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Genes:
AARS, AATF, AATK, ABAT, ABCA10, ABCA3, ABCA6, ABCA8, ABCC1, ABCC12, ABCC3, ABCC6, AC004381.6, ACACA, ACE, ACSF2, ACSM1, ACSM2B, ACSM5, ACTG1, ADAMTS18, AFG3L2, AFMID, AKAP1, ALDH3A1, ALG1, ALOXE3, ALPK2, ANKS3, AP1G1, APCDD1, AQP4, ARHGAP28, ARHGEF15, ARRB2, ARSG, ATMIN, ATP2A1, ATP2A3, ATP2C2, ATP9B, AZI1, B3GNTL1, BANP, BCAR1, BCL2, BCMO1, BRCA1, BRICD5, C16orf59, C16orf71, C16orf89, C17orf47, C17orf80, C18orf8, CA10, CACNA1H, CACNB1, CAMKK1, CAPN15, CAPNS2, CARD14, CARHSP1, CCDC144A, CCDC40, CCDC57, CCP110, CDH1, CDH11, CDH2, CDH3, CDH5, CDH7, CDK12, CDT1, CDYL2, CEP192, CES1, CFDP1, CHAD, CHD9, CHRNE, CIITA, CLEC10A, CLUH, CMTM1, CMTR2, CNDP1, CNOT1, CNTNAP1, CNTROB, COASY, COG4, COG8, COLEC12, COPS3, COX10, CRAMP1L, CSF3, CSHL1, CTC1, CTU2, CXCL16, CYB5A, CYB5B, DCAKD, DCC, DCTN5, DDX19A, DHX38, DLG4, DLGAP1, DNAAF1, DNAH17, DNAH2, DNAH3, DNAH9, DPH1, DSC1, DSG1, E4F1, EARS2, EEF2K, EFTUD2, EIF4A1, ELAC2, ELP2, ENOSF1, ENTHD2, EPB41L3, EPN3, EPX, EVI2A, EVPL, EXOC3L1, FA2H, FAHD1, FAM101B, FAM192A, FAM57B, FAM86A, FASN, FBXO39, FHOD3, FN3K, FNDC8, FSCN2, GAA, GAS8, GEMIN4, GFAP, GGT6, GID4, GINS2, GIT1, GOT2, GP2, GPATCH8, GPR142, GRIN2A, GSE1, GSG1L, GSPT1, HAP1, HEATR3, HELZ, HOXB1, HOXB13, HS3ST2, IFT140, IKZF3, IL17C, IST1, ITGAD, ITGAE, ITGAL, ITGAM, ITGAX, ITGB3, JPH3, KANSL1, KARS, KATNAL2, KCNG4, KCNH6, KCNJ12, KIAA0195, KIAA0556, KIAA0753, KIF18B, KIF19, KIF1C, KIF2B, KLHL11, KLHL36, KRT14, KRT16, KRT19, KRT23, KRT25, KRT28, KRT32, KRT35, KRT39, KRT9, KRTAP4-16P, KRTAP4-6, KRTAP4-9, KSR1, LAMA1, LAMA3, LAT, LLGL2, LMF1, MAP2K3, MAP2K6, MAPK8IP3, MC5R, MED24, MED9, MEFV, MEIOB, METRN, METRNL, MGAT5B, MMP2, MPPE1, MRO, MYH1, MYH10, MYH13, MYH2, MYH3, MYH4, MYH8, MYO5B, NAGS, NARFL, NDRG4, NFATC1, NFATC3, NFE2L1, NLGN2, NLK, NLRC5, NMT1, NOD2, NOL11, NOS2, NPC1, NPTX1, NQO1, NSF, NSRP1, NTAN1, NUBP2, NUFIP2, NUP85, NUPR1, ONECUT2, OR1D5, OR1E2, OR2C1, OSBPL1A, OSBPL7, OTOP3, P4HB, PCGF2, PDIA2, PDPR, PDXDC1, PER1, PHLPP2, PIEZO2, PIGQ, PITPNM3, PKD1, PKD1L2, PLCG2, PLD2, PLEKHH3, PLEKHM1, PNPO, POLDIP2, POLR2A, PPL, PRSS21, PRSS54, PSMC5, PSMG2, PTPRM, RAB11FIP3, RABEP1, RAP1GAP2, RAX, RBBP6, RBL2, RECQL5, RFWD3, RHOT2, RIT2, RNF157, RP11-1055B8.7, RPA1, RPL13, RPRD1A, RPTOR, RSAD1, RTTN, SCARF1, SCIMP, SCN4A, SCNN1B, SDK2, SEC14L5, SEPT1, SERPINB2, SERPINB8, SERPINF1, SETD6, SEZ6, SF3B3, SLC14A1, SLC14A2, SLC16A13, SLC25A19, SLC2A4, SLC38A10, SLC43A2, SLC5A10, SLC5A11, SLFN13, SLX4, SMCHD1, SMG1, SMG6, SMG8, SNAI3, SNF8, SNTB2, SNX29, SOCS6, SOGA2, SOX8, SP2, SPAG5, SPAG7, SPECC1, SPNS3, SRCIN1, SRRM2, STXBP4, SULT1A1, TAF1C, TAF4B, TBC1D10B, TBL3, TBX21, TBX6, TCAP, TCEB3B, TCF4, TEKT3, TEKT5, TEX14, TIMP2, TM4SF5, TMC7, TMC8, TMEM204, TMEM231, TNFRSF11A, TNFRSF13B, TNFSF12-TNFSF13, TNK1, TNRC6A, TNRC6C, TNS4, TOP2A, TPSAB1, TPSB2, TPSG1, TRAPPC8, TRIM16, TRPV2, TRPV3, TSC2, TSEN54, TSHZ1, TXNDC2, UBE2Z, ULK2, USP10, USP31, USP36, VAPA, WDR24, WDR59, WDR7, WDR90, WRAP53, WSCD1, WWP2, XAF1, XPO6, XYLT1, ZBTB14, ZBTB4, ZBTB7C, ZCCHC2, ZDHHC7, ZFP90, ZKSCAN2, ZMYND15, ZNF319, ZNF407, ZNF423, ZNF521, ZNF594, ZNF597, ZNF624, ZNF750, ZNF768, ZNF778, ZPBP2,

