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Genes:
A1CF, ABCC2, ABLIM1, ACADSB, ACBD5, ADAM12, ADAM8, ADAMTS14, ADARB2, ADIRF, ADRA2A, ADRB1, AFAP1L2, AGAP4, AGAP6, AGAP7, AGAP8, AGAP9, AIFM2, AKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1CL1, AL133481.1, AL162407.1, AL359195.1, AL359878.1, AL450307.1, AL603965.1, ALOX5, ANK3, ANKRD16, ANKRD2, ANKRD22, ANKRD26, ANKRD30A, ANTXRL, ANXA11, ANXA8L2, ARHGAP12, ARHGAP19, ARHGAP21, ARHGAP22, ARMC3, ARMC4, ARMS2, ASAH2, ATE1, ATRNL1, AVPI1, BAG3, BEND7, BLNK, BLOC1S2, BMS1, BTBD16, C10ORF68, C10orf107, C10orf11, C10orf113, C10orf12, C10orf120, C10orf128, C10orf129, C10orf25, C10orf35, C10orf53, C10orf54, C10orf67, C10orf71, C10orf90, CALHM1, CALHM3, CALML3, CALML5, CAMK1D, CCAR1, CCDC147, CCDC3, CCDC6, CCDC7, CCSER2, CDH23, CDHR1, CELF2, CEP55, CHAT, CHST15, CHUK, CNNM1, COL13A1, COL17A1, COX15, CPEB3, CPXM2, CRTAC1, CTBP2, CUBN, CUL2, CWF19L1, CYP17A1, CYP2C18, CYP2C19, CYP2C8, CYP2E1, DCLRE1A, DCLRE1C, DDX50, DHTKD1, DIP2C, DKK1, DLG5, DMBT1, DNMBP, DNTT, DOCK1, DPYSL4, DUPD1, DUSP13, DUSP5, EBLN1, ECD, ECHDC3, ECHS1, EGR2, EIF3A, EIF4EBP2, ENO4, ERCC6, ERCC6-PGBD3, EXOC6, FAM107B, FAM149B1, FAM170B, FAM175B, FAM196A, FAM208B, FAM21A, FAM21B, FAM24B, FAM25A, FAM35A, FAM45A, FAS, FBXO18, FGFR2, FRA10AC1, FRG2B, FRMD4A, FRMPD2, GAD2, GBF1, GFRA1, GJD4, GPAM, GPR123, GPR158, GPR26, GPRIN2, GRID1, GSTO1, GSTO2, GTPBP4, HABP2, HECTD2, HELLS, HERC4, HK1, HKDC1, HPSE2, IDI1, IDI2, IFIT1, IFIT2, IL15RA, INPP5A, INPP5F, ITGA8, ITGB1, ITIH2, ITIH5, JAKMIP3, JMJD1C, KAT6B, KAZALD1, KCNK18, KCNMA1, KIAA1217, KIAA1462, KIF20B, KNDC1, LARP4B, LDB3, LGI1, LHPP, LIPF, LIPJ, LIPK, LIPM, LIPN, LOXL4, LRIT1, LRIT2, LRRC18, LRRC27, LYZL1, LYZL2, LZTS2, MALRD1, MARCH8, MASTL, MAT1A, MBL2, MCM10, MCMBP, MEIG1, MGEA5, MGMT, MKI67, MLLT10, MMP21, MMRN2, MMS19, MORN4, MPP7, MRC1L1, MRPL43, MTG1, MTPAP, MYO3A, MYOF, MYPN, NAMPTL, NCOA4, NEBL, NET1, NEURL1, NEUROG3, NFKB2, NHLRC2, NKX2-3, NKX6-2, NOC3L, NODAL, NOLC1, NPFFR1, NPY4R, NRAP, NRG3, NRP1, NUTM2A, NUTM2B, NUTM2D, OAT, OBFC1, OGDHL, OPN4, OPTN, PALD1, PANK1, PAOX, PARD3, PAX2, PBLD, PCDH15, PCGF5, PCGF6, PDCD11, PDCD4, PDE6C, PDLIM1, PDZD7, PFKP, PHYH, PHYHIPL, PI4K2A, PIK3AP1, PIP4K2A, PITRM1, PITX3, PKD2L1, PLAU, PLCE1, PLEKHA1, PLEKHS1, PLXDC2, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, POLR3A, PPRC1, PRAP1, PRDX3, PRF1, PRKCQ, PRLHR, PRPF18, PRR26, PSD, PSTK, PTCHD3, PTER, PTF1A, PTPLA, PTPRE, PYROXD2, R3HCC1L, RAB11FIP2, RASSF4, RBM20, RBP3, RET, RGR, RNLS, RP11-248J23.6, RP11-295P9.3, RP11-451M19.3, RPS24, RRP12, RSU1, RTKN2, RUFY2, SEC23IP, SEC31B, SEPHS1, SFMBT2, SFR1, SFTPA1, SFTPA2, SFTPD, SFXN2, SFXN4, SGPL1, SH3PXD2A, SIRT1, SKIDA1, SLC16A9, SLC18A3, SLC29A3, SLC39A12, SLIT1, SLK, SMC3, SORBS1, SORCS1, SORCS3, SPRN, ST8SIA6, STAM, STK32C, STOX1, SUFU, SUPV3L1, SVIL, SYT15, TACC2, TACR2, TAF3, TAF5, TBATA, TBC1D12, TCERG1L, TCF7L2, TECTB, TET1, TEX36, TFAM, TIMM23, TLL2, TLX1NB, TM9SF3, TMEM180, TMEM254, TNKS2, TRDMT1, TTC18, TTC40, TUBAL3, TUBB8, TUBGCP2, TYSND1, UCMA, UCN3, UNC5B, UPF2, USP6NL, VENTX, VSTM4, VWA2, WAPAL, WBP1L, WDFY4, WDR37, WNT8B, ZDHHC6, ZFYVE27, ZMYND11, ZNF239, ZNF33B, ZNF365, ZNF438, ZNF485, ZNF487, ZNF511, ZRANB1, ZWINT,

