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+ Genes 685

Genes:
AAK1, ABCA12, ABCB11, ABCB6, ABCG5, ABCG8, ABHD1, AC008271.1, AC012493.2, AC016757.3, AC017028.1, AC017104.2, AC062017.1, AC064874.1, AC074091.13, AC079354.1, AC079612.1, AC093802.1, AC104667.3, AC104809.3, AC112715.2, ACKR3, ACOXL, ACP1, ACSL3, ACTG2, ACTR1B, ACVR1, ACVR1C, ADAM23, ADCY3, ADI1, ADRA2B, AFF3, AFTPH, AGAP1, AGBL5, AGFG1, AGXT, ALK, ALLC, ALMS1, ALPP, ALPPL2, ALS2, ALS2CR11, ALS2CR12, AMER3, ANAPC1, ANKAR, ANKMY1, ANKRD30BL, ANKRD36, ANKRD36C, ANKRD44, ANKRD53, ANO7, ANTXR1, ANXA4, AOX1, APLF, APOB, AQP12A, AQP12B, ARHGAP25, ARHGEF33, ARHGEF4, ARMC9, ASAP2, ASIC4, ASNSD1, ASPRV1, ASTL, ATAD2B, ATG4B, ATG9A, ATL2, ATOH8, ATP6V1B1, ATP6V1C2, ATRAID, BARD1, BAZ2B, BCL11A, BCL2L11, BCS1L, BIRC6, BRE, C1QL2, C2orf16, C2orf40, C2orf42, C2orf49, C2orf54, C2orf57, C2orf62, C2orf70, C2orf71, C2orf72, C2orf73, C2orf76, C2orf80, C2orf82, C2orf83, C2orf88, CAD, CALCRL, CAPG, CAPN10, CAPN13, CAPN14, CARF, CASP10, CASP8, CCDC108, CCDC115, CCDC138, CCDC141, CCDC148, CCDC74A, CCDC74B, CCDC85A, CCDC88A, CCDC93, CCNT2, CD207, CD8B, CEBPZ, CENPO, CERKL, CFLAR, CGREF1, CH17-132F21.1, CHCHD5, CHPF, CHRND, CHRNG, CHST10, CIB4, CKAP2L, CLHC1, CLIP4, CMPK2, CNOT11, CNPPD1, CNRIP1, CNTNAP5, COL3A1, COL4A3, COL4A4, COL5A2, COL6A3, COMMD1, COQ10B, COX7A2L, CPO, CPS1, CRIM1, CRYGB, CRYGD, CSRNP3, CTDSP1, CTLA4, CTNNA2, CWC22, CXCR1, CXCR2, CXXC11, CYBRD1, CYP20A1, CYP4F31P, D2HGDH, DAPL1, DARS, DAW1, DBI, DCDC2C, DCTN1, DDX1, DDX18, DES, DHX57, DIRC3, DNAH6, DNAH7, DNAJC27, DNMT3A, DNPEP, DPP10, DPP4, DPYSL5, DRC1, DUSP11, DUSP28, DYNC2LI1, DYSF, DYTN, ECEL1, EDAR, EFHD1, EFR3B, EHBP1, EIF2AK3, EIF5B, ELMOD3, EMILIN1, EML4, EML6, EMX1, EPB41L5, EPCAM, EPT1, ERBB4, ESPNL, ETAA1, EXOC6B, FAM110C, FAM134A, FAM136A, FAM161A, FAM171B, FAM178B, FAM179A, FAM228A, FAM228B, FANCL, FARP2, FARSB, FASTKD1, FBXO36, FBXO41, FEZ2, FHL2, FMNL2, FN1, FOXD4L1, FOXN2, FSHR, FSIP2, FZD5, G6PC2, GAD1, GAL3ST2, GALNT13, GALNT14, GALNT5, GAREML, GCA, GCC2, GCFC2, GDF7, GEMIN6, GEN1, GGCX, GIGYF2, GLI2, GNLY, GORASP2, GPAT2, GPATCH11, GPC1, GPD2, GPN1, GPR1, GPR113, GPR148, GPR35, GPR39, GPR45, GPR75, GRB14, GREB1, GTDC1, GTF2A1L, GTF3C2, GYPC, HAAO, HADHB, HDAC4, HDLBP, HEATR5B, HECW2, HIBCH, HK2, HNMT, HOXD1, HOXD13, HOXD3, HOXD4, HOXD9, HS1BP3, HS6ST1, HSPD1, IAH1, ICA1L, IFIH1, IGFBP2, IGFBP5, IGKV1-27, IGKV1-37, IGKV1-5, IGKV1-8, IGKV1-9, IGKV1D-16, IGKV1D-17, IGKV2-24, IGKV2-30, IGKV2D-26, IGKV2D-28, IGKV2D-29, IGKV3-7, IGKV3D-11, IGKV3OR2-268, IGKV6-21, IHH, IKZF2, IL1F10, IL1RL1, IL36A, IL37, ILKAP, IMMT, IMP4, INHA, INO80D, INPP1, INPP5D, IQCA1, IRS1, ITGA4, ITGA6, ITGAV, ITGB6, ITM2C, KCNE4, KCNJ13, KCNK12, KCNS3, KCTD18, KDM3A, KHK, KIAA1841, KIDINS220, KIF1A, KIF3C, KLF11, KLF7, KLHL23, KLHL29, KLHL30, LAPTM4A, LBX2, LCT, LHCGR, LIMS2, LINC01118, LIPT1, LONRF2, LOXL3, LPIN1, LRP1B, LRP2, LRPPRC, LRRFIP1, LTBP1, LY75-CD302, MALL, MAP2, MAP3K19, MAP4K3, MAPRE3, MARCH7, MARCO, MAT2A, MCEE, MDH1B, MERTK, METTL21A, METTL8, MFF, MFSD6, MLPH, MLTK, MMADHC, MOGS, MPP4, MPV17, MREG, MROH2A, MRPL19, MRPL30, MRPL35, MRPS9, MSH2, MSH6, MTERFD2, MTIF2, MXD1, MYEOV2, MYO1B, MYO3B, MYO7B, MYT1L, MZT2A, MZT2B, NAGK, NBAS, NBEAL1, NCKAP1, NCKAP5, NCL, NCOA1, NDUFA10, NDUFS1, NEB, NEU2, NEU4, NEUROD1, NFU1, NGEF, NHEJ1, NMI, NMS, NMUR1, NOL10, NOSTRIN, NPAS2, NPHP1, NR4A2, NRP2, NRXN1, NT5C1B, NT5DC4, NTSR2, NUP35, NYAP2, OBSL1, OR6B2, OR6B3, OSBPL6, OSGEPL1, OTOF, OXER1, PAIP2B, PARD3B, PASK, PAX3, PCDP1, PCYOX1, PDCD1, PDCL3, PDE11A, PDIA6, PELI1, PER2, PID1, PIKFYVE, PKP4, PLA2R1, PLB1, PLCD4, PLCL1, PLEK, PLEKHA3, PLEKHB2, PLEKHH2, PLEKHM3, PLGLB1, PNO1, POLE4, POLR1A, POLR1B, POLR2D, POTEE, POTEF, POTEI, POTEJ, PPIG, PPP1CB, PPP3R1, PREB, PRKD3, PROC, PROM2, PRR21, PRSS56, PSD4, PTH2R, PTMA, PTPN4, PUS10, PXDN, R3HDM1, RAB11FIP5, RAB17, RAB3GAP1, RAB6C, RAD51AP2, RAMP1, RANBP2, RAPGEF4, RBM43, RDH14, REEP1, REG1B, REG3A, REG3G, RETSAT, REV1, RFTN2, RFX8, RGPD2, RGPD3, RGPD4, RGPD8, RHOQ, RIF1, RMDN2, RMND5A, RNASEH1, RNF144A, RNF149, RNF181, RNF25, ROCK2, RP11-507M3.1, RRM2, RTN4, RUFY4, SAG, SAP130, SATB2, SCLY, SCN1A, SCN3A, SCN7A, SCN9A, SCRN3, SCTR, SDC1, SDPR, SERPINE2, SESTD1, SF3B1, SF3B14, SFT2D3, SFTPB, SGOL2, SGPP2, SH3BP4, SH3YL1, SIX3, SLC11A1, SLC1A4, SLC20A1, SLC25A12, SLC3A1, SLC40A1, SLC4A3, SLC4A5, SLC5A6, SLC9A4, SMARCAL1, SMEK2, SMPD4, SMYD1, SNED1, SNRNP200, SNTG2, SOCS5, SOWAHC, SP100, SP110, SP140, SP140L, SP9, SPAG16, SPATA3, SPEG, SPHKAP, SPTBN1, SRBD1, SSFA2, ST6GAL2, STK11IP, STK16, STK17B, STK36, STON1, STON1-GTF2A1L, STRADB, SULT1C3, TACR1, TAF1B, TANC1, TBC1D8, TCF7L1, TDRD15, TEKT4, TET3, TFCP2L1, TGFBRAP1, TGOLN2, THADA, THAP4, THNSL2, THSD7B, TIGD1, TM4SF20, TMBIM1, TMEM131, TMEM17, TMEM177, TMEM18, TMEM182, TMEM185B, TMEM194B, TMEM198, TMEM247, TMEM37, TMEM87B, TNFAIP6, TNS1, TPO, TPRKB, TRAF3IP1, TRAK2, TRAPPC12, TRIM43, TRIP12, TRMT61B, TRPM8, TSPYL6, TSSC1, TTC21B, TTC27, TTC30A, TTC30B, TTC7A, TTLL4, TTN, TUBA3D, TUBA3E, UBE2F, UBR3, UBXN4, UGGT1, UGP2, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UNC80, USP34, USP37, USP39, USP40, VAMP5, VAMP8, VAX2, VPS54, VWA3B, WDR12, WDR33, WDR35, WDR43, WDR75, WDR92, WDSUB1, WIPF1, XDH, XRCC5, YPEL5, ZAP70, ZC3H15, ZDBF2, ZEB2, ZFP36L2, ZNF142, ZNF2, ZNF512, ZNF638, ZNF804A,

