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Genes:
ABCA2, ACAN, AIRE, AKAP13, ALG12, ALG8, ALS2, ANAPC1, AP000350.4, AQP7, ARID1B, ATF5, ATP10A, ATP1A4, AXIN2, BAAT, BLM, BSND, BTNL2, CACNA1A, CACNB2, CBR1, CCDC8, CD96, CDH3, CDHR1, CDSN, CHRNA3, CLEC4M, CLPTM1, CNOT4, COL17A1, COL18A1, CSGALNACT1, CTBP2, CYP2A6, DHCR7, DLGAP3, DRD4, DSG4, DST, EDAR, EGFL7, EXO1, FAM120AOS, FLVCR2, FMN2, FMO3, FOXD4, FOXD4L6, FOXE1, FREM2, FRG1, FRG1B, FTCD, FYCO1, GABRD, GCSH, GRIN2B, GRIN3A, GRM2, GSTM4, GSTT2B, HERC2, HLA-C, HLA-DQA1, HLA-DQB1, HLA-DQB2, HLA-DRB1, HLA-DRB5, HLA-F, HNF1A, HPR, HPS6, HRC, HSD17B1, HSD3B7, HSPA1L, HTR3D, HTR7, HYDIN, IGF1R, IGHA2, IGHG1, IGHG2, IL17RA, INF2, INVS, IRF2BPL, KCNH6, KCNJ12, KCNN3, KCNS2, KERA, KIR3DL2, KIRREL3, KLK12, KMT2C, KMT2D, KRT19, KRT3, KRT6B, KRT79, KRT84, LAMA5, LEPREL1, LILRA6, LILRB3, LILRB5, LRP8, MAN1B1, MSH3, MUC2, MUC3A, MUC4, MUC5B, MUC6, MUC7, MYH14, MYH3, MYH6, MYLK, MYO7B, MYPN, NBPF1, NBPF10, NBPF12, NBPF9, NCAM1, NCF4, NDUFA11, NDUFS3, NEFH, NEUROD1, NKX2-2, NLGN2, NLGN4Y, NOBOX, NOD2, NOTCH2NL, OBSCN, OFD1, OPRL1, OPTN, PCDHA9, PCDHB16, PCDHB3, PCDHB6, PCDHB7, PCDHB8, PCNT, PDZD7, PIKFYVE, PITX2, PLIN4, PML, POTEE, POTEF, POTEI, POTEJ, PPIAL4G, PRB1, PRB2, PRB3, PRB4, PRG4, PRND, PROKR2, PTPRD, PVRL1, RFX6, RGPD4, RIMS1, RNF213, RP11-683L23.1, RRP12, SAA1, SCARB1, SCNN1A, SELPLG, SEZ6L2, SH3BP2, SLC52A1, SLCO1B7, SOX10, SOX9, SPI1, SYNGAP1, SYNGR1, TAS2R19, TAS2R31, TBX4, TEP1, THADA, TMPRSS6, TNXB, TPO, TRAP1, TRBV5-4, TSHZ2, TSHZ3, TTN, TUBB8, TULP1, UBE2I, UGT1A3, UNC93B1, UNKL, UPB1, UQCRB, VCX2, ZAN, ZC3HAV1, ZNF365, ZNF709, ZNF717, ZNF791, ZNRF1,

