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+ Genes 635

Genes:
ABCC8, ACAT1, ACCS, ACCSL, ACER3, ACP2, ACY3, ADAMTS8, AGBL2, AIP, ALDH3B1, ALDH3B2, ALG9, ALKBH3, ALKBH8, ALX4, AMICA1, AMPD3, ANAPC15, ANGPTL5, ANKK1, ANKRD13D, ANKRD49, ANO1, ANO3, ANO5, ANO9, AP2A2, APIP, APLNR, APOA4, APOC3, ARAP1, ARCN1, ARFGAP2, ARHGAP1, ARHGAP32, ARHGEF12, ARHGEF17, ART1, ART5, ASCL3, ATG13, ATG2A, ATHL1, ATM, B3GNT6, B4GALNT4, BACE1, BAD, BBOX1, BCO2, BDNF, BEST1, BRMS1, BSCL2, BTG4, C11orf16, C11orf21, C11orf24, C11orf35, C11orf42, C11orf45, C11orf48, C11orf49, C11orf52, C11orf68, C11orf82, C11orf96, C1QTNF5, C2CD3, CABP2, CALCA, CARD16, CARNS1, CARS, CASP12, CASP4, CASP5, CAT, CATSPER1, CCDC179, CCDC34, CCDC67, CCDC73, CCDC81, CCDC82, CCDC86, CCDC88B, CCDC90B, CCKBR, CCND1, CD151, CD3G, CD44, CD6, CD82, CDC42BPG, CDHR5, CDON, CEP164, CFL1, CHEK1, CHID1, CHORDC1, CHRM1, CHRNA10, CHST1, CKAP5, CNGA4, CNTN5, COLCA2, COPB1, CORO1B, CPSF7, CREB3L1, CREBZF, CRTAM, CTNND1, CTR9, CTSC, CTSD, CTSW, CTTN, CUL5, CWF19L2, CYB5R2, DAGLA, DAK, DCDC1, DCPS, DDB2, DDI1, DDX25, DEFB108B, DGAT2, DGKZ, DHCR7, DKK3, DLAT, DNAJB13, DNHD1, DRD2, DSCAML1, DTX4, DYNC2H1, EEF1G, EFCAB4A, EFEMP2, EHBP1L1, EHD1, EI24, EIF3F, EIF4G2, ELF5, EML3, EPS8L2, ESRRA, EXPH5, FADS3, FAM160A2, FAM168A, FAM180B, FAM181B, FAM86C1, FAT3, FCHSD2, FDXACB1, FKBP2, FLRT1, FOLH1, FOSL1, FSHB, GAL3ST3, GALNT18, GAS2, GDPD4, GDPD5, GIF, GLB1L2, GLB1L3, GLYAT, GRIK4, GRM5, GSTP1, GYLTL1B, HBB, HEPHL1, HINFP, HPS5, HSD17B12, HSPA8, HSPB2, HTATIP2, HTR3B, HYLS1, HYOU1, IFITM1, IFITM2, IFITM3, IFITM5, IFT46, IGHMBP2, IGSF22, IGSF9B, IL10RA, ILK, INCENP, INS, INSC, IPO7, IRF7, KCNC1, KCNJ11, KCNJ5, KCNK4, KCTD21, KDM2A, KDM4E, KIAA1377, KIAA1549L, KIAA1731, KIRREL3, KLHL35, KRTAP5-10, KRTAP5-3, KRTAP5-5, KRTAP5-6, KRTAP5-8, LAYN, LDHA, LDHAL6A, LDHC, LDLRAD3, LGR4, LIPT2, LMO1, LMO2, LPXN, LRP4, LRP5, LRRC56, LSP1, MACROD1, MADD, MAML2, MAP3K11, MAP6, MCAM, MDK, ME3, MED17, MEN1, METTL12, METTL15, MFRP, MICAL2, MICALCL, MMP1, MMP10, MMP20, MMP27, MMP3, MMP7, MMP8, MOB2, MOGAT2, MPZL3, MRGPRD, MRGPRE, MRGPRF, MRGPRX1, MRGPRX3, MRGPRX4, MRPL23, MRVI1, MS4A10, MS4A12, MS4A13, MS4A14, MS4A15, MS4A3, MS4A4A, MS4A6A, MS4A7, MTCH2, MUC15, MUC2, MUC5B, MUC6, MUS81, MYBPC3, MYO7A, MYRF, NAA40, NAALAD2, NADSYN1, NARS2, NAT10, NAV2, NCAM1, NELL1, NEU3, NFRKB, NLRP14, NLRP6, NLRX1, NOX4, NPAS4, NPAT, NRXN2, NTM, NUCB2, NUDT22, NUDT8, NUMA1, NUP160, NUP98, NXF1, NXPE1, NXPE2, NXPE4, OAF, ODF3, OMP, OR10A2, OR10A6, OR10AG1, OR10G4, OR10G7, OR10G8, OR10G9, OR10Q1, OR10V1, OR10W1, OR1S1, OR1S2, OR2D2, OR2D3, OR4A16, OR4A5, OR4B1, OR4C11, OR4C12, OR4C13, OR4C15, OR4C16, OR4C3, OR4C46, OR4D6, OR4P4, OR4S1, OR4S2, OR4X1, OR51A2, OR51A4, OR51A7, OR51B2, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51I1, OR51I2, OR51L1, OR51Q1, OR51S1, OR51V1, OR52A1, OR52B4, OR52B6, OR52D1, OR52E2, OR52E4, OR52E6, OR52E8, OR52H1, OR52I2, OR52J3, OR52K1, OR52K2, OR52L1, OR52M1, OR52N1, OR52N2, OR52N4, OR52N5, OR52R1, OR52W1, OR56A1, OR56A3, OR5A1, OR5AK2, OR5AR1, OR5AS1, OR5B12, OR5B17, OR5B2, OR5B3, OR5D13, OR5D14, OR5D16, OR5D18, OR5F1, OR5M1, OR5M10, OR5M11, OR5M3, OR5P3, OR5R1, OR5T1, OR5T2, OR5W2, OR6A2, OR6M1, OR6Q1, OR8A1, OR8B2, OR8B3, OR8D4, OR8G1, OR8G5, OR8H1, OR8H2, OR8H3, OR8J1, OR8K1, OR8K3, OR8U1, OR9G1, OR9G4, OR9Q1, OR9Q2, OSBP, OSBPL5, OVCH2, P2RX3, P2RY2, PAAF1, PACSIN3, PAFAH1B2, PAMR1, PANX1, PATE1, PATE4, PCNXL3, PCSK7, PDE2A, PDE3B, PDGFD, PDHX, PDZD3, PEX16, PGM2L1, PGR, PHLDB1, PHRF1, PICALM, PIK3C2A, PITPNM1, PIWIL4, PKP3, PLCB3, PLEKHA7, PLEKHB1, PLET1, PNPLA2, POLD3, POLR2L, POU2F3, PPFIA1, PPFIBP2, PPP1R32, PRDM10, PRDX5, PRG2, PRG3, PRKCDBP, PRMT3, PRPF19, PRR5L, PRRG4, PSMD13, PTGDR2, PTH, PTPN5, PTPRCAP, PTPRJ, PUS3, PVRL1, RAB38, RAB3IL1, RAG1, RAPSN, RARRES3, RBMXL2, RCOR2, RHOD, RIC3, RIC8A, RIN1, RNF121, RNF141, RNF26, RNH1, ROM1, RPS6KA4, RPS6KB2, RPUSD4, RRM1, RRP8, RTN3, SAA1, SAA2, SAA4, SART1, SCGB1C1, SCGB1D2, SCN3B, SCUBE2, SERGEF, SERPINH1, SIAE, SIGIRR, SIPA1, SIRT3, SLC15A3, SLC22A10, SLC22A12, SLC22A18, SLC22A18AS, SLC22A24, SLC22A25, SLC22A8, SLC25A45, SLC36A4, SLC37A2, SLC39A13, SLC5A12, SLC6A5, SMCO4, SMPD1, SMTNL1, SNX15, SNX19, SNX32, SORL1, SPATA19, SPTBN2, SPTY2D1, SRSF8, SSH3, SSRP1, ST14, ST5, STIM1, STK33, STT3A, SUV420H1, SWAP70, SYT8, SYT9, SYTL2, TAGLN, TBC1D10C, TBX10, TCIRG1, TEAD1, TECTA, TH, TM7SF2, TMEM109, TMEM132A, TMEM135, TMEM136, TMEM216, TMEM223, TMEM225, TMEM25, TMEM262, TMEM45B, TMEM9B, TMPRSS13, TMPRSS4, TMPRSS5, TNKS1BP1, TNNI2, TOLLIP, TP53AIP1, TPCN2, TREH, TRIM22, TRIM29, TRIM49, TRIM5, TRIM51, TRIM6, TRIM6-TRIM34, TRIM66, TRPC6, TRPM5, TSGA10IP, TSKU, TSPAN32, TSPAN4, TSSC4, TTC9C, UBASH3B, UBQLN3, UBQLNL, UCP3, UNC93B1, USH1C, USP2, USP28, USP35, USP47, VPS11, VPS26B, VWA5A, WNT11, ZBTB3, ZC3H12C, ZDHHC13, ZDHHC5, ZFP91, ZNF143, ZNF195, ZNF202, ZNF214, ZNF215, ZNHIT2, ZP1,

