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Genes:
ABCC2, ABLIM1, ACADSB, ACBD5, ADAM12, ADAM8, ADAMTS14, ADARB2, ADIRF, ADO, ADRB1, AFAP1L2, AGAP5, AGAP6, AGAP7, AGAP8, AIFM2, AKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1CL1, AL162407.1, AL359195.1, AL359878.1, AL450307.1, AL603965.1, ALDH18A1, ANK3, ANKRD16, ANKRD2, ANKRD22, ANKRD26, ANKRD30A, ANTXRL, ANXA11, ANXA8L2, APBB1IP, ARHGAP19, ARHGAP21, ARHGAP22, ARID5B, ARL3, ARMC4, ARMS2, ASAH2C, ATE1, ATRNL1, AVPI1, BAG3, BEND7, BICC1, BMS1, BTBD16, BTRC, C10ORF68, C10orf107, C10orf12, C10orf120, C10orf128, C10orf129, C10orf35, C10orf53, C10orf54, C10orf67, C10orf71, C10orf90, CALHM1, CALHM3, CALML3, CAMK1D, CASP7, CC2D2B, CCAR1, CCDC3, CCDC6, CCDC7, CCNY, CCSER2, CDH23, CDHR1, CELF2, CEP55, CH25H, CHAT, CHST3, CNNM1, CNNM2, COL13A1, COL17A1, COX15, CPEB3, CPXM2, CRTAC1, CTBP2, CTNNA3, CUBN, CUL2, CYP17A1, CYP26C1, CYP2C18, CYP2C19, CYP2C8, CYP2E1, DCLRE1A, DCLRE1C, DDX50, DHTKD1, DHX32, DIP2C, DKK1, DLG5, DMBT1, DNMBP, DNTT, DOCK1, DPYSL4, DUPD1, DUSP13, DUSP5, EBLN1, ECHDC3, ECHS1, EDRF1, EGR2, EIF3A, EIF4EBP2, ELOVL3, ENO4, ENTPD7, EPC1, ERCC6, ERCC6-PGBD3, EXOC6, FAM13C, FAM160B1, FAM170B, FAM175B, FAM178A, FAM196A, FAM208B, FAM21A, FAM21B, FAM25A, FAM35A, FAM45A, FANK1, FAS, FFAR4, FGFBP3, FGFR2, FRA10AC1, FRG2B, FRMD4A, FRMPD2, FZD8, GBF1, GFRA1, GLRX3, GPAM, GPR123, GPR158, GPR26, GPRIN2, GRK5, GSTO1, GTPBP4, HABP2, HECTD2, HELLS, HIF1AN, HK1, HKDC1, HOGA1, HPS1, HPSE2, HSPA12A, HTRA1, IDI2, IFIT1, IFIT1B, IFIT2, IFIT3, IFIT5, IL15RA, INPP5A, ITGA8, ITGB1, ITIH2, ITIH5, JAKMIP3, JMJD1C, KAT6B, KAZALD1, KCNK18, KIAA1217, KIAA1462, KIF20B, KNDC1, LGI1, LHPP, LIPA, LIPJ, LIPM, LIPN, LOXL4, LRIT1, LRIT2, LRRC27, LYZL1, LYZL2, MALRD1, MAP3K8, MARCH8, MARVELD1, MASTL, MBL2, MEIG1, MGMT, MKI67, MKX, MMP21, MMRN2, MMS19, MPP7, MRC1L1, MSRB2, MTG1, MTPAP, MXI1, MYO3A, MYOF, MYPN, NAMPTL, NCOA4, NDUFB8, NEBL, NET1, NEURL1, NEUROG3, NFKB2, NKX6-2, NOC3L, NODAL, NPFFR1, NPY4R, NRAP, NRG3, NRP1, NT5C2, NUDT5, NUTM2A, NUTM2D, OBFC1, OGDHL, OLAH, OPN4, OPTN, PALD1, PANK1, PAOX, PAPSS2, PARD3, PBLD, PCDH15, PCGF6, PDCD11, PDCD4, PDZD8, PFKFB3, PFKP, PHYH, PHYHIPL, PIK3AP1, PIP4K2A, PITRM1, PKD2L1, PLCE1, PLEKHA1, PLEKHS1, PLXDC2, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, POLL, PPAPDC1A, PPIF, PPP2R2D, PPP3CB, PRAP1, PRDX3, PRF1, PRKCQ, PRLHR, PROSER2, PRPF18, PRR26, PSAP, PSTK, PTCHD3, PTER, PTF1A, PTPLA, PWWP2B, PYROXD2, R3HCC1L, RAB11FIP2, RASSF4, RBM20, RET, RNLS, RP11-248J23.6, RP11-451M19.3, RPP38, RRP12, RSU1, RTKN2, RUFY2, SEC23IP, SEC31B, SEC61A2, SEMA4G, SEPHS1, SFMBT2, SFTPA1, SFTPA2, SFTPD, SFXN4, SGPL1, SH2D4B, SH3PXD2A, SLC16A9, SLC18A3, SLC29A3, SLC39A12, SLIT1, SLK, SMC3, SORBS1, SORCS1, SORCS3, SPOCK2, SPRN, SRGN, ST8SIA6, STK32C, STOX1, SUPV3L1, SVIL, SYCE1, SYT15, TACC2, TACR2, TAF5, TBATA, TBC1D12, TCERG1L, TCF7L2, TET1, TEX36, THNSL1, TIMM23, TMEM180, TMEM254, TMEM72, TTC40, TUBAL3, TUBB8, TUBGCP2, TYSND1, UBE2D1, UCMA, UNC5B, USP6NL, UTF1, VENTX, VSTM4, WAPAL, WBP1L, WDFY4, WDR11, WDR37, WNT8B, ZFAND4, ZFYVE27, ZMYND11, ZNF239, ZNF33B, ZNF365, ZNF37A, ZNF487, ZNF488, ZRANB1, ZWINT,