Genes at Omim

AARS, ABAT, ABCA3, ABCC6, ACACA, ACE, ACTG1, ADAMTS18, AFG3L2, ALG1, ALOXE3, APCDD1, ARSG, ATP2A1, BCL2, BRCA1, CACNA1H, CARD14, CCDC40, CDH1, CDH11, CDH3, CDT1, CES1, CHRNE, CIITA, CNTNAP1, COASY, COG4, COG8, COX10, CTC1, CTU2, CYB5A, DCC, DHX38, DNAAF1, DNAH9, DPH1, DSG1, EARS2, EFTUD2, ELAC2, ELP2, EPX, FA2H, FSCN2, GAA, GAS8, GEMIN4, GFAP, GRIN2A, HOXB1, HOXB13, IFT140, ITGB3, JPH3, KANSL1, KARS, KIAA0753, KIF1C, KRT14, KRT16, KRT25, KRT9, LAMA1, LAMA3, LAT, LMF1, MEFV, MEIOB, MMP2, MYH2, MYH3, MYH8, MYO5B, NAGS, NOD2, NPC1, NPC1, NQO1, NUP85, P4HB, PIEZO2, PITPNM3, PKD1, PLCG2, PLEKHM1, PNPO, RAX, RFWD3, RTTN, SCN4A, SCNN1B, SERPINB8, SERPINF1, SLC14A1, SLC25A19, SLX4, SMCHD1, TAF4B, TBX21, TBX6, TCAP, TCF4, TEX14, TMC8, TMEM231, TNFRSF11A, TNFRSF13B, TNRC6A, TOP2A, TRPV3, TSC2, TSEN54, TSHZ1, WRAP53, XYLT1, ZMYND15, ZNF423, ZNF750,
AARS Charcot-Marie-Tooth disease, axonal, type 2N, 613287 (3)
Epileptic encephalopathy, early infantile, 29, 616339 (3)
ABAT GABA-transaminase deficiency, 613163 (3)
ABCA3 Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)
ABCC6 Arterial calcification, generalized, of infancy, 2, 614473 (3)
Pseudoxanthoma elasticum, 264800 (3)
Pseudoxanthoma elasticum, forme fruste, 177850 (3)
ACACA Acetyl-CoA carboxylase deficiency, 613933 (1)
ACE {Microvascular complications of diabetes 3}, 612624 (3)
{Myocardial infarction, susceptibility to} (3)
{SARS, progression of} (3)
{Stroke, hemorrhagic}, 614519 (3)
Renal tubular dysgenesis, 267430 (3)
[Angiotensin I-converting enzyme, benign serum increase] (3)
ACTG1 Baraitser-Winter syndrome 2, 614583 (3)
Deafness, autosomal dominant 20/26, 604717 (3)
ADAMTS18 Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 (3)
AFG3L2 Spastic ataxia 5, autosomal recessive, 614487 (3)
Spinocerebellar ataxia 28, 610246 (3)
ALG1 Congenital disorder of glycosylation, type Ik, 608540 (3)
ALOXE3 Ichthyosis, congenital, autosomal recessive 3, 606545 (3)
APCDD1 Hypotrichosis 1, 605389 (3)
ARSG Usher syndrome, type IV, 618144 (3)
ATP2A1 Brody myopathy, 601003 (3)
BCL2 Leukemia/lymphoma, B-cell, 2 (3)
BRCA1 Fanconi anemia, complementation group S, 617883 (3)
{Pancreatic cancer, susceptibility to, 4}, 614320 (3)
{Breast-ovarian cancer, familial, 1}, 604370 (3)
CACNA1H Hyperaldosteronism, familial, type IV, 617027 (3)
{Epilepsy, childhood absence, susceptibility to, 6}, 611942 (3)
{Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3)
CARD14 Pityriasis rubra pilaris, 173200 (3)
Psoriasis 2, 602723 (3)
CCDC40 Ciliary dyskinesia, primary, 15, 613808 (3)
CDH1 Gastric cancer, hereditary diffuse, with or without cleft lip and/or palate, 137215 (3)
Blepharocheilodontic syndrome 1, 119580 (3)
Endometrial carcinoma, somatic, 608089 (3)
{Prostate cancer, susceptibility to}, 176807 (3)
Ovarian cancer, somatic, 167000 (3)
{Breast cancer, lobular}, 114480 (3)
CDH11 Elsahy-Waters syndrome, 211380 (3)
CDH3 Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 (3)
Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3)
CDT1 Meier-Gorlin syndrome 4, 613804 (3)
CES1 Drug metabolism, altered, CES1-related, 618057 (3)
CHRNE Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3)
Myasthenic syndrome, congenital, 4B, fast-channel, 616324 (3)
Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 (3)
CIITA Bare lymphocyte syndrome, type II, complementation group A, 209920 (3)
{Rheumatoid arthritis, susceptibility to}, 180300 (3)
CNTNAP1 Hypomyelinating neuropathy, congenital, 3, 618186 (3)
Lethal congenital contracture syndrome 7, 616286 (3)
COASY Neurodegeneration with brain iron accumulation 6, 615643 (3)
Pontocerebellar hypoplasia, type 12, 618266 (3)
COG4 Congenital disorder of glycosylation, type IIj, 613489 (3)
Saul-Wilson syndrome, 618150 (3)
COG8 Congenital disorder of glycosylation, type IIh, 611182 (3)