+ Genes associated with diseases 159

Genes at Omim

ABCA12, ABCB11, ABCB6, ABCG5, ABCG8, ACTG2, ACVR1, ADCY3, ADRA2B, AGBL5, AGXT, ALK, ALMS1, ALS2, ANTXR1, APOB, ARMC9, BARD1, BCL11A, BCS1L, CAD, CAPN10, CASP10, CASP8, CCDC115, CCDC88A, CD207, CERKL, CHRND, CHRNG, CKAP2L, COL3A1, COL4A3, COL4A4, COL5A2, COL6A3, CPS1, CRYGB, CRYGD, CTLA4, CTNNA2, CXCR1, D2HGDH, DARS, DCTN1, DES, DNMT3A, DRC1, DYNC2LI1, DYSF, ECEL1, EDAR, EHBP1, EIF2AK3, ELMOD3, EPCAM, ERBB4, FAM161A, FN1, FSHR, FSIP2, GAD1, GGCX, GIGYF2, GLI2, GPD2, GYPC, HAAO, HADHB, HECW2, HIBCH, HNMT, HOXD13, HS6ST1, HSPD1, IFIH1, IHH, IRS1, ITGA6, ITGB6, KCNJ13, KHK, KIDINS220, KIF1A, KLF11, LCT, LHCGR, LIMS2, LIPT1, LPIN1, LRP2, LRPPRC, MCEE, MERTK, MFF, MLPH, MOGS, MPV17, MSH2, MSH6, MYT1L, NBAS, NDUFA10, NDUFS1, NEB, NEUROD1, NFU1, NHEJ1, NPHP1, NRXN1, OBSL1, OTOF, PAX3, PDCD1, PDE11A, PER2, PIKFYVE, POLR1A, PPP1CB, PROC, PRSS56, PXDN, RAB3GAP1, RANBP2, REEP1, RNASEH1, SAG, SATB2, SCN1A, SCN3A, SCN9A, SF3B1, SFTPB, SIX3, SLC1A4, SLC25A12, SLC3A1, SLC40A1, SMARCAL1, SNRNP200, SP110, SPEG, TM4SF20, TPO, TPRKB, TRAF3IP1, TRAPPC12, TRIP12, TTC21B, TTC7A, TTN, TUBA3D, UNC80, VWA3B, WDR35, WIPF1, XDH, ZAP70, ZEB2,
ABCA12 Ichthyosis, congenital, autosomal recessive 4A, 601277 (3)
Ichthyosis, congenital, autosomal recessive 4B (harlequin), 242500 (3)
ABCB11 Cholestasis, benign recurrent intrahepatic, 2, 605479 (3)
Cholestasis, progressive familial intrahepatic 2, 601847 (3)
ABCB6 Dyschromatosis universalis hereditaria 3, 615402 (3)
Microphthalmia, isolated, with coloboma 7, 614497 (3)
Pseudohyperkalemia, familial, 2, due to red cell leak, 609153 (3)
[Blood group, Langereis system], 111600 (3)
ABCG5 Sitosterolemia, 210250 (3)
ABCG8 {Gallbladder disease 4}, 611465 (3)
Sitosterolemia, 210250 (3)
ACTG2 Visceral myopathy, 155310 (3)
ACVR1 Fibrodysplasia ossificans progressiva, 135100 (3)
ADCY3 {Obesity, susceptibility to, BMIQ19}, 617885 (3)
ADRA2B Epilepsy, myoclonic, familial adult, 2, 607876 (3)
AGBL5 Retinitis pigmentosa 75, 617023 (3)
AGXT Hyperoxaluria, primary, type 1, 259900 (3)
ALK {Neuroblastoma, susceptibility to, 3}, 613014 (3)
ALMS1 Alstrom syndrome, 203800 (3)
ALS2 Amyotrophic lateral sclerosis 2, juvenile, 205100 (3)
Primary lateral sclerosis, juvenile, 606353 (3)
Spastic paralysis, infantile onset ascending, 607225 (3)
ANTXR1 GAPO syndrome, 230740 (3)
{?Hemangioma, capillary infantile, susceptibility to}, 602089 (3)
APOB Hypercholesterolemia, due to ligand-defective apo B, 144010 (3)
Hypobetalipoproteinemia, 615558 (3)
ARMC9 Joubert syndrome 30, 617622 (3)
BARD1 {Breast cancer, susceptibility to}, 114480 (3)
BCL11A Dias-Logan syndrome, 617101 (3)
BCS1L GRACILE syndrome, 603358 (3)
Bjornstad syndrome, 262000 (3)
Leigh syndrome, 256000 (3)
Mitochondrial complex III deficiency, nuclear type 1, 124000 (3)
CAD Epileptic encephalopathy, early infantile, 50, 616457 (3)
CAPN10 {Diabetes mellitus, noninsulin-dependent 1}, 601283 (3)
CASP10 Gastric cancer, somatic, 613659 (3)
Autoimmune lymphoproliferative syndrome, type II, 603909 (3)
Lymphoma, non-Hodgkin, somatic, 605027 (3)
CASP8 Hepatocellular carcinoma, somatic, 114550 (3)
{Lung cancer, protection against}, 211980 (3)
?Autoimmune lymphoproliferative syndrome, type IIB, 607271 (3)
{Breast cancer, protection against}, 114480 (3)
CCDC115 Congenital disorder of glycosylation, type IIo, 616828 (3)
CCDC88A ?PEHO syndrome-like, 617507 (3)
CD207 [?Birbeck granule deficiency], 613393 (3)
CERKL Retinitis pigmentosa 26, 608380 (3)
CHRND Multiple pterygium syndrome, lethal type, 253290 (3)
Myasthenic syndrome, congenital, 3B, fast-channel, 616322 (3)
?Myasthenic syndrome, congenital, 3A, slow-channel, 616321 (3)
?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323 (3)
CHRNG Escobar syndrome, 265000 (3)
Multiple pterygium syndrome, lethal type, 253290 (3)
CKAP2L Filippi syndrome, 272440 (3)
COL3A1 Ehlers-Danlos syndrome, vascular type, 130050 (3)
Polymicrogyria with or without vascular-type EDS, 618343 (3)
COL4A3 Alport syndrome 2, autosomal recessive, 203780 (3)
Alport syndrome 3, autosomal dominant, 104200 (3)
Hematuria, benign familial, 141200 (3)
COL4A4 Alport syndrome 2, autosomal recessive, 203780 (3)
Hematuria, familial benign, 141200 (3)
COL5A2 Ehlers-Danlos syndrome, classic type, 2, 130010 (3)
COL6A3 Bethlem myopathy 1, 158810 (3)
Dystonia 27, 616411 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
CPS1 Carbamoylphosphate synthetase I deficiency, 237300 (3)
{Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3)
{Venoocclusive disease after bone marrow transplantation} (3)
CRYGB Cataract 39, multiple types, autosomal dominant, 615188 (3)
CRYGD Cataract 4, multiple types, 115700 (3)
CTLA4 {Hashimoto thyroiditis}, 140300 (3)
Autoimmune lymphoproliferative syndrome, type V, 616100 (3)
{Systemic lupus erythematosus, susceptibility to}, 152700 (3)
{Celiac disease, susceptibility to, 3}, 609755 (3)
{Diabetes mellitus, insulin-dependent, 12}, 601388 (3)