Genes at Omim

ABCC2, ACADSB, ADRB1, AKR1C2, AKR1C4, ALDH18A1, ANK3, ANKRD26, ANXA11, ARL3, ARMC4, BAG3, BICC1, BMS1, CDH23, CDHR1, CEP55, CHAT, CHST3, CNNM2, COL13A1, COL17A1, COX15, CTNNA3, CUBN, CYP17A1, CYP26C1, CYP2C8, DCLRE1C, DHTKD1, ECHS1, EGR2, ERCC6, FAS, FFAR4, FGFR2, FRMD4A, HABP2, HELLS, HK1, HOGA1, HPS1, HPSE2, HTRA1, ITGA8, KAT6B, KCNK18, LGI1, LIPA, LIPN, MAP3K8, MBL2, MMP21, MTPAP, MXI1, MYO3A, MYPN, NDUFB8, NEUROG3, NFKB2, NKX6-2, NODAL, NT5C2, OPTN, PAPSS2, PCDH15, PHYH, PLCE1, PNLIP, PRF1, PSAP, PTF1A, RBM20, RET, SFTPA2, SFXN4, SGPL1, SLC18A3, SLC29A3, SMC3, STOX1, SYCE1, TCF7L2, TUBB8, WDR11, 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)
ALDH18A1 Cutis laxa, autosomal dominant 3, 616603 (3)
Cutis laxa, autosomal recessive, type IIIA, 219150 (3)
Spastic paraplegia 9A, autosomal dominant, 601162 (3)
Spastic paraplegia 9B, autosomal recessive, 616586 (3)
ANK3 ?Mental retardation, autosomal recessive, 37, 615493 (3)
ANKRD26 Thrombocytopenia 2, 188000 (3)
ANXA11 Amytrophic lateral sclerosis 23, 617839 (3)
ARL3 Joubert syndrome 35, 618161 (3)
?Retinitis pigmentosa 83, 618173 (3)
ARMC4 Ciliary dyskinesia, primary, 23, 615451 (3)
BAG3 Cardiomyopathy, dilated, 1HH, 613881 (3)
Myopathy, myofibrillar, 6, 612954 (3)
BICC1 {Renal dysplasia, cystic, susceptibility to}, 601331 (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)
CHST3 Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3)
CNNM2 Hypomagnesemia 6, renal, 613882 (3)
Hypomagnesemia, seizures, and mental retardation, 616418 (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)
CTNNA3 Arrhythmogenic right ventricular dysplasia, familial, 13, 615616 (3)
CUBN Megaloblastic anemia-1, Finnish type, 261100 (3)
CYP17A1 17,20-lyase deficiency, isolated, 202110 (3)
17-alpha-hydroxylase/17,20-lyase deficiency, 202110 (3)
CYP26C1 Focal facial dermal dysplasia 4, 614974 (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)
FFAR4 {Obesity, susceptibility to}, 607514 (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)
HOGA1 Hyperoxaluria, primary, type III, 613616 (3)
HPS1 Hermansky-Pudlak syndrome 1, 203300 (3)
HPSE2 Urofacial syndrome 1, 236730 (3)
HTRA1 CARASIL syndrome, 600142 (3)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 (3)
{Macular degeneration, age-related, 7}, 610149 (3)
{Macular degeneration, age-related, neovascular type}, 610149 (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)
LGI1 Epilepsy, familial temporal lobe, 1, 600512 (3)
LIPA Cholesteryl ester storage disease, 278000 (3)
Wolman disease, 278000 (3)
LIPN Ichthyosis, congenital, autosomal recessive 8, 613943 (3)