Genes at Omim

ABCC2, ACADSB, ADRB1, AKR1C2, AKR1C4, ALOX5, ANK3, ANKRD26, ANXA11, ARMC4, BAG3, BLNK, BMS1, CDH23, CDHR1, CEP55, CHAT, CHUK, COL13A1, COL17A1, COX15, CUBN, CWF19L1, CYP17A1, CYP2C8, DCLRE1C, DHTKD1, ECHS1, EGR2, ERCC6, FAS, FGFR2, FRMD4A, HABP2, HELLS, HK1, HPSE2, ITGA8, KAT6B, KCNK18, KCNMA1, LDB3, LGI1, LIPN, MAT1A, MBL2, MMP21, MTPAP, MYO3A, MYPN, NEUROG3, NFKB2, NHLRC2, NKX6-2, NODAL, OAT, OPTN, PAX2, PCDH15, PDE6C, PDZD7, PHYH, PITX3, PLAU, PLCE1, PNLIP, POLR3A, PRF1, PTF1A, RBM20, RBP3, RET, RGR, RPS24, SFTPA2, SFXN4, SGPL1, SLC18A3, SLC29A3, SMC3, STOX1, SUFU, TCF7L2, TFAM, TUBB8, ZFYVE27, ZMYND11, ZNF365,
ABCC2 Dubin-Johnson syndrome, 237500 (3)
ACADSB 2-methylbutyrylglycinuria, 610006 (3)
ADRB1 [Resting heart rate], 607276 (3)
{Congestive heart failure and beta-blocker response, modifier of} (3)
AKR1C2 46XY sex reversal 8, 614279 (3)
AKR1C4 {46XY sex reversal 8, modifier of}, 614279 (3)
ALOX5 {Asthma, diminished response to antileukotriene treatment in}, 600807 (3)
{Atherosclerosis, susceptibility to} (3)
ANK3 ?Mental retardation, autosomal recessive, 37, 615493 (3)
ANKRD26 Thrombocytopenia 2, 188000 (3)
ANXA11 Amytrophic lateral sclerosis 23, 617839 (3)
ARMC4 Ciliary dyskinesia, primary, 23, 615451 (3)
BAG3 Cardiomyopathy, dilated, 1HH, 613881 (3)
Myopathy, myofibrillar, 6, 612954 (3)
BLNK ?Agammaglobulinemia 4, 613502 (3)
BMS1 ?Aplasia cutis congenita, nonsyndromic, 107600 (3)
CDH23 Deafness, autosomal recessive 12, 601386 (3)
{Pituitary adenoma 5, multiple types}, 617540 (3)
Usher syndrome, type 1D, 601067 (3)
Usher syndrome, type 1D/F digenic, 601067 (3)
CDHR1 Cone-rod dystrophy 15, 613660 (3)
Retinitis pigmentosa 65, 613660 (3)
CEP55 Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500 (3)
CHAT Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)
CHUK Cocoon syndrome, 613630 (3)
COL13A1 Myasthenic syndrome, congenital, 19, 616720 (3)
COL17A1 Epidermolysis bullosa, junctional, localisata variant, 226650 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Epithelial recurrent erosion dystrophy, 122400 (3)
COX15 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3)
Leigh syndrome due to cytochrome c oxidase deficiency, 256000 (3)
CUBN Megaloblastic anemia-1, Finnish type, 261100 (3)
CWF19L1 Spinocerebellar ataxia, autosomal recessive 17, 616127 (3)
CYP17A1 17,20-lyase deficiency, isolated, 202110 (3)
17-alpha-hydroxylase/17,20-lyase deficiency, 202110 (3)
CYP2C8 {Drug metabolism, altered, CYP2C8-related}, 618018 (3)
DCLRE1C Omenn syndrome, 603554 (3)
Severe combined immunodeficiency, Athabascan type, 602450 (3)
DHTKD1 2-aminoadipic 2-oxoadipic aciduria, 204750 (3)
?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 (3)
ECHS1 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3)
EGR2 Charcot-Marie-Tooth disease, type 1D, 607678 (3)
Hypomyelinating neuropathy, congenital, 1, 605253 (3)
Dejerine-Sottas disease, 145900 (3)
ERCC6 Cerebrooculofacioskeletal syndrome 1, 214150 (3)
{Lung cancer, susceptibility to}, 211980 (3)
{Macular degeneration, age-related, susceptibility to, 5}, 613761 (3)
Cockayne syndrome, type B, 133540 (3)
De Sanctis-Cacchione syndrome, 278800 (3)
Premature ovarian failure 11, 616946 (3)
UV-sensitive syndrome 1, 600630 (3)
FAS Autoimmune lymphoproliferative syndrome, type IA, 601859 (3)
Squamous cell carcinoma, burn scar-related, somatic (3)
{Autoimmune lymphoproliferative syndrome}, 601859 (3)
FGFR2 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 (3)
Apert syndrome, 101200 (3)
Gastric cancer, somatic, 613659 (3)
Beare-Stevenson cutis gyrata syndrome, 123790 (3)
Bent bone dysplasia syndrome, 614592 (3)
Craniofacial-skeletal-dermatologic dysplasia, 101600 (3)
Craniosynostosis, nonspecific (3)
Crouzon syndrome, 123500 (3)
Jackson-Weiss syndrome, 123150 (3)
LADD syndrome, 149730 (3)
Pfeiffer syndrome, 101600 (3)
Saethre-Chotzen syndrome, 101400 (3)
Scaphocephaly and Axenfeld-Rieger anomaly (3)
Scaphocephaly, maxillary retrusion, and mental retardation, 609579 (3)
FRMD4A ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 (3)
HABP2 {Venous thromboembolism, susceptibility to}, 188050 (3)
{?Thyroid cancer, nonmedullary, 5}, 616535 (3)
HELLS Immunodeficiency-centromeric instability-facial anomalies syndrome 4, 616911 (3)
HK1 Hemolytic anemia due to hexokinase deficiency, 235700 (3)