CTNNA2 Cortical dysplasia, complex, with other brain malformations 9, 618174 (3)
CXCR1 {AIDS, slow progression to}, 609423 (3)
D2HGDH D-2-hydroxyglutaric aciduria, 600721 (3)
DARS Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 (3)
DCTN1 Neuropathy, distal hereditary motor, type VIIB, 607641 (3)
Perry syndrome, 168605 (3)
{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
DES Cardiomyopathy, dilated, 1I, 604765 (3)
Myopathy, myofibrillar, 1, 601419 (3)
Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 (3)
DNMT3A Acute myeloid leukemia, somatic, 601626 (3)
Tatton-Brown-Rahman syndrome, 615879 (3)
DRC1 Ciliary dyskinesia, primary, 21, 615294 (3)
DYNC2LI1 Short-rib thoracic dysplasia 15 with polydactyly, 617088 (3)
DYSF Miyoshi muscular dystrophy 1, 254130 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 2, 253601 (3)
Myopathy, distal, with anterior tibial onset, 606768 (3)
ECEL1 Arthrogryposis, distal, type 5D, 615065 (3)
EDAR Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490 (3)
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3)
[Hair morphology 1, hair thickness], 612630 (3)
EHBP1 {Prostate cancer, hereditary, 12}, 611868 (3)
EIF2AK3 Wolcott-Rallison syndrome, 226980 (3)
ELMOD3 ?Deafness, autosomal recessive 88, 615429 (3)
EPCAM Colorectal cancer, hereditary nonpolyposis, type 8, 613244 (3)
Diarrhea 5, with tufting enteropathy, congenital, 613217 (3)
ERBB4 Amyotrophic lateral sclerosis 19, 615515 (3)
FAM161A Retinitis pigmentosa 28, 606068 (3)
FN1 Glomerulopathy with fibronectin deposits 2, 601894 (3)
Plasma fibronectin deficiency, 614101 (1)
Spondylometaphyseal dysplasia, corner fracture type, 184255 (3)
FSHR Ovarian dysgenesis 1, 233300 (3)
Ovarian hyperstimulation syndrome, 608115 (3)
Ovarian response to FSH stimulation, 276400 (3)
FSIP2 Spermatogenic failure 34, 618153 (3)
GAD1 ?Cerebral palsy, spastic quadriplegic, 1, 603513 (3)
GGCX Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842 (3)
Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 (3)
GIGYF2 {Parkinson disease 11}, 607688 (3)
GLI2 Holoprosencephaly 9, 610829 (3)
Culler-Jones syndrome, 615849 (3)
GPD2 {Diabetes, type 2, susceptibility to}, 125853 (3)
GYPC {Malaria, resistance to}, 611162 (3)
[Blood group, Gerbich], 616089 (3)
HAAO Vertebral, cardiac, renal, and limb defects syndrome 1, 617660 (3)
HADHB Trifunctional protein deficiency, 609015 (3)
HECW2 Neurodevelopmental disorder with hypotonia, seizures, and absent language, 617268 (3)
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)
HNMT Mental retardation, autosomal recessive 51, 616739 (3)
{Asthma, susceptibility to}, 600807 (3)
HOXD13 Brachydactyly, type D, 113200 (3)
Brachydactyly, type E, 113300 (3)
?Brachydactyly-syndactyly syndrome, 610713 (3)
Syndactyly, type V, 186300 (3)
Synpolydactyly 1, 186000 (3)
HS6ST1 {Hypogonadotropic hypogonadism 15 with or without anosmia}, 614880 (3)
HSPD1 Leukodystrophy, hypomyelinating, 4, 612233 (3)
Spastic paraplegia 13, autosomal dominant, 605280 (3)
IFIH1 Aicardi-Goutieres syndrome 7, 615846 (3)
Singleton-Merten syndrome 1, 182250 (3)
IHH Brachydactyly, type A1, 112500 (3)
Acrocapitofemoral dysplasia, 607778 (3)
IRS1 {Coronary artery disease, susceptibility to} (3)
{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
ITGA6 Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3)
ITGB6 Amelogenesis imperfecta, type IH, 616221 (3)
KCNJ13 Leber congenital amaurosis 16, 614186 (3)
Snowflake vitreoretinal degeneration, 193230 (3)
KHK [Fructosuria], 229800 (3)
KIDINS220 Spastic paraplegia, intellectual disability, nystagmus, and obesity, 617296 (3)
KIF1A Mental retardation, autosomal dominant 9, 614255 (3)
Neuropathy, hereditary sensory, type IIC, 614213 (3)
Spastic paraplegia 30, autosomal recessive, 610357 (3)
KLF11 Maturity-onset diabetes of the young, type VII, 610508 (3)
LCT Lactase deficiency, congenital, 223000 (3)
LHCGR Leydig cell adenoma, somatic, with precocious puberty, 176410 (3)
Leydig cell hypoplasia with hypergonadotropic hypogonadism, 238320 (3)
Leydig cell hypoplasia with pseudohermaphroditism, 238320 (3)
Luteinizing hormone resistance, female, 238320 (3)
Precocious puberty, male, 176410 (3)
LIMS2 ?Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue, 616827 (3)
LIPT1 Lipoyltransferase 1 deficiency, 616299 (3)
LPIN1 Myoglobinuria, acute recurrent, autosomal recessive, 268200 (3)
LRP2 Donnai-Barrow syndrome, 222448 (3)
LRPPRC Leigh syndrome, French-Canadian type, 220111 (3)
MCEE Methylmalonyl-CoA epimerase deficiency, 251120 (3)
MERTK Retinitis pigmentosa 38, 613862 (3)
MFF Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 (3)
MLPH Griscelli syndrome, type 3, 609227 (3)
MOGS Congenital disorder of glycosylation, type IIb, 606056 (3)
MPV17 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3)
MSH2 Colorectal cancer, hereditary nonpolyposis, type 1, 120435 (3)
Mismatch repair cancer syndrome, 276300 (3)
Muir-Torre syndrome, 158320 (3)
MSH6 Colorectal cancer, hereditary nonpolyposis, type 5, 614350 (3)