MAP3K8 Lung cancer, somatic, 211980 (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)
MXI1 Neurofibrosarcoma, somatic (3)
Prostate cancer, somatic, 176807 (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)
NDUFB8 Mitochondrial complex I deficiency, nuclear type 32, 618252 (3)
NEUROG3 Diarrhea 4, malabsorptive, congenital, 610370 (3)
NFKB2 Immunodeficiency, common variable, 10, 615577 (3)
NKX6-2 Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 (3)
NODAL Heterotaxy, visceral, 5, 270100 (3)
NT5C2 Spastic paraplegia 45, autosomal recessive, 613162 (3)
OPTN {Glaucoma, normal tension, susceptibility to}, 606657 (3)
Amyotrophic lateral sclerosis 12, 613435 (3)
Glaucoma 1, open angle, E, 137760 (3)
PAPSS2 Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 (3)
PCDH15 Deafness, autosomal recessive 23, 609533 (3)
Usher syndrome, type 1D/F digenic, 601067 (3)
Usher syndrome, type 1F, 602083 (3)
PHYH Refsum disease, 266500 (3)
PLCE1 Nephrotic syndrome, type 3, 610725 (3)
PNLIP ?Pancreatic lipase deficiency, 614338 (3)
PRF1 Aplastic anemia, 609135 (3)
Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)
Lymphoma, non-Hodgkin, 605027 (3)
PSAP Gaucher disease, atypical, 610539 (3)
Combined SAP deficiency, 611721 (3)
Krabbe disease, atypical, 611722 (3)
Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3)
PTF1A Pancreatic agenesis 2, 615935 (3)
Pancreatic and cerebellar agenesis, 609069 (3)
RBM20 Cardiomyopathy, dilated, 1DD, 613172 (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)
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)
SYCE1 ?Premature ovarian failure 12, 616947 (3)
?Spermatogenic failure 15, 616950 (3)
TCF7L2 {Diabetes mellitus, type 2, susceptibility to}, 125853 (3)
TUBB8 Oocyte maturation defect 2, 616780 (3)
WDR11 Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 (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, ALDH18A1, ANKRD26, ARMC4, BAG3, BICC1, BMS1, CDH23, CDHR1, CHAT, CHST3, CNNM2, COL13A1, COL17A1, COX15, CTNNA3, CUBN, CYP17A1, CYP26C1, CYP2C19, CYP2C8, DCLRE1C, DHTKD1, ECHS1, EGR2, ERCC6, FAS, FGFR2, FRMD4A, HABP2, HELLS, HK1, HOGA1, HPS1, HPSE2, HTRA1, ITGA8, KAT6B, KCNK18, LGI1, LIPA, LIPN, MASTL, MBL2, MMP21, MTPAP, MYO3A, MYPN, NEUROG3, NFKB2, NODAL, NT5C2, OPTN, PAPSS2, PCDH15, PHYH, PLCE1, PRF1, PSAP, PTF1A, RBM20, RET, SFTPA2, SFXN4, SLC29A3, SMC3, SYCE1, TUBB8, WDR11, ZFYVE27, ZMYND11,
ABCC2 Dubin-Johnson syndrome
ACADSB 2-methylbutyryl-CoA dehydrogenase deficiency
ADRB1 Beta-blocker response, association with
AKR1C2 46,XY sex reversal 8
ALDH18A1 Cutis laxa, autosomal dominant 3
Spastic paraplegia 9A, autosomal dominant
Cutis laxa, autosomal recessive, type IIIA