+ Genes associated with diseases 114

Genes at Omim

ABCC8, ACAT1, ACER3, ACP2, AIP, ALG9, ALX4, AMPD3, ANO3, ANO5, APOC3, ARCN1, ATM, BEST1, BSCL2, C1QTNF5, C2CD3, CABP2, CASP12, CAT, CATSPER1, CCND1, CD151, CD3G, CD44, CDON, CEP164, CREB3L1, CTNND1, CTSC, CTSD, DCPS, DDB2, DHCR7, DLAT, DNAJB13, DYNC2H1, EFEMP2, EIF3F, EPS8L2, EXPH5, FSHB, GIF, HBB, HPS5, HYLS1, HYOU1, IFITM3, IFITM5, IGHMBP2, IL10RA, INS, IRF7, KCNC1, KCNJ11, KCNJ5, LDHA, LGR4, LIPT2, LMO1, LMO2, LRP4, LRP5, LRRC56, MAML2, MED17, MEN1, MFRP, MMP1, MMP20, MMP3, MUC5B, MYBPC3, MYO7A, MYRF, NARS2, NUMA1, NUP160, PDHX, PEX16, PGR, PICALM, PNPLA2, PTH, PTPRJ, PUS3, RAG1, RAPSN, ROM1, SCN3B, SERPINH1, SIAE, SLC22A12, SLC39A13, SLC6A5, SMPD1, SPTBN2, ST14, STIM1, STT3A, TCIRG1, TEAD1, TECTA, TH, TMEM216, TNNI2, TPCN2, TREH, TRPC6, UCP3, UNC93B1, USH1C, VPS11, ZP1,
ABCC8 Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3)
Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
Diabetes mellitus, noninsulin-dependent, 125853 (3)
Diabetes mellitus, permanent neonatal, 606176 (3)
Diabetes mellitus, transient neonatal 2, 610374 (3)
ACAT1 Alpha-methylacetoacetic aciduria, 203750 (3)
ACER3 ?Leukodystrophy, progressive, early childhood-onset, 617762 (3)
ACP2 ?Lysosomal acid phosphatase deficiency, 200950 (1)
AIP Pituitary adenoma 1, multiple types, 102200 (3)
Pituitary adenoma predisposition, 102200 (3)
ALG9 Gillessen-Kaesbach-Nishimura syndrome, 263210 (3)
Congenital disorder of glycosylation, type Il, 608776 (3)
ALX4 Frontonasal dysplasia 2, 613451 (3)
Parietal foramina 2, 609597 (3)
{Craniosynostosis 5, susceptibility to}, 615529 (3)
AMPD3 [AMP deaminase deficiency, erythrocytic], 612874 (3)
ANO3 Dystonia 24, 615034 (3)
ANO5 Gnathodiaphyseal dysplasia, 166260 (3)
Miyoshi muscular dystrophy 3, 613319 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 12, 611307 (3)
APOC3 Apolipoprotein C-III deficiency, 614028 (3)
ARCN1 Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164 (3)
ATM Ataxia-telangiectasia, 208900 (3)
Lymphoma, B-cell non-Hodgkin, somatic (3)
Lymphoma, mantle cell, somatic (3)
T-cell prolymphocytic leukemia, somatic (3)
{Breast cancer, susceptibility to}, 114480 (3)
BEST1 Bestrophinopathy, autosomal recessive, 611809 (3)
Macular dystrophy, vitelliform, 2, 153700 (3)
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220 (3)
Retinitis pigmentosa, concentric, 613194 (3)
Retinitis pigmentosa-50, 613194 (3)
Vitreoretinochoroidopathy, 193220 (3)
BSCL2 Lipodystrophy, congenital generalized, type 2, 269700 (3)
Encephalopathy, progressive, with or without lipodystrophy, 615924 (3)
Neuropathy, distal hereditary motor, type VA, 600794 (3)
Silver spastic paraplegia syndrome, 270685 (3)
C1QTNF5 Retinal degeneration, late-onset, autosomal dominant, 605670 (3)
C2CD3 ?Orofaciodigital syndrome XIV, 615948 (3)
CABP2 Deafness, autosomal recessive 93, 614899 (3)
CASP12 {Sepsis, susceptibility to} (3)
CAT Acatalasemia, 614097 (3)
CATSPER1 Spermatogenic failure 7, 612997 (3)
CCND1 {Multiple myeloma, susceptibility to}, 254500 (3)
{von Hippel-Lindau syndrome, modifier of}, 193300 (3)
{Colorectal cancer, susceptibility to}, 114500 (3)
CD151 Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 (3)
[Blood group, Raph], 179620 (3)
CD3G Immunodeficiency 17, CD3 gamma deficient, 615607 (3)
CD44 [Blood group, Indian system], 609027 (3)
CDON Holoprosencephaly 11, 614226 (3)
CEP164 Nephronophthisis 15, 614845 (3)
CREB3L1 Osteogenesis imperfecta, type XVI, 616229 (3)
CTNND1 Blepharocheilodontic syndrome 2, 617681 (3)
CTSC Haim-Munk syndrome, 245010 (3)
Papillon-Lefevre syndrome, 245000 (3)
Periodontitis 1, juvenile, 170650 (3)
CTSD Ceroid lipofuscinosis, neuronal, 10, 610127 (3)
DCPS Al-Raqad syndrome, 616459 (3)
DDB2 Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 (3)
DHCR7 Smith-Lemli-Opitz syndrome, 270400 (3)
DLAT Pyruvate dehydrogenase E2 deficiency, 245348 (3)
DNAJB13 Ciliary dyskinesia, primary, 34, 617091 (3)
DYNC2H1 Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3)
EFEMP2 Cutis laxa, autosomal recessive, type IB, 614437 (3)
EIF3F Mental retardation, autosomal recessive 67, 618295 (3)
EPS8L2 Deafness autosomal recessive 106, 617637 (3)
EXPH5 Epidermolysis bullosa, nonspecific, autosomal recessive, 615028 (3)
FSHB Hypogonadotropic hypogonadism 24 without anosmia, 229070 (3)
GIF Intrinsic factor deficiency, 261000 (3)
HBB Heinz body anemia, 140700 (3)
Hereditary persistence of fetal hemoglobin, 141749 (3)
{Malaria, resistance to}, 611162 (3)
Delta-beta thalassemia, 141749 (3)
Erythrocytosis 6, 617980 (3)
Methmoglobinemia, beta type, 617971 (3)
Sickle cell anemia, 603903 (3)
Thalassemia, beta, 613985 (3)
Thalassemia-beta, dominant inclusion-body, 603902 (3)
HPS5 Hermansky-Pudlak syndrome 5, 614074 (3)
HYLS1 Hydrolethalus syndrome, 236680 (3)
HYOU1 ?Immunodeficiency 59 and hypoglycemia, 233600 (3)
IFITM3 {Influenza, severe, susceptibility to}, 614680 (3)
IFITM5 Osteogenesis imperfecta, type V, 610967 (3)
IGHMBP2 Charcot-Marie-Tooth disease, axonal, type 2S, 616155 (3)
Neuronopathy, distal hereditary motor, type VI, 604320 (3)
IL10RA Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 (3)
INS Hyperproinsulinemia, 616214 (3)
Diabetes mellitus, insulin-dependent, 2, 125852 (3)