COX10 Leigh syndrome due to mitochondrial COX4 deficiency, 256000 (3)
Mitochondrial complex IV deficiency, 220110 (3)
CTC1 Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3)
CTU2 Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 (3)
CYB5A Methemoglobinemia and ambiguous genitalia, 250790 (3)
DCC Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 (3)
Colorectal cancer, somatic, 114500 (3)
Esophageal carcinoma, somatic, 133239 (3)
Mirror movements 1 and/or agenesis of the corpus callosum, 157600 (3)
DHX38 Retinitis pigmentosa 84, 618220 (3)
DNAAF1 Ciliary dyskinesia, primary, 13, 613193 (3)
DNAH9 Ciliary dyskinesia, primary, 40, 618300 (3)
DPH1 Developmental delay with short stature, dysmorphic features, and sparse hair, 616901 (3)
DSG1 Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508 (3)
Keratosis palmoplantaris striata I, AD, 148700 (3)
EARS2 Combined oxidative phosphorylation deficiency 12, 614924 (3)
EFTUD2 Mandibulofacial dysostosis, Guion-Almeida type, 610536 (3)
ELAC2 Combined oxidative phosphorylation deficiency 17, 615440 (3)
{Prostate cancer, hereditary, 2, susceptibility to}, 614731 (3)
ELP2 Mental retardation, autosomal recessive 58, 617270 (3)
EPX [Eosinophil peroxidase deficiency], 261500 (3)
FA2H Spastic paraplegia 35, autosomal recessive, 612319 (3)
FSCN2 Retinitis pigmentosa 30, 607921 (3)
GAA Glycogen storage disease II, 232300 (3)
GAS8 Ciliary dyskinesia, primary, 33, 616726 (3)
GEMIN4 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 (3)
GFAP Alexander disease, 203450 (3)
GRIN2A Epilepsy, focal, with speech disorder and with or without mental retardation, 245570 (3)
HOXB1 Facial paresis, hereditary congenital, 3, 614744 (3)
HOXB13 {Prostate cancer, hereditary, 9}, 610997 (3)
IFT140 Retinitis pigmentosa 80, 617781 (3)
Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3)
ITGB3 Glanzmann thrombasthenia, 273800 (3)
Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3)
{Myocardial infarction, susceptibility to}, 608446 (3)
Purpura, posttransfusion (3)
Thrombocytopenia, neonatal alloimmune (3)
JPH3 Huntington disease-like 2, 606438 (3)
KANSL1 Koolen-De Vries syndrome, 610443 (3)
KARS Deafness, autosomal recessive 89, 613916 (3)
?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 (3)
KIAA0753 ?Orofaciodigital syndrome XV, 617127 (3)
KIF1C Spastic ataxia 2, autosomal recessive, 611302 (3)
KRT14 Dermatopathia pigmentosa reticularis, 125595 (3)
Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3)
Epidermolysis bullosa simplex, Koebner type, 131900 (3)
Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3)
Epidermolysis bullosa simplex, recessive 1, 601001 (3)
Naegeli-Franceschetti-Jadassohn syndrome, 161000 (3)
KRT16 Pachyonychia congenita 1, 167200 (3)
Palmoplantar keratoderma, nonepidermolytic, focal, 613000 (3)
KRT25 Woolly hair, autosomal recessive 3, 616760 (3)
KRT9 Palmoplantar keratoderma, epidermolytic, 144200 (3)
LAMA1 Poretti-Boltshauser syndrome, 615960 (3)
LAMA3 Epidermolysis bullosa, generalized atrophic benign, 226650 (3)
Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Laryngoonychocutaneous syndrome, 245660 (3)
LAT Immunodeficiency 52, 617514 (3)
LMF1 Lipase deficiency, combined, 246650 (3)
MEFV Familial Mediterranean fever, AD, 134610 (3)
Familial Mediterranean fever, AR, 249100 (3)
MEIOB ?Spermatogenic failure 22, 617706 (3)
MMP2 Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3)
MYH2 Proximal myopathy and ophthalmoplegia, 605637 (3)
MYH3 Arthrogryposis, distal, type 2A, 193700 (3)
Arthrogryposis, distal, type 2B, 601680 (3)
Arthrogryposis, distal, type 8, 178110 (3)
MYH8 Carney complex variant, 608837 (3)
Trismus-pseudocamptodactyly syndrome, 158300 (3)
MYO5B Microvillus inclusion disease, 251850 (3)
NAGS N-acetylglutamate synthase deficiency, 237310 (3)