Spastic paraplegia 9B, autosomal recessive
ANKRD26 Thrombocytopenia 2
ARMC4 Ciliary dyskinesia, primary, 23
BAG3 Cardiomyopathy, dilated, 1HH
Myopathy, myofibrillar 6
BICC1 Renal dysplasia, cystic, susceptibility to
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
CHST3 Spondyloepiphyseal dysplasia with congenital joint dislocations
CNNM2 Hypomagnesemia 6 ,renal
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
CTNNA3 Arrhythmogenic right ventricular dysplasia, familial, 13
CUBN Megaloblastic anemia-1, Finnish type
CYP17A1 Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency
CYP26C1 Focal facial dermal dysplasia 4
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
HOGA1 Hyperoxaluria, primary, type III
HPS1 Hermansky-Pudlak syndrome 1
HPSE2 Ochoa syndrome
Urofacial syndrome 1
HTRA1 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2 (CADASIL2)
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)
ITGA8 Renal agenesis, bilateral
KAT6B Ohdo syndrome, SBBYS variant
Genitopatellar syndrome
KCNK18 Migraine, with or without aura, susceptibility to, 13
LGI1 Epilepsy, familial temporal lobe, 1
LIPA Cholesterol ester storage disease
Wolman disease
LIPN Ichthyosis, congenital, autosomal recessive 8
MASTL Thrombocytopenia 2
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
NT5C2 Spastic paraplegia 45
OPTN Glaucoma, normal tension, susceptibility to
Glaucoma 1, open angle, E
PAPSS2 Brachyolmia 4 with mild epiphyseal and metaphyseal changes
PCDH15 Deafness, autosomal recessive 23
Usher syndrome, type 1F
Usher syndrome, type 1D/F, digenic
PHYH Refsum disease
PLCE1 Nephrotic syndrome, type 3
PRF1 Hemophagocytic lymphohistiocytosis, familial, 2
Lymphoma, non-Hodgkin
Aplastic anemia, adult-onset
PSAP Krabbe disease, atypical
Combined saposin deficiency
Gaucher disease, atypical, due to saposin C deficiency
Metachromatic leukodystrophy due to saposin-b deficiency
PTF1A Pancreatic and cerebellar agenesis
Pancreatic agenesis 2
RBM20 Cardiomyopathy, dilated, 1DD
RET Central hypoventilation syndrome, congenital
Multiple endocrine neoplasia, type IIA
Multiple endocrine neoplasia IIB
Medullary thyroid carcinoma, familial
Pheochromocytoma
Hirschsprung disease, susceptibility to 1
SFTPA2 Pulmonary fibrosis, idiopathic
SFXN4 Combined oxidative phosphorylation deficiency 18
SLC29A3 Histiocytosis-lymphadenopathy plus syndrome
SMC3 Cornelia de Lange syndrome 3
SYCE1 Premature ovarian failure 12
TUBB8 Oocyte maturation defect 2
WDR11 Hypogonadotropic hypogonadism
Kallmann syndrome
ZFYVE27 Spastic paraplegia 33, autosomal dominant
ZMYND11 Mental retardation, autosomal domianant, 30