Genes at Omim

ACAN, AIRE, ALG12, ALG8, ALS2, AQP7, ARID1B, AXIN2, BAAT, BSND, BTNL2, CACNA1A, CACNB2, CCDC8, CD96, CDH3, CDHR1, CDSN, CHRNA3, CLEC4M, COL17A1, COL18A1, CYP2A6, DHCR7, DRD4, DSG4, DST, EDAR, FLVCR2, FMN2, FMO3, FOXE1, FREM2, FTCD, FYCO1, GABRD, GCSH, GRIN2B, HERC2, HLA-C, HLA-DQA1, HLA-DQB1, HLA-DRB1, HNF1A, HPS6, HSD3B7, HYDIN, IGF1R, IGHG2, IL17RA, INF2, INVS, IRF2BPL, KERA, KMT2C, KMT2D, KRT3, KRT6B, LRP8, MAN1B1, MSH3, MUC5B, MUC7, MYH14, MYH3, MYH6, MYLK, MYPN, NCF4, NDUFA11, NDUFS3, NEFH, NEUROD1, NOBOX, NOD2, OFD1, OPTN, PCNT, PDZD7, PIKFYVE, PITX2, PML, PRG4, PROKR2, RFX6, RIMS1, RNF213, SCARB1, SCNN1A, SH3BP2, SLC52A1, SOX10, SOX9, SYNGAP1, TBX4, TMPRSS6, TNXB, TPO, TTN, TUBB8, TULP1, UNC93B1, UPB1, UQCRB, ZNF365,
ACAN ?Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800 (3)
Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (3)
AIRE Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (3)
ALG12 Congenital disorder of glycosylation, type Ig, 607143 (3)
ALG8 Congenital disorder of glycosylation, type Ih, 608104 (3)
Polycystic liver disease 3 with or without kidney cysts, 617874 (3)
ALS2 Amyotrophic lateral sclerosis 2, juvenile, 205100 (3)
Primary lateral sclerosis, juvenile, 606353 (3)
Spastic paralysis, infantile onset ascending, 607225 (3)
AQP7 [Glycerol quantitative trait locus], 614411 (3)
ARID1B Coffin-Siris syndrome 1, 135900 (3)
AXIN2 Colorectal cancer, somatic, 114500 (3)
Oligodontia-colorectal cancer syndrome, 608615 (3)
BAAT Hypercholanemia, familial, 607748 (3)
BSND Bartter syndrome, type 4a, 602522 (3)
Sensorineural deafness with mild renal dysfunction, 602522 (3)
BTNL2 {Sarcoidosis, susceptibility to, 2}, 612387 (3)
CACNA1A Epileptic encephalopathy, early infantile, 42, 617106 (3)
Episodic ataxia, type 2, 108500 (3)
Migraine, familial hemiplegic, 1, 141500 (3)
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)
Spinocerebellar ataxia 6, 183086 (3)
CACNB2 Brugada syndrome 4, 611876 (3)
CCDC8 3-M syndrome 3, 614205 (3)
CD96 C syndrome, 211750 (3)
CDH3 Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 (3)
Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3)
CDHR1 Cone-rod dystrophy 15, 613660 (3)
Retinitis pigmentosa 65, 613660 (3)
CDSN Hypotrichosis 2, 146520 (3)
Peeling skin syndrome 1, 270300 (3)
CHRNA3 {Lung cancer susceptibility 2}, 612052 (3)
CLEC4M SARS infection, protection against (2)
COL17A1 Epidermolysis bullosa, junctional, localisata variant, 226650 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Epithelial recurrent erosion dystrophy, 122400 (3)
COL18A1 Knobloch syndrome, type 1, 267750 (3)
CYP2A6 {Lung cancer, resistance to}, 211980 (3)
Coumarin resistance, 122700 (3)
{Nicotine addiction, protection from}, 188890 (3)
DHCR7 Smith-Lemli-Opitz syndrome, 270400 (3)
DRD4 Autonomic nervous system dysfunction (3)
[Novelty seeking personality], 601696 (1)
{Attention deficit-hyperactivity disorder}, 143465 (3)
DSG4 Hypotrichosis 6, 607903 (3)
DST Epidermolysis bullosa simplex, autosomal recessive 2, 615425 (3)
?Neuropathy, hereditary sensory and autonomic, type VI, 614653 (3)
EDAR Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490 (3)
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3)
[Hair morphology 1, hair thickness], 612630 (3)
FLVCR2 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, 225790 (3)
FMN2 Mental retardation, autosomal recessive 47, 616193 (3)
FMO3 Trimethylaminuria, 602079 (3)
FOXE1 Bamforth-Lazarus syndrome, 241850 (3)
{Thyroid cancer, nonmedullary, 4}, 616534 (3)
FREM2 Fraser syndrome 2, 617666 (3)
FTCD Glutamate formiminotransferase deficiency, 229100 (3)
FYCO1 Cataract 18, autosomal recessive, 610019 (3)
GABRD {Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to}, 613060 (3)
{Epilepsy, idiopathic generalized, 10}, 613060 (3)
{Epilepsy, juvenile myoclonic, susceptibility to}, 613060 (3)
GCSH ?Glycine encephalopathy, 605899 (3)
GRIN2B Epileptic encephalopathy, early infantile, 27, 616139 (3)
Mental retardation, autosomal dominant 6, 613970 (3)
HERC2 Mental retardation, autosomal recessive 38, 615516 (3)
[Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3)
[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)
HLA-C {HIV-1 viremia, susceptibility to}, 609423 (3)
{Psoriasis susceptibility 1}, 177900 (3)
HLA-DQA1 {Celiac disease, susceptibility to}, 212750 (3)
HLA-DQB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Celiac disease, susceptibility to}, 212750 (3)
{Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3)
HLA-DRB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Sarcoidosis, susceptibility to, 1}, 181000 (3)
HNF1A Hepatic adenoma, somatic, 142330 (3)
Diabetes mellitus, insulin-dependent, 20, 612520 (3)
MODY, type III, 600496 (3)
Renal cell carcinoma, 144700 (3)