NOD2 Blau syndrome, 186580 (3)
{Inflammatory bowel disease 1, Crohn disease}, 266600 (3)
{Psoriatic arthritis, susceptibility to}, 607507 (2)
{Yao syndrome}, 617321 (3)
NPC1 {Nasopharyngeal carcinoma 1} (2)
NPC1 Niemann-Pick disease, type C1, 257220 (3)
Niemann-Pick disease, type D, 257220 (3)
NQO1 {Leukemia, post-chemotherapy, susceptibility to} (3)
{Benzene toxicity, susceptibility to} (3)
{Breast cancer, poor survival after chemotherapy for} (3)
NUP85 Nephrotic syndrome, type 17, 618176 (3)
P4HB Cole-Carpenter syndrome 1, 112240 (3)
PIEZO2 Arthrogryposis, distal, type 3, 114300 (3)
Arthrogryposis, distal, type 5, 108145 (3)
Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3)
?Marden-Walker syndrome, 248700 (3)
PITPNM3 Cone-rod dystrophy 5, 600977 (3)
PKD1 Polycystic kidney disease 1, 173900 (3)
PLCG2 Familial cold autoinflammatory syndrome 3, 614468 (3)
Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878 (3)
PLEKHM1 Osteopetrosis, autosomal dominant 3, 618107 (3)
?Osteopetrosis, autosomal recessive 6, 611497 (3)
PNPO Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3)
RAX Microphthalmia, isolated 3, 611038 (3)
RFWD3 ?Fanconi anemia, complementation group W, 617784 (3)
RTTN Microcephaly, short stature, and polymicrogyria with seizures, 614833 (3)
SCN4A Hyperkalemic periodic paralysis, type 2, 170500 (3)
Hypokalemic periodic paralysis, type 2, 613345 (3)
Myasthenic syndrome, congenital, 16, 614198 (3)
Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3)
Paramyotonia congenita, 168300 (3)
SCNN1B Bronchiectasis with or without elevated sweat chloride 1, 211400 (3)
Liddle syndrome 1, 177200 (3)
Pseudohypoaldosteronism, type I, 264350 (3)
SERPINB8 Peeling skin syndrome 5, 617115 (3)
SERPINF1 Osteogenesis imperfecta, type VI, 613982 (3)
SLC14A1 [Blood group, Kidd], 111000 (3)
SLC25A19 Microcephaly, Amish type, 607196 (3)
Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (3)
SLX4 Fanconi anemia, complementation group P, 613951 (3)
SMCHD1 Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 (3)
Bosma arhinia microphthalmia syndrome, 603457 (3)
TAF4B ?Spermatogenic failure 13, 615841 (3)
TBX21 Asthma and nasal polyps, 208550 (3)
{Asthma, aspirin-induced, susceptibility to}, 208550 (3)
TBX6 Spondylocostal dysostosis 5, 122600 (3)
TCAP Cardiomyopathy, hypertrophic, 25, 607487 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 7, 601954 (3)
TCF4 Corneal dystrophy, Fuchs endothelial, 3, 613267 (3)
Pitt-Hopkins syndrome, 610954 (3)
TEX14 ?Spermatogenic failure 23, 617707 (3)
TMC8 Epidermodysplasia verruciformis 2, 618231 (3)
TMEM231 Joubert syndrome 20, 614970 (3)
Meckel syndrome 11, 615397 (3)
TNFRSF11A {Paget disease of bone 2, early-onset}, 602080 (3)
Osteolysis, familial expansile, 174810 (3)
Osteopetrosis, autosomal recessive 7, 612301 (3)
TNFRSF13B Immunodeficiency, common variable, 2, 240500 (3)
Immunoglobulin A deficiency 2, 609529 (3)
TNRC6A ?Epilepsy, familial adult myoclonic, 6, 618074 (3)
TOP2A DNA topoisomerase II, resistance to inhibition of, by amsacrine (3)
TRPV3 Olmsted syndrome, 614594 (3)
?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400 (3)
TSC2 Lymphangioleiomyomatosis, somatic, 606690 (3)
?Focal cortical dysplasia, type II, somatic, 607341 (3)
Tuberous sclerosis-2, 613254 (3)
TSEN54 Pontocerebellar hypoplasia type 2A, 277470 (3)
Pontocerebellar hypoplasia type 4, 225753 (3)
?Pontocerebellar hypoplasia type 5, 610204 (3)
TSHZ1 Aural atresia, congenital, 607842 (3)
WRAP53 Dyskeratosis congenita, autosomal recessive 3, 613988 (3)
XYLT1 Desbuquois dysplasia 2, 615777 (3)
{Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3)
ZMYND15 ?Spermatogenic failure 14, 615842 (3)
ZNF423 Joubert syndrome 19, 614844 (3)
Nephronophthisis 14, 614844 (3)
ZNF750 Seborrhea-like dermatitis with psoriasiform elements, 610227 (3)