Genes at HGMD

Summary

Number of Variants: 3498
Number of Genes: 395

Export to: CSV

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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs3740066
dbSNP Clinvar
101604207 979.77 C T PASS 0/1 59 None None None 0.28814 0.28810 0.33354 None None None None None None ABCC2|0.186653982|38.2%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs927344
dbSNP Clinvar
101544447 1811.77 A T PASS 1/1 44 None None None 0.99461 0.99460 0.00654 1.00 0.00 1.61 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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs985273
dbSNP Clinvar
116335246 640.77 G A PASS 0/1 59 None None None 0.30451 0.30450 0.26695 None None None None None None ABLIM1|0.44358146|18.51%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs376850020
dbSNP Clinvar
116227970 335.77 C T PASS 0/1 17 None None None 0.00399 0.00399 0.00008 None None None None None None ABLIM1|0.44358146|18.51%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs2247528
dbSNP Clinvar
116307504 484.77 A G PASS 0/1 61 None None 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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs1140591
dbSNP Clinvar
124800853 921.77 C T PASS 0/1 74 None None 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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs10764690
dbSNP Clinvar
27508758 322.77 T C PASS 0/1 20 None None 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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs1278279
dbSNP Clinvar
127753478 1555.77 G A PASS 0/1 86 None None None 0.30272 0.30270 0.25427 None None None None None None ADAM12|0.075293986|56.23%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs2292692
dbSNP Clinvar
127737930 925.77 G A PASS 0/1 63 None None 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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs1131718
dbSNP Clinvar
135085754 2629.77 G A PASS 1/1 61 None None None 0.88359 0.88360 0.12098 None None None None None None ADAM8|0.004556093|86.35%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs1131719
dbSNP Clinvar
135085426 3728.77 A G PASS 1/1 86 None None None 0.91893 0.91890 0.08042 None None None None None None ADAM8|0.004556093|86.35%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs2275725
dbSNP Clinvar
135089035 2559.77 A G PASS 1/1 62 None None 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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs2275720
dbSNP Clinvar
135082346 3244.77 A G PASS 1/1 73 None None 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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs1131720
dbSNP Clinvar
135085321 2943.77 C T PASS 1/1 71 None None None 0.84665 0.84660 0.15147 None None None None None None ADAM8|0.004556093|86.35%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs3008326
dbSNP Clinvar
135087521 874.77 G A PASS 0/1 84 None None 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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs61749230
dbSNP Clinvar
72468473 2561.77 C T PASS 0/1 192 None None 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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs10823615
dbSNP Clinvar
72520330 3608.77 A G PASS 1/1 96 None None None 0.00140 0.38600 0.36422 None None None None None None ADAMTS14|0.04385867|64.56%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs2587475
dbSNP Clinvar
72513682 2729.77 C T PASS 1/1 61 None None None 0.52516 0.52520 0.45384 None None None None None None ADAMTS14|0.04385867|64.56%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs10999502
dbSNP Clinvar
72503344 2224.77 G A PASS 0/1 120 None None None 0.31150 0.31150 0.19868 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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs2271275
dbSNP Clinvar
1230968 1165.77 C T PASS 1/1 28 None None 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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs4869
dbSNP Clinvar
88730312 3232.77 T C PASS 1/1 79 None None None 0.52716 0.52720 0.48224 None None None None None None ADIRF|0.020192818|74.07%

ADO

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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs10995311
dbSNP Clinvar
64564934 718.77 C G PASS 0/1 55 None None None 0.24541 0.24540 0.30918 0.16 0.00 0.41 None None None None None None ADO|0.461596231|17.6%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs2236295
dbSNP Clinvar
64564892 715.77 G T PASS 0/1 44 None None None 0.21166 0.21170 0.26402 0.09 0.58 6.23 None None None None None None ADO|0.461596231|17.6%

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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs1801253
dbSNP Clinvar
115805056 1979.77 G C PASS 1/1 48 None None 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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs3813722
dbSNP Clinvar
116073696 1162.77 C T PASS 0/1 70 None None None 0.58486 0.58490 0.42019 None None None None None None AFAP1L2|0.092781823|52.66%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs621375
dbSNP Clinvar
116073801 1170.77 T C PASS 0/1 58 None None None 0.35443 0.35440 0.34307 None None None None None None AFAP1L2|0.092781823|52.66%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs2286396
dbSNP Clinvar
116060387 2940.77 T C PASS 0/1 191 None None None 0.64157 0.64160 0.31855 None None None None None None AFAP1L2|0.092781823|52.66%

AGAP5

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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs757041103
dbSNP Clinvar
75434438 500.63 C T PASS 0/1 69 None None None 1.38 None None None None None None AGAP5|0.009639275|81.14%