Diabetes mellitus, permanent neonatal, 606176 (3)
Maturity-onset diabetes of the young, type 10, 613370 (3)
IRF7 ?Immunodeficiency 39, 616345 (3)
KCNC1 Epilepsy, progressive myoclonic 7, 616187 (3)
KCNJ11 Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3)
Diabetes mellitus, transient neonatal, 3, 610582 (3)
Diabetes, permanent neonatal, with or without neurologic features, 606176 (3)
Maturity-onset diabetes of the young, type 13, 616329 (3)
{Diabetes mellitus, type 2, susceptibility to}, 125853 (3)
KCNJ5 Hyperaldosteronism, familial, type III, 613677 (3)
Long QT syndrome 13, 613485 (3)
LDHA Glycogen storage disease XI, 612933 (3)
LGR4 {Bone mineral density, low, susceptibility to}, 615311 (3)
LIPT2 Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 (3)
LMO1 Leukemia, T-cell acute lymphoblastic (2)
LMO2 Leukemia, acute T-cell (2)
LRP4 Cenani-Lenz syndactyly syndrome, 212780 (3)
?Myasthenic syndrome, congenital, 17, 616304 (3)
Sclerosteosis 2, 614305 (3)
LRP5 Hyperostosis, endosteal, 144750 (3)
{Osteoporosis}, 166710 (3)
Exudative vitreoretinopathy 4, 601813 (3)
Osteopetrosis, autosomal dominant 1, 607634 (3)
Osteoporosis-pseudoglioma syndrome, 259770 (3)
Osteosclerosis, 144750 (3)
Polycystic liver disease 4 with or without kidney cysts, 617875 (3)
[Bone mineral density variability 1], 601884 (3)
van Buchem disease, type 2, 607636 (3)
LRRC56 Ciliary dyskinesia, primary, 39, 618254 (3)
MAML2 Mucoepidermoid salivary gland carcinoma (3)
MED17 Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3)
MEN1 Adrenal adenoma, somatic (3)
Angiofibroma, somatic (3)
Carcinoid tumor of lung (3)
Lipoma, somatic (3)
Multiple endocrine neoplasia 1, 131100 (3)
Parathyroid adenoma, somatic (3)
MFRP Microphthalmia, isolated 5, 611040 (3)
Nanophthalmos 2, 609549 (3)
MMP1 COPD, rate of decline of lung function in, 606963 (3)
{Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600 (3)
MMP20 Amelogenesis imperfecta, type IIA2, 612529 (3)
MMP3 {Coronary heart disease, susceptibility to, 6}, 614466 (3)
MUC5B {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)
MYBPC3 Cardiomyopathy, dilated, 1MM, 615396 (3)
Cardiomyopathy, hypertrophic, 4, 115197 (3)
Left ventricular noncompaction 10, 615396 (3)
MYO7A Deafness, autosomal dominant 11, 601317 (3)
Deafness, autosomal recessive 2, 600060 (3)
Usher syndrome, type 1B, 276900 (3)
MYRF Cardiac-urogenital syndrome, 618280 (3)
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization, 618113 (3)
NARS2 Combined oxidative phosphorylation deficiency 24, 616239 (3)
NUMA1 Leukemia, acute promyelocytic, somatic, 612376 (3)
NUP160 ?Nephrotic syndrome, type 19, 618178 (3)
PDHX Lacticacidemia due to PDX1 deficiency, 245349 (3)
PEX16 Peroxisome biogenesis disorder 8A (Zellweger), 614876 (3)
Peroxisome biogenesis disorder 8B, 614877 (3)
PGR ?Progesterone resistance, 264080 (2)
PICALM Leukemia, acute myeloid, somatic, 601626 (3)
PNPLA2 Neutral lipid storage disease with myopathy, 610717 (3)
PTH Hypoparathyroidism, autosomal dominant, 146200 (3)
Hypoparathyroidism, autosomal recessive, 146200 (3)
PTPRJ Colon cancer, somatic, 114500 (3)
PUS3 Mental retardation, autosomal recessive 55, 617051 (3)
RAG1 Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889 (3)
Combined cellular and humoral immune defects with granulomas, 233650 (3)
Omenn syndrome, 603554 (3)
Severe combined immunodeficiency, B cell-negative, 601457 (3)
RAPSN Fetal akinesia deformation sequence, 208150 (3)
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 (3)
ROM1 Retinitis pigmentosa 7, digenic form, 608133 (3)
SCN3B Atrial fibrillation, familial, 16, 613120 (3)
Brugada syndrome 7, 613120 (3)
SERPINH1 {Preterm premature rupture of the membranes, susceptibility to}, 610504 (3)
Osteogenesis imperfecta, type X, 613848 (3)
SIAE {Autoimmune disease, susceptibility to, 6}, 613551 (3)
SLC22A12 Hypouricemia, renal, 220150 (3)
SLC39A13 Ehlers-Danlos syndrome, spondylodysplastic type, 3, 612350 (3)
SLC6A5 Hyperekplexia 3, 614618 (3)
SMPD1 Niemann-Pick disease, type A, 257200 (3)
Niemann-Pick disease, type B, 607616 (3)
SPTBN2 Spinocerebellar ataxia 5, 600224 (3)
Spinocerebellar ataxia, autosomal recessive 14, 615386 (3)
ST14 Ichthyosis, congenital, autosomal recessive 11, 602400 (3)
STIM1 Immunodeficiency 10, 612783 (3)
Myopathy, tubular aggregate, 1 160565 (3)
Stormorken syndrome, 185070 (3)
STT3A ?Congenital disorder of glycosylation, type Iw, 615596 (3)
TCIRG1 Osteopetrosis, autosomal recessive 1, 259700 (3)
TEAD1 Sveinsson chorioretinal atrophy, 108985 (3)
TECTA Deafness, autosomal dominant 8/12, 601543 (3)
Deafness, autosomal recessive 21, 603629 (3)
TH Segawa syndrome, recessive, 605407 (3)
TMEM216 Joubert syndrome 2, 608091 (3)
Meckel syndrome 2, 603194 (3)
TNNI2 Arthrogryposis multiplex congenita, distal, type 2B, 601680 (3)
TPCN2 [Skin/hair/eye pigmentation 10, blond/brown hair], 612267 (3)
TREH Trehalase deficiency, 612119 (3)
TRPC6 Glomerulosclerosis, focal segmental, 2, 603965 (3)
UCP3 {Obesity, severe, and type II diabetes}, 601665 (3)
UNC93B1 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 (3)
USH1C Deafness, autosomal recessive 18A, 602092 (3)
Usher syndrome, type 1C, 276904 (3)
VPS11 Leukodystrophy, hypomyelinating, 12, 616683 (3)
ZP1 Oocyte maturation defect 1, 615774 (3)

