epstein-Sohar syndrome)
KCNA1 Episodic ataxia, type 1/myokymia syndrome
KCNA5 Atrial fibrillation, familial, 7
KERA Cornea plana 2, autosomal recessive
KIAA1033 Mental retardation, autosomal recessive 43
KRAS Noonan syndrome
Cardiofaciocutaneous syndrome
KRT1 Keratosis palmoplantaris striata III
Ichthyosis, cyclic, with epidermolytic hyperkeratosis
Ichthyosis histrix, Curth-Macklin type
Palmoplantar keratoderma, epidermolytic
Palmoplantar keratoderma, nonepidermolytic
Epidermolytic hyperkeratosis
KRT2 Ichthyosis bullosa of Siemens
Ichthyosis exfoliativa
KRT4 White sponge nevus 1
KRT6A Pachyonychia congenita 3
KRT6B Pachyonychia congenita 4
KRT6C Palmoplantar keratoderma, nonepidermolytic, focal or diffuse
KRT71 Hypotrichosis 13
KRT74 Ectodermal dysplasia 7, hair/nail type
Hypotrichosis 3
Woolly hair, autosomal dominant
KRT75 Pseudofolliculitis barbae
KRT81 Monilethrix
KRT83 Monilethrix
KRT86 Monilethrix
LDHB Lactate dehydrogenase B deficiency
LRP1 Schizophrenia
LRP6 Coronary artery disease, autosomal dominant 2
LRRK2 Parkinson disease 8
Dementia, Lewy body
MED13L Transposition of the great arteries, dextro-looped 1
Mental retardation and distinctive facial features with or without cardiac defects
Congenital heart defects and intellectual disability
Intellectual disability, autosomal recessive
MGP Keutel syndrome
MMAB Methylmalonic acidemia, cblB type
MMP19 Cavitary optic disc anomalies
MVK Mevalonic aciduria
Hyper-IgD syndrome
MYBPC1 Arthrogryposis, distal, type 1B
Lethal congenital contractural syndrome 4
NUP107 Nephrotic syndrome, type 11
P2RX2 Deafness, autosomal dominant 41
PAH Phenylketonuria
Hyperphenylalaninemia, non-PKU mild
PDE3A Hypertension with brachydactyly
PFKM Glycogen storage disease VII
PHC1 Primary microcephaly 11
POLE Colorectal cancer, susceptibility to, 12
Facial dysmorphism, immunodeficiency, livedo, and short stature syndrome (FILS syndrome)
PRICKLE1 Epilepsy, progressive myoclonic, 1B
PTPRO Nephrotic syndrome, type 6
RDH5 Fundus albipunctatus
SART3 Porokeratosis, disseminated superficial actinic, 1
SCNN1A Pseudohypoaldosteronism, type I
Bronchiectasis with or without elevated sweat chloride 2
SLC11A2 Anemia, hypochromic microcytic, with iron overload
SLCO1B1 Statin-induced myopathy
Hyperbilirubinemia, Rotor type, digenic
SLCO1B3 Hyperbilirubinemia, Rotor type, digenic
SUOX Sulfocysteinuria
TBK1 Herpes simplex encephalitis
TBX3 Ulnar-Mammary syndrome
TCTN2 Joubert syndrome 24
Meckel syndrome 8
TMPO Cardiomyopathy, dilated, 1T
TNFRSF1A Periodic fever, familial (TNF receptor-associated periodic syndrome)
UBE3B Blepharophimosis-Ptosis-Intellectual-Disability syndrome (Kaufman oculocerebrofacial syndrome)
VAMP1 Spastic ataxia 1, autosomal dominant
VDR Vitamin D-dependent rickets, type 2A
VWF von Willebrand disease, type 1
von Willebrand disease, type 2A
von Willebrand disease, type 3
WNK1 Pseudohypoaldosteronism, type IIC
Neuropathy, hereditary sensory and autonomic, type IIA