Neuropathy, hereditary motor and sensory, Russe type, 605285 (3)
Retinitis pigmentosa 79, 617460 (3)
HPSE2 Urofacial syndrome 1, 236730 (3)
ITGA8 Renal hypodysplasia/aplasia 1, 191830 (3)
KAT6B Genitopatellar syndrome, 606170 (3)
SBBYSS syndrome, 603736 (3)
KCNK18 {Migraine, with or without aura, susceptibility to, 13}, 613656 (3)
KCNMA1 Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446 (3)
?Cerebellar atrophy, developmental delay, and seizures, 617643 (3)
LDB3 Cardiomyopathy, dilated, 1C, with or without LVNC, 601493 (3)
Cardiomyopathy, hypertrophic, 24, 601493 (3)
Left ventricular noncompaction 3, 601493 (3)
Myopathy, myofibrillar, 4, 609452 (3)
LGI1 Epilepsy, familial temporal lobe, 1, 600512 (3)
LIPN Ichthyosis, congenital, autosomal recessive 8, 613943 (3)
MAT1A Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3)
Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3)
MBL2 {Chronic infections, due to MBL deficiency}, 614372 (3)
MMP21 Heterotaxy, visceral, 7, autosomal, 616749 (3)
MTPAP ?Spastic ataxia 4, autosomal recessive, 613672 (3)
MYO3A Deafness, autosomal recessive 30, 607101 (3)
MYPN Cardiomyopathy, dilated, 1KK, 615248 (3)
Cardiomyopathy, familial restrictive, 4, 615248 (3)
Cardiomyopathy, hypertrophic, 22, 615248 (3)
Nemaline myopathy 11, autosomal recessive, 617336 (3)
NEUROG3 Diarrhea 4, malabsorptive, congenital, 610370 (3)
NFKB2 Immunodeficiency, common variable, 10, 615577 (3)
NHLRC2 FINCA syndrome, 618278 (3)
NKX6-2 Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 (3)
NODAL Heterotaxy, visceral, 5, 270100 (3)
OAT Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 (3)
OPTN {Glaucoma, normal tension, susceptibility to}, 606657 (3)
Amyotrophic lateral sclerosis 12, 613435 (3)
Glaucoma 1, open angle, E, 137760 (3)
PAX2 Glomerulosclerosis, focal segmental, 7, 616002 (3)
Papillorenal syndrome, 120330 (3)
PCDH15 Deafness, autosomal recessive 23, 609533 (3)
Usher syndrome, type 1D/F digenic, 601067 (3)
Usher syndrome, type 1F, 602083 (3)
PDE6C Cone dystrophy 4, 613093 (3)
PDZD7 Deafness, autosomal recessive 57, 618003 (3)
{Retinal disease in Usher syndrome type IIA, modifier of}, 276901 (3)
Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472 (3)
PHYH Refsum disease, 266500 (3)
PITX3 Anterior segment dysgenesis 1, multiple subtypes, 107250 (3)
Cataract 11, multiple types, 610623 (3)
Cataract 11, syndromic, autosomal recessive, 610623 (3)
PLAU Quebec platelet disorder, 601709 (3)
{Alzheimer disease, late-onset, susceptibility to}, 104300 (3)
PLCE1 Nephrotic syndrome, type 3, 610725 (3)
PNLIP ?Pancreatic lipase deficiency, 614338 (3)
POLR3A Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 (3)
Wiedemann-Rautenstrauch syndrome, 264090 (3)
PRF1 Aplastic anemia, 609135 (3)
Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)
Lymphoma, non-Hodgkin, 605027 (3)
PTF1A Pancreatic agenesis 2, 615935 (3)
Pancreatic and cerebellar agenesis, 609069 (3)
RBM20 Cardiomyopathy, dilated, 1DD, 613172 (3)
RBP3 ?Retinitis pigmentosa 66, 615233 (3)
RET {Hirschsprung disease, protection against}, 142623 (3)
{Hirschsprung disease, susceptibility to, 1}, 142623 (3)
Central hypoventilation syndrome, congenital, 209880 (3)
Medullary thyroid carcinoma, 155240 (3)
Multiple endocrine neoplasia IIA, 171400 (3)
Multiple endocrine neoplasia IIB, 162300 (3)
Pheochromocytoma, 171300 (3)
RGR Retinitis pigmentosa 44, 613769 (3)
RPS24 Diamond-blackfan anemia 3, 610629 (3)
SFTPA2 Pulmonary fibrosis, idiopathic, 178500 (3)
SFXN4 Combined oxidative phosphorylation deficiency 18, 615578 (3)
SGPL1 Nephrotic syndrome, type 14, 617575 (3)
SLC18A3 Myasthenic syndrome, congenital, 21, presynaptic, 617239 (3)
SLC29A3 Histiocytosis-lymphadenopathy plus syndrome, 602782 (3)
SMC3 Cornelia de Lange syndrome 3, 610759 (3)
STOX1 Preeclampsia/eclampsia 4, 609404 (3)
SUFU Basal cell nevus syndrome, 109400 (3)
{Meningioma, familial, susceptibility to}, 607174 (3)
Joubert syndrome 32, 617757 (3)
Medulloblastoma, desmoplastic, 155255 (3)
TCF7L2 {Diabetes mellitus, type 2, susceptibility to}, 125853 (3)
TFAM ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156 (3)
TUBB8 Oocyte maturation defect 2, 616780 (3)
ZFYVE27 Spastic paraplegia 33, autosomal dominant, 610244 (3)
ZMYND11 Mental retardation, autosomal dominant 30, 616083 (3)
ZNF365 {Nephrolithiasis, uric acid, susceptibility to}, 605990 (3)