Genes at Clinical Genomics Database

ABCC8, ACAT1, AIP, ALG9, ALX4, AMPD3, ANO3, ANO5, APOC3, ATM, BDNF, BEST1, BSCL2, C1QTNF5, C2CD3, CABP2, CAT, CD151, CD3G, CD44, CDON, CEP164, CREB3L1, CTSC, CTSD, DCPS, DDB2, DHCR7, DLAT, DRD2, DYNC2H1, EFEMP2, EXPH5, FSHB, GIF, GRIK4, HBB, HPS5, HYLS1, IFITM5, IGHMBP2, IL10RA, INS, IRF7, KCNC1, KCNJ11, KCNJ5, KIRREL3, LDHA, LRP4, LRP5, MED17, MEN1, MFRP, MMP20, MYBPC3, MYO7A, NARS2, NPAT, PDHX, PEX16, PNPLA2, PTH, RAG1, RAPSN, ROM1, SCN3B, SERPINH1, SLC22A12, SLC39A13, SLC6A5, SMPD1, SPTBN2, ST14, STIM1, STT3A, TCIRG1, TEAD1, TECTA, TH, TMEM216, TNNI2, TPCN2, TRPC6, UNC93B1, USH1C, VPS11, ZP1,
ABCC8 Diabetes mellitus, transient neonatal, 2
Diabetes, permanent neonatal
Hyperinsulinemic hypoglycemia, familial, 1
Hypoglycemia, leucine-induced
ACAT1 Alpha-methylacetoacetic aciduria
AIP Pituitary adenoma, familial isolated
ALG9 Congenital disorder of glycosylation, type Il
ALX4 Parietal foramina 2
Frontonasal dysplasia 2
AMPD3 Erythrocytic AMP deaminase deficiency
ANO3 Craniocervical dystonia, autosomal dominant (Dystonia 24)
ANO5 Gnathodiaphyseal dysplasia
APOC3 Apolipoprotein C-III deficiency
ATM Breast cancer, susceptibility to
Ataxia-Telangiectasia
BDNF Central hypoventilation syndrome, congenital
BEST1 Vitreoretinochoroidopathy
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
BSCL2 Lipodystrophy, congenital generalized, type 2
Encephalopathy, progressive, with or without lipodystrophy
C1QTNF5 Late-onset retinal degeneration
C2CD3 Orofaciodigital syndrome XIV
CABP2 Deafness, autosomal recessive 93
CAT Acatalasemia
CD151 Raph blood group
CD3G Immunodeficiency 17
CD44 Blood group, Indian
CDON Holoprosencephaly 11
CEP164 Nephronophthisis 15
CREB3L1 Osteogenesis imperfecta, type XVI
CTSC Haim-Munk syndrome
Papillon-Lefevre syndrome
Periodontitis 1, juvenile
CTSD Ceroid lipofuscinosis, neuronal, 10
DCPS Al-Raqad syndrome
DDB2 Xeroderma pigmentosum, group E
DHCR7 Smith-Lemli-Opitz syndrome
DLAT Pyruvate dehydrogenase E2 deficiency
DRD2 Myoclonic dystonia
DYNC2H1 Short-rib thoracic dysplasia 3 with or without polydactyly
EFEMP2 Cutis laxa, autosomal recessive type IB
EXPH5 Epidermolysis bullosa, nonspecific, autosomal recessive
FSHB Hypogonadotropic hypogonadism 24 without anosmia
GIF Intrinsic factor deficiency
GRIK4 Response to antidepressant treatment with citalopram
HBB Beta-thalassemia
Sickle cell disease
Thalassemia-beta, dominant inclusion body
Other Thalassemias/Hemoglobinopathies
HPS5 Hermansky-Pudlak syndrome 5
HYLS1 Hydrolethalus syndrome
IFITM5 Osteogenesis imperfecta, type V
IGHMBP2 Spinal muscular atrophy, distal, autosomal recessive, 1
Charcot-Marie-Tooth disease, axonal, type 2S
IL10RA Inflammatory bowel disease 28, autosomal recessive
INS Diabetes mellitus, permanent neonatal
IRF7 Immunodeficiency 39
KCNC1 Epilepsy, progressive myoclonic 7
KCNJ11 Hyperinsulinemic hypoglycemia, familial, 2
Diabetes mellitus, transient neonatal, 3
Diabetes, permanent neonatal
Diabetes, permanent neonatal, with Neurologic features
KCNJ5 Long QT syndrome 13
Hyperaldosteronism, familial, type III
KIRREL3 Mental retardation, autosomal dominant 4
LDHA Glycogen storage disease XI
LRP4 Cenani-Lenz syndactyly syndrome
Myasthenic syndrome, congenital 17
Sclerosteosis 2
LRP5 van Buchem disease, type 2
Osteopetrosis, autosomal dominant 1
Osteosclerosis
Hyperostosis, endosteal
Exudative vitreoretinopathy 4
Osteoporosis-pseudoglioma syndrome
MED17 Microcephaly, postnatal progressive, with seizures and brain atrophy
MEN1 Multiple endocrine neoplasia type I
Hyperparathyroidism, familial primary
MFRP Microphthalmia, isolated 5
Nanophthalmos 2
Retinitis pigmentosa, autosomal recessive
MMP20 Amelogenesis imperfecta, hypomaturation type, IIA2
MYBPC3 Cardiomyopathy, familial hypertrophic, 4
Cardiomyopathy, dilated, 1MM
Left ventricular noncompaction 10
MYO7A Deafness, autosomal recessive 2
Usher syndrome, type 1B
NARS2 Combined oxidative phosphorylation deficiency 24
NPAT Nodular lymphocyte predominant Hodgkin lymphoma, familial
PDHX Pyruvate dehydrogenase E3-binding protein deficiency
PEX16 Peroxisome biogenesis factor disorder 16
PNPLA2 Neutral lipid storage disease with myopathy
PTH Hypoparathyroidism, familial isolated
RAG1 T cell-negative, B cell-negative, natural killer cell-positive severe combined immunodeficiency
Omenn syndrome
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity
Combined cellular and humoral immune defects with granulomas
RAPSN Myasthenic syndrome, congenital 11, associated with acetylcholine receptor deficiency
ROM1 Retinitis pigmentosa 7, digenic
SCN3B Brugada syndrome 7
Atrial fibrillation, familial 16
SERPINH1 Osteogenesis imperfecta, type X
SLC22A12 Hypouricemia, renal 1
SLC39A13 Spondylocheirodysplasia, Ehlers-Danlos syndrome-like
SLC6A5 Hyperekplexia 3
SMPD1 Niemann-Pick disease, type A
Niemann-Pick disease, type B
SPTBN2 Spinocerebellar ataxia 5, autosomal dominant
Spinocerebellar ataxia 14, autosomal recessive
ST14 Ichthyosis, congenital, autosomal recessive 11
STIM1 Stormorken syndrome
Immunodeficiency 10
STT3A Congenital disorder of glycosylation, type Iw
TCIRG1 Osteopetrosis, autosomal recessive 1
TEAD1 Sveinsson choreoretinal atrophy
TECTA Deafness, autosomal recessive 21
Deafness, autosomal dominant 8/12
TH Segawa syndrome, autosomal recessive
TMEM216 Joubert syndrome 2
Meckel syndrome 2
TNNI2 Arthrogryposis multiplex congenita, distal, type 2B
TPCN2 Skin/hair/eye pigmentation, variation in, 10
TRPC6 Focal segmental glomerulosclerosis 2
UNC93B1 Herpes simplex encephalitis, susceptibility to, 1
USH1C Usher syndrome, type IC
Deafness, autosomal recessive 18A
VPS11 Leukodystrophy, hypomyelinating 12
ZP1 Oocyte maturation defect 1