Genes at HGMD

Summary

Number of Variants: 882
Number of Genes: 399

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A2ML1
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View na12878 recessive 12 rs7308811
dbSNP Clinvar 		9020489 7781.2 A G PASS 0/1 497 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.85264 0.85260 0.22254 0.57 0.00 None None None None None None A2ML1|0.011663794|79.48%
View na12878 recessive 12 rs7308106
dbSNP Clinvar 		8995756 7740.62 A G PASS 0/1 342 SYNONYMOUS_CODING LOW SILENT 0.03734 0.03734 0.07673 None None None None None None A2ML1|0.011663794|79.48%
View na12878 recessive 12 rs1860927
dbSNP Clinvar 		9004512 23785.6 G A PASS 1/1 573 SYNONYMOUS_CODING LOW SILENT 0.86821 0.86820 0.19218 None None None None None None A2ML1|0.011663794|79.48%
View na12878 recessive 12 rs73040625
dbSNP Clinvar 		9016456 5602.44 C T PASS 0/1 298 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02256 0.02256 0.06096 0.24 0.07 None None None None None None A2ML1|0.011663794|79.48%
View na12878 recessive 12 rs1476910
dbSNP Clinvar 		9020912 8140.67 A G PASS 1/1 196 SYNONYMOUS_CODING LOW SILENT 0.67772 0.67770 0.25352 None None None None None None A2ML1|0.011663794|79.48%
View na12878 recessive 12 rs10219561
dbSNP Clinvar 		9016573 4394.72 A G PASS 1/1 111 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96785 0.96790 0.03189 0.54 0.00 None None None None None None A2ML1|0.011663794|79.48%
View na12878 recessive 12 rs11612600
dbSNP Clinvar 		9010671 2468.89 G A PASS 0/1 137 SYNONYMOUS_CODING LOW SILENT 0.25439 0.25440 0.30652 None None None None None None A2ML1|0.011663794|79.48%
View na12878 recessive 12 rs1558526
dbSNP Clinvar 		9009820 2581.73 G A PASS 0/1 162 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11122 0.11120 0.18966 0.00 1.00 None None None None None None A2ML1|0.011663794|79.48%
View na12878 recessive 12 rs1860926
dbSNP Clinvar 		9004892 3991.11 C A PASS 1/1 101 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96605 0.96610 0.03530 1.00 0.00 None None None None None None A2ML1|0.011663794|79.48%

AAAS
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 na12878 recessive 12 rs1546808
dbSNP Clinvar 		53703021 7636.14 G A PASS 1/1 179 SYNONYMOUS_CODING LOW SILENT 0.91534 0.91530 0.09373 None None None None None None AAAS|0.160423573|41.47%
View na12878 recessive 12 rs11540353
dbSNP Clinvar 		53708910 7545.35 A G PASS 1/1 183 SYNONYMOUS_CODING LOW SILENT 0.03634 0.03634 0.07573 None None None None None None AAAS|0.160423573|41.47%

ABCC9
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 na12878 recessive 12 rs10770865
dbSNP Clinvar 		22063115 11599.2 A G PASS 1/1 269 SYNONYMOUS_CODING LOW SILENT 0.99720 0.99720 0.00354 None None None None None None ABCC9|0.261420458|30.64%

ACACB
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 na12878 recessive 12 rs11065772
dbSNP Clinvar 		109617865 4673.26 T C PASS 1/1 122 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.67732 0.67730 0.25996 None None None None None None ACACB|0.108212697|49.54%
View na12878 recessive 12 rs16940029
dbSNP Clinvar 		109617728 5075.31 A G PASS 0/1 273 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07887 0.07887 0.08173 1.00 0.00 None None None None None None ACACB|0.108212697|49.54%
View na12878 recessive 12 rs17848814
dbSNP Clinvar 		109644616 1663.28 C T PASS 0/1 145 SYNONYMOUS_CODING LOW SILENT 0.08986 0.08986 0.09350 None None None None None None ACACB|0.108212697|49.54%
View na12878 recessive 12 rs7135947
dbSNP Clinvar 		109629457 11220.9 C T PASS 0/1 549 SYNONYMOUS_CODING LOW SILENT 0.38139 0.38140 0.44503 None None None None None None ACACB|0.108212697|49.54%
View na12878 recessive 12 rs2241220
dbSNP Clinvar 		109675029 23727.7 T C PASS 1/1 579 SYNONYMOUS_CODING LOW SILENT 0.77915 0.77920 0.19699 None None None None None None ACACB|0.108212697|49.54%
View na12878 recessive 12 rs2075260
dbSNP Clinvar 		109696838 3165.07 G A PASS 1/1 76 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.73882 0.73880 0.21898 1.00 0.00 None None None None None None ACACB|0.108212697|49.54%