Mismatch repair cancer syndrome, 276300 (3)
{Endometrial cancer, familial}, 608089 (3)
MYT1L Mental retardation, autosomal dominant 39, 616521 (3)
NBAS Infantile liver failure syndrome 2, 616483 (3)
Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3)
NDUFA10 Mitochondrial complex I deficiency, nuclear type 22, 618243 (3)
NDUFS1 Mitochondrial complex I deficiency, nuclear type 5, 618226 (3)
NEB Nemaline myopathy 2, autosomal recessive, 256030 (3)
NEUROD1 Maturity-onset diabetes of the young 6, 606394 (3)
{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
NFU1 Multiple mitochondrial dysfunctions syndrome 1, 605711 (3)
NHEJ1 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 (3)
NPHP1 Joubert syndrome 4, 609583 (3)
Nephronophthisis 1, juvenile, 256100 (3)
Senior-Loken syndrome-1, 266900 (3)
NRXN1 {Schizophrenia, susceptibility to, 17}, 614332 (3)
Pitt-Hopkins-like syndrome 2, 614325 (3)
OBSL1 3-M syndrome 2, 612921 (3)
OTOF Auditory neuropathy, autosomal recessive, 1, 601071 (3)
Deafness, autosomal recessive 9, 601071 (3)
PAX3 Craniofacial-deafness-hand syndrome, 122880 (3)
Rhabdomyosarcoma 2, alveolar, 268220 (3)
Waardenburg syndrome, type 1, 193500 (3)
Waardenburg syndrome, type 3, 148820 (3)
PDCD1 {Multiple sclerosis, disease progression, modifier of}, 126200 (3)
{Systemic lupus erythematosus, susceptibility to, 2}, 605218 (3)
PDE11A Pigmented nodular adrenocortical disease, primary, 2, 610475 (3)
PER2 Advanced sleep phase syndrome, familial, 1, 604348 (3)
PIKFYVE Corneal fleck dystrophy, 121850 (3)
POLR1A Acrofacial dysostosis, Cincinnati type, 616462 (3)
PPP1CB Noonan syndrome-like disorder with loose anagen hair 2, 617506 (3)
PROC Thrombophilia due to protein C deficiency, autosomal dominant, 176860 (3)
Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3)
PRSS56 Microphthalmia, isolated 6, 613517 (3)
PXDN Anterior segment dysgenesis 7, with sclerocornea, 269400 (3)
RAB3GAP1 Warburg micro syndrome 1, 600118 (3)
RANBP2 {Encephalopathy, acute, infection-induced, 3, susceptibility to}, 608033 (3)
REEP1 ?Neuronopathy, distal hereditary motor, type VB, 614751 (3)
Spastic paraplegia 31, autosomal dominant, 610250 (3)
RNASEH1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2, 616479 (3)
SAG Oguchi disease-1, 258100 (3)
Retinitis pigmentosa 47, 613758 (3)
SATB2 Glass syndrome, 612313 (3)
SCN1A Febrile seizures, familial, 3A, 604403 (3)
Epilepsy, generalized, with febrile seizures plus, type 2, 604403 (3)
Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208 (3)
Migraine, familial hemiplegic, 3, 609634 (3)
SCN3A Epilepsy, familial focal, with variable foci 4, 617935 (3)
Epileptic encephalopathy, early infantile, 62, 617938 (3)
SCN9A Febrile seizures, familial, 3B, 613863 (3)
HSAN2D, autosomal recessive, 243000 (3)
Epilepsy, generalized, with febrile seizures plus, type 7, 613863 (3)
Erythermalgia, primary, 133020 (3)
Insensitivity to pain, congenital, 243000 (3)
Paroxysmal extreme pain disorder, 167400 (3)
Small fiber neuropathy, 133020 (3)
{Dravet syndrome, modifier of}, 607208 (3)
SF3B1 Myelodysplastic syndrome, somatic, 614286 (3)
SFTPB Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3)
SIX3 Holoprosencephaly 2, 157170 (3)
Schizencephaly, 269160 (3)
SLC1A4 Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 (3)
SLC25A12 Epileptic encephalopathy, early infantile, 39, 612949 (3)
SLC3A1 Cystinuria, 220100 (3)
SLC40A1 Hemochromatosis, type 4, 606069 (3)
SMARCAL1 Schimke immunoosseous dysplasia, 242900 (3)
SNRNP200 Retinitis pigmentosa 33, 610359 (3)
SP110 Hepatic venoocclusive disease with immunodeficiency, 235550 (3)
{Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
SPEG Centronuclear myopathy 5, 615959 (3)
TM4SF20 {Specific language impairment 5}, 615432 (3)
TPO Thyroid dyshormonogenesis 2A, 274500 (3)
TPRKB Galloway-Mowat syndrome 5, 617731 (3)
TRAF3IP1 Senior-Loken syndrome 9, 616629 (3)
TRAPPC12 Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669 (3)
TRIP12 Mental retardation, autosomal dominant 49, 617752 (3)
TTC21B Nephronophthisis 12, 613820 (3)
Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 (3)
TTC7A Gastrointestinal defects and immunodeficiency syndrome, 243150 (3)
TTN Cardiomyopathy, dilated, 1G, 604145 (3)
Cardiomyopathy, familial hypertrophic, 9, 613765 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807 (3)
Myopathy, proximal, with early respiratory muscle involvement, 603689 (3)
Salih myopathy, 611705 (3)
Tibial muscular dystrophy, tardive, 600334 (3)
TUBA3D Keratoconus 9, 617928 (3)
UNC80 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 (3)
VWA3B ?Spinocerebellar ataxia, autosomal recessive 22, 616948 (3)
WDR35 Cranioectodermal dysplasia 2, 613610 (3)
Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 (3)
WIPF1 ?Wiskott-Aldrich syndrome 2, 614493 (3)
XDH Xanthinuria, type I, 278300 (3)
ZAP70 Autoimmune disease, multisystem, infantile-onset, 2, 617006 (3)
Immunodeficiency 48, 269840 (3)
ZEB2 Mowat-Wilson syndrome, 235730 (3)