Genes at HGMD

Summary

Number of Variants: 2535
Number of Genes: 635

Export to: CSV

PSMD13
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 sp16_multisample SP16_819 11 rs10902112
dbSNP Clinvar 		244106 490.93 A G PASS 0/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.81530 0.81530 0.23877 0.15 0.00 -1.16 None None None None None None PSMD13|0.24392326|32.1%
View sp16_multisample SP16_819 11 rs7107362
dbSNP Clinvar 		244108 504.76 A G PASS 0/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.81530 0.81530 0.23823 0.15 0.04 -0.42 None None None None None None PSMD13|0.24392326|32.1%
View sp16_multisample SP16_819 11 rs7128044
dbSNP Clinvar 		244115 503.08 G A PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.81530 0.81530 0.22614 0.73 0.59 -0.65 None None None None None None PSMD13|0.24392326|32.1%
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 sp16_multisample SP16_819 11 rs2294083
dbSNP Clinvar 		193698 98.46 C T PASS 0/1 45 None None None 0.14152 None None None None None None None

SCGB1C1
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 sp16_multisample SP16_819 11 rs2294082
dbSNP Clinvar 		193722 100.76 A G PASS 0/1 43 SYNONYMOUS_CODING LOW None 0.10282 None None None None None None None
View sp16_multisample SP16_819 11 rs2294081
dbSNP Clinvar 		193863 412.7 T C PASS 0/1 61 SYNONYMOUS_CODING LOW None 0.75080 0.75080 0.39723 None None None None None None None
View sp16_multisample SP16_819 11 rs2686894
dbSNP Clinvar 		193865 163.6 T G PASS 0/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.49301 0.49300 0.00 0.94 4.38 None None None None None None None
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 sp16_multisample SP16_819 11 rs2294080
dbSNP Clinvar 		193925 45.87 G A PASS 0/1 51 None None None 0.10059 None None None None None None None

SCGB1C1
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 sp16_multisample SP16_819 11 rs61997072
dbSNP Clinvar 		194441 102.31 C T PASS 0/1 92 SYNONYMOUS_CODING LOW None 0.11129 None None None None None None None

PSMD13
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 sp16_multisample SP16_819 11 rs7116130
dbSNP Clinvar 		244129 516.02 C T PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.81530 0.81530 0.22277 0.18 0.00 2.12 None None None None None None PSMD13|0.24392326|32.1%

ODF3
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 sp16_multisample SP16_819 11 rs3802984
dbSNP Clinvar 		197337 127.35 G A PASS 0/1 111 SYNONYMOUS_CODING LOW None 0.41274 0.41270 0.23601 None None None None None None ODF3|0.054317165|61.39%
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 sp16_multisample SP16_819 11 rs7103852
dbSNP Clinvar 		197557 415.73 A G PASS 1/1 74 None None None 0.84485 0.84480 0.18625 None None None None None None ODF3|0.054317165|61.39%
View sp16_multisample SP16_819 11 rs3837432
dbSNP Clinvar 		205757 76.77 AA... A PASS 0/1 134 None None None 0.30391 0.30390 None None None None None None None

RIC8A
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 sp16_multisample SP16_819 11 rs3832797
dbSNP Clinvar 		209894 28.27 ACCC A PASS 0/1 116 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.41394 0.41390 0.32010 None None None None None None RIC8A|0.023059268|72.67%

PSMD13
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 sp16_multisample SP16_819 11 rs7128029
dbSNP Clinvar 		244141 497.54 G A PASS 0/1 74 NON_SYNONYMOUS_CODING MODERATE None 0.81530 0.81530 0.22178 0.14 0.00 0.81 None None None None None None PSMD13|0.24392326|32.1%
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 sp16_multisample SP16_819 11 rs1533825
dbSNP Clinvar 		214163 163.86 G A PASS 0/1 77 None None None 0.17971 0.17970 None None None None None None RIC8A|0.023059268|72.67%
View sp16_multisample SP16_819 11 rs1533824
dbSNP Clinvar 		214169 162.79 T C PASS 0/1 77 None None None 0.19509 0.19510 None None None None None None RIC8A|0.023059268|72.67%
View sp16_multisample SP16_819 11 rs511744
dbSNP Clinvar 		219089 394.57 T C PASS 0/1 128 None None None 0.67472 0.67470 0.27804 None None None None None None SIRT3|0.04850739|63.11%

SIRT3
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 sp16_multisample SP16_819 11 rs28365927
dbSNP Clinvar 		236091 100.21 G A PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.16014 0.16010 0.12202 0.00 0.69 4.24 None None None None None None SIRT3|0.04850739|63.11%

PSMD13
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 sp16_multisample SP16_819 11 rs1045288
dbSNP Clinvar 		237087 171.9 A G PASS 0/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.81709 0.81710 0.20883 1.00 0.00 -0.12 None None None None None None PSMD13|0.24392326|32.1%
View sp16_multisample SP16_819 11 rs1128320
dbSNP Clinvar 		244167 524.21 C T PASS 0/1 73 SYNONYMOUS_CODING LOW None 0.81530 0.81530 0.21828 None None None None None None PSMD13|0.24392326|32.1%
View sp16_multisample SP16_819 11 rs1128321
dbSNP Clinvar 		244171 520.89 T C PASS 0/1 73 SYNONYMOUS_CODING LOW None 0.81510 0.81510 0.21936 None None None None None None PSMD13|0.24392326|32.1%
View sp16_multisample SP16_819 11 rs1128322
dbSNP Clinvar 		244197 527.18 T C PASS 0/1 73 SYNONYMOUS_CODING LOW None 0.81530 0.81530 0.21109 None None None None None None PSMD13|0.24392326|32.1%
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 sp16_multisample SP16_819 11 rs2272565
dbSNP Clinvar 		244414 413.19 C T PASS 0/1 87 None None None 0.81530 0.81530 0.21044 None None None None None None PSMD13|0.24392326|32.1%
View sp16_multisample SP16_819 11 rs796732646,rs3830667
dbSNP Clinvar 		244490 201.05 AT... A PASS 0/1 97 None None None 0.81530 0.81530 None None None None None None PSMD13|0.24392326|32.1%
View sp16_multisample SP16_819 11 rs2272566
dbSNP Clinvar 		244552 282.35 A G PASS 0/1 87 None None None 0.72344 0.72340 None None None None None None PSMD13|0.24392326|32.1%

NLRP6
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 sp16_multisample SP16_819 11 rs11246050
dbSNP Clinvar 		284257 62.14 G A PASS 0/1 14 SYNONYMOUS_CODING LOW None 0.13918 0.13920 0.12648 None None None None None None NLRP6|0.003459946|87.83%
View sp16_multisample SP16_819 11 rs6598047
dbSNP Clinvar 		284538 691.12 T C PASS 0/1 132 SYNONYMOUS_CODING LOW None 0.54713 0.54710 0.28787 None None None None None None NLRP6|0.003459946|87.83%