ACADS
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 na12878 recessive 12 rs3914
dbSNP Clinvar 		121174899 865.26 T C PASS 1/1 24 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.59066 0.59070 0.49323 None None None None None None ACADS|0.070436549|57.39%
View na12878 recessive 12 rs3915
dbSNP Clinvar 		121176679 6234.66 C T PASS 1/1 149 SYNONYMOUS_CODING LOW SILENT 0.67312 0.67310 0.40804 None None None None None None ACADS|0.070436549|57.39%

ACSS3
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 na12878 recessive 12 rs61742651
dbSNP Clinvar 		81610702 4189.86 G A PASS 0/1 209 SYNONYMOUS_CODING LOW SILENT 0.01617 0.01617 0.03022 None None None None None None ACSS3|0.295131278|28.03%

ADCY6
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 na12878 recessive 12 rs2453486
dbSNP Clinvar 		49177113 850.99 T G PASS 0/1 66 SYNONYMOUS_CODING LOW SILENT 0.29213 0.29210 0.26965 None None None None None None ADCY6|0.441849668|18.58%

AGAP2
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 na12878 recessive 12 rs17852479
dbSNP Clinvar 		58126234 428.31 C A PASS 0/1 30 SYNONYMOUS_CODING LOW SILENT 0.21566 0.21570 0.31812 None None None None None None AGAP2|0.196777896|37.07%

AKAP3
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 na12878 recessive 12 rs7960207
dbSNP Clinvar 		4737318 15463.2 A G PASS 1/1 409 SYNONYMOUS_CODING LOW SILENT 0.81749 0.81750 0.12133 None None None None None None AKAP3|0.022604217|72.88%
View na12878 recessive 12 rs1990312
dbSNP Clinvar 		4736495 4149.07 C T PASS 1/1 97 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.98283 0.98280 0.02299 1.00 0.00 None None None None None None AKAP3|0.022604217|72.88%
View na12878 recessive 12 rs11063265
dbSNP Clinvar 		4736631 2266.16 A G PASS 1/1 59 SYNONYMOUS_CODING LOW SILENT 0.98283 0.98280 0.02314 None None None None None None AKAP3|0.022604217|72.88%
View na12878 recessive 12 rs11063266
dbSNP Clinvar 		4736677 6468.65 G C PASS 1/1 136 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.91154 0.91150 0.05090 0.32 0.00 None None None None None None AKAP3|0.022604217|72.88%
View na12878 recessive 12 rs10774251
dbSNP Clinvar 		4736690 7754.91 A G PASS 1/1 181 SYNONYMOUS_CODING LOW SILENT 0.97264 0.97260 0.03283 None None None None None None AKAP3|0.022604217|72.88%
View na12878 recessive 12 rs2072355
dbSNP Clinvar 		4737715 11849.9 C T PASS 1/1 275 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.70547 0.70550 0.26203 1.00 0.00 None None None None None None AKAP3|0.022604217|72.88%
View na12878 recessive 12 rs2072356
dbSNP Clinvar 		4737459 13325.9 C T PASS 1/1 311 SYNONYMOUS_CODING LOW SILENT 0.70727 0.70730 0.26196 None None None None None None AKAP3|0.022604217|72.88%
View na12878 recessive 12 rs7972737
dbSNP Clinvar 		4737042 15371.1 G A PASS 1/1 368 SYNONYMOUS_CODING LOW SILENT 0.28455 0.28450 0.37567 None None None None None None AKAP3|0.022604217|72.88%

ALDH1L2
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 na12878 recessive 12 rs4964317
dbSNP Clinvar 		105433523 20611.4 T A PASS 1/1 497 SYNONYMOUS_CODING LOW SILENT 0.31050 0.31050 0.31808 None None None None None None C12orf45|0.009401339|81.38%,ALDH1L2|0.155583388|42.19%
View na12878 recessive 12 rs11112330
dbSNP Clinvar 		105434467 2403.63 C T PASS 1/1 58 SYNONYMOUS_CODING LOW SILENT 0.30491 0.30490 0.31040 None None None None None None C12orf45|0.009401339|81.38%,ALDH1L2|0.155583388|42.19%

ALG10B
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 na12878 recessive 12 rs6582584
dbSNP Clinvar 		38712142 19878.6 C G PASS 1/1 406 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96665 0.96670 0.03383 1.00 0.00 None None None None None None ALG10B|0.041656471|65.23%