Genes at Clinical Genomics Database

AARS, ABAT, ABCA3, ABCC6, ACE, ACTG1, ADAMTS18, AFG3L2, ALG1, ALOXE3, APCDD1, ATP2A1, BRCA1, CARD14, CCDC40, CDH1, CDH3, CDT1, CES1, CHRNE, CIITA, CNTNAP1, COASY, COG4, COG8, COX10, CTC1, CYB5A, DCC, DNAAF1, DPH1, DSG1, EARS2, EFTUD2, ELAC2, EPX, FA2H, FSCN2, GAA, GAS8, GFAP, GRIN2A, HOXB1, IFT140, ITGB3, JPH3, KANSL1, KARS, KIAA0556, KIF1C, KRT14, KRT16, KRT25, KRT9, LAMA1, LAMA3, LMF1, MEFV, MMP2, MYH2, MYH3, MYH8, MYO5B, NAGS, NOD2, NPC1, P4HB, PIEZO2, PITPNM3, PKD1, PLCG2, PLEKHM1, PNPO, RAX, RTTN, SCN4A, SCNN1B, SERPINF1, SLC14A1, SLC25A19, SLX4, SMCHD1, TAF4B, TBX6, TCAP, TCF4, TMC8, TMEM231, TNFRSF11A, TNFRSF13B, TRPV3, TSC2, TSEN54, TSHZ1, WRAP53, XYLT1, ZMYND15, ZNF423, ZNF750,
AARS Charcot-Marie-Tooth disease, axonal, type 2N
Epileptic encephalopathy, early infantile, 29
ABAT GABA-transaminase deficiency
ABCA3 Surfactant metabolism dysfunction, pulmonary, 3
Interstitial lung disease
ABCC6 Pseudoxanthoma elasticum
ACE Renal tubular dysgenesis
ACE serum levels
ACTG1 Deafness, autosomal dominant 20
Baraitser-Winter syndrome 2
ADAMTS18 Knobloch syndrome 2
Microcornea, myopic chorioretinal atrophy, and telecanthus
Retinal dystrophy, early onset, autosomal recessive
AFG3L2 Spinocerebellar ataxia 28
Spastic ataxia 5, autosomal recessive
ALG1 Congenital disorder of glycosylation, type Ik
ALOXE3 Ichthyosiform erythroderma, congenital, nonbullous, 1
APCDD1 Hypotrichosis 1
ATP2A1 Brody myopathy
BRCA1 Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
CARD14 Psoriasis 2
CCDC40 Ciliary dyskinesia, primary, 15
CDH1 CDH1-related cancer
CDH3 Hypotrichosis, congenital, with juvenile macular dystrophy
Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
CDT1 Meier-Gorlin syndrome 4
CES1 Carboxylesterase 1 deficiency
CHRNE Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
Myasthenic syndrome, fast-channel congenital
Myasthenic syndrome, slow-channel congenital
CIITA Bare lymphocyte syndrome, type II
CNTNAP1 Lethal congenital contracture syndrome 7
COASY Neurodegeneration with brain iron accumulation 6
COG4 Congenital disorder of glycosylation, type IIj
COG8 Congenital disorder of glycosylation, type IIh
COX10 Mitochondrial complex IV deficiency
Leigh syndrome
CTC1 Cerebroretinal microangiopathy with calcifications and cysts
CYB5A 46, XY disorder of sex development
Methemoglobinemia, type IV
DCC Mirror movements 1
DNAAF1 Ciliary dyskinesia, primary, 13
DPH1 Developmental delay with short stature, dysmorphic features, and sparse hair
DSG1 Severe dermatitis, multiple allergies, and metabolic wasting syndrome (SAM syndrome)
EARS2 Combined oxidative phosphorylation deficiency 12
EFTUD2 Mandibulofacial dysostosis, Guion-Almeida type
Esophageal atresia, syndromic
ELAC2 Combined oxidative phosphorylation deficiency 17
EPX Eosinophil peroxidase deficiency
FA2H Spastic paraplegia 35, autosomal recessive
FSCN2 Retinitis pigmentosa 30
GAA Glycogen storage disease II
GAS8 Ciliary dyskinesia, primary, 33
GFAP Alexander disease
GRIN2A Epilepsy, focal, with speech disorder and with or without mental retardation
HOXB1 Facial paresis, hereditary congenital, 3
IFT140 Short-rib thoracic dysplasia 9 with or without polydactyly
ITGB3 Bleeding disorder, platelet-type, 16, autosomal dominant
Glanzmann thrombasthenia
Thrombocytopenia, neonatal alloimmune
JPH3 Huntington disease-like 2
KANSL1 Koolen-de Vries syndrom
KARS Charcot-Marie-Tooth disease, recessive intermediate B
KIAA0556 Joubert syndrome 26
KIF1C Spastic ataxia 2, autosomal recessive
KRT14 Epidermolysis bullosa simplex, autosomal recessive
Naegeli-Franceschetti-Jadassohn syndrome
Dermatopathia pigmentosa reticularis
Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex, Weber-Cockayne type
Epidermolysis bullosa simplex, Dowling-Meara type
KRT16 Palmoplantar keratoderma, nonepidermolytic, focal
Pachyonychia congenita 1
KRT25 Woolly hair, autosomal recessive 3
KRT9 Palmoplantar keratoderma, epidermolytic
Knuckle pads
LAMA1 Poretti-Boltshauser syndrome
LAMA3 Laryngoonychocutaneous syndrome
Epidermolysis bullosa, junctional, Herlitz type
Epidermolysis bullosa, generalized atrophic benign
LMF1 Combined lipase deficiency
MEFV Familial Mediterranean fever
MMP2 Torg-Winchester syndrome
Multicentric osteolysis, nodulosis, and arthropathy
MYH2 Inclusion body myopathy 3
MYH3 Arthrogryposis, distal, type 2A
Arthyrgryposis, distal, type 2B
Arthrogryposis, distal, type 8
MYH8 Carney complex variant
Arthrogryposis, distal, type 7
Trismus-pseudocamptodactyly syndrome
MYO5B Diarrhea 2, with microvillus atrophy
NAGS N-acetylglutamate synthase deficiency
NOD2 Blau syndrome
Sarcoidosis, early-onset
NPC1 Niemann-Pick disease, type C1
Niemann-Pick disease, type D
P4HB Cole Carpenter syndrome 1
PIEZO2 Distal arthrogryposis type 3
Distal arthrogryposis type 5
Marden-Walker syndrome
PITPNM3 Cone-rod dystrophy 5
PKD1 Polycystic kidney disease, adult type I
PLCG2 Familial cold autoinflammatory syndrome 3 (PLAID)
Autoinflammation, antibody deficiency, and immune dysregulation syndrome (APLAID)
PLEKHM1 Osteopetrosis, autosomal recessive 6
PNPO Individuals may manifest with severe seizures starting in the immediate neonatal period (or even before birth), and medical treatment (with pyridoxine) can be effective as an antiepileptic agent
RAX Microphthalmia, isolated 3
RTTN Microcephaly, short stature, and polymicrogyria with or without seizures
SCN4A Paramyotonia congenita
Hyperkalemic periodic paralysis, type 2
Hypokalemic periodic paralysis, type 2
Normokalemic potassium-sensitive periodic paralysis
Malignant hyperthermia, susceptibility to
Myasthenic syndrome, congenital, 16
Myotonia, potassium-aggravated
SCNN1B Pseudohypoaldosteronism, type I
Liddle syndrome
Bronchiectasis with or without elevated sweat chloride 3
SERPINF1 Osteogenesis imperfecta, type VI
SLC14A1 Blood group, Kidd
SLC25A19 Thiamine metabolism dysfunction syndrome 4
Microcephaly, Amish type
SLX4 Fanconi anemia type P
SMCHD1 Facioscapulohumeral muscular dystrophy, type 2
TAF4B Spermatogenic failure 13
TBX6 Spondylocostal dysostosis 5
TCAP Cardiomyopathy, dilated, 1N
Cardiomyopathy, familial hypertrophic 25
Muscular dystrophy, limb-girdle, type 2G
TCF4 Corneal dystrophy, Fuchs endothelial, 3
Pitt-Hopkins syndrome
TMC8 Epidermodysplasia verruciformis
TMEM231 Joubert syndrome 20
Meckel syndrome 11
TNFRSF11A Familial expansile osteolysis
Paget disease of bone 2, early-onset
Osteopetrosis, autosomal recessive 7
TNFRSF13B Immunoglobulin A deficiency 2
Common variable immunodeficiency 2
TRPV3 Olmsted syndrome
Palmoplantar keratoderma, nonepidermolytic focal 2
TSC2 Tuberous sclerosis 2
Lymphangioleiomyomatosis
TSEN54 Pontocerebellar hypoplasia, type 2A
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 5
TSHZ1 Aural atresia, congenital
WRAP53 Dyskeratosis congenita, autosomal recessive 3
XYLT1 Desbuquois dysplasia 2
ZMYND15 Spermatogenic failure 14
ZNF423 Joubert syndrome 19
Nephronophthisis 14
ZNF750 Seborrhea-like dermatitis with psoriasiform elements