Genes at Clinical Genomics Database

ABCA12, ABCB11, ABCB6, ABCG5, ABCG8, ACTG2, ACVR1, AGXT, ALK, ALMS1, ALS2, ANTXR1, APOB, ATP6V1B1, BARD1, BCL11A, BCS1L, CAD, CASP10, CASP8, CCDC115, CD207, CERKL, CHRND, CHRNG, CKAP2L, COL3A1, COL4A3, COL4A4, COL5A2, COL6A3, CPS1, CRYGB, CRYGD, CTLA4, D2HGDH, DCTN1, DES, DNMT3A, DYSF, ECEL1, EDAR, EIF2AK3, ELMOD3, EPCAM, ERBB4, FAM161A, FANCL, FN1, FSHR, GAD1, GGCX, GIGYF2, GLI2, GYPC, HADHB, HDAC4, HIBCH, HNMT, HOXD13, HS6ST1, HSPD1, IFIH1, IHH, ITGA6, ITGB6, KCNJ13, KHK, KIF1A, KLF11, LCT, LHCGR, LIMS2, LIPT1, LPIN1, LRP2, LRPPRC, MCEE, MERTK, MLPH, MMADHC, MOGS, MPV17, MSH2, MSH6, MYT1L, NBAS, NDUFA10, NDUFS1, NEB, NEUROD1, NFU1, NHEJ1, NPHP1, NRXN1, OBSL1, OTOF, PAX3, PDE11A, PER2, PIKFYVE, POLR1A, PROC, PRSS56, PXDN, RAB3GAP1, RANBP2, REEP1, RNASEH1, SAG, SATB2, SCN1A, SCN9A, SFTPB, SIX3, SLC1A4, SLC25A12, SLC3A1, SLC40A1, SMARCAL1, SNRNP200, SP110, SPEG, TPO, TRAF3IP1, TTC21B, TTC7A, TTN, UNC80, VWA3B, WDR35, WIPF1, XDH, ZAP70, ZEB2,
ABCA12 Ichthyosis, harlequin
Ichthyosis, lamellar, type 2
ABCB11 Cholestasis, progressive familial intrahepatic 2
ABCB6 Pseudohyperkalemia, familial, 2, due to red cell leak
Blood group, Langereis system
ABCG5 Sitosterolemia
ABCG8 Sitosterolemia
ACTG2 Megacystis-microcolon-intestinal hypoperistalsis syndrome
Visceral myopathy
ACVR1 Fibrodysplasia ossificans progressiva
AGXT Hyperoxaluria, primary, type 1
ALK Neuroblastoma, susceptibility to, 3
ALMS1 Alstrom syndrome
ALS2 Spastic paralysis, infantile onset ascending
Primary lateral sclerosis, juvenile
Amyotrophic lateral sclerosis 2
ANTXR1 Hemangioma, capillary infantile, susceptibility to
Growth retardation, alopecia, pseudoanodontia, and optic atrophy (GAPO syndrome)
APOB Hypobetalipoproteinemia, familial
Hypercholesterolemia, familial
ATP6V1B1 Renal tubular acidosis with deafness
BARD1 Breast cancer, susceptibility to
BCL11A Severe speech sound disorder
BCS1L Bjornstad syndrome
CAD Congenital disorder of glycosylation, type Iz
CASP10 Autoimmune lymphoproliferative syndrome, type IIA
CASP8 Caspase 8 defiency
CCDC115 Congenital disorder of glycosylation, type IIo
CD207 Birbeck granule deficiency
CERKL Retinitis pigmentosa 26
CHRND Myasthenic syndrome, congenital, fast channel
Myasthenic syndrome,congenital, slow-channel
Myasthenic syndrome, congenital, 3C
CHRNG Multiple pterygium syndrome
Escobar syndrome
CKAP2L Filippi syndrome
COL3A1 Ehlers-Danlos syndrome, type IV
COL4A3 Alport syndrome, autosomal dominant
Alport syndrome, autosomal recessive
COL4A4 Alport syndrome, autosomal recessive
COL5A2 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type II
COL6A3 Ullrich congenital muscular dystrophy 1
Bethlem myopathy 1
Dystonia 27
CPS1 Carbamoylphosphate synthetase I deficiency
CRYGB Cataract 39, multiple types
CRYGD Cataract 4, multiple types
CTLA4 Autoimmune lymphoproliferative syndrome, type V
D2HGDH D-2-hydroxyglutaric aciduria 1
DCTN1 Neuropathy, distal hereditary motor, type VIIB
Perry syndrome
DES Myopathy, myofibrillar 1
Cardiomyopathy, dilated, 1I
DNMT3A Tatton-Brown-Rahman syndrome
DYSF Miyoshi muscular dystrophy 1
Muscular dystrophy, limb-girdle, type 2B
Myopathy, distal, with anterior tibial onset
ECEL1 Arthrogryposis, distal, type 5D
EDAR Ectodermal dysplasia, anhidrotic, autosomal dominant
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
Hair morphology 1
EIF2AK3 Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
Wolcott-Rallison syndrome
ELMOD3 Deafness, autosomal recessive 88
EPCAM Colorectal cancer, hereditary nonpolyposis, type 8
Diarrhea 5, with tufting enteropathy, congenital
ERBB4 Amyotrophic lateral sclerosis 19
FAM161A Retitinis pigmentosa 28
FANCL Fanconi anemia type L
FN1 Glomerulopathy with fibronectin deposits 2
FSHR Ovarian hyperstimulation syndrome
Ovarian dysgenesis 1
GAD1 Cerebral palsy, spastic quadriplegic, 1
GGCX Vitamin K-dependent clotting factors, combined deficiency of, 1
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
GIGYF2 Parkinson disease, autosomal dominant, 11
GLI2 Culler-Jones syndrome
GYPC Blood group, Gerbich
Blood group, Webb
Blood group, Duch
HADHB Trifunctional protein deficiency
HDAC4 Brachydacytly-mental retardation syndrome
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency
HNMT Mental retardation, autosomal recessive 51
HOXD13 Brachydactyly-syndactyly syndrome
Brachydactyly, type D
Brachydactyly, type E1
Syndactyly, type V
Synopolydactyly, type I, Synopolydactyly, type II
Synopolydactyly with clefting, autosomal recessive
HS6ST1 Hypogonadotropic hypogonadism 15, with or without anosmia
HSPD1 Spastic paraplegia-13
Leukodystrophy, hypomyelinating, 4
IFIH1 Singleton-Merten syndrome 1
IHH Acrocapitofemoral dysplasia
Brachydactyly, type A1
ITGA6 Epidermolysis bullosa, junctional, with pyloric stenosis
ITGB6 Amelogenesis imperfecta, type IH
KCNJ13 Snowflake vitreoretinal degeneration
Leber congenital amaurosis 16
KHK Fructosuria, essential
KIF1A Mental retardation, autosomal dominant 9
Neuropathy, hereditary sensory, type IIC
Spastic paraplegia 30, autosomal recessive
KLF11 Maturity-onset diabetes of the young, type VII
LCT Lactase deficiency, congenital
LHCGR Leydig cell hypoplasia type I
Leydig cell hypoplasia type II
Luteinizing hormone resistance, female
Precocious puberty, male
LIMS2 Muscular dystrophy, limb-girdle, type 2W
LIPT1 Lipoyltransferase 1 deficiency
LPIN1 Myoglobinuria, acute, recurrent, autosomal recessive
LRP2 Donnai-Barrow syndrome
Faciooculoacousticorenal syndrome
LRPPRC Leigh syndrome, French-Canadian type
MCEE Methylmalonyl-CoA epimerase deficiency
MERTK Retinitis pigmentosa 38
MLPH Griscelli syndrome, type 3
MMADHC Methylmalonic aciduria and homocystinuria, cblD type
MOGS Congenital disorder of glycosylation, type IIb
MPV17 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
MSH2 Colorectal cancer, hereditary nonpolyposis, type 1
Endometrial cancer
Mismatch repair cancer syndrome
Muir-Torre syndrome
MSH6 Colorectal cancer, hereditary nonpolyposis type 5
Mismatch repair cancer syndrome
Endometrial cancer
MYT1L Mental retardation, autosomal dominant 39
NBAS Infantile liver failure syndrome 2
Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH syndrome)
NDUFA10 Mitochondrial complex I deficiency
Leigh syndrome
NDUFS1 Mitochondrial complex I deficiency
NEB Nemaline myopathy 2
NEUROD1 Maturity onset diabetes of the young 6
NFU1 Multiple mitochondrial dysfunctions syndrome 1
NHEJ1 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
NPHP1 Joubert syndrome 4
Senior-Loken syndrome 1
Nephronophthisis 1
NRXN1 Schizophrenia 17
Pitt-Hopkins-like syndrome 2
OBSL1 Three M syndrome 2
OTOF Deafness, autosomal recessive 9
Neuropathy, autosomal recessive, 1
PAX3 Waardenburg syndrome, type 1
Waardenburg syndrome, type 3
Craniofacial-deafness-hand syndrome
PDE11A Pigmented nodular adrenocortical disease, primary, 2
PER2 Advanced sleep phase syndrome, familial
PIKFYVE Corneal fleck dystrophy
POLR1A Acrofacial dysostosis, Cincinnati type
PROC Thrombophilia, hereditary, due to protein C deficiency
PRSS56 Microphthalmia, isolated 6
PXDN Corneal opacification with other ocular anomalies
RAB3GAP1 Warburg micro syndrome 1
RANBP2 Encephalopathy, acute, infection-induced, 3, susceptibility to
REEP1 Spastic paraplegia 31
Distal hereditary motor neuronopathy VB
RNASEH1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 2
SAG Retinitis pigmentosa 47
Oguchi disease 1
SATB2 Episodic pain syndrome, familial, 3
Neuropathy, hereditary sensory and autonomic, type VI
SCN1A Migraine, familial hemiplegic 3
SCN9A Paroxysmal extreme pain disorder
SFTPB Surfactant metabolism dysfunction, pulmonary 1
SIX3 Holoprosencephaly
SLC1A4 Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
SLC25A12 Hypomyelination, global cerebral
SLC3A1 Cystinuria
SLC40A1 Hemochromatosis, type 4
SMARCAL1 Schimke immunoosseous dysplasia
SNRNP200 Retinitis pigmentosa 33
SP110 Hepatic venoocclusive disease with immunodeficiency
SPEG Centronuclear myopathy 5
TPO Thyroid dyshormonogenesis 2A
TRAF3IP1 Senior-Loken syndrome 9
TTC21B Nephronophthisis 12
Short-rib thoracic dysplasia 4 with or without polydactyly
TTC7A Gastrointestinal defects and immunodeficiency syndrome
TTN Cardiomyopathy, familial hypertrophic 9
Cardiomyopathy, dilated, 1G
UNC80 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
VWA3B Spinocerebellar ataxia, autosomal recessive 22
WDR35 Cranioectodermal dysplasia 2
Short -rib thoracic dysplasia 7 with or without polydactyly
WIPF1 Wiskott-Aldrich syndrome 2
XDH Xanthinuria, type I
ZAP70 Selective T-cell defect
ZEB2 Mowat-Wilson syndrome