AMIGO2
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 na12878 recessive 12 rs2269828
dbSNP Clinvar 		47471439 7833.79 G A PASS 0/1 402 SYNONYMOUS_CODING LOW SILENT 0.22165 0.22160 0.27249 None None None None None None AMIGO2|0.036937245|66.81%

ANKLE2
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 na12878 recessive 12 rs7968520
dbSNP Clinvar 		133331459 1766.22 G C PASS 0/1 82 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10264 0.10260 0.11191 0.37 0.13 None None None None None None ANKLE2|0.0109485|80.11%

ANKRD13A
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 na12878 recessive 12 rs2302689
dbSNP Clinvar 		110456175 2411.85 A G PASS 0/1 144 SYNONYMOUS_CODING LOW SILENT 0.31150 0.31150 0.31140 None None None None None None ANKRD13A|0.173001404|39.94%

ANKRD33
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 na12878 recessive 12 rs3180417
dbSNP Clinvar 		52285086 1337.22 G A PASS 0/1 71 SYNONYMOUS_CODING LOW SILENT 0.14697 0.14700 0.15570 None None None None None None ANKRD33|0.021337609|73.52%
View na12878 recessive 12 rs34494292
dbSNP Clinvar 		52284500 923.18 A G PASS 0/1 68 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14896 0.14900 0.15601 0.15 0.00 None None None None None None ANKRD33|0.021337609|73.52%

APOBEC1
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 na12878 recessive 12 rs2302515
dbSNP Clinvar 		7805236 5589.16 C G PASS 1/1 115 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.65915 0.65910 0.22128 0.46 0.00 None None None None None None APOBEC1|0.005430298|85.3%
View na12878 recessive 12 rs10431309
dbSNP Clinvar 		7803646 2718.54 G A PASS 0/1 174 SYNONYMOUS_CODING LOW SILENT 0.24201 0.24200 0.20844 None None None None None None APOBEC1|0.005430298|85.3%

APPL2
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 na12878 recessive 12 rs935241
dbSNP Clinvar 		105568122 5798.53 G A PASS 1/1 136 SYNONYMOUS_CODING LOW SILENT 0.93411 0.93410 0.13778 None None None None None None APPL2|0.118101014|47.72%
View na12878 recessive 12 rs2293643
dbSNP Clinvar 		105600935 2899.1 G A PASS 0/1 163 SYNONYMOUS_CODING LOW SILENT 0.18351 0.18350 0.16023 None None None None None None APPL2|0.118101014|47.72%
View na12878 recessive 12 rs2272495
dbSNP Clinvar 		105583877 2731.88 G A FDRtranche1.00to10.00+ 0/1 189 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.18730 0.18730 0.22 0.05 None None None None None None APPL2|0.118101014|47.72%
View na12878 recessive 12 rs935240
dbSNP Clinvar 		105568176 14836.5 G A PASS 1/1 345 SYNONYMOUS_CODING LOW SILENT 0.93411 0.93410 0.13778 None None None None None None APPL2|0.118101014|47.72%

AQP2
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 na12878 recessive 12 rs426496
dbSNP Clinvar 		50348078 648.93 T C PASS 0/1 45 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.66713 0.66710 0.30671 None None None None None None AQP2|0.155383896|42.24%

ARF3
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 na12878 recessive 12 rs12122
dbSNP Clinvar 		49334762 15385.8 G C PASS 1/1 327 SYNONYMOUS_CODING LOW SILENT 0.92312 0.92310 0.09227 None None None None None None ARF3|0.720861562|7.96%

ARHGAP9
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 na12878 recessive 12 rs11544238
dbSNP Clinvar 		57870155 963.66 A C PASS 0/1 88 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.37021 0.37020 0.48939 0.20 0.00 None None None None None None ARHGAP9|0.04826806|63.22%,MARS|0.751967574|7.05%

ARHGDIB
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 na12878 recessive 12 rs4703
dbSNP Clinvar 		15095558 22925.4 C G PASS 1/1 474 SYNONYMOUS_CODING LOW SILENT 0.48183 0.48180 0.49439 None None None None None None ARHGDIB|0.131635037|45.66%
View na12878 recessive 12 rs2430711
dbSNP Clinvar 		15103605 7526.72 A G PASS 1/1 193 SYNONYMOUS_CODING LOW SILENT 1.00000 1.00000 0.00008 None None None None None None ARHGDIB|0.131635037|45.66%