{Diabetes mellitus, insulin-dependent}, 222100 (3)
{Diabetes mellitus, noninsulin-dependent, 2}, 125853 (3)
HPS6 Hermansky-Pudlak syndrome 6, 614075 (3)
HSD3B7 Bile acid synthesis defect, congenital, 1, 607765 (3)
HYDIN Ciliary dyskinesia, primary, 5, 608647 (3)
IGF1R Insulin-like growth factor I, resistance to, 270450 (3)
IGHG2 IgG2 deficiency, selective (3)
IL17RA Immunodeficiency 51, 613953 (3)
INF2 Glomerulosclerosis, focal segmental, 5, 613237 (3)
Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3)
INVS Nephronophthisis 2, infantile, 602088 (3)
IRF2BPL Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 (3)
KERA Cornea plana 2, autosomal recessive, 217300 (3)
KMT2C Kleefstra syndrome 2, 617768 (3)
KMT2D Kabuki syndrome 1, 147920 (3)
KRT3 Meesmann corneal dystrophy, 122100 (3)
KRT6B Pachyonychia congenita 4, 615728 (3)
LRP8 {Myocardial infarction, susceptibility to}, 608446 (3)
MAN1B1 Mental retardation, autosomal recessive 15, 614202 (3)
MSH3 Familial adenomatous polyposis 4, 617100 (3)
Endometrial carcinoma, somatic, 608089 (3)
MUC5B {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)
MUC7 {Asthma, protection against}, 600807 (3)
MYH14 Deafness, autosomal dominant 4A, 600652 (3)
?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 (3)
MYH3 Arthrogryposis, distal, type 2A, 193700 (3)
Arthrogryposis, distal, type 2B, 601680 (3)
Arthrogryposis, distal, type 8, 178110 (3)
MYH6 Atrial septal defect 3, 614089 (3)
Cardiomyopathy, dilated, 1EE, 613252 (3)
Cardiomyopathy, hypertrophic, 14, 613251 (3)
{Sick sinus syndrome 3}, 614090 (3)
MYLK Aortic aneurysm, familial thoracic 7, 613780 (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)
NCF4 ?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 (3)
NDUFA11 Mitochondrial complex I deficiency, nuclear type 14, 618236 (3)
NDUFS3 Mitochondrial complex I deficiency, nuclear type 8, 618230 (3)
NEFH Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3)
?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
NEUROD1 Maturity-onset diabetes of the young 6, 606394 (3)
{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
NOBOX Premature ovarian failure 5, 611548 (3)
NOD2 Blau syndrome, 186580 (3)
{Inflammatory bowel disease 1, Crohn disease}, 266600 (3)
{Psoriatic arthritis, susceptibility to}, 607507 (2)
{Yao syndrome}, 617321 (3)
OFD1 Joubert syndrome 10, 300804 (3)
Orofaciodigital syndrome I, 311200 (3)
?Retinitis pigmentosa 23, 300424 (3)
Simpson-Golabi-Behmel syndrome, type 2, 300209 (3)
OPTN {Glaucoma, normal tension, susceptibility to}, 606657 (3)
Amyotrophic lateral sclerosis 12, 613435 (3)
Glaucoma 1, open angle, E, 137760 (3)
PCNT Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (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)
PIKFYVE Corneal fleck dystrophy, 121850 (3)
PITX2 Anterior segment dysgenesis 4, 137600 (3)
Axenfeld-Rieger syndrome, type 1, 180500 (3)
Ring dermoid of cornea, 180550 (3)
PML Leukemia, acute promyelocytic, PML/RARA type (3)
PRG4 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3)
PROKR2 Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 (3)
RFX6 Mitchell-Riley syndrome, 615710 (3)
RIMS1 Cone-rod dystrophy 7, 603649 (3)
RNF213 {Moyamoya disease 2, susceptibility to}, 607151 (3)
SCARB1 [High density lipoprotein cholesterol level QTL6], 610762 (3)
SCNN1A Bronchiectasis with or without elevated sweat chloride 2, 613021 (3)
?Liddle syndrome 3, 618126 (3)
Pseudohypoaldosteronism, type I, 264350 (3)
SH3BP2 Cherubism, 118400 (3)
SLC52A1 Riboflavin deficiency, 615026 (3)
SOX10 PCWH syndrome, 609136 (3)
Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 (3)
Waardenburg syndrome, type 4C, 613266 (3)
SOX9 Campomelic dysplasia with autosomal sex reversal, 114290 (3)
Campomelic dysplasia, 114290 (3)
Acampomelic campomelic dysplasia, 114290 (3)
SYNGAP1 Mental retardation, autosomal dominant 5, 612621 (3)
TBX4 Ischiocoxopodopatellar syndrome, 147891 (3)
TMPRSS6 Iron-refractory iron deficiency anemia, 206200 (3)
TNXB Ehlers-Danlos syndrome, classic-like, 1 606408 (3)
Vesicoureteral reflux 8, 615963 (3)
TPO Thyroid dyshormonogenesis 2A, 274500 (3)
TTN Cardiomyopathy, dilated, 1G, 604145 (3)
Cardiomyopathy, familial hypertrophic, 9, 613765 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807 (3)
Myopathy, proximal, with early respiratory muscle involvement, 603689 (3)
Salih myopathy, 611705 (3)
Tibial muscular dystrophy, tardive, 600334 (3)
TUBB8 Oocyte maturation defect 2, 616780 (3)
TULP1 Leber congenital amaurosis 15, 613843 (3)
Retinitis pigmentosa 14, 600132 (3)
UNC93B1 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 (3)
UPB1 Beta-ureidopropionase deficiency, 613161 (3)
UQCRB Mitochondrial complex III deficiency, nuclear type 3, 615158 (3)
ZNF365 {Nephrolithiasis, uric acid, susceptibility to}, 605990 (3)