Genes at HGMD

Summary

Number of Variants: 626
Number of Genes: 425

Export to: CSV

AARS

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 schinzel_giedion 16 rs4081753
dbSNP Clinvar
70287177 285.8 A G PASS 0/1 19 SYNONYMOUS_CODING LOW None 0.88119 0.88120 0.15082 None None None None None None AARS|0.341353977|24.74%
View schinzel_giedion 16 rs2070203
dbSNP Clinvar
70303580 2252.65 G A PASS 0/1 210 SYNONYMOUS_CODING LOW None 0.42532 0.42530 0.49077 None None None None None None AARS|0.341353977|24.74%

AATF

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 schinzel_giedion 17 rs1045056
dbSNP Clinvar
35346641 2178.9 T C PASS 0/1 149 SYNONYMOUS_CODING LOW None 0.15675 0.15670 0.24273 None None None None None None AATF|0.980408321|1.45%

AATK

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 schinzel_giedion 17 rs8073904
dbSNP Clinvar
79095144 110.12 G A PASS 0/1 14 SYNONYMOUS_CODING LOW None 0.80531 0.80530 0.14925 None None None None None None AATK|0.00450864|86.39%

ABAT

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 schinzel_giedion 16 rs1641022
dbSNP Clinvar
8868776 771.19 C A PASS 0/1 60 SYNONYMOUS_CODING LOW None 0.31749 0.31750 0.32261 None None None None None None ABAT|0.163825558|41.04%

ABCA10

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 schinzel_giedion 17 rs12941264
dbSNP Clinvar
67215712 461.88 C T PASS 0/1 52 SYNONYMOUS_CODING LOW None 0.59844 0.59840 0.32759 None None None None None None ABCA10|0.002179826|90.49%
View schinzel_giedion 17 rs11077414
dbSNP Clinvar
67212031 667.65 A G PASS 0/1 51 SYNONYMOUS_CODING LOW None 0.06470 0.47140 0.42465 None None None None None None ABCA10|0.002179826|90.49%

ABCA3

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 schinzel_giedion 16 rs13332514
dbSNP Clinvar
2367336 910.72 G A PASS 0/1 82 SYNONYMOUS_CODING LOW None 0.19269 0.19270 0.09465 None None None None None None ABCA3|0.043607901|64.64%

ABCA6

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 schinzel_giedion 17 rs138479597
dbSNP Clinvar
67111065 349.75 G A PASS 0/1 20 SYNONYMOUS_CODING LOW None 0.00140 0.00140 0.00484 None None None None None None ABCA6|0.006278632|84.32%