ARHGEF25
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 na12878 recessive 12 rs1564374
dbSNP Clinvar 		58010163 1420.7 A G PASS 0/1 81 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63019 0.63020 0.44610 1.00 0.00 None None None None None None ARHGEF25|0.10608037|49.98%

ART4
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 na12878 recessive 12 rs3088189
dbSNP Clinvar 		14993608 3020.93 G A PASS 0/1 180 SYNONYMOUS_CODING LOW SILENT 0.29273 0.29270 0.35591 None None None None None None C12orf60|0.003562818|87.67%,ART4|0.006462191|84.1%
View na12878 recessive 12 rs1861698
dbSNP Clinvar 		14993854 9148.25 A G PASS 0/1 419 SYNONYMOUS_CODING LOW SILENT 0.25619 0.25620 0.34284 None None None None None None C12orf60|0.003562818|87.67%,ART4|0.006462191|84.1%
View na12878 recessive 12 rs11276
dbSNP Clinvar 		14993439 5682.2 C T PASS 0/1 336 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29273 0.29270 0.35599 1.00 0.00 None None None None None None C12orf60|0.003562818|87.67%,ART4|0.006462191|84.1%

ASIC1
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 na12878 recessive 12 rs653576
dbSNP Clinvar 		50452708 2993.43 C G PASS 1/1 68 SYNONYMOUS_CODING LOW SILENT 0.92752 0.92750 0.03721 None None None None None None ASIC1|0.372226278|22.59%

ASUN
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 na12878 recessive 12 rs3210635
dbSNP Clinvar 		27064232 1830.51 C T PASS 0/1 102 SYNONYMOUS_CODING LOW SILENT 0.57927 0.57930 0.48731 None None None None None None ASUN|0.615904164|11.26%

ATF7IP
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 na12878 recessive 12 rs199961592
dbSNP Clinvar 		14613917 172.35 C A FDRtranche1.00to10.00+ 0/1 73 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.88 None None None None None None ATF7IP|0.114905203|48.34%
View na12878 recessive 12 rs3213764
dbSNP Clinvar 		14587301 6977.98 A G PASS 0/1 309 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.43950 0.43950 0.42242 0.01 0.74 None None None None None None ATF7IP|0.114905203|48.34%
View na12878 recessive 12 rs73058771
dbSNP Clinvar 		14610199 3181.72 C T PASS 0/1 196 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00020 0.00020 0.00015 0.10 0.56 None None None None None None ATF7IP|0.114905203|48.34%
View na12878 recessive 12 rs2231909
dbSNP Clinvar 		14577892 2459.54 A T PASS 0/1 137 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.32129 0.32130 0.30778 0.12 0.00 None None None None None None ATF7IP|0.114905203|48.34%

ATN1
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 na12878 recessive 12 rs7969685
dbSNP Clinvar 		7047143 44.01 C A LowQual 1/1 2 SYNONYMOUS_CODING LOW SILENT 0.16254 0.16250 0.26462 None None None None None None ATN1|0.702926343|8.41%

ATP2B1
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 na12878 recessive 12 rs1050395
dbSNP Clinvar 		90028901 10705.2 T C PASS 0/1 497 SYNONYMOUS_CODING LOW SILENT 0.12081 0.12080 0.18368 None None None None None None ATP2B1|0.788695463|6.13%

ATP6V0A2
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 na12878 recessive 12 rs7135542
dbSNP Clinvar 		124229429 2098.49 T C PASS 0/1 139 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.79952 0.79950 0.30463 None None None None None None ATP6V0A2|0.124260234|46.77%
View na12878 recessive 12 rs1139789
dbSNP Clinvar 		124209332 1471.68 T C PASS 0/1 118 SYNONYMOUS_CODING LOW SILENT 0.75100 0.75100 0.35338 None None None None None None ATP6V0A2|0.124260234|46.77%
View na12878 recessive 12 rs1399961
dbSNP Clinvar 		124210782 8001.02 T C PASS 0/1 417 SYNONYMOUS_CODING LOW SILENT 0.74980 0.74980 0.36014 None None None None None None ATP6V0A2|0.124260234|46.77%

ATXN2
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 na12878 recessive 12 rs4098854
dbSNP Clinvar 		112036797 14.74 C T ESPStandard;LowQual 0/1 1 SYNONYMOUS_CODING LOW SILENT 0.65675 0.65670 None None None None None None ATXN2|0.872313714|4.16%