Genes at Clinical Genomics Database

ACAN, AIRE, ALG12, ALG8, ALS2, ARID1B, AXIN2, BAAT, BLM, BSND, CACNA1A, CACNB2, CCDC8, CD96, CDH3, CDHR1, CDSN, COL17A1, COL18A1, CYP2A6, DHCR7, DSG4, DST, EDAR, FLVCR2, FMN2, FMO3, FOXE1, FREM2, FTCD, FYCO1, GCSH, GRIN2B, HERC2, HNF1A, HPS6, HSD3B7, HSPA1L, IGF1R, IL17RA, INF2, INVS, KERA, KIRREL3, KMT2D, KRT3, KRT6B, MAN1B1, MSH3, MYH14, MYH3, MYH6, MYLK, MYPN, NCF4, NDUFA11, NDUFS3, NEFH, NEUROD1, NOBOX, NOD2, OFD1, OPTN, PCNT, PDZD7, PIKFYVE, PITX2, PRG4, PROKR2, RFX6, RIMS1, RNF213, SCNN1A, SH3BP2, SLC52A1, SOX10, SOX9, SYNGAP1, TBX4, TMPRSS6, TNXB, TPO, TRAP1, TTN, TUBB8, TULP1, UNC93B1, UPB1, UQCRB,
ACAN Spondyloepimetaphyseal dysplasia, aggrecan type
Spondyloepiphyseal dysplasia, Kimberley type
Osteochondritis dissecans, short stature, and early-onset osteoarthritis
AIRE Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
ALG12 Congenital disorder of glycosylation, type Ig
ALG8 Congenital disorder of glycosylation, type Ih
ALS2 Spastic paralysis, infantile onset ascending
Primary lateral sclerosis, juvenile
Amyotrophic lateral sclerosis 2
ARID1B Mental retardation, autosomal dominant, 12
Coffin-Siris syndrome 1
AXIN2 Oligodontia-colorectal cancer syndrome
BAAT Hypercholanemia, familial
BLM Bloom syndrome
BSND Bartter syndrome, type 4A
Sensorineural deafness with mild renal dysfunction
CACNA1A Episodic ataxia, type 2
Migraine, familial hemiplegic 1
CACNB2 Brugada syndrome 4
CCDC8 Three M syndrome 3
CD96 C syndrome( Opitz Trigonocephaly syndrome)
CDH3 Hypotrichosis, congenital, with juvenile macular dystrophy
Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
CDHR1 Cone-rod dystrophy 15
Retinitis pigmentosa 65
CDSN Hypotrichosis 2
Peeling skin syndrome 1
COL17A1 Epithelial recurrent erosion dystrophy (ERED)
Epidermolysis bullosa, junctional, non-Herlitz type
COL18A1 Knobloch syndrome 1
CYP2A6 CYP2A6-related drug metabolism
DHCR7 Smith-Lemli-Opitz syndrome
DSG4 Hypotrichosis 6
DST Neuropathy, hereditary sensory and autonomic, type VI
EDAR Ectodermal dysplasia, anhidrotic, autosomal dominant
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
Hair morphology 1
FLVCR2 Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome
FMN2 Mental retardation, autosomal recessive, 47
FMO3 Trimethylaminuria
FOXE1 Thyroid cancer, nonmedullary 4
Hypothyroidism, thyroidal, with spiky hair and cleft palate (Bamforth-Lazarus syndrome)
Congenital hypothyroidism
FREM2 Fraser syndrome
FTCD Glutamate formiminotransferase deficiency
FYCO1 Cataract, autosomal recessive congenital 2
GCSH Glycine encephalopathy
GRIN2B Mental retardation, autosomal dominant 6
Epileptic encephalopathy, early infantile 27
HERC2 Skin/hair/eye pigmentation 1
Mental retardation, autosomal recessive 38
HNF1A Renal cell carcinoma, nonpapillary clear cell
Liver adenomatosis
Maturity onset diabetes of the young, type III
HPS6 Hermansky-Pudlak syndrome 6
HSD3B7 Bile acid synthesis defect, congenital, 1
HSPA1L Abacavir, susceptibility to toxicity with
IGF1R Insulin-like growth factor I, resistance to
IL17RA Candiasis, familial, 5
INF2 Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease, dominant intermediate E
INVS Nephronophthisis 2
KERA Cornea plana 2, autosomal recessive
KIRREL3 Mental retardation, autosomal dominant 4
KMT2D Kabuki syndrome 1
KRT3 Meesmann corneal dystrophy
KRT6B Pachyonychia congenita 4
MAN1B1 Mental retardation, autosomal recessive 15
MSH3 Endometrial carcinoma
MYH14 Deafness, autosomal dominant 4
Deafness, autosomal dominant 4B
Peripheral neuropathy, myopathy, hoarseness, and hearing loss
MYH3 Arthrogryposis, distal, type 2A
Arthyrgryposis, distal, type 2B
Arthrogryposis, distal, type 8
MYH6 Cardiomyopathy, dilated, 1EE
Cardiomyopathy, familial hypertrophic 14
MYLK Aortic aneurysm, familial thoracic 7
MYPN Cardiomyopathy, dilated, 1KK
Cardiomyopathy, familial hypertrophic, 22
Cardiomyopathy, familial restrictive, 4
NCF4 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
NDUFA11 Mitochondrial complex I deficiency
NDUFS3 Mitochondrial complex I deficiency
Leigh syndrome
NEFH Charcot-Marie-Tooth disease, axonal, type 2CC
NEUROD1 Maturity onset diabetes of the young 6
NOBOX Premature ovarian failure 5
NOD2 Blau syndrome
Sarcoidosis, early-onset
OFD1 Orofaciodigital syndrome 1
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Retinitis pigmentosa 23
OPTN Glaucoma, normal tension, susceptibility to
Glaucoma 1, open angle, E
PCNT Microcephalic osteodysplastic primordial dwarfism, type II
PDZD7 Usher syndrome, type IIC
PIKFYVE Corneal fleck dystrophy
PITX2 Axenfeld-Rieger syndrome, type 1
Peters anomaly
Ring dermoid of cornea
Iridogoniodysgenesis, type 2
PRG4 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
PROKR2 Hypogonadotropic hypogonadism 3 with or without anosmia
RFX6 Pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula
Martinez-Frias syndrome
Mitchell-Riley syndrome
RIMS1 Cone-rod dystrophy 7
RNF213 Moyamoya disease 2
SCNN1A Pseudohypoaldosteronism, type I
Bronchiectasis with or without elevated sweat chloride 2
SH3BP2 Cherubism
SLC52A1 Maternal riboflavin deficiency
SOX10 Waardenburg syndrome, type 4C
Waardenburg syndrome, type 2E
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
Hirschsprung disease, susceptibility to, 10
SOX9 46, XY sex reversal 10
Campomelic dysplasia
SYNGAP1 Mental retardation, autosomal dominant 5
TBX4 Small patella syndrome
TMPRSS6 Iron-refractory iron deficiency anemia
TNXB Vesicoureteral reflux 8
Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency
TPO Thyroid dyshormonogenesis 2A
TRAP1 Congenital abnormalities of the kidney and urinary tract
VACTERL association
TTN Cardiomyopathy, familial hypertrophic 9
Cardiomyopathy, dilated, 1G
TUBB8 Oocyte maturation defect 2
TULP1 Leber congenital amaurosis 15
Retinitis pigmentosa 14
UNC93B1 Herpes simplex encephalitis, susceptibility to, 1
UPB1 Beta-ureidopropionase deficiency
UQCRB Mitochondrial complex III deficiency

Genes at HGMD

Summary

Number of Variants: 938
Number of Genes: 218

Export to: CSV

ABCA2

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 13ac00301-2_s1 genome 9 . 139905015 104.43 A C SB 0/1 24 None None None None None None None None None ABCA2|0.074227496|56.47%

ACAN

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 13ac00301-2_s1 genome 15 rs767359801
dbSNP Clinvar
89398729 149.77 A G SB 0/1 47 SYNONYMOUS_CODING LOW None None None None None None None ACAN|0.017538305|75.58%
View 13ac00301-2_s1 genome 15 rs3743399
dbSNP Clinvar
89398330 174.05 G A SB 0/1 10 SYNONYMOUS_CODING LOW None 0.00040 0.75900 0.13242 None None None None None None ACAN|0.017538305|75.58%
View 13ac00301-2_s1 genome 15 rs938608
dbSNP Clinvar
89398605 316.62 G T SB 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.45268 0.45270 0.40313 0.01 0.84 None None None None None None ACAN|0.017538305|75.58%