Genes at Clinical Genomics Database

ABCC2, ACADSB, ADRB1, AKR1C2, ALOX5, ANKRD26, ARMC4, BAG3, BLNK, BMS1, CDH23, CDHR1, CHAT, CHUK, COL13A1, COL17A1, COX15, CUBN, CWF19L1, CYP17A1, CYP2C19, CYP2C8, DCLRE1C, DHTKD1, ECHS1, EGR2, ERCC6, FAS, FGFR2, FRMD4A, HABP2, HELLS, HK1, HPSE2, ITGA8, KAT6B, KCNK18, KCNMA1, LDB3, LGI1, LIPN, MASTL, MAT1A, MBL2, MMP21, MTPAP, MYO3A, MYPN, NEUROG3, NFKB2, NODAL, OAT, OPTN, PAX2, PCDH15, PDE6C, PDZD7, PHYH, PITX3, PLAU, PLCE1, POLR3A, PRF1, PTF1A, RBM20, RBP3, RET, RGR, RPS24, SFTPA2, SFXN4, SLC29A3, SMC3, SUFU, TUBB8, ZFYVE27, ZMYND11,
ABCC2 Dubin-Johnson syndrome
ACADSB 2-methylbutyryl-CoA dehydrogenase deficiency
ADRB1 Beta-blocker response, association with
AKR1C2 46,XY sex reversal 8
ALOX5 Asthma, diminished response to antileukotriene treatment in
ANKRD26 Thrombocytopenia 2
ARMC4 Ciliary dyskinesia, primary, 23
BAG3 Cardiomyopathy, dilated, 1HH
Myopathy, myofibrillar 6
BLNK Agammaglobulinemia 4
BMS1 Aplasia cutis congenita, nonsyndromic
CDH23 Deafness, autosomal recessive 12
Usher syndrome, type 1D
Usher syndrome, type 1D /F digenic
CDHR1 Cone-rod dystrophy 15
Retinitis pigmentosa 65
CHAT Myasthenic syndrome, congenital 6, presynaptic
CHUK Cocoon syndrome
COL13A1 Myasthenic syndrome, congenital, 19
COL17A1 Epithelial recurrent erosion dystrophy (ERED)
Epidermolysis bullosa, junctional, non-Herlitz type
COX15 Leigh syndrome
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
CUBN Megaloblastic anemia-1, Finnish type
CWF19L1 Spinocerebellar ataxia, autosomal recessive 17
CYP17A1 Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency
CYP2C19 Drug metabolism, CYP2C19-related
CYP2C8 Rhabdomyolysis, cerivastatin-induced
DCLRE1C Omenn syndrome
Severe combined immunodeficiency with sensitivity to ionizing radiation
DHTKD1 Charcot-Marie-Tooth disease, type 2Q
2-aminoadipic and 2-oxoadipic aciduria
ECHS1 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
EGR2 Charcot-Marie-Tooth disease, demyelinating, type 1D
Neuropathy, congenital hypomyelinating, 1
Dejerine-Sottas disease
ERCC6 Xeroderma Pigmentosum-Cockayne Syndrome
De Sanctis-Cacchione syndrome
Premature ovarian failure 11 (AD)
FAS Autoimmune lymphoproliferative syndrome, type IA
FGFR2 Lacrimoauriculodentodigital syndrome
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Sraniofacial-skeletal-dermatological dysplasia
Crouzon syndrome
Jackson-Weiss syndrome
Pfeiffer syndrome
Apert syndrome
Beare-Stevenson cutis gyrata syndrome
FRMD4A Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia (Fine-Flusser syndrome)
HABP2 Thyroid cancer, nonmedullary 5
HELLS Immunodeficiency-centromeric instability-facial anomalies syndrome 4
HK1 Hemolytic anemia, nonspherocytic, due to hexokinase deficiency
HPSE2 Ochoa syndrome
Urofacial syndrome 1
ITGA8 Renal agenesis, bilateral
KAT6B Ohdo syndrome, SBBYS variant
Genitopatellar syndrome
KCNK18 Migraine, with or without aura, susceptibility to, 13
KCNMA1 Generalized epilepsy and paroxysmal dyskinesia
LDB3 Cardiomyopathy, dilated 1C, with or without ventricular noncompaction
Myopathy, myofibrillar 4
LGI1 Epilepsy, familial temporal lobe, 1
LIPN Ichthyosis, congenital, autosomal recessive 8
MASTL Thrombocytopenia 2
MAT1A Methionine adenosyltransferase deficiency
MBL2 Mannose-binding protein deficiency
MMP21 Heterotaxy, visceral, 7
MTPAP Spastic ataxia 4, autosomal recessive
MYO3A Deafness, autosomal recessive 30
MYPN Cardiomyopathy, dilated, 1KK
Cardiomyopathy, familial hypertrophic, 22
Cardiomyopathy, familial restrictive, 4
NEUROG3 Diarrhea 4, malabsorptive, congenital
NFKB2 Immunodeficiency, common variable, 10
NODAL Heterotaxy, visceral, 5
OAT Gyrate atrophy of choroid and retina
OPTN Glaucoma, normal tension, susceptibility to
Glaucoma 1, open angle, E
PAX2 Isolated renal hypoplasia
Papillorenal syndrome
PCDH15 Deafness, autosomal recessive 23
Usher syndrome, type 1F
Usher syndrome, type 1D/F, digenic
PDE6C Cone dystrophy 4
PDZD7 Usher syndrome, type IIC
PHYH Refsum disease
PITX3 Cataract, posterior polar, 4
Cataract, congenital
Cataract, posterior polar 4, syndromic
Anterior segment mesenchymal dysgenesis
PLAU Quebec platelet disorder
PLCE1 Nephrotic syndrome, type 3
POLR3A Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
PRF1 Hemophagocytic lymphohistiocytosis, familial, 2
Lymphoma, non-Hodgkin
Aplastic anemia, adult-onset
PTF1A Pancreatic and cerebellar agenesis
Pancreatic agenesis 2
RBM20 Cardiomyopathy, dilated, 1DD
RBP3 Retinitis pigmentosa 66
RET Central hypoventilation syndrome, congenital
Multiple endocrine neoplasia, type IIA
Multiple endocrine neoplasia IIB
Medullary thyroid carcinoma, familial
Pheochromocytoma
Hirschsprung disease, susceptibility to 1
RGR Retinitis pigmentosa 44
RPS24 Diamond-Blackfan anemia 3
SFTPA2 Pulmonary fibrosis, idiopathic
SFXN4 Combined oxidative phosphorylation deficiency 18
SLC29A3 Histiocytosis-lymphadenopathy plus syndrome
SMC3 Cornelia de Lange syndrome 3
SUFU Medulloblastoma
Basal cell nevus syndrome
TUBB8 Oocyte maturation defect 2
ZFYVE27 Spastic paraplegia 33, autosomal dominant
ZMYND11 Mental retardation, autosomal domianant, 30