AVIL
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 na12878 recessive 12 rs2172521
dbSNP Clinvar 		58204283 14123.1 T C PASS 1/1 335 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99980 0.99980 0.32 0.00 None None None None None None AVIL|0.110773027|49.04%

AVPR1A
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 na12878 recessive 12 rs1042615
dbSNP Clinvar 		63544209 646.62 A G PASS 0/1 42 SYNONYMOUS_CODING LOW SILENT 0.65076 0.65080 0.33764 None None None None None None AVPR1A|0.145508661|43.64%

B3GNT4
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 na12878 recessive 12 rs7136356
dbSNP Clinvar 		122689181 2115.5 C G PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.45487 0.45490 0.35489 0.51 0.00 None None None None None None B3GNT4|0.02304241|72.69%
View na12878 recessive 12 rs4758675
dbSNP Clinvar 		122691738 9152.33 C A PASS 1/1 230 SYNONYMOUS_CODING LOW SILENT 0.99361 0.99360 0.00738 None None None None None None B3GNT4|0.02304241|72.69%

B4GALNT3
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 na12878 recessive 12 rs11063529
dbSNP Clinvar 		657404 5772.34 G A PASS 0/1 302 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.17951 0.17950 0.21221 0.17 0.04 None None None None None None B4GALNT3|0.028265322|70.31%
View na12878 recessive 12 rs758790
dbSNP Clinvar 		662448 4059.84 T C PASS 1/1 105 SYNONYMOUS_CODING LOW SILENT 0.84724 0.84720 0.26572 None None None None None None B4GALNT3|0.028265322|70.31%
View na12878 recessive 12 rs1056008
dbSNP Clinvar 		662838 261.19 T C PASS 0/1 15 SYNONYMOUS_CODING LOW SILENT 0.28435 0.28430 0.30123 None None None None None None B4GALNT3|0.028265322|70.31%
View na12878 recessive 12 rs7298766
dbSNP Clinvar 		661656 1171.29 A G PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.27217 0.27220 0.31424 0.14 0.25 None None None None None None B4GALNT3|0.028265322|70.31%

BCL2L14
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 na12878 recessive 12 rs11054683
dbSNP Clinvar 		12247616 7027.54 T C PASS 0/1 367 SYNONYMOUS_CODING LOW SILENT 0.16014 0.16010 0.23443 None None None None None None BCL2L14|0.005004666|85.81%
View na12878 recessive 12 rs879732
dbSNP Clinvar 		12240199 3799.8 C T PASS 1/1 89 SYNONYMOUS_CODING LOW SILENT 0.46486 0.46490 0.48032 None None None None None None BCL2L14|0.005004666|85.81%

BEST3
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 na12878 recessive 12 rs775429
dbSNP Clinvar 		70091432 7050.93 T C PASS 1/1 167 SYNONYMOUS_CODING LOW SILENT 0.97324 0.97320 0.02361 None None None None None None BEST3|0.093001289|52.62%

BHLHE41
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 na12878 recessive 12 rs11048413
dbSNP Clinvar 		26275555 49.01 G A ESPStandard;LowQual 1/1 2 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.37061 0.37060 0.32 0.00 None None None None None None BHLHE41|0.032118542|68.55%,SSPN|0.102404332|50.72%

BIN2
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 na12878 recessive 12 rs7954976
dbSNP Clinvar 		51681903 12114.3 T C PASS 1/1 285 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.83447 0.83450 0.19537 1.00 0.00 None None None None None None BIN2|0.023359336|72.5%
View na12878 recessive 12 rs3210837
dbSNP Clinvar 		51685831 2195.25 T C PASS 1/1 55 SYNONYMOUS_CODING LOW SILENT 0.78115 0.78120 0.22928 None None None None None None BIN2|0.023359336|72.5%

BTBD11
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 na12878 recessive 12 rs12303478
dbSNP Clinvar 		108051406 6490.98 G A PASS 0/1 337 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10483 0.10480 0.11756 0.16 0.01 None None None None None None BTBD11|0.286570373|28.6%
View na12878 recessive 12 rs9919712
dbSNP Clinvar 		108035903 8788.6 T C PASS 1/1 224 SYNONYMOUS_CODING LOW SILENT 0.19569 0.19570 0.23566 None None None None None None BTBD11|0.286570373|28.6%
View na12878 recessive 12 rs202066069
dbSNP Clinvar 		108012053 74.97 G C FDRtranche1.00to10.00+ 0/1 42 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.19 0.42 None None None None None None BTBD11|0.286570373|28.6%