AIRE

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 13ac00301-2_s1 genome 21 rs528762050
dbSNP Clinvar
45714364 63.87 G A SB 0/1 17 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 0.59 0.00 None None None None None None AIRE|0.006628229|83.92%

AKAP13

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 15 rs7179919
dbSNP Clinvar
86125304 36.6 C T SB 0/1 4 SYNONYMOUS_CODING LOW None 0.19229 0.19230 0.12610 None None None None None None AKAP13|0.042148693|65.04%

ALG12

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 22 rs1321
dbSNP Clinvar
50297435 230.23 T C SB 0/1 31 None None None 0.40216 0.40220 0.38093 0.00 None None None None None None ALG12|0.005312033|85.41%

ALG8

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 11 rs640016
dbSNP Clinvar
77813941 304.59 T C SB 0/1 30 None None None 0.26038 0.26040 None None None None None None ALG8|0.271828489|29.77%

ALS2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 2 rs3219156
dbSNP Clinvar
202625615 1149.82 C T SB 1/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.89657 0.89660 0.13855 0.15 0.00 None None None None None None ALS2|0.517655143|15.08%

ANAPC1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 2 rs2249027
dbSNP Clinvar
112551673 350.95 G A SB 0/1 75 SYNONYMOUS_CODING LOW None None None None None None None ANAPC1|0.14646446|43.53%

AP000350.4

Omim - GeneCards - NCBI
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 22 rs2070767
dbSNP Clinvar
24237463 269.19 T C SB 0/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.77197 0.77200 0.00 None None None None None None None

AQP7

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 9 rs114484742
dbSNP Clinvar
33385750 248.85 C T SB 0/1 75 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.71 None None None None None None AQP7|0.012677613|78.76%
View 13ac00301-2_s1 genome 9 rs114937176
dbSNP Clinvar
33385784 551.74 C G SB 0/1 103 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.20 None None None None None None AQP7|0.012677613|78.76%

ARID1B

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 6 . 157099356 33.59 A C SB 0/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None ARID1B|0.540737445|14.17%

ATF5

Omim - GeneCards - NCBI
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Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 19 rs283526
dbSNP Clinvar
50435862 589.66 C T SB 1/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.66853 0.66850 0.35644 0.46 0.00 None None None None None None ATF5|0.036517544|66.96%

ATP10A

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 15 rs3743438
dbSNP Clinvar
25933094 201.32 C T SB 0/1 11 None None None 0.11921 0.11920 0.18 0.00 None None None None None None ATP10A|0.032097365|68.57%

ATP1A4

Omim - GeneCards - NCBI
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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 13ac00301-2_s1 genome 1 rs7529215
dbSNP Clinvar
160136350 118.08 G A SB 0/1 22 SYNONYMOUS_CODING LOW None 0.46825 0.46830 0.48762 2.98 0.10 0.77623 D None None None None ATP1A4|0.060045648|59.84%

AXIN2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 17 rs2240308
dbSNP Clinvar
63554591 500.08 G A SB 1/1 15 NON_SYNONYMOUS_CODING MODERATE None 0.33766 0.33770 0.39482 0.31 0.02 None None None None None None AXIN2|0.837375797|4.92%

BAAT

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 9 rs1572983
dbSNP Clinvar
104133628 388.51 C T SB 1/1 13 NON_SYNONYMOUS_CODING MODERATE None 0.56290 0.56290 0.36860 0.44 0.02 None None None None None None BAAT|0.006993319|83.49%

BLM

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 15 rs763649657
dbSNP Clinvar
91303325 81.47 C CT SB 0/1 28 None None None None None None None None None BLM|0.189946543|37.81%

BSND

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 1 rs33938617
dbSNP Clinvar
55474262 237.84 G A SB 0/1 27 SYNONYMOUS_CODING LOW None 0.11601 0.11600 0.19968 None None None None None None BSND|0.012671316|78.77%

BTNL2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 6 rs59129682
dbSNP Clinvar
32370908 671.17 T A SB 0/1 38 SYNONYMOUS_CODING LOW None 0.13419 0.13420 0.09094 None None None None None None BTNL2|0.00846386|82.19%

CACNA1A

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 19 rs16027
dbSNP Clinvar
13397560 1056.03 C T SB 0/1 103 NON_SYNONYMOUS_CODING MODERATE None 0.10044 0.10040 0.07390 0.94 None None None None None None CACNA1A|0.210424701|35.52%

CACNB2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 10 rs58225473
dbSNP Clinvar
18828635 63.7 T G SB 0/1 10 NON_SYNONYMOUS_CODING MODERATE None 0.09704 0.09704 0.15159 0.06 0.01 None None None None None None CACNB2|0.445418011|18.41%

CBR1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 21 rs1005696
dbSNP Clinvar
37443480 89.41 T G SB 0/1 11 None None None 0.59685 0.59680 0.71 0.00 None None None None None None SETD4|0.031167746|68.91%,CBR1|0.018056419|75.24%

CCDC8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 19 . 46915865 54.67 T G SB 0/1 13 NON_SYNONYMOUS_CODING MODERATE None 0.99 None None None None None None CCDC8|0.002358405|90.02%

CD96

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 3 rs9831496
dbSNP Clinvar
111298145 396.3 A G SB 0/1 27 None None None 0.13918 0.13920 0.00 None None None None None None CD96|0.020251644|74.04%

CDH3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 16 rs3114409
dbSNP Clinvar
68732049 280.54 A C SB 0/1 21 None None None 0.22863 0.22860 0.23197 0.00 None None None None None None CDH3|0.072383373|56.91%