Genes at HGMD

Summary

Number of Variants: 3862
Number of Genes: 408

Export to: CSV

A1CF

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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs41274048
dbSNP Clinvar
52573698 1211.77 G A PASS 0/1 89 SYNONYMOUS_CODING LOW None 0.10603 0.10600 0.09280 None None None None None None A1CF|0.301078858|27.59%

ABCC2

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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs927344
dbSNP Clinvar
101544447 2192.77 A T PASS 1/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.99461 0.99460 0.00654 1.00 0.00 1.61 None None None None None None ABCC2|0.186653982|38.2%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs3740066
dbSNP Clinvar
101604207 1268.77 C T PASS 0/1 92 SYNONYMOUS_CODING LOW None 0.28814 0.28810 0.33354 None None None None None None ABCC2|0.186653982|38.2%

ABLIM1

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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs2247528
dbSNP Clinvar
116307504 1177.77 A G PASS 0/1 82 SYNONYMOUS_CODING LOW None 0.78315 0.78310 0.20821 None None None None None None ABLIM1|0.44358146|18.51%

ACADSB

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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs1140591
dbSNP Clinvar
124800853 1251.77 C T PASS 0/1 86 SYNONYMOUS_CODING LOW None 0.22784 0.22780 0.22813 None None None None None None ACADSB|0.041043879|65.42%

ACBD5

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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs10764690
dbSNP Clinvar
27508758 198.77 T C PASS 0/1 22 SYNONYMOUS_CODING LOW None 0.31789 0.31790 0.39382 None None None None None None ACBD5|0.116795914|47.98%

ADAM12

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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs3740199
dbSNP Clinvar
128019025 1297.77 C G PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.00140 0.00140 0.42803 0.33 0.00 -0.67 None None None None None None ADAM12|0.075293986|56.23%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs1278279
dbSNP Clinvar
127753478 992.77 G A PASS 0/1 63 SYNONYMOUS_CODING LOW None 0.30272 0.30270 0.25427 None None None None None None ADAM12|0.075293986|56.23%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs2292692
dbSNP Clinvar
127737930 1586.77 G A PASS 0/1 106 SYNONYMOUS_CODING LOW None 0.12340 0.12340 0.13248 None None None None None None ADAM12|0.075293986|56.23%

ADAM8

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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs2275720
dbSNP Clinvar
135082346 3658.77 A G PASS 1/1 102 NON_SYNONYMOUS_CODING MODERATE None 0.82428 0.82430 0.19900 0.68 0.00 -2.20 None None None None None None ADAM8|0.004556093|86.35%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs1131720
dbSNP Clinvar
135085321 3425.77 C T PASS 1/1 95 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.84665 0.84660 0.15147 None None None None None None ADAM8|0.004556093|86.35%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs1131719
dbSNP Clinvar
135085426 5257.77 A G PASS 1/1 146 SYNONYMOUS_CODING LOW None 0.91893 0.91890 0.08042 None None None None None None ADAM8|0.004556093|86.35%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs1131718
dbSNP Clinvar
135085754 3768.77 G A PASS 1/1 102 SYNONYMOUS_CODING LOW None 0.88359 0.88360 0.12098 None None None None None None ADAM8|0.004556093|86.35%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs2275725
dbSNP Clinvar
135089035 2222.77 A G PASS 1/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.90316 0.90320 0.09083 1.00 0.00 -1.80 None None None None None None ADAM8|0.004556093|86.35%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs3008326
dbSNP Clinvar
135087521 1247.77 G A PASS 0/1 92 SYNONYMOUS_CODING LOW None 0.72424 0.72420 0.28998 0.06 None None None None None None ADAM8|0.004556093|86.35%