Genes at HGMD

Summary

Number of Variants: 8324
Number of Genes: 685

Export to: CSV

AAK1
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 013 final 2 rs3832159,rs66931661
dbSNP Clinvar 		69741753 560.77 CTGT C PASS 0/1 41 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.35583 0.35580 0.34251 None None None None None None AAK1|0.297965723|27.81%
View 013 final 2 rs2276689
dbSNP Clinvar 		69741609 465.77 C T PASS 0/1 45 SYNONYMOUS_CODING LOW SILENT 0.32129 0.32130 0.26561 None None None None None None AAK1|0.297965723|27.81%
View 013 final 2 rs6715776
dbSNP Clinvar 		69741854 2286.77 T G PASS 1/1 75 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 1.00 0.00 None None None None None None AAK1|0.297965723|27.81%

ABCA12
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 013 final 2 rs34351934
dbSNP Clinvar 		215851303 758.77 A G PASS 0/1 61 SYNONYMOUS_CODING LOW SILENT 0.20707 0.20710 0.19491 None None None None None None ABCA12|0.403146751|20.59%
View 013 final 2 rs10498027
dbSNP Clinvar 		215820013 754.77 G A PASS 0/1 80 SYNONYMOUS_CODING LOW SILENT 0.35004 0.35000 0.38221 None None None None None None ABCA12|0.403146751|20.59%
View 013 final 2 rs6711179
dbSNP Clinvar 		215940242 2362.77 T C PASS 1/1 81 None None None 0.76158 0.76160 0.00 None None None None None None ABCA12|0.403146751|20.59%
View 013 final 2 rs17501837
dbSNP Clinvar 		215901774 2284.77 C T PASS 1/1 79 SYNONYMOUS_CODING LOW SILENT 0.22344 0.22340 0.18976 None None None None None None ABCA12|0.403146751|20.59%
View 013 final 2 rs148979792
dbSNP Clinvar 		215882749 1072.77 G T PASS 0/1 159 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00419 0.00419 0.00746 0.09 0.51 None None None None None None ABCA12|0.403146751|20.59%
View 013 final 2 rs10198064
dbSNP Clinvar 		215876371 891.77 T C PASS 0/1 66 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.27935 0.27940 0.26342 None None None None None None ABCA12|0.403146751|20.59%
View 013 final 2 rs7560008
dbSNP Clinvar 		215876166 842.77 A T PASS 1/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99840 0.99840 0.00223 0.32 0.00 None None None None None None ABCA12|0.403146751|20.59%

ABCB11
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 013 final 2 rs497692
dbSNP Clinvar 		169789016 783.77 T C PASS 0/1 62 SYNONYMOUS_CODING LOW SILENT 0.49681 0.49680 0.45460 None None None None None None ABCB11|0.25846736|30.88%

ABCB6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 013 final 2 rs1109866
dbSNP Clinvar 		220083279 5705.77 C T PASS 1/1 200 SYNONYMOUS_CODING LOW SILENT 0.73802 0.73800 0.23999 None None None None None None ABCB6|0.122432704|47.04%,ATG9A|0.445722129|18.39%

ABCG5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 013 final 2 rs6756629
dbSNP Clinvar 		44065090 1116.77 G A PASS 0/1 112 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06709 0.06709 0.06666 0.01 0.65 None None None None None None ABCG5|0.20182023|36.56%
View 013 final 2 rs4549146
dbSNP Clinvar 		44055527 85.77 T C PASS 0/1 7 None None None 0.62360 0.62360 None None None None None None ABCG5|0.20182023|36.56%
View 013 final 2 rs114938914
dbSNP Clinvar 		44055510 119.77 C T PASS 0/1 9 None None None 0.07029 0.07029 None None None None None None ABCG5|0.20182023|36.56%

ABCG8
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 013 final 2 rs6544718
dbSNP Clinvar 		44104925 2411.77 T C PASS 0/1 203 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.92292 0.92290 0.16277 1.00 0.00 None None None None None None ABCG8|0.174377842|39.74%
View 013 final 2 rs4148217
dbSNP Clinvar 		44099433 3345.77 C A PASS 0/1 292 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.21566 0.21570 0.21905 0.22 0.05 None None None None None None ABCG8|0.174377842|39.74%
View 013 final 2 rs56132765
dbSNP Clinvar 		44078853 5373.77 G A PASS 0/1 502 SYNONYMOUS_CODING LOW SILENT 0.06310 0.06310 0.06743 None None None None None None ABCG8|0.174377842|39.74%
View 013 final 2 rs11887534
dbSNP Clinvar 		44066247 1554.77 G C PASS 0/1 114 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06050 0.06050 0.05422 0.03 0.53 None None None None None None ABCG8|0.174377842|39.74%

ABHD1
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 013 final 2 rs2304678
dbSNP Clinvar 		27353507 2431.77 G C PASS 0/1 225 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.20647 0.20650 0.19852 0.47 0.00 None None None None None None ABHD1|0.046523373|63.73%
View 013 final 2 rs6715286
dbSNP Clinvar 		27351948 5107.77 T G PASS 1/1 161 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.98343 0.98340 0.01653 1.00 0.00 None None None None None None ABHD1|0.046523373|63.73%

AC008271.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 013 final 2 rs4668962
dbSNP Clinvar 		15840645 852.77 T C PASS 1/1 29 SYNONYMOUS_CODING LOW SILENT 0.60743 0.60740 None None None None None None None

AC012493.2
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 013 final 2 rs1437971
dbSNP Clinvar 		100986964 224.77 A C PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.82947 0.82950 1.00 0.00 None None None None None None None

AC016757.3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 013 final 2 rs7572285
dbSNP Clinvar 		239134056 4076.77 A G PASS 0/1 346 SYNONYMOUS_CODING LOW SILENT 0.33666 0.33670 None None None None None None None
View 013 final 2 rs35648651
dbSNP Clinvar 		239133843 2165.77 A G PASS 0/1 198 SYNONYMOUS_CODING LOW SILENT 0.09884 0.09884 None None None None None None None

AC017028.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 013 final 2 rs145251344
dbSNP Clinvar 		240083965 1313.77 AG A PASS 0/1 113 FRAME_SHIFT HIGH 0.04613 0.04613 None None None None None None HDAC4|0.732602049|7.56%

AC017104.2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 013 final 2 rs11295750,rs796987985
dbSNP Clinvar 		232317402 1610.77 CA C PASS 0/1 123 FRAME_SHIFT HIGH 0.23582 0.23580 None None None None None None None

AC062017.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 013 final 2 rs1709851
dbSNP Clinvar 		240323661 5077.77 C A PASS 1/1 171 STOP_GAINED+SPLICE_SITE_REGION HIGH NONSENSE 0.76178 0.76180 None None None None None None None
View 013 final 2 rs3215239
dbSNP Clinvar 		240323905 3005.77 T TG PASS 0/1 184 FRAME_SHIFT HIGH 0.51817 0.51820 None None None None None None None

AC064874.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 013 final 2 rs1878154
dbSNP Clinvar 		236691982 1311.77 A G PASS 0/1 97 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22224 0.22220 0.30 None None None None None None AGAP1|0.457547319|17.79%

AC074091.13
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 013 final 2 rs4665385
dbSNP Clinvar 		27930837 607.77 C T PASS 0/1 38 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26558 0.26560 0.31 None None None None None None None