ATHL1
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 sp16_multisample SP16_819 11 rs3809110
dbSNP Clinvar 		290494 61.62 C T PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.09685 0.09685 0.03484 0.00 0.99 6.34 None None None None None None ATHL1|0.004993482|85.83%
View sp16_multisample SP16_819 11 rs10902120
dbSNP Clinvar 		290816 864.46 A G PASS 1/1 86 SYNONYMOUS_CODING LOW None 0.66653 0.66650 0.24873 None None None None None None ATHL1|0.004993482|85.83%
View sp16_multisample SP16_819 11 rs72636977
dbSNP Clinvar 		290891 231.48 T C PASS 0/1 100 SYNONYMOUS_CODING LOW None 0.18490 0.18490 0.08573 None None None None None None ATHL1|0.004993482|85.83%
View sp16_multisample SP16_819 11 rs72636978
dbSNP Clinvar 		290918 234.55 G A PASS 0/1 105 SYNONYMOUS_CODING LOW None 0.18091 0.18090 0.08350 None None None None None None ATHL1|0.004993482|85.83%
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 sp16_multisample SP16_819 11 rs11602423
dbSNP Clinvar 		292798 290.05 A G PASS 0/1 145 None None None 0.52636 0.52640 None None None None None None ATHL1|0.004993482|85.83%

ATHL1
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 sp16_multisample SP16_819 11 rs12801980
dbSNP Clinvar 		293188 342.04 T C PASS 1/1 76 SYNONYMOUS_CODING LOW None 0.40076 0.40080 0.33854 None None None None None None ATHL1|0.004993482|85.83%

IFITM5
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 sp16_multisample SP16_819 11 rs57285449
dbSNP Clinvar 		299411 217.19 C G PASS 1/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.59265 0.59270 0.38807 0.20 0.10 -0.14 None None rs57285449 2 not_specified 2 IFITM5|0.07375105|56.57%

TRPM5
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 sp16_multisample SP16_819 11 rs3986599
dbSNP Clinvar 		2439542 345.45 A G PASS 1/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.84325 0.84330 0.24903 1.00 0.00 None None None None None None TRPM5|0.01524992|76.97%

OR51S1
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 sp16_multisample SP16_819 11 rs11602455
dbSNP Clinvar 		4870139 290.05 G A PASS 0/1 42 SYNONYMOUS_CODING LOW None 0.23862 0.23860 0.34159 None None None None None None MMP26|0.003581364|87.64%,OR51S1|0.015412344|76.87%
View sp16_multisample SP16_819 11 rs11602499
dbSNP Clinvar 		4870261 466.21 G C PASS 0/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.27416 0.27420 0.37983 1.00 0.00 None None None None None None MMP26|0.003581364|87.64%,OR51S1|0.015412344|76.87%
View sp16_multisample SP16_819 11 rs11601065
dbSNP Clinvar 		4870298 477.43 T G PASS 0/1 77 SYNONYMOUS_CODING LOW None 0.16853 0.16850 0.21149 None None None None None None MMP26|0.003581364|87.64%,OR51S1|0.015412344|76.87%

OR51A7
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 sp16_multisample SP16_819 11 rs7941509
dbSNP Clinvar 		4928866 376.02 C T PASS 0/1 76 SYNONYMOUS_CODING LOW None 0.39836 0.39840 0.48954 None None None None None None MMP26|0.003581364|87.64%,OR51A7|0.034544697|67.61%

OR51Q1
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 sp16_multisample SP16_819 11 rs2736590
dbSNP Clinvar 		5443442 369.39 G C PASS 1/1 56 SYNONYMOUS_CODING LOW None 0.47564 0.47560 0.38196 None None None None None None HBG2|0.024133976|72.16%,HBE1|0.598378504|11.81%,OR51Q1|0.017477394|75.61%

OR51G1
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 sp16_multisample SP16_819 11 rs1378739
dbSNP Clinvar 		4945196 782.31 T G PASS 1/1 90 NON_SYNONYMOUS_CODING MODERATE None 0.65735 0.65730 0.37967 0.00 0.84 None None None None None None MMP26|0.003581364|87.64%,OR51G1|0.015706346|76.63%

OR51A4
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 sp16_multisample SP16_819 11 rs28698374
dbSNP Clinvar 		4967468 720.89 G A PASS 1/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.84884 0.84880 0.16659 1.00 0.00 None None None None None None MMP26|0.003581364|87.64%,OR51A4|0.002188104|90.46%

OR51V1
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 sp16_multisample SP16_819 11 rs11036212
dbSNP Clinvar 		5221825 404.97 G A PASS 1/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.59665 0.59660 0.26997 0.07 0.00 None None None None None None OR51V1|0.004653668|86.28%

HBB
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 sp16_multisample SP16_819 11 rs713040
dbSNP Clinvar 		5248243 459.28 A G PASS 1/1 81 SYNONYMOUS_CODING LOW None 0.71426 0.71430 0.15133 None None None None None None HBB|0.071313084|57.13%

OR51Q1
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 sp16_multisample SP16_819 11 rs2736588
dbSNP Clinvar 		5443700 1269.59 C T PASS 1/1 199 SYNONYMOUS_CODING LOW None 0.45367 0.45370 0.36203 None None None None None None HBG2|0.024133976|72.16%,HBE1|0.598378504|11.81%,OR51Q1|0.017477394|75.61%
View sp16_multisample SP16_819 11 rs2736587
dbSNP Clinvar 		5443739 1168.83 T C PASS 1/1 199 SYNONYMOUS_CODING LOW None 0.45367 0.45370 0.36203 None None None None None None HBG2|0.024133976|72.16%,HBE1|0.598378504|11.81%,OR51Q1|0.017477394|75.61%

ANO3
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 sp16_multisample SP16_819 11 rs7946841
dbSNP Clinvar 		26656563 296.73 C T PASS 0/1 128 SYNONYMOUS_CODING LOW None 0.34125 0.34130 0.35535 None None None None None None ANO3|0.315688772|26.37%

OR51Q1
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 sp16_multisample SP16_819 11 rs10838092
dbSNP Clinvar 		5443867 446.89 C T PASS 1/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.45367 0.45370 0.36165 1.00 0.00 None None None None None None HBG2|0.024133976|72.16%,HBE1|0.598378504|11.81%,OR51Q1|0.017477394|75.61%
View sp16_multisample SP16_819 11 rs10838093
dbSNP Clinvar 		5443887 460.95 T C PASS 1/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.45367 0.45370 0.36057 1.00 0.00 None None None None None None HBG2|0.024133976|72.16%,HBE1|0.598378504|11.81%,OR51Q1|0.017477394|75.61%
View sp16_multisample SP16_819 11 rs10838094
dbSNP Clinvar 		5443893 449.2 G A PASS 1/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.45367 0.45370 0.36088 0.34 0.03 None None None None None None HBG2|0.024133976|72.16%,HBE1|0.598378504|11.81%,OR51Q1|0.017477394|75.61%
View sp16_multisample SP16_819 11 rs10838095
dbSNP Clinvar 		5443963 440.34 G A PASS 1/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.45347 0.45350 0.36188 1.00 0.00 None None None None None None HBG2|0.024133976|72.16%,HBE1|0.598378504|11.81%,OR51Q1|0.017477394|75.61%
View sp16_multisample SP16_819 11 rs58283839
dbSNP Clinvar 		5443969 295.01 A C PASS 1/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.13299 0.13300 0.01831 0.00 1.00 None None None None None None HBG2|0.024133976|72.16%,HBE1|0.598378504|11.81%,OR51Q1|0.017477394|75.61%
View sp16_multisample SP16_819 11 rs2736586
dbSNP Clinvar 		5444061 582.02 G A PASS 1/1 83 NON_SYNONYMOUS_CODING MODERATE None 0.45367 0.45370 0.36203 0.29 0.01 None None None None None None HBG2|0.024133976|72.16%,HBE1|0.598378504|11.81%,OR51Q1|0.017477394|75.61%
View sp16_multisample SP16_819 11 rs2647574
dbSNP Clinvar 		5444136 487.44 C T PASS 1/1 68 STOP_GAINED HIGH None 0.45387 0.45390 0.36196 None None None None None None HBG2|0.024133976|72.16%,HBE1|0.598378504|11.81%,OR51Q1|0.017477394|75.61%
View sp16_multisample SP16_819 11 rs2647573
dbSNP Clinvar 		5444353 366.76 T C PASS 1/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.45367 0.45370 0.35980 0.03 0.04 None None None None None None HBG2|0.024133976|72.16%,HBE1|0.598378504|11.81%,OR51Q1|0.017477394|75.61%