ADAMTS14

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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs12774070
dbSNP Clinvar
72513635 1668.77 C A PASS 0/1 103 NON_SYNONYMOUS_CODING MODERATE None 0.16014 0.16010 0.19512 0.01 0.91 4.72 None None None None None None ADAMTS14|0.04385867|64.56%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs61749230
dbSNP Clinvar
72468473 2834.77 C T PASS 0/1 220 NON_SYNONYMOUS_CODING MODERATE None 0.01518 0.01518 0.01538 0.00 0.99 7.30 None None None None None None ADAMTS14|0.04385867|64.56%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs10823607
dbSNP Clinvar
72500763 3900.77 T C PASS 1/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.79992 0.79990 0.19168 0.32 0.00 0.80 None None None None None None ADAMTS14|0.04385867|64.56%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs10999502
dbSNP Clinvar
72503344 3668.77 G A PASS 0/1 213 SYNONYMOUS_CODING LOW None 0.31150 0.31150 0.19868 None None None None None None ADAMTS14|0.04385867|64.56%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs10823615
dbSNP Clinvar
72520330 2361.77 A G PASS 0/1 185 SYNONYMOUS_CODING LOW None 0.00140 0.38600 0.36422 None None None None None None ADAMTS14|0.04385867|64.56%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs61573157
dbSNP Clinvar
72520259 2291.77 C T PASS 0/1 151 NON_SYNONYMOUS_CODING MODERATE None 0.06629 0.06629 0.07796 0.75 0.00 -0.76 None None None None None None ADAMTS14|0.04385867|64.56%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs2587475
dbSNP Clinvar
72513682 1467.77 C T PASS 0/1 90 SYNONYMOUS_CODING LOW None 0.52516 0.52520 0.45384 None None None None None None ADAMTS14|0.04385867|64.56%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs10999500
dbSNP Clinvar
72500863 3549.77 C G PASS 1/1 102 SYNONYMOUS_CODING LOW None 0.66713 0.66710 0.38190 None None None None None None ADAMTS14|0.04385867|64.56%

ADARB2

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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs2271275
dbSNP Clinvar
1230968 405.77 C T PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.54313 0.54310 0.43947 0.25 0.08 2.75 None None None None None None ADARB2|0.14627916|43.56%

ADIRF

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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs4869
dbSNP Clinvar
88730312 3199.77 T C PASS 1/1 91 SYNONYMOUS_CODING LOW None 0.52716 0.52720 0.48224 None None None None None None ADIRF|0.020192818|74.07%

ADRA2A

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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs199567917
dbSNP Clinvar
112839026 1857.77 A G PASS 0/1 125 SYNONYMOUS_CODING LOW None 0.02376 0.02376 None None None None None None ADRA2A|0.119282208|47.55%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs375697365
dbSNP Clinvar
112838506 1140.77 C G PASS 0/1 92 NON_SYNONYMOUS_CODING MODERATE None 0.02376 0.02376 0.14 0.79 0.87 None None None None None None ADRA2A|0.119282208|47.55%

ADRB1

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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs1801253
dbSNP Clinvar
115805056 2418.77 G C PASS 1/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.70168 0.70170 0.30033 1.00 0.00 -0.57 None None None None None None ADRB1|0.666700808|9.49%

AFAP1L2

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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs66638979
dbSNP Clinvar
116085744 1225.77 G C PASS 0/1 95 NON_SYNONYMOUS_CODING MODERATE None 0.05891 0.05891 0.45 0.00 None None None None None None AFAP1L2|0.092781823|52.66%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs2286396
dbSNP Clinvar
116060387 7544.77 T C PASS 1/1 212 SYNONYMOUS_CODING LOW None 0.64157 0.64160 0.31855 None None None None None None AFAP1L2|0.092781823|52.66%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs3813722
dbSNP Clinvar
116073696 1600.77 C T PASS 0/1 97 SYNONYMOUS_CODING LOW None 0.58486 0.58490 0.42019 None None None None None None AFAP1L2|0.092781823|52.66%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 116085782 1280.73 GCCCA GC... PASS 1/2 101 CODON_INSERTION MODERATE None None None None None None None AFAP1L2|0.092781823|52.66%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs621375
dbSNP Clinvar
116073801 1470.77 T C PASS 0/1 117 SYNONYMOUS_CODING LOW None 0.35443 0.35440 0.34307 None None None None None None AFAP1L2|0.092781823|52.66%

AGAP4

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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs202104169
dbSNP Clinvar
46321904 183.77 C T PASS 0/1 13 NON_SYNONYMOUS_CODING MODERATE None 0.04 1.00 2.99 None None None None None None AGAP4|0.00701941|83.47%

AGAP6

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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs61848275
dbSNP Clinvar
51769799 206.58 C A PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.06510 0.06510 None None None None None None AGAP6|0.003119632|88.45%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs201341309
dbSNP Clinvar
51769562 896.32 G A PASS 0/1 78 SYNONYMOUS_CODING LOW None 0.06609 0.06609 None None None None None None AGAP6|0.003119632|88.45%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs201531094
dbSNP Clinvar
51769579 1352.52 G A PASS 0/1 88 NON_SYNONYMOUS_CODING MODERATE None 0.01837 0.01837 0.17 0.04 2.09 None None None None None None AGAP6|0.003119632|88.45%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs201151847
dbSNP Clinvar
51769670 549.99 C T PASS 0/1 48 SYNONYMOUS_CODING LOW None 0.06609 0.06609 None None None None None None AGAP6|0.003119632|88.45%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 51748681 218.73 ACCG AC... PASS 0/2 16 FRAME_SHIFT HIGH None None None None None None None AGAP6|0.003119632|88.45%