AC079354.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 013 final 2 rs35468542
dbSNP Clinvar 		203052947 741.77 G A PASS 0/1 64 None None None 0.06909 0.06909 0.11 None None None None None None None
View 013 final 2 rs2882486
dbSNP Clinvar 		202964380 3315.77 G A PASS 1/1 116 SYNONYMOUS_CODING LOW SILENT 0.47244 0.47240 None None None None None None None
View 013 final 2 rs10221698
dbSNP Clinvar 		202939654 3025.77 T C PASS 1/1 106 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.33706 0.33710 0.11 0.04 None None None None None None None

AC079612.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 013 final 2 rs6543554
dbSNP Clinvar 		240500413 10538.77 A G PASS 1/1 329 SYNONYMOUS_CODING LOW SILENT 0.82748 0.82750 0.09790 None None None None None None None
View 013 final 2 rs11683242
dbSNP Clinvar 		240500294 4822.77 A C PASS 0/1 424 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12480 0.12480 0.14652 0.88 None None None None None None None
View 013 final 2 rs35846411
dbSNP Clinvar 		240500170 2222.77 G A PASS 0/1 154 SYNONYMOUS_CODING LOW SILENT 0.12480 0.12480 0.14652 None None None None None None None

AC093802.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 013 final 2 rs560673765
dbSNP Clinvar 		240701998 2020.77 G A PASS 0/1 183 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.00040 0.00040 None None None None None None None

AC104667.3
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 013 final 2 rs114742872
dbSNP Clinvar 		238499866 746.77 C T PASS 0/1 41 SYNONYMOUS_CODING LOW SILENT None None None None None None RAB17|0.004320407|86.57%
View 013 final 2 rs146534321
dbSNP Clinvar 		238499863 748.77 A AA... PASS 0/1 37 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE 0.51637 0.51640 None None None None None None RAB17|0.004320407|86.57%
View 013 final 2 rs10084167
dbSNP Clinvar 		238500642 262.77 A G PASS 0/1 22 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.40156 0.40160 0.67 0.00 None None None None None None RAB17|0.004320407|86.57%
View 013 final 2 rs114637219
dbSNP Clinvar 		238500617 446.77 G A PASS 0/1 35 SYNONYMOUS_CODING LOW SILENT 0.01458 0.01458 None None None None None None RAB17|0.004320407|86.57%

AC104809.3
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 013 final 2 rs10169006
dbSNP Clinvar 		241898824 3068.77 A G PASS 1/1 97 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.68351 0.68350 1.00 0.00 None None None None None None None
View 013 final 2 rs11688859
dbSNP Clinvar 		241904001 1504.77 G C PASS 1/1 54 None None None 0.67352 0.67350 1.00 0.00 None None None None None None None
View 013 final 2 rs4441463
dbSNP Clinvar 		241872597 2705.77 A G PASS 1/1 87 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.67891 0.67890 1.00 0.00 None None None None None None None
View 013 final 2 rs34726174
dbSNP Clinvar 		241871847 10055.77 G A PASS 1/1 349 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12580 0.12580 0.57 0.00 None None None None None None None
View 013 final 2 rs4675847
dbSNP Clinvar 		241865156 3687.77 T C PASS 1/1 132 SYNONYMOUS_CODING LOW SILENT 0.78974 0.78970 None None None None None None None
View 013 final 2 rs10200024
dbSNP Clinvar 		241929228 2135.77 A G PASS 1/1 68 None None None 0.80851 0.80850 1.00 0.00 None None None None None None None

AC112715.2
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 013 final 2 rs4377288
dbSNP Clinvar 		238166147 738.77 G A PASS 0/1 85 SYNONYMOUS_CODING LOW SILENT 0.62720 0.62720 None None None None None None None

ACKR3
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 013 final 2 rs1045879
dbSNP Clinvar 		237489904 2938.77 C T PASS 0/1 220 SYNONYMOUS_CODING LOW SILENT 0.34724 0.34720 0.40012 None None None None None None ACKR3|0.161876661|41.3%

ACOXL
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 013 final 2 rs139248421
dbSNP Clinvar 		111562876 2165.77 G A PASS 0/1 182 SYNONYMOUS_CODING LOW SILENT 0.00020 0.00020 0.00131 None None None None None None ACOXL|0.057491176|60.56%

ACP1
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 013 final 2 rs79716074
dbSNP Clinvar 		277003 363.77 A G PASS 0/1 34 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26418 0.26420 0.30346 0.12 0.00 None None None None None None ACP1|0.241498601|32.31%
View 013 final 2 rs11553746
dbSNP Clinvar 		272203 2435.77 C T PASS 0/1 248 None None None 0.24341 0.24340 0.28541 None None None None None None ACP1|0.241498601|32.31%

ACSL3
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 013 final 2 rs6756323
dbSNP Clinvar 		223785740 1123.77 A G PASS 0/1 112 None None None 0.53195 0.53190 None None None None None None ACSL3|0.118675241|47.65%

ACTG2
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 013 final 2 rs756128
dbSNP Clinvar 		74135898 2766.77 A G PASS 1/1 95 SYNONYMOUS_CODING LOW SILENT 0.57189 0.57190 0.41004 None None None None None None ACTG2|0.370515143|22.67%

ACTR1B
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 013 final 2 rs11692435
dbSNP Clinvar 		98275354 1592.77 G A PASS 0/1 145 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02376 0.02376 0.06043 0.00 1.00 None None None None None None ACTR1B|0.331988418|25.32%
View 013 final 2 rs1042705
dbSNP Clinvar 		98274527 11872.77 G C PASS 1/1 385 SYNONYMOUS_CODING LOW SILENT 0.53235 0.53230 0.28841 None None None None None None ACTR1B|0.331988418|25.32%

ACVR1
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 013 final 2 rs2227861
dbSNP Clinvar 		158636910 4910.77 G A PASS 1/1 170 SYNONYMOUS_CODING LOW SILENT 0.65096 0.65100 0.39528 None None None None None None ACVR1|0.908763541|3.27%
View 013 final 2 rs1146031
dbSNP Clinvar 		158626980 3086.77 C T PASS 1/1 103 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.91394 0.91390 0.08850 None None None None None None ACVR1|0.908763541|3.27%

ACVR1C
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 013 final 2 rs4556933
dbSNP Clinvar 		158443889 688.77 G A PASS 0/1 65 SYNONYMOUS_CODING LOW SILENT 0.44030 0.44030 0.48462 None None None None None None ACVR1C|0.479079686|16.81%

ADAM23
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 013 final 2 rs3732079
dbSNP Clinvar 		207459467 1187.77 C T PASS 0/1 80 SYNONYMOUS_CODING LOW SILENT 0.17891 0.17890 0.14109 None None None None None None ADAM23|0.480551722|16.74%

ADCY3
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 013 final 2 rs1127568
dbSNP Clinvar 		25046090 562.77 T C PASS 0/1 52 SYNONYMOUS_CODING LOW SILENT 0.69129 0.69130 0.37460 None None None None None None ADCY3|0.184618724|38.39%
View 013 final 2 rs61732745
dbSNP Clinvar 		25141434 3146.77 G A PASS 0/1 265 SYNONYMOUS_CODING LOW SILENT 0.10104 0.10100 0.13025 None None None None None None ADCY3|0.184618724|38.39%
View 013 final 2 rs7566416
dbSNP Clinvar 		25050977 2360.77 T C PASS 0/1 155 SYNONYMOUS_CODING LOW SILENT 0.65955 0.65950 0.40927 None None None None None None ADCY3|0.184618724|38.39%
View 013 final 2 rs11676272
dbSNP Clinvar 		25141538 4214.77 A G PASS 0/1 356 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.56689 0.56690 0.40335 0.42 0.00 None None None None None None ADCY3|0.184618724|38.39%
View 013 final 2 rs2241758
dbSNP Clinvar 		25064157 641.77 G C PASS 0/1 41 SYNONYMOUS_CODING LOW SILENT 0.07069 0.07069 0.05455 None None None None None None ADCY3|0.184618724|38.39%