OR52L1
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 sp16_multisample SP16_819 11 rs4354673
dbSNP Clinvar 		6007613 411.11 T G PASS 0/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.71226 0.71230 0.29786 0.01 0.26 None None None None None None OR52L1|0.0112571|79.84%

OR8H2
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 sp16_multisample SP16_819 11 rs2512961
dbSNP Clinvar 		55872876 881.15 C T PASS 1/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.95947 0.95950 0.06305 1.00 0.00 None None None None None None OR8H2|0.002122239|90.67%

OR51I1
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 sp16_multisample SP16_819 11 rs1498486
dbSNP Clinvar 		5461991 241.68 C A PASS 0/1 127 NON_SYNONYMOUS_CODING MODERATE None 0.30332 0.30330 0.42983 0.00 0.68 None None None None None None HBG2|0.024133976|72.16%,HBE1|0.598378504|11.81%,OR51I1|0.041373753|65.35%
View sp16_multisample SP16_819 11 rs11037444
dbSNP Clinvar 		5462085 205.55 G A PASS 0/1 87 SYNONYMOUS_CODING LOW None 0.22564 0.22560 0.18244 None None None None None None HBG2|0.024133976|72.16%,HBE1|0.598378504|11.81%,OR51I1|0.041373753|65.35%

CARNS1
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 sp16_multisample SP16_819 11 rs1790747
dbSNP Clinvar 		67191449 470.96 T C PASS 0/1 256 SYNONYMOUS_CODING LOW None 0.35982 0.35980 0.27680 None None None None None None CARNS1|0.071843246|57.02%

OR51I1
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 sp16_multisample SP16_819 11 rs60832895
dbSNP Clinvar 		5462105 198.32 T C PASS 0/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.11582 0.11580 0.00308 0.27 0.00 None None None None None None HBG2|0.024133976|72.16%,HBE1|0.598378504|11.81%,OR51I1|0.041373753|65.35%
View sp16_multisample SP16_819 11 rs11037445
dbSNP Clinvar 		5462255 314.26 C G PASS 0/1 114 NON_SYNONYMOUS_CODING MODERATE None 0.25459 0.25460 0.20899 1.00 0.00 None None None None None None HBG2|0.024133976|72.16%,HBE1|0.598378504|11.81%,OR51I1|0.041373753|65.35%

OR52L1
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 sp16_multisample SP16_819 11 rs4436524
dbSNP Clinvar 		6007680 1076.98 A G PASS 0/1 171 NON_SYNONYMOUS_CODING MODERATE None 0.00359 0.75060 0.26081 0.31 0.00 None None None None None None OR52L1|0.0112571|79.84%

IGHMBP2
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 sp16_multisample SP16_819 11 rs546382
dbSNP Clinvar 		68704264 412.75 C T PASS 0/1 197 SYNONYMOUS_CODING LOW None 0.24621 0.24620 0.24761 None None None None None None IGHMBP2|0.010106738|80.78%

OR51I1
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 sp16_multisample SP16_819 11 rs16930982
dbSNP Clinvar 		5462374 317.57 C T PASS 0/1 113 NON_SYNONYMOUS_CODING MODERATE None 0.12879 0.12880 0.01924 0.02 0.02 None None None None None None HBG2|0.024133976|72.16%,HBE1|0.598378504|11.81%,OR51I1|0.041373753|65.35%
View sp16_multisample SP16_819 11 rs16930998
dbSNP Clinvar 		5462702 153.11 G A PASS 0/1 100 STOP_GAINED HIGH None 0.12840 0.12840 0.01916 None None None None None None HBG2|0.024133976|72.16%,HBE1|0.598378504|11.81%,OR51I1|0.041373753|65.35%

OR51I2
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 sp16_multisample SP16_819 11 rs2030094
dbSNP Clinvar 		5474838 272.7 G T PASS 0/1 145 SYNONYMOUS_CODING LOW None 0.40216 0.40220 0.49269 None None None None None None HBG2|0.024133976|72.16%,HBE1|0.598378504|11.81%,OR51I2|0.044428581|64.36%
View sp16_multisample SP16_819 11 rs12577167
dbSNP Clinvar 		5475118 438.04 A G PASS 0/1 203 NON_SYNONYMOUS_CODING MODERATE None 0.19269 0.19270 0.10757 0.23 0.01 None None None None None None HBG2|0.024133976|72.16%,HBE1|0.598378504|11.81%,OR51I2|0.044428581|64.36%
View sp16_multisample SP16_819 11 rs35301588
dbSNP Clinvar 		5475431 106.72 T TCA PASS 0/1 108 FRAME_SHIFT HIGH None 0.17033 0.17030 0.27996 None None None None None None HBG2|0.024133976|72.16%,HBE1|0.598378504|11.81%,OR51I2|0.044428581|64.36%
View sp16_multisample SP16_819 11 rs11037503
dbSNP Clinvar 		5475597 285.9 C T PASS 0/1 116 SYNONYMOUS_CODING LOW None 0.17193 0.17190 0.28347 None None None None None None HBG2|0.024133976|72.16%,HBE1|0.598378504|11.81%,OR51I2|0.044428581|64.36%

OR52D1
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 sp16_multisample SP16_819 11 rs417425
dbSNP Clinvar 		5510284 2092.46 A G PASS 1/1 215 SYNONYMOUS_CODING LOW None 0.95048 0.95050 0.03886 None None None None None None HBG2|0.024133976|72.16%,HBE1|0.598378504|11.81%,OR52D1|0.027773257|70.52%
View sp16_multisample SP16_819 11 rs404280
dbSNP Clinvar 		5510341 571.97 C T PASS 1/1 118 SYNONYMOUS_CODING LOW None 0.52536 0.52540 0.45760 None None None None None None HBG2|0.024133976|72.16%,HBE1|0.598378504|11.81%,OR52D1|0.027773257|70.52%
View sp16_multisample SP16_819 11 rs2467219
dbSNP Clinvar 		5510497 1118.16 T C PASS 1/1 125 SYNONYMOUS_CODING LOW None 0.94828 0.94830 0.04047 None None None None None None HBG2|0.024133976|72.16%,HBE1|0.598378504|11.81%,OR52D1|0.027773257|70.52%

KIRREL3
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 sp16_multisample SP16_819 11 rs948052
dbSNP Clinvar 		126294817 706.8 G A PASS 0/1 110 SYNONYMOUS_CODING LOW None 0.70367 0.70370 0.33517 None None None None None None ST3GAL4|0.13130516|45.71%,KIRREL3|0.826803288|5.18%

OR52D1
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 sp16_multisample SP16_819 11 rs7950082
dbSNP Clinvar 		5510598 345.02 A T PASS 0/1 124 NON_SYNONYMOUS_CODING MODERATE None 0.07548 0.07548 0.11165 0.01 1.00 None None None None None None HBG2|0.024133976|72.16%,HBE1|0.598378504|11.81%,OR52D1|0.027773257|70.52%
View sp16_multisample SP16_819 11 rs444878
dbSNP Clinvar 		5510626 2405.99 T C PASS 1/1 228 SYNONYMOUS_CODING LOW None 0.94848 0.94850 0.04055 None None None None None None HBG2|0.024133976|72.16%,HBE1|0.598378504|11.81%,OR52D1|0.027773257|70.52%
View sp16_multisample SP16_819 11 rs7101919
dbSNP Clinvar 		5510688 369.22 T C PASS 0/1 118 NON_SYNONYMOUS_CODING MODERATE None 0.15435 0.15440 0.24561 0.00 1.00 None None None None None None HBG2|0.024133976|72.16%,HBE1|0.598378504|11.81%,OR52D1|0.027773257|70.52%