CDHR1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 10 rs3814213
dbSNP Clinvar
85974236 604.33 T C SB 0/1 47 SYNONYMOUS_CODING LOW None 0.57368 0.57370 0.39513 None None None None None None CDHR1|0.082182972|54.74%

CDSN

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 6 rs3130981
dbSNP Clinvar
31083813 217.49 T C SB 0/1 16 NON_SYNONYMOUS_CODING MODERATE None 0.83367 0.83370 0.20065 1.00 0.00 None None None None None None PSORS1C1|0.000682448|97.36%,CDSN|0.07799088|55.67%

CHRNA3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 15 rs1051730
dbSNP Clinvar
78894339 319.28 G A SB 0/1 24 SYNONYMOUS_CODING LOW None 0.16813 0.16810 0.27192 None None None None None None CHRNA3|0.230381335|33.33%

CLEC4M

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 19 rs59003279
dbSNP Clinvar
7830936 148.96 G C SB 0/1 74 SYNONYMOUS_CODING LOW None 0.02177 0.02177 None None None None None None CLEC4M|0.000869781|96.24%

CLPTM1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 19 rs9193
dbSNP Clinvar
45496303 350.6 T C SB 1/1 11 None None None 0.87260 0.87260 0.10868 0.00 0.00 None None None None None None CLPTM1|0.232022949|33.2%

CNOT4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 7 rs6969632
dbSNP Clinvar
135047703 407.82 T C SB 1/1 13 SYNONYMOUS_CODING LOW None 0.98043 0.98040 0.01157 None None None None None None CNOT4|0.786535825|6.19%

COL17A1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 10 rs805698
dbSNP Clinvar
105816916 744.33 C T SB 1/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.81849 0.81850 0.15113 0.00 None None None None None None COL17A1|0.220252717|34.39%

COL18A1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 21 rs2236451
dbSNP Clinvar
46876083 49.92 A G SB 0/1 9 SYNONYMOUS_CODING LOW None 0.37560 0.37560 0.38293 None None None None None None COL18A1|0.045578537|64.02%

CSGALNACT1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 8 rs7017776
dbSNP Clinvar
19362768 457.22 C T SB 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.75479 0.75480 0.25780 0.91 0.01 None None None None None None CSGALNACT1|0.134495825|45.18%

CTBP2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 10 rs796720401
dbSNP Clinvar
126686692 36.6 C T SB 0/1 6 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.59 None None None None None None CTBP2|0.585435328|12.33%
View 13ac00301-2_s1 genome 10 rs75044667
dbSNP Clinvar
126686724 39.61 T C SB 0/1 5 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.60 None None None None None None CTBP2|0.585435328|12.33%
View 13ac00301-2_s1 genome 10 rs1016903303
dbSNP Clinvar
126686619 39.61 G T SB 0/1 7 NON_SYNONYMOUS_CODING MODERATE None 0.13 0.03 None None None None None None CTBP2|0.585435328|12.33%
View 13ac00301-2_s1 genome 10 rs74442958
dbSNP Clinvar
126686605 36.6 C T SB 0/1 5 NON_SYNONYMOUS_CODING MODERATE None 0.00008 0.03 0.99 None None None None None None CTBP2|0.585435328|12.33%
View 13ac00301-2_s1 genome 10 rs76229685
dbSNP Clinvar
126686672 36.6 G A SB 0/1 6 SYNONYMOUS_CODING LOW None None None None None None None CTBP2|0.585435328|12.33%

CYP2A6

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 19 rs199515342
dbSNP Clinvar
41355876 206.97 G A SB 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.00319 0.00320 0.01 None None None None None None CYP2A6|0.439107836|18.72%
View 13ac00301-2_s1 genome 19 rs200554095
dbSNP Clinvar
41355885 137.02 T A SB 0/1 46 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.33 None None None None None None CYP2A6|0.439107836|18.72%

DHCR7

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 11 rs1792268
dbSNP Clinvar
71146952 708.71 G A SB 1/1 21 None None None 0.73682 0.73680 0.07 0.00 None None None None None None DHCR7|0.081765547|54.8%
View 13ac00301-2_s1 genome 11 rs140748737
dbSNP Clinvar
71155265 425.03 C T SB 0/1 32 None None None 0.00739 0.00739 0.01033 0.17 0.00 None None None None None None DHCR7|0.081765547|54.8%

DLGAP3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 1 rs758215471
dbSNP Clinvar
35334404 424.26 T G SB 0/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.19 0.96 None None None None None None DLGAP3|0.352706699|23.91%

DRD4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 11 rs745991309
dbSNP Clinvar
640104 39.61 C T SB 0/1 5 SYNONYMOUS_CODING LOW None None None None None None None DRD4|0.015467826|76.84%

DSG4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 18 rs7234288
dbSNP Clinvar
28993501 507.85 C A SB 1/1 15 SYNONYMOUS_CODING LOW None 0.74321 0.74320 0.27807 None None None None None None DSG4|0.119999576|47.44%
View 13ac00301-2_s1 genome 18 rs4799570
dbSNP Clinvar
28986333 316.09 A C SB 0/1 13 NON_SYNONYMOUS_CODING MODERATE None 0.96586 0.96590 0.07566 1.00 0.00 None None None None None None DSG4|0.119999576|47.44%

DST

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 6 rs11756977
dbSNP Clinvar
56420538 369.58 C T SB 0/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.33546 0.33550 0.31166 0.00 None None None None None None DST|0.807318345|5.62%

EDAR

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 2 rs12623957
dbSNP Clinvar
109513654 584.2 G A SB 0/1 31 SYNONYMOUS_CODING LOW None 0.71186 0.71190 0.30071 None None None None None None EDAR|0.092463645|52.73%

EGFL7

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 13ac00301-2_s1 genome 9 rs2297538
dbSNP Clinvar
139564668 66.71 G A SB 0/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.16833 0.16830 0.20993 0.43 0.04 None None None None None None EGFL7|0.015694127|76.65%