ABCA8

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 schinzel_giedion 17 rs8068987
dbSNP Clinvar
66873743 1679.7 G A PASS 0/1 117 SYNONYMOUS_CODING LOW None 0.15455 0.15460 0.14647 None None None None None None ABCA8|0.008754907|81.9%

ABCC1

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View schinzel_giedion 16 rs191017838
dbSNP Clinvar
16208714 150.06 G A PASS 0/1 17 SYNONYMOUS_CODING LOW None 0.00080 0.00080 0.00551 None None None None None None ABCC1|0.091540799|52.94%
View schinzel_giedion 16 rs35605
dbSNP Clinvar
16162019 927.6 T C PASS 0/1 62 SYNONYMOUS_CODING LOW None 0.78654 0.78650 0.15359 None None None None None None ABCC1|0.091540799|52.94%

ABCC12

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 schinzel_giedion 16 rs12149826
dbSNP Clinvar
48164777 391.91 T C PASS 0/1 26 SYNONYMOUS_CODING LOW None 0.12081 0.12080 0.22335 None None None None None None ABCC12|0.070949421|57.23%

ABCC3

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 schinzel_giedion 17 rs1051640
dbSNP Clinvar
48768486 379.97 A G PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.10403 0.10400 0.14639 None None None None None None ABCC3|0.044769991|64.26%
View schinzel_giedion 17 rs2277624
dbSNP Clinvar
48761105 435.09 C T PASS 0/1 43 SYNONYMOUS_CODING LOW None 0.28694 0.28690 0.26465 None None None None None None ABCC3|0.044769991|64.26%

ABCC6

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 schinzel_giedion 16 rs9940825
dbSNP Clinvar
16291971 239.16 C T PASS 0/1 19 SYNONYMOUS_CODING LOW None 0.23223 0.23220 0.30603 None None None None None None ABCC6|0.022547171|72.9%
View schinzel_giedion 16 rs9924755
dbSNP Clinvar
16271409 377.2 G A PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.15156 0.15160 0.18816 None None None None None None ABCC6|0.022547171|72.9%
View schinzel_giedion 16 rs9930886
dbSNP Clinvar
16291983 290.08 A G PASS 0/1 16 SYNONYMOUS_CODING LOW None 0.28275 0.28270 0.31330 None None None None None None ABCC6|0.022547171|72.9%

AC004381.6

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 schinzel_giedion 16 rs9929443
dbSNP Clinvar
20855309 1033.9 A G PASS 0/1 60 SYNONYMOUS_CODING LOW None 0.82428 0.82430 0.16751 None None None None None None ERI2|0.119712352|47.5%

ACACA

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 schinzel_giedion 17 rs1470452
dbSNP Clinvar
35478362 2160.59 T C PASS 1/1 76 SYNONYMOUS_CODING LOW None 1.00000 1.00000 0.00108 None None None None None None ACACA|0.94269074|2.39%

ACE

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View schinzel_giedion 17 rs4331
dbSNP Clinvar
61564052 257.19 A G PASS 0/1 35 SYNONYMOUS_CODING LOW None 0.52955 0.52960 0.44326 None None None None None None ACE|0.894558224|3.56%
View schinzel_giedion 17 rs4362
dbSNP Clinvar
61573761 756.14 T C PASS 0/1 78 SYNONYMOUS_CODING LOW None 0.58746 0.58750 0.49470 None None None None None None ACE|0.894558224|3.56%
View schinzel_giedion 17 rs4343
dbSNP Clinvar
61566031 728.0 G A PASS 0/1 71 SYNONYMOUS_CODING LOW None 0.64317 0.64320 0.43987 None None None None None None ACE|0.894558224|3.56%
View schinzel_giedion 17 rs4309
dbSNP Clinvar
61559923 651.56 C T PASS 0/1 57 SYNONYMOUS_CODING LOW None 0.42352 0.42350 0.33569 None None None None None None ACE|0.894558224|3.56%

ACSF2

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View schinzel_giedion 17 rs9674937
dbSNP Clinvar
48539035 475.09 T C PASS 0/1 49 SYNONYMOUS_CODING LOW None 0.34405 0.34400 0.37667 None None None None None None ACSF2|0.036236332|67.04%

ACSM1

Omim - GeneCards - NCBI
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RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View schinzel_giedion 16 rs151328
dbSNP Clinvar
20648702 449.14 G A PASS 0/1 56 SYNONYMOUS_CODING LOW None 0.34685 0.34680 0.30019 None None None None None None ACSM3|0.167284946|40.62%,ACSM1|0.006779542|83.72%
View schinzel_giedion 16 rs1692729
dbSNP Clinvar
20638576 2429.1 A T PASS 0/1 244 SYNONYMOUS_CODING LOW None 0.60583 0.60580 0.46293 None None None None None None ACSM3|0.167284946|40.62%,ACSM1|0.006779542|83.72%

ACSM2B

Omim - GeneCards - NCBI
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RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View schinzel_giedion 16 rs16970280
dbSNP Clinvar
20552075 2031.65 G T PASS 1/1 65 SYNONYMOUS_CODING LOW None 0.70607 0.70610 0.18525 None None None None None None ACSM2B|0.005001118|85.81%