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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs61848275
dbSNP Clinvar
51769799 430.05 C T PASS 0/1 74 None None None 0.06510 0.06510 None None None None None None AGAP6|0.003119632|88.45%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs61848260
dbSNP Clinvar
51748684 194.77 G A PASS 0/1 33 None None None 0.50020 0.50020 0.17 0.00 2.05 None None None None None None AGAP6|0.003119632|88.45%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs75102885
dbSNP Clinvar
51748584 35.01 A G PASS 0/1 34 None None None 1.00 0.00 -0.56 None None None None None None AGAP6|0.003119632|88.45%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 51768674 2963.73 CAAA CA PASS 0/1 133 None None 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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs201025969
dbSNP Clinvar
51465138 728.75 C T PASS 0/1 184 None None None 0.16673 0.16670 0.03 0.64 None None None None None None AGAP7P|0.001668593|92.02%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs61850064
dbSNP Clinvar
51465552 5348.38 A T PASS 1/1 184 None None None 1.00 0.00 None None None None None None AGAP7P|0.001668593|92.02%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs4043619
dbSNP Clinvar
51465783 196.44 T C PASS 0/1 129 None None None 0.10 0.00 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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs782795368
dbSNP Clinvar
51225872 1893.09 G T PASS 1/1 125 None None None None None None None None None None
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs782494670
dbSNP Clinvar
51226118 1736.55 G A PASS 1/1 178 None None None None None None None None None None
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs587639552
dbSNP Clinvar
51225029 511.1 G A PASS 0/1 62 None None None 0.00260 0.00260 None None None None None None None
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs80103077
dbSNP Clinvar
51225623 1314.43 A G PASS 1/1 82 None None None 0.82029 0.82030 None None None None None None None
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs200027998
dbSNP Clinvar
51225724 427.3 G C PASS 1/1 54 None None None 0.37460 0.37460 0.03 0.96 None None None None None None None

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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs2394656
dbSNP Clinvar
71876382 2666.77 C T PASS 1/1 66 None None None 0.60064 0.60060 0.32316 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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs1138600
dbSNP Clinvar
5010572 581.4 A G PASS 1/1 65 None None None 0.99720 0.99720 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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs13945
dbSNP Clinvar
5042784 384.77 G A PASS 0/1 31 None None 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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs12529
dbSNP Clinvar
5136651 104.77 C G PASS 0/1 14 None None 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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs12387
dbSNP Clinvar
5139685 734.77 G A PASS 1/1 19 None None None 0.84824 0.84820 0.15693 None None None None None None AKR1C3|0.002438134|89.81%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs7741
dbSNP Clinvar
5138607 213.77 G A PASS 0/1 17 None None None 0.21625 0.21630 0.34805 None None None None None None AKR1C3|0.002438134|89.81%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs4881396
dbSNP Clinvar
5120157 174.84 G T PASS 1/1 5 None None None 0.87201 0.87200 0.71 0.04 -0.35 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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs4880718
dbSNP Clinvar
5255025 4704.77 A G PASS 1/1 114 None None None 0.99980 0.99980 1.00 0.00 -1.64 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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs2151896
dbSNP Clinvar
5244441 1163.77 A G PASS 1/1 30 None None None 0.56110 0.56110 None None None None None None AKR1C4|0.002829069|88.97%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs2020172
dbSNP Clinvar
5200861 40.77 C A PASS 0/1 4 None None None 0.17252 0.17250 0.01 1.00 None None None None None None None
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs1781935
dbSNP Clinvar
5199934 1401.77 G C PASS 0/1 95 None None None 0.60204 0.60200 0.01 0.95 None None None None None None None
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs11253021
dbSNP Clinvar
5203864 221.77 C T PASS 0/1 24 None None None 0.18131 0.18130 0.31209 None None None None None None None
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs7097295
dbSNP Clinvar
5204928 422.77 C T PASS 0/1 26 None None None 0.18151 0.18150 0.31201 0.06 0.10 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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs7895609
dbSNP Clinvar
115675025 624.77 G A PASS 0/1 36 None None 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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs2573326
dbSNP Clinvar
82013146 491.77 T C PASS 0/1 37 None None None 0.59844 0.59840 1.00 0.00 None None None None None None None
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs371942102
dbSNP Clinvar
82013258 504.77 C T PASS 0/1 41 None None None 0.00379 0.00379 1.00 0.00 None None None None None None None