EXO1

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 13ac00301-2_s1 genome 1 rs1776148
dbSNP Clinvar
242042545 205.43 A G SB 0/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.68191 0.68190 0.34500 0.41 0.00 None None None None None None EXO1|0.567140153|13.1%

FAM120AOS

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 13ac00301-2_s1 genome 9 rs1055710
dbSNP Clinvar
96214928 33.59 G A SB 0/1 5 NON_SYNONYMOUS_CODING MODERATE None 0.28974 0.28970 0.27386 0.00 0.00 None None None None None None FAM120AOS|0.000936976|95.86%,FAM120A|0.31049373|26.8%

FLVCR2

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 13ac00301-2_s1 genome 14 rs2287016
dbSNP Clinvar
76045858 33.59 G A SB 0/1 5 SYNONYMOUS_CODING LOW None 0.47344 0.47340 0.37352 None None None None None None FLVCR2|0.124944666|46.63%
View 13ac00301-2_s1 genome 14 rs2287015
dbSNP Clinvar
76045362 39.61 T C SB 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.47384 0.47380 0.37298 1.00 0.00 None None None None None None FLVCR2|0.124944666|46.63%

FMN2

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 13ac00301-2_s1 genome 1 rs140531536,rs71929261
dbSNP Clinvar
240255568 1762.59 GGGC G SB 1/1 50 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.70667 0.70670 None None None None None None FMN2|0.565952775|13.15%

FMO3

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 13ac00301-2_s1 genome 1 rs909530
dbSNP Clinvar
171083174 369.56 C T SB 0/1 27 SYNONYMOUS_CODING LOW None 0.33367 0.33370 0.30747 None None None None None None FMO3|0.026513666|71.11%

FOXD4

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 13ac00301-2_s1 genome 9 rs79220013
dbSNP Clinvar
116800 677.98 C G SB 0/1 75 STOP_LOST HIGH None 0.20310 0.03 None None None None None None None
View 13ac00301-2_s1 genome 9 rs4742632
dbSNP Clinvar
116832 617.42 T C SB 0/1 94 NON_SYNONYMOUS_CODING MODERATE None 0.23559 0.05 0.00 -0.97 None None None None None None None

FOXD4L6

Omim - GeneCards - NCBI
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Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 9 rs2989709
dbSNP Clinvar
69200366 432.06 G C SB 0/1 175 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None FOXD4L6|0.00355914|87.68%

FOXE1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 9 rs3021526
dbSNP Clinvar
100617021 339.26 C T SB 0/1 22 SYNONYMOUS_CODING LOW None 0.68610 0.68610 None None None None None None FOXE1|0.190679781|37.73%

FREM2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 13 rs1868463
dbSNP Clinvar
39266484 258.35 G A SB 0/1 15 NON_SYNONYMOUS_CODING MODERATE None 0.12121 0.12120 0.04829 0.00 0.84 None None None None None None FREM2|0.138477767|44.62%

FRG1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 4 rs868258562
dbSNP Clinvar
190862169 315.72 C T SB 0/1 126 NON_SYNONYMOUS_CODING MODERATE None 0.09 0.48 None None None None None None FRG1|0.098149242|51.5%
View 13ac00301-2_s1 genome 4 rs75403683
dbSNP Clinvar
190862179 837.15 C T SB 0/1 150 SYNONYMOUS_CODING LOW None None None None None None None FRG1|0.098149242|51.5%
View 13ac00301-2_s1 genome 4 rs73024914
dbSNP Clinvar
190862200 744.91 C T SB 0/1 208 SYNONYMOUS_CODING LOW None 0.00020 0.00020 None None None None None None FRG1|0.098149242|51.5%

FRG1B

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 20 rs74684310
dbSNP Clinvar
29624068 652.1 T C SB 0/1 176 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None FRG1B|0.009509512|81.26%

FTCD

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 21 rs1047209
dbSNP Clinvar
47556809 145.19 C T SB 0/1 17 None None None 0.15855 0.15850 None None None None None None FTCD|0.026135815|71.26%
View 13ac00301-2_s1 genome 21 rs12774
dbSNP Clinvar
47556793 158.66 C T SB 0/1 13 None None None 0.55192 0.55190 0.00 None None None None None None FTCD|0.026135815|71.26%

FYCO1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 3 rs41289618
dbSNP Clinvar
45999910 256.92 T C SB 0/1 20 SYNONYMOUS_CODING LOW None 0.01358 0.01358 0.02530 None None None None None None FYCO1|0.053934949|61.49%

GABRD

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 1 rs28408173
dbSNP Clinvar
1960674 443.27 C T SB 0/1 44 SYNONYMOUS_CODING LOW None 0.19828 0.19830 0.09776 None None None None None None GABRD|0.062141184|59.29%

GCSH

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 16 rs8052579
dbSNP Clinvar
81129822 218.13 G A SB 0/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.72264 0.72260 0.26 0.00 None None None None None None GCSH|0.200287354|36.73%

GRIN2B

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 12 rs1805246
dbSNP Clinvar
13715954 92.09 G A SB 0/1 21 SYNONYMOUS_CODING LOW None 0.03674 0.03674 0.02783 None None None None None None GRIN2B|0.628804111|10.82%

GRIN3A

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 9 rs1337677
dbSNP Clinvar
104499575 263.3 T C SB 0/1 23 SYNONYMOUS_CODING LOW None 0.82728 0.82730 0.08273 None None None None None None GRIN3A|0.458861927|17.75%

GRM2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 3 rs61729078
dbSNP Clinvar
51749874 36.6 C T SB 0/1 4 SYNONYMOUS_CODING LOW None 0.01258 0.01258 0.01930 None None None None None None GRM2|0.283816283|28.82%

GSTM4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 1 rs75484590
dbSNP Clinvar
110201860 175.64 C A SB 0/1 22 None None None 0.03375 0.03375 0.20 0.02 None None None None None None GSTM4|0.014282259|77.63%