AGAP7

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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs201025969
dbSNP Clinvar
51465138 495.62 C T PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.16673 0.16670 0.03 0.64 None None None None None None AGAP7P|0.001668593|92.02%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs61850064
dbSNP Clinvar
51465552 2590.48 A T PASS 1/1 105 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None AGAP7P|0.001668593|92.02%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs199898426
dbSNP Clinvar
51465650 1793.82 C T PASS 0/1 160 NON_SYNONYMOUS_CODING MODERATE None 0.38059 0.38060 0.02 0.85 None None None None None None AGAP7P|0.001668593|92.02%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs61850063
dbSNP Clinvar
51464656 94.8 G C PASS 0/1 13 NON_SYNONYMOUS_CODING MODERATE None 0.40355 0.40360 0.08 0.79 None None None None None None AGAP7P|0.001668593|92.02%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs4043619
dbSNP Clinvar
51465783 966.59 T C PASS 0/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.00 None None None None None None AGAP7P|0.001668593|92.02%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs200931942
dbSNP Clinvar
51466576 39.87 C T PASS 0/1 6 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None AGAP7P|0.001668593|92.02%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs199907084
dbSNP Clinvar
51486055 77.65 T C PASS 1/1 3 SYNONYMOUS_CODING LOW None None None None None None None AGAP7P|0.001668593|92.02%

AGAP8

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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs80103077
dbSNP Clinvar
51225623 69.33 A G PASS 1/1 4 SYNONYMOUS_CODING LOW None 0.82029 0.82030 None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs782494670
dbSNP Clinvar
51226118 556.11 G A PASS 1/1 22 SYNONYMOUS_CODING LOW None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs782795368
dbSNP Clinvar
51225872 485.77 G T PASS 0/1 21 SYNONYMOUS_CODING LOW None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs201735922
dbSNP Clinvar
51225274 37.99 A G PASS 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs200027998
dbSNP Clinvar
51225724 487.44 G C PASS 0/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.37460 0.37460 0.03 0.96 None None None None None None None

AGAP9

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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs200283865
dbSNP Clinvar
48235892 250.07 C T PASS 0/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.00 None None None None None None AGAP9|0.003287592|88.1%

AIFM2

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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs2271695
dbSNP Clinvar
71874734 2354.77 G A PASS 0/1 172 SYNONYMOUS_CODING LOW None 0.14157 0.14160 0.10426 None None None None None None AIFM2|0.142363482|44.1%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs2271696
dbSNP Clinvar
71874683 2156.77 G A PASS 0/1 149 SYNONYMOUS_CODING LOW None 0.14177 0.14180 0.10357 None None None None None None AIFM2|0.142363482|44.1%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs2271694
dbSNP Clinvar
71874784 3166.77 C T PASS 0/1 198 NON_SYNONYMOUS_CODING MODERATE None 0.06589 0.06589 0.00823 0.53 0.01 0.69 None None None None None None AIFM2|0.142363482|44.1%

AKR1C1

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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs1138600
dbSNP Clinvar
5010572 845.62 A G PASS 1/1 31 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.99720 0.99720 None None None None None None AKR1C1|0.0017482|91.68%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs41316041
dbSNP Clinvar
5014878 553.43 A G PASS 0/1 129 SYNONYMOUS_CODING LOW None None None None None None None AKR1C1|0.0017482|91.68%

AKR1C2

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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs13945
dbSNP Clinvar
5042784 485.77 G A PASS 0/1 62 SYNONYMOUS_CODING LOW None 0.08087 0.08087 0.09004 None None None None None None AKR1C2|0.002182475|90.47%

AKR1C3

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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs7741
dbSNP Clinvar
5138607 995.77 G A PASS 0/1 56 SYNONYMOUS_CODING LOW None 0.21625 0.21630 0.34805 None None None None None None AKR1C3|0.002438134|89.81%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs4881396
dbSNP Clinvar
5120157 217.8 G T PASS 1/1 7 None None None 0.87201 0.87200 0.71 0.04 -0.35 None None None None None None AKR1C3|0.002438134|89.81%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs12529
dbSNP Clinvar
5136651 762.77 C G PASS 0/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.57967 0.57970 0.43002 0.40 0.00 -0.11 None None None None None None AKR1C3|0.002438134|89.81%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs12387
dbSNP Clinvar
5139685 1004.77 G A PASS 1/1 30 SYNONYMOUS_CODING LOW None 0.84824 0.84820 0.15693 None None None None None None AKR1C3|0.002438134|89.81%

AKR1C4

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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs4880718
dbSNP Clinvar
5255025 5357.77 A G PASS 1/1 144 NON_SYNONYMOUS_CODING MODERATE None 0.99980 0.99980 1.00 0.00 -1.64 None None None None None None AKR1C4|0.002829069|88.97%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs17306779
dbSNP Clinvar
5242164 1025.77 A G PASS 0/1 63 SYNONYMOUS_CODING LOW None 0.16514 0.16510 0.18853 None None None None None None AKR1C4|0.002829069|88.97%

AKR1CL1

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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs7097295
dbSNP Clinvar
5204928 1195.77 C T PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.18151 0.18150 0.31201 0.06 0.10 None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs1781935
dbSNP Clinvar
5199934 2287.77 G C PASS 0/1 138 None None None 0.60204 0.60200 0.01 0.95 None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs2020172
dbSNP Clinvar
5200861 155.77 C A PASS 0/1 20 None None None 0.17252 0.17250 0.01 1.00 None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs2151896
dbSNP Clinvar
5244441 610.77 A G PASS 0/1 48 None None None 0.56110 0.56110 None None None None None None AKR1C4|0.002829069|88.97%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs11253021
dbSNP Clinvar
5203864 1059.77 C T PASS 0/1 52 SYNONYMOUS_CODING LOW None 0.18131 0.18130 0.31209 None None None None None None None

AL133481.1

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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs141857846
dbSNP Clinvar
81270316 456.39 C T PASS 0/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.01617 0.01617 0.68 None None None None None None None

AL162407.1

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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs7895609
dbSNP Clinvar
115675025 1559.77 G A PASS 1/1 42 SYNONYMOUS_CODING LOW None 0.74621 0.74620 None None None None None None NHLRC2|0.150423517|42.94%

AL359195.1

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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs1298908
dbSNP Clinvar
82013134 961.77 C T PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.58926 0.58930 0.24 0.00 None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs2573326
dbSNP Clinvar
82013146 973.77 T C PASS 0/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.59844 0.59840 1.00 0.00 None None None None None None None