AL359878.1

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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs4880745
dbSNP Clinvar
1018585 882.77 T G PASS 0/1 49 None None 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
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs4897743
dbSNP Clinvar
133608292 958.77 T G PASS 0/1 33 None None None 0.50539 0.50540 0.00 None None None None None None None
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs4897783
dbSNP Clinvar
133608237 682.77 G A PASS 0/1 63 None None None 0.50619 0.50620 0.83 None None None None None None None
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs4897741
dbSNP Clinvar
133608210 1106.77 A G PASS 0/1 70 None None None 0.58526 0.58530 0.00 None None None None None None None
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs184471477
dbSNP Clinvar
133607952 780.77 G T PASS 0/1 48 None None None 0.00978 0.00978 0.00 None None None None None None None
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs4897740
dbSNP Clinvar
133607947 780.77 T G PASS 0/1 49 None None None 0.58447 0.58450 None None None None None None None
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs4897782
dbSNP Clinvar
133607937 780.77 G A PASS 0/1 50 None None None 0.54493 0.54490 0.00 None None None None None None None
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs4897742
dbSNP Clinvar
133608291 958.77 T G PASS 0/1 33 None None None 0.50559 0.50560 0.01 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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs782340671
dbSNP Clinvar
47769358 294.21 G A PASS 0/1 39 None None None 0.97 None None None None None None None
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs2801082
dbSNP Clinvar
47769462 75.91 C G PASS 1/1 28 None None None 0.00 None None None None None None None

ALDH18A1

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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs2275272
dbSNP Clinvar
97388162 429.77 G A PASS 0/1 31 None None None 0.07169 0.07169 0.10118 0.07 0.15 5.15 None None None None None None ALDH18A1|0.458870791|17.74%

ANK3

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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs10821668
dbSNP Clinvar
61831271 764.77 T C PASS 0/1 41 None None None 0.12580 0.12580 0.18991 0.94 0.00 0.92 None None None None None None ANK3|0.919303788|3%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs3750800
dbSNP Clinvar
61868716 857.77 C A PASS 0/1 56 None None None 0.17911 0.17910 0.23958 None None None None None None ANK3|0.919303788|3%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs141939315
dbSNP Clinvar
61802477 295.77 C T PASS 0/1 26 None None None 0.00539 0.00539 0.00484 0.00 0.40 7.94 None None None None None None ANK3|0.919303788|3%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs10740006
dbSNP Clinvar
61831744 435.77 A G PASS 0/1 38 None None None 0.12600 0.12600 0.19053 None None None None None None ANK3|0.919303788|3%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs10994234
dbSNP Clinvar
61926398 395.77 A G PASS 0/1 23 None None None 0.05970 0.05970 0.03384 None None None None None None ANK3|0.919303788|3%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs2297979
dbSNP Clinvar
61965625 442.77 A G PASS 0/1 34 None None None 0.15156 0.15160 0.18176 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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs1052420
dbSNP Clinvar
5920121 2611.77 T C PASS 1/1 62 None None 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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs631947
dbSNP Clinvar
5925971 2019.77 C A PASS 1/1 49 None None None 0.92252 0.92250 0.08435 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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs12221474
dbSNP Clinvar
99332488 1354.77 A C PASS 0/1 77 None None None 0.35344 0.35340 0.24835 None None None None None None ANKRD2|0.135833884|44.99%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs7094973
dbSNP Clinvar
99337572 2302.77 G A PASS 0/1 132 None None 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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs7893917
dbSNP Clinvar
90585819 167.77 G A PASS 0/1 15 None None None 0.34125 0.34130 0.32816 None None None None None None ANKRD22|0.085075807|54.17%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs199828548
dbSNP Clinvar
90591659 304.77 C T PASS 0/1 26 None None None 0.00379 0.00379 0.56 0.99 2.01 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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs7897309
dbSNP Clinvar
27389197 1364.77 T C PASS 1/1 35 None None None 0.94469 0.94470 0.10655 1.00 0.00 -1.52 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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs2997349
dbSNP Clinvar
37478445 809.84 G A PASS 1/1 25 None None None 0.93171 0.93170 None None None None None None ANKRD30A|0.001436042|93.14%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs766859767
dbSNP Clinvar
37454035 328.77 A T PASS 0/1 13 None None None None None None None None None ANKRD30A|0.001436042|93.14%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs1148259
dbSNP Clinvar
37508450 343.77 A C PASS 1/1 9 None None 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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs78797099
dbSNP Clinvar
47658590 1985.77 G C PASS 0/1 94 None None None 0.07368 0.07368 0.10 0.35 -1.50 None None None None None None ANTXRL|0.000107209|99.93%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs78983634
dbSNP Clinvar
47658597 1968.77 T G PASS 0/1 96 None None None 0.07308 0.07308 0.16 0.63 0.17 None None None None None None ANTXRL|0.000107209|99.93%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs7091749
dbSNP Clinvar
47701302 358.77 G C PASS 0/1 26 None None None 0.01078 0.80850 None None None None None None ANTXRL|0.000107209|99.93%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs61845226
dbSNP Clinvar
47669277 495.77 C G PASS 0/1 26 None None None 0.34285 0.34290 0.14 0.63 0.21 None None None None None None ANTXRL|0.000107209|99.93%