OR52H1
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 sp16_multisample SP16_819 11 rs1995156
dbSNP Clinvar 		5566112 175.42 C T PASS 0/1 104 SYNONYMOUS_CODING LOW None 0.38419 0.38420 0.44521 None None None None None None HBG2|0.024133976|72.16%,OR52H1|0.063963699|58.89%
View sp16_multisample SP16_819 11 rs1566275
dbSNP Clinvar 		5566365 1784.45 T C PASS 1/1 195 NON_SYNONYMOUS_CODING MODERATE None 0.88938 0.88940 0.15474 1.00 0.00 None None None None None None HBG2|0.024133976|72.16%,OR52H1|0.063963699|58.89%
View sp16_multisample SP16_819 11 rs10769054
dbSNP Clinvar 		5566489 259.17 C T PASS 0/1 123 NON_SYNONYMOUS_CODING MODERATE None 0.38738 0.38740 0.44237 0.65 0.00 None None None None None None HBG2|0.024133976|72.16%,OR52H1|0.063963699|58.89%

OR52B6
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 sp16_multisample SP16_819 11 rs2341432
dbSNP Clinvar 		5602438 296.33 T A PASS 0/1 115 NON_SYNONYMOUS_CODING MODERATE None 0.00160 0.71510 0.45409 0.18 0.00 None None None None None None HBG2|0.024133976|72.16%,OR52B6|0.013540482|78.18%
View sp16_multisample SP16_819 11 rs2341434
dbSNP Clinvar 		5602615 303.74 A G PASS 0/1 124 NON_SYNONYMOUS_CODING MODERATE None 0.71665 0.71670 0.45475 1.00 0.00 None None None None None None HBG2|0.024133976|72.16%,OR52B6|0.013540482|78.18%
View sp16_multisample SP16_819 11 rs892336
dbSNP Clinvar 		5602679 188.66 T C PASS 0/1 98 SYNONYMOUS_CODING LOW None 0.71645 0.71650 0.45074 None None None None None None HBG2|0.024133976|72.16%,OR52B6|0.013540482|78.18%

TRIM6
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 sp16_multisample SP16_819 11 rs10769124
dbSNP Clinvar 		5632212 717.97 G A PASS 1/1 91 SYNONYMOUS_CODING LOW None 0.78914 0.78910 0.31287 None None None None None None HBG2|0.024133976|72.16%,TRIM6|0.018022909|75.28%,TRIM6-TRIM34|0.003746095|87.35%

TRIM22
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 sp16_multisample SP16_819 11 rs10838543
dbSNP Clinvar 		5717762 301.3 T C PASS 0/1 166 SYNONYMOUS_CODING LOW None 0.39437 0.39440 0.45712 None None None None None None TRIM5|0.00243037|89.82%,TRIM22|0.001079287|95.01%
View sp16_multisample SP16_819 11 rs7935564
dbSNP Clinvar 		5718517 174.65 G A PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.45707 0.45710 0.43441 0.00 0.04 None None None None None None TRIM5|0.00243037|89.82%,TRIM22|0.001079287|95.01%
View sp16_multisample SP16_819 11 rs2291842
dbSNP Clinvar 		5719667 187.97 T C PASS 0/1 119 SYNONYMOUS_CODING LOW None 0.29952 0.29950 0.23157 None None None None None None TRIM5|0.00243037|89.82%,TRIM22|0.001079287|95.01%
View sp16_multisample SP16_819 11 rs1063303
dbSNP Clinvar 		5719750 225.65 G C PASS 0/1 120 NON_SYNONYMOUS_CODING MODERATE None 0.42692 0.42690 0.48674 0.03 0.00 None None None None None None TRIM5|0.00243037|89.82%,TRIM22|0.001079287|95.01%

OR52N1
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 sp16_multisample SP16_819 11 rs7934670
dbSNP Clinvar 		5809308 740.17 A T PASS 1/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.92392 0.92390 0.06064 1.00 0.00 None None None None None None TRIM5|0.00243037|89.82%,OR52N1|0.040153803|65.73%
View sp16_multisample SP16_819 11 rs7948009
dbSNP Clinvar 		5809548 816.5 G A PASS 1/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.55172 0.55170 0.45190 0.03 0.05 None None None None None None TRIM5|0.00243037|89.82%,OR52N1|0.040153803|65.73%
View sp16_multisample SP16_819 11 rs12365487
dbSNP Clinvar 		5809811 355.8 G T PASS 0/1 152 NON_SYNONYMOUS_CODING MODERATE None 0.13039 0.13040 0.09166 0.00 0.86 None None None None None None TRIM5|0.00243037|89.82%,OR52N1|0.040153803|65.73%
View sp16_multisample SP16_819 11 rs11039038
dbSNP Clinvar 		5809990 389.92 G A PASS 0/1 209 SYNONYMOUS_CODING LOW None 0.09704 0.09704 0.06503 None None None None None None TRIM5|0.00243037|89.82%,OR52N1|0.040153803|65.73%

OR52N2
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 sp16_multisample SP16_819 11 rs4758435
dbSNP Clinvar 		5841856 434.57 C T PASS 0/1 75 SYNONYMOUS_CODING LOW None 0.73862 0.73860 0.21310 None None None None None None TRIM5|0.00243037|89.82%,OR52N2|0.028751083|70.04%
View sp16_multisample SP16_819 11 rs8181529
dbSNP Clinvar 		5842310 142.6 T G PASS 0/1 11 NON_SYNONYMOUS_CODING MODERATE None 0.50300 0.50300 0.42958 0.95 0.00 None None None None None None TRIM5|0.00243037|89.82%,OR52N2|0.028751083|70.04%
View sp16_multisample SP16_819 11 rs8181512
dbSNP Clinvar 		5842356 124.83 A G PASS 0/1 11 NON_SYNONYMOUS_CODING MODERATE None 0.45427 0.45430 0.49284 0.00 1.00 None None None None None None TRIM5|0.00243037|89.82%,OR52N2|0.028751083|70.04%

OR52E6
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 sp16_multisample SP16_819 11 rs4357719
dbSNP Clinvar 		5862653 364.45 T C PASS 0/1 157 NON_SYNONYMOUS_CODING MODERATE None 0.38419 0.38420 0.35586 0.30 0.00 None None None None None None TRIM5|0.00243037|89.82%,OR52E6|0.002958395|88.71%
View sp16_multisample SP16_819 11 rs4362172
dbSNP Clinvar 		5862780 426.52 T C PASS 0/1 220 SYNONYMOUS_CODING LOW None 0.38419 0.38420 0.35624 None None None None None None TRIM5|0.00243037|89.82%,OR52E6|0.002958395|88.71%

OR52E4
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 sp16_multisample SP16_819 11 rs11823842
dbSNP Clinvar 		5906291 396.08 T C PASS 0/1 99 NON_SYNONYMOUS_CODING MODERATE None 0.35743 0.35740 0.39395 0.72 0.03 None None None None None None TRIM5|0.00243037|89.82%,OR52E4|0.042961367|64.81%

OR56A3
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 sp16_multisample SP16_819 11 rs1840178
dbSNP Clinvar 		5968728 1328.88 T C PASS 0/1 231 NON_SYNONYMOUS_CODING MODERATE None 0.56090 0.56090 0.45652 0.13 0.00 None None None None None None OR56A3|0.028271946|70.31%