C12orf10
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 na12878 recessive 12 rs1534282
dbSNP Clinvar 		53700848 7023.94 C T PASS 1/1 165 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96885 0.96880 0.03522 1.00 0.00 None None None None None None C12orf10|0.308047855|26.99%
View na12878 recessive 12 rs711316
dbSNP Clinvar 		53700860 4448.63 A G PASS 1/1 112 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.94968 0.94970 0.06020 0.37 0.00 None None None None None None C12orf10|0.308047855|26.99%
View na12878 recessive 12 rs1534283
dbSNP Clinvar 		53693533 1655.04 A C PASS 1/1 41 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.94968 0.94970 0.06006 0.21 0.00 None None None None None None C12orf10|0.308047855|26.99%
View na12878 recessive 12 rs1534284
dbSNP Clinvar 		53693532 1401.46 A G PASS 1/1 39 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.94968 0.94970 0.05984 1.00 0.00 None None None None None None C12orf10|0.308047855|26.99%

C12orf29
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 na12878 recessive 12 rs9262
dbSNP Clinvar 		88440676 14599.5 G C PASS 0/1 584 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.51058 0.51060 0.46917 1.00 0.00 None None None None None None C12orf29|0.429935486|19.14%

C12orf43
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 na12878 recessive 12 rs2258227
dbSNP Clinvar 		121454257 11449.8 T A PASS 1/1 280 START_GAINED LOW 0.78474 0.78470 0.25142 None None None None None None C12orf43|0.005778578|84.86%
View na12878 recessive 12 rs11537857
dbSNP Clinvar 		121454148 754.45 C T PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03395 0.03395 0.04044 0.26 0.01 None None None None None None C12orf43|0.005778578|84.86%
View na12878 recessive 12 rs11537856
dbSNP Clinvar 		121442883 180.11 G A PASS 0/1 15 SYNONYMOUS_CODING LOW SILENT 0.03395 0.03395 0.03647 None None None None None None C12orf43|0.005778578|84.86%
View na12878 recessive 12 rs73214128
dbSNP Clinvar 		121442241 4538.64 C T FDRtranche1.00to10.00+ 0/1 248 SYNONYMOUS_CODING LOW SILENT 0.03994 0.03994 0.04114 None None None None None None C12orf43|0.005778578|84.86%

C12orf45
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 na12878 recessive 12 rs1129593
dbSNP Clinvar 		105380152 1094.56 A C PASS 0/1 74 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.40355 0.40360 0.33423 0.62 0.00 None None None None None None C12orf45|0.009401339|81.38%

C12orf49
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 na12878 recessive 12 rs10507274
dbSNP Clinvar 		117160976 5348.76 T C PASS 0/1 271 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02416 0.02416 0.04975 0.36 0.00 None None None None None None C12orf49|0.115075741|48.31%
View na12878 recessive 12 rs73220422
dbSNP Clinvar 		117175608 1452.75 C T PASS 0/1 98 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00919 0.00919 0.02076 0.11 0.71 None None None None None None C12orf49|0.115075741|48.31%

C12orf5
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 na12878 recessive 12 rs75781974
dbSNP Clinvar 		4461695 63.45 A C FDRtranche1.00to10.00+ 0/1 164 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07 0.07 None None None None None None TIGAR|0.017408746|75.62%

C12orf54
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 na12878 recessive 12 rs9268
dbSNP Clinvar 		48888689 6747.46 C G PASS 1/1 141 SYNONYMOUS_CODING LOW SILENT 0.31689 0.31690 0.49124 None None None None None None C12orf54|0.003494999|87.79%
View na12878 recessive 12 rs11458
dbSNP Clinvar 		48888594 11351.7 C T PASS 1/1 262 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22704 0.22700 0.33984 0.17 0.03 None None None None None None C12orf54|0.003494999|87.79%

C12orf55
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 na12878 recessive 12 rs11108643
dbSNP Clinvar 		97098549 2371.46 T C PASS 1/1 56 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.82069 0.82070 0.22872 0.44 0.00 None None None None None None CFAP54|0.043483617|64.67%
View na12878 recessive 12 rs7968231
dbSNP Clinvar 		97102578 1990.33 G A PASS 1/1 48 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.91853 0.91850 0.14434 1.00 0.00 None None None None None None CFAP54|0.043483617|64.67%