ANXA11

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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs1049550
dbSNP Clinvar
81926702 873.77 G A PASS 0/1 58 None None None 0.39217 0.39220 0.33923 0.02 1.00 7.42 None None None None None None ANXA11|0.080075284|55.15%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs34003188
dbSNP Clinvar
81928830 885.77 G A PASS 0/1 55 None None None 0.00879 0.00879 0.01341 None None None None None None ANXA11|0.080075284|55.15%

ANXA8L2

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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs77623921
dbSNP Clinvar
47756065 1870.77 C T PASS 0/1 132 None None None 0.13877 None None None None None None None

APBB1IP

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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 26856156 11.34 A G PASS 0/1 5 None None None None None None None None None APBB1IP|0.030225745|69.31%

ARHGAP19

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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs2253301
dbSNP Clinvar
99019177 1141.77 A G PASS 1/1 31 None None None 0.84445 0.84440 0.10049 None None None None None None ARHGAP19-SLIT1|0.508518585|15.45%,ARHGAP19|0.371362941|22.63%

ARHGAP21

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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs10734053
dbSNP Clinvar
24879281 655.77 A G PASS 1/1 15 None None None 1.00000 1.00000 None None None None None None ARHGAP21|0.073197055|56.74%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs1127893
dbSNP Clinvar
24873369 1145.77 C G PASS 0/1 78 None None None 0.00100 0.49260 0.49347 0.32 0.00 -1.75 None None None None None None ARHGAP21|0.073197055|56.74%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs3748222
dbSNP Clinvar
24908686 839.77 T C PASS 0/1 58 None None None 0.43830 0.43830 0.49047 1.00 0.00 -1.92 None None None None None None ARHGAP21|0.073197055|56.74%

ARHGAP22

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 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs3853761
dbSNP Clinvar
49667795 1336.77 T C PASS 1/1 34 None None None 0.90196 0.90200 0.10449 None None None None None None ARHGAP22|0.033591165|67.92%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs10776601
dbSNP Clinvar
49659559 4839.77 C T PASS 1/1 109 None None None 0.79193 0.79190 0.68 0.00 -0.02 None None None None None None ARHGAP22|0.033591165|67.92%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs3827681
dbSNP Clinvar
49659637 985.77 T C PASS 0/1 61 None None None 0.50280 0.50280 0.00 0.32 None None None None None None ARHGAP22|0.033591165|67.92%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs4080665
dbSNP Clinvar
49687800 1642.77 G A PASS 1/1 40 None None None 0.78934 0.78930 0.25035 None None None None None None ARHGAP22|0.033591165|67.92%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 rs72796303
dbSNP Clinvar
49659644 825.77 A G PASS 0/1 58 None None None 0.07768 0.07768 None None None None None None ARHGAP22|0.033591165|67.92%