GSTT2B

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 22 rs2227965
dbSNP Clinvar
24300634 511.69 G T SB 0/1 188 SYNONYMOUS_CODING LOW None 0.85024 0.85020 None None None None None None GSTT2B|0.001863137|91.37%

HERC2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 15 rs201990459
dbSNP Clinvar
28566548 114.78 T C SB 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None HERC2|0.10570597|50.1%
View 13ac00301-2_s1 genome 15 rs77399744
dbSNP Clinvar
28517492 506.61 C A SB 0/1 196 NON_SYNONYMOUS_CODING MODERATE None 0.34 None None None None None None HERC2|0.10570597|50.1%

HLA-C

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 6 rs1131014
dbSNP Clinvar
31238009 248.42 T C SB 0/1 31 SYNONYMOUS_CODING LOW None 0.51138 0.51140 None None None None None None HLA-C|0.028815016|70%
View 13ac00301-2_s1 genome 6 rs41550715
dbSNP Clinvar
31238992 779.24 G C SB 0/1 284 SYNONYMOUS_CODING LOW None 0.02476 0.02476 None None None None None None HLA-C|0.028815016|70%
View 13ac00301-2_s1 genome 6 rs2308628
dbSNP Clinvar
31237991 308.83 G T SB 0/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.74960 0.74960 1.00 0.00 None None None None None None HLA-C|0.028815016|70%
View 13ac00301-2_s1 genome 6 rs1131015
dbSNP Clinvar
31238010 248.6 T G SB 0/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.72125 0.72120 1.00 0.00 None None None None None None HLA-C|0.028815016|70%

HLA-DQA1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 6 rs28371168
dbSNP Clinvar
32610751 36.6 A G SB 0/1 5 None None None 0.23942 0.23940 None None None None None None HLA-DQA1|0.015615991|76.72%
View 13ac00301-2_s1 genome 6 rs9272871
dbSNP Clinvar
32610747 60.34 G C SB 0/1 6 None None None 0.23942 0.23940 0.60 0.01 None None None None None None HLA-DQA1|0.015615991|76.72%
View 13ac00301-2_s1 genome 6 rs9272865
dbSNP Clinvar
32610736 89.39 G A SB 0/1 8 None None None 0.24960 0.24960 None None None None None None HLA-DQA1|0.015615991|76.72%
View 13ac00301-2_s1 genome 6 rs1142338
dbSNP Clinvar
32609322 57.68 C T SB 0/1 10 SYNONYMOUS_CODING LOW None 0.04932 0.04932 0.01707 None None None None None None HLA-DQA1|0.015615991|76.72%
View 13ac00301-2_s1 genome 6 rs1142326
dbSNP Clinvar
32609212 109.21 C T SB 0/1 7 NON_SYNONYMOUS_CODING MODERATE None 0.08866 0.08866 0.05 0.01 None None None None None None HLA-DQA1|0.015615991|76.72%
View 13ac00301-2_s1 genome 6 rs3207984
dbSNP Clinvar
32609214 33.42 G T SB 0/1 7 SYNONYMOUS_CODING LOW None 0.27057 0.27060 None None None None None None HLA-DQA1|0.015615991|76.72%
View 13ac00301-2_s1 genome 6 rs9272697
dbSNP Clinvar
32609223 69.72 G T SB 0/1 7 NON_SYNONYMOUS_CODING MODERATE None 0.26518 0.26520 0.06 0.01 None None None None None None HLA-DQA1|0.015615991|76.72%
View 13ac00301-2_s1 genome 6 rs9272698
dbSNP Clinvar
32609224 106.02 T C SB 0/1 7 NON_SYNONYMOUS_CODING MODERATE None 0.26518 0.26520 0.09 0.01 None None None None None None HLA-DQA1|0.015615991|76.72%
View 13ac00301-2_s1 genome 6 rs9272699
dbSNP Clinvar
32609229 109.21 C A SB 0/1 7 NON_SYNONYMOUS_CODING MODERATE None 0.26498 0.26500 0.03 0.02 None None None None None None HLA-DQA1|0.015615991|76.72%
View 13ac00301-2_s1 genome 6 rs1048052
dbSNP Clinvar
32609230 106.02 A C SB 0/1 7 NON_SYNONYMOUS_CODING MODERATE None 0.26498 0.26500 0.93 0.00 None None None None None None HLA-DQA1|0.015615991|76.72%

HLA-DQB1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 6 rs1130392
dbSNP Clinvar
32632628 146.79 G C SB 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.27516 0.27520 0.14883 0.16 0.03 None None None None None None HLA-DQB1|0.132406558|45.55%
View 13ac00301-2_s1 genome 6 rs1140321
dbSNP Clinvar
32632581 338.25 T G SB 1/1 17 SYNONYMOUS_CODING LOW None 0.43510 0.43510 None None None None None None HLA-DQB1|0.132406558|45.55%
View 13ac00301-2_s1 genome 6 rs1130391
dbSNP Clinvar
32632624 278.69 C T SB 0/1 33 SYNONYMOUS_CODING LOW None 0.06749 0.06749 0.01177 None None None None None None HLA-DQB1|0.132406558|45.55%
View 13ac00301-2_s1 genome 6 rs1130389
dbSNP Clinvar
32632627 327.04 C G SB 0/1 33 SYNONYMOUS_CODING LOW None 0.01094 None None None None None None HLA-DQB1|0.132406558|45.55%
View 13ac00301-2_s1 genome 6 rs9274386
dbSNP Clinvar
32632645 64.99 G T SB 0/1 27 SYNONYMOUS_CODING LOW None None None None None None None HLA-DQB1|0.132406558|45.55%
View 13ac00301-2_s1 genome 6 rs1130385
dbSNP Clinvar
32632638 245.4 C A SB 0/1 26 STOP_GAINED HIGH None 0.01036 None None None None None None HLA-DQB1|0.132406558|45.55%