AL359878.1

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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs4880745
dbSNP Clinvar
1018585 1233.77 T G PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.58706 0.58710 0.41 None None None None None None None

AL450307.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 133608291 759.03 TT GG PASS 0/1 53 NON_SYNONYMOUS_CODING MODERATE None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs4897740
dbSNP Clinvar
133607947 847.77 T G PASS 0/1 52 SYNONYMOUS_CODING LOW None 0.58447 0.58450 None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs4897783
dbSNP Clinvar
133608237 1454.77 G A PASS 0/1 101 NON_SYNONYMOUS_CODING MODERATE None 0.50619 0.50620 0.83 None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs4897741
dbSNP Clinvar
133608210 1389.77 A G PASS 0/1 99 NON_SYNONYMOUS_CODING MODERATE None 0.58526 0.58530 0.00 None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs4897782
dbSNP Clinvar
133607937 823.77 G A PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.54493 0.54490 0.00 None None None None None None None

AL603965.1

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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 . 47769356 94.43 CGG AGA PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs782408852
dbSNP Clinvar
47769386 10.63 G A PASS 0/1 15 SYNONYMOUS_CODING LOW None None None None None None None None

ALOX5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs4987105
dbSNP Clinvar
45869748 2937.77 C T PASS 1/1 77 SYNONYMOUS_CODING LOW None 0.17093 0.17090 0.12315 None None None None None None ALOX5|0.283681032|28.83%

ANK3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs568053112
dbSNP Clinvar
61831440 1098.77 C T PASS 0/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.00120 0.00120 0.09 0.01 4.68 0.01 0.22784 T None None None None ANK3|0.919303788|3%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs2297979
dbSNP Clinvar
61965625 994.77 A G PASS 0/1 51 SYNONYMOUS_CODING LOW None 0.15156 0.15160 0.18176 None None None None None None ANK3|0.919303788|3%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs12356776
dbSNP Clinvar
61819556 1211.77 G A PASS 0/1 98 None None None 0.01757 0.01757 0.02491 None None None None None None ANK3|0.919303788|3%

ANKRD16

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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs3750659
dbSNP Clinvar
5931230 743.77 C T PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.06050 0.06050 0.01854 0.13 0.00 2.25 None None None None None None ANKRD16|0.021840736|73.25%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs631947
dbSNP Clinvar
5925971 1124.77 C A PASS 0/1 72 SYNONYMOUS_CODING LOW None 0.92252 0.92250 0.08435 None None None None None None ANKRD16|0.021840736|73.25%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs2296136
dbSNP Clinvar
5929962 1588.77 G C PASS 0/1 142 NON_SYNONYMOUS_CODING MODERATE None 0.06050 0.06050 0.02645 0.01 1.00 5.08 None None None None None None ANKRD16|0.021840736|73.25%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs1052420
dbSNP Clinvar
5920121 1572.77 T C PASS 0/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.80391 0.80390 0.17846 0.33 0.00 1.50 None None None None None None ANKRD16|0.021840736|73.25%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs3750656
dbSNP Clinvar
5926034 873.77 T C PASS 0/1 74 SYNONYMOUS_CODING LOW None 0.06350 0.06350 0.02691 None None None None None None ANKRD16|0.021840736|73.25%

ANKRD2

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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs12221474
dbSNP Clinvar
99332488 658.77 A C PASS 0/1 89 SYNONYMOUS_CODING LOW None 0.35344 0.35340 0.24835 None None None None None None ANKRD2|0.135833884|44.99%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs7094973
dbSNP Clinvar
99337572 1706.77 G A PASS 0/1 108 NON_SYNONYMOUS_CODING MODERATE None 0.45407 0.45410 0.43891 0.59 0.00 -0.35 None None None None None None ANKRD2|0.135833884|44.99%

ANKRD22

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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs7893917
dbSNP Clinvar
90585819 91.77 G A PASS 0/1 16 SYNONYMOUS_CODING LOW None 0.34125 0.34130 0.32816 None None None None None None ANKRD22|0.085075807|54.17%

ANKRD26

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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs7897309
dbSNP Clinvar
27389197 941.77 T C PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.94469 0.94470 0.10655 1.00 0.00 -1.52 None None None None None None ANKRD26|0.003195391|88.32%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs558881577
dbSNP Clinvar
27306440 69.77 T C PASS 0/1 7 SYNONYMOUS_CODING LOW None 0.00020 0.00020 None None None None None None ANKRD26|0.003195391|88.32%

ANKRD30A

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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs2997349
dbSNP Clinvar
37478445 368.88 G A PASS 1/1 13 SYNONYMOUS_CODING LOW None 0.93171 0.93170 None None None None None None ANKRD30A|0.001436042|93.14%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs1148259
dbSNP Clinvar
37508450 1128.77 A C PASS 1/1 34 SYNONYMOUS_CODING LOW None 0.53355 0.53350 0.40857 None None None None None None ANKRD30A|0.001436042|93.14%

ANTXRL

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 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs7091749
dbSNP Clinvar
47701302 189.77 G C PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.01078 0.80850 None None None None None None ANTXRL|0.000107209|99.93%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs78797099
dbSNP Clinvar
47658590 1826.77 G C PASS 0/1 138 NON_SYNONYMOUS_CODING MODERATE None 0.07368 0.07368 0.10 0.35 -1.50 None None None None None None ANTXRL|0.000107209|99.93%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 10 rs78983634
dbSNP Clinvar
47658597 1637.77 T G PASS 0/1 138 NON_SYNONYMOUS_CODING MODERATE None 0.07308 0.07308 0.16 0.63 0.17 None None None None None None ANTXRL|0.000107209|99.93%