ADI1
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 013 final 2 rs9950
dbSNP Clinvar 		3504687 2831.77 A G PASS 0/1 235 SYNONYMOUS_CODING LOW SILENT 0.53355 0.53350 0.49316 None None None None None None ADI1|0.015730292|76.62%
View 013 final 2 rs7566663
dbSNP Clinvar 		3518643 474.77 T C PASS 0/1 30 None None None 0.24002 0.24000 0.17 0.00 None None None None None None ADI1|0.015730292|76.62%

ADRA2B
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 013 final 2 rs9333567
dbSNP Clinvar 		96781853 2213.77 T C PASS 0/1 218 SYNONYMOUS_CODING LOW SILENT 0.09645 0.09645 0.04809 None None None None None None ADRA2B|0.088340463|53.59%
View 013 final 2 rs34667759,rs28365031,rs29000568
dbSNP Clinvar 		96780986 5534.77 C CT... PASS 0/1 255 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE 0.24860 0.47060 0.29666 None None None None None None ADRA2B|0.088340463|53.59%
View 013 final 2 rs2229169
dbSNP Clinvar 		96780716 4104.77 T G PASS 0/1 368 SYNONYMOUS_CODING LOW SILENT 0.70527 0.70530 0.29530 None None None None None None ADRA2B|0.088340463|53.59%

AFF3
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 013 final 2 rs4851223
dbSNP Clinvar 		100343557 3563.77 C T PASS 1/1 129 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 1.00 0.00 None None None None None None AFF3|0.40331812|20.57%
View 013 final 2 rs4851214
dbSNP Clinvar 		100218080 165.77 G A PASS 0/1 18 SYNONYMOUS_CODING LOW SILENT 0.23982 0.23980 0.19810 None None None None None None AFF3|0.40331812|20.57%
View 013 final 2 rs1047265
dbSNP Clinvar 		100210642 4134.77 T C PASS 0/1 345 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14776 0.14780 0.17338 1.00 0.00 None None None None None None AFF3|0.40331812|20.57%
View 013 final 2 rs1047281
dbSNP Clinvar 		100210074 3021.77 G C PASS 0/1 190 SYNONYMOUS_CODING LOW SILENT 0.14677 0.14680 0.17083 None None None None None None AFF3|0.40331812|20.57%

AFTPH
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 013 final 2 rs7576956
dbSNP Clinvar 		64780144 1327.77 A G PASS 0/1 113 SYNONYMOUS_CODING LOW SILENT 0.01558 0.01558 0.03591 None None None None None None AFTPH|0.406898586|20.39%

AGAP1
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 013 final 2 rs8178995
dbSNP Clinvar 		236617869 2250.77 G A PASS 0/1 259 SYNONYMOUS_CODING LOW SILENT 0.07228 0.07228 0.08189 None None None None None None AGAP1|0.457547319|17.79%
View 013 final 2 rs13014733
dbSNP Clinvar 		236579317 4008.77 G A PASS 1/1 133 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.19129 0.19130 0.12 0.00 None None None None None None AGAP1|0.457547319|17.79%
View 013 final 2 rs2034648
dbSNP Clinvar 		236957822 3788.77 G A PASS 0/1 319 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.69050 0.69050 0.36622 0.43 0.00 None None None None None None AGAP1|0.457547319|17.79%
View 013 final 2 rs13006916
dbSNP Clinvar 		236761396 1126.77 C T PASS 0/1 119 None None None 0.47963 0.47960 0.00 0.00 None None None None None None AGAP1|0.457547319|17.79%
View 013 final 2 rs2292708
dbSNP Clinvar 		236708166 3991.77 C T PASS 0/1 347 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.19169 0.19170 0.21506 None None None None None None AGAP1|0.457547319|17.79%

AGBL5
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 013 final 2 rs11681145
dbSNP Clinvar 		27290525 3603.77 A G PASS 1/1 119 None None None 0.64177 0.64180 0.41027 None None None None None None AGBL5|0.277996777|29.26%

AGFG1
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 013 final 2 rs13426457
dbSNP Clinvar 		228416712 7526.77 A G PASS 1/1 267 SYNONYMOUS_CODING LOW SILENT 0.76717 0.76720 0.24289 None None None None None None AGFG1|0.418055889|19.67%

AGXT
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 013 final 2 rs33958047
dbSNP Clinvar 		241813453 3400.77 G A PASS 0/1 247 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.15316 0.15320 0.13171 None None None None None None AGXT|0.028700088|70.08%
View 013 final 2 rs13408961
dbSNP Clinvar 		241816990 1618.77 G A PASS 0/1 178 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02456 0.02456 0.02347 0.39 0.01 None None None None None None AGXT|0.028700088|70.08%

ALK
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 013 final 2 rs2256740
dbSNP Clinvar 		29455267 4948.77 A G PASS 1/1 163 SYNONYMOUS_CODING LOW SILENT 0.50000 0.50000 0.33861 None None None None None None ALK|0.859785808|4.47%
View 013 final 2 rs1569156
dbSNP Clinvar 		29444095 3882.77 C T PASS 1/1 124 None None None 0.91474 0.91470 None None None None None None ALK|0.859785808|4.47%
View 013 final 2 rs2246745
dbSNP Clinvar 		29940529 2889.77 A T PASS 1/1 106 SYNONYMOUS_CODING LOW SILENT 0.58926 0.58930 0.37298 None None None None None None ALK|0.859785808|4.47%
View 013 final 2 rs1670283
dbSNP Clinvar 		29416572 7405.77 T C PASS 1/1 233 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99221 0.99220 0.00969 0.71 0.00 None None None None None None ALK|0.859785808|4.47%
View 013 final 2 rs2293564
dbSNP Clinvar 		29543663 3233.06 T C PASS 1/1 101 SYNONYMOUS_CODING LOW SILENT 0.77656 0.77660 0.20906 None None None None None None ALK|0.859785808|4.47%
View 013 final 2 rs4358080
dbSNP Clinvar 		30143499 1338.77 G C PASS 1/1 35 SYNONYMOUS_CODING LOW SILENT 0.89377 0.89380 0.09071 None None None None None None ALK|0.859785808|4.47%
View 013 final 2 rs35093491
dbSNP Clinvar 		29543736 1796.77 A G PASS 0/1 168 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01597 0.01597 0.02737 0.91 0.00 None None None None None None ALK|0.859785808|4.47%

ALLC
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 013 final 2 rs13426642
dbSNP Clinvar 		3729254 3820.77 C T PASS 1/1 132 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.19129 0.19130 0.22354 0.21 0.00 None None None None None None ALLC|0.091233568|52.99%
View 013 final 2 rs66473381,rs759577715,rs796898978,rs201406139,rs34308920
dbSNP Clinvar 		3749151 5826.77 GGAA G PASS 1/1 132 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.41194 0.41190 0.49313 None None None None None None ALLC|0.091233568|52.99%

ALMS1
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 013 final 2 rs1052161
dbSNP Clinvar 		73828538 8263.77 G A PASS 1/1 271 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.58227 0.58230 0.46339 0.00 None None None None None None ALMS1|0.012791041|78.65%
View 013 final 2 rs7598901
dbSNP Clinvar 		73675844 3369.77 C T PASS 1/1 110 SYNONYMOUS_CODING LOW SILENT 0.52636 0.52640 0.49481 None None None None None None ALMS1|0.012791041|78.65%
View 013 final 2 rs2037814
dbSNP Clinvar 		73675669 2689.77 T G PASS 1/1 88 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.87220 0.87220 0.11943 0.00 None None None None None None ALMS1|0.012791041|78.65%
View 013 final 2 rs587621330,rs34628045
dbSNP Clinvar 		73675227 5159.77 T TCTC PASS 1/1 115 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE 0.60044 0.60040 0.44921 None None None None None None ALMS1|0.012791041|78.65%
View 013 final 2 rs764804760,rs778948871,rs193922695
dbSNP Clinvar 		73613031 1070.77 T TG... PASS 1/2 23 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None ALMS1|0.012791041|78.65%

ALPP
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 013 final 2 rs13026692
dbSNP Clinvar 		233243981 3161.77 A T PASS 0/1 290 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.38878 0.38880 0.29971 0.04 0.00 None None None None None None ALPP|0.999370882|0.37%