ACSM5

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 schinzel_giedion 16 rs8063682
dbSNP Clinvar
20441084 201.19 T C PASS 0/1 40 SYNONYMOUS_CODING LOW None 0.54253 0.54250 0.43532 None None None None None None ACSM5|0.017561285|75.57%

ACTG1

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 schinzel_giedion 17 rs1139405
dbSNP Clinvar
79478019 689.94 G A PASS 0/1 69 SYNONYMOUS_CODING LOW None 0.75619 0.75620 0.24543 None None None None None None ACTG1|0.983116739|1.38%
View schinzel_giedion 17 rs1135989
dbSNP Clinvar
79478007 600.83 G A PASS 0/1 61 SYNONYMOUS_CODING LOW None 0.18530 0.18530 0.31639 None None None None None None ACTG1|0.983116739|1.38%

ADAMTS18

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 schinzel_giedion 16 rs35296483
dbSNP Clinvar
77327018 456.27 G A PASS 0/1 53 SYNONYMOUS_CODING LOW None 0.12420 0.12420 0.09449 None None None None None None ADAMTS18|0.112557021|48.75%
View schinzel_giedion 16 rs12935229
dbSNP Clinvar
77328895 235.76 C T PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.11462 0.11460 0.09380 None None None None None None ADAMTS18|0.112557021|48.75%

AFG3L2

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 schinzel_giedion 18 rs11553521
dbSNP Clinvar
12348285 337.73 T C PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.70986 0.70990 0.22074 None None None None None None AFG3L2|0.258891122|30.83%
View schinzel_giedion 18 rs11080572
dbSNP Clinvar
12351342 360.29 C T PASS 0/1 33 SYNONYMOUS_CODING LOW None 0.62320 0.62320 0.31386 None None None None None None AFG3L2|0.258891122|30.83%

AFMID

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View schinzel_giedion 17 rs72897838
dbSNP Clinvar
76198587 179.41 A G PASS 0/1 28 SYNONYMOUS_CODING LOW None 0.05990 0.05990 0.09503 None None None None None None AFMID|0.002123671|90.66%

AKAP1

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 schinzel_giedion 17 rs61751974
dbSNP Clinvar
55191888 341.71 C T PASS 0/1 34 SYNONYMOUS_CODING LOW None 0.00899 0.00899 0.00584 None None None None None None AKAP1|0.039700237|65.85%
View schinzel_giedion 17 rs2230772
dbSNP Clinvar
55183203 541.12 T C PASS 0/1 50 SYNONYMOUS_CODING LOW None 0.47824 0.47820 0.39136 None None None None None None AKAP1|0.039700237|65.85%

ALDH3A1

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 schinzel_giedion 17 rs2072330
dbSNP Clinvar
19644472 309.67 A T PASS 0/1 33 SYNONYMOUS_CODING LOW None 0.29074 0.29070 0.30186 None None None None None None ALDH3A1|0.032163878|68.52%

ALG1

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 schinzel_giedion 16 rs1047732
dbSNP Clinvar
5132636 802.06 C T PASS 0/1 89 SYNONYMOUS_CODING LOW None 0.51977 0.51980 0.46937 None None None None None None ALG1|0.0336465|67.9%

ALOXE3

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 schinzel_giedion 17 rs3809881
dbSNP Clinvar
7999957 733.64 G A PASS 0/1 61 SYNONYMOUS_CODING LOW None 0.42472 0.42470 0.36845 None None None None None None ALOXE3|0.073088496|56.77%

ALPK2

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 schinzel_giedion 18 rs9958735
dbSNP Clinvar
56247180 740.24 T C PASS 0/1 40 SYNONYMOUS_CODING LOW None 0.51018 0.51020 0.47932 None None None None None None ALPK2|0.002935349|88.74%
View schinzel_giedion 18 rs9956630
dbSNP Clinvar
56247567 982.67 A G PASS 0/1 80 SYNONYMOUS_CODING LOW None 0.48283 0.48280 0.45052 None None None None None None ALPK2|0.002935349|88.74%
View schinzel_giedion 18 rs7236563
dbSNP Clinvar
56196451 192.85 C T PASS 0/1 28 SYNONYMOUS_CODING LOW None 0.37300 0.37300 0.47617 None None None None None None ALPK2|0.002935349|88.74%
View schinzel_giedion 18 rs12963422
dbSNP Clinvar
56204644 93.68 T G PASS 0/1 14 SYNONYMOUS_CODING LOW None 0.33746 0.33750 0.28741 None None None None None None ALPK2|0.002935349|88.74%
View schinzel_giedion 18 rs3809971
dbSNP Clinvar
56204977 702.42 C T PASS 0/1 43 SYNONYMOUS_CODING LOW None 0.40415 0.40420 0.49470 None None None None None None ALPK2|0.002935349|88.74%
View schinzel_giedion 18 rs55910046
dbSNP Clinvar
56204410 316.22 C T PASS 0/1 57 SYNONYMOUS_CODING LOW None 0.40435 0.40440 0.43487 None None None None None None ALPK2|0.002935349|88.74%
View schinzel_giedion 18 rs3809980
dbSNP Clinvar
56203411 1041.45 G C PASS 1/1 32 SYNONYMOUS_CODING LOW None 0.67153 0.67150 0.31678 None None None None None None ALPK2|0.002935349|88.74%
View schinzel_giedion 18 rs3809981
dbSNP Clinvar
56203120 160.26 C T PASS 0/1 12 SYNONYMOUS_CODING LOW None 0.32987 0.32990 0.40866 None None None None None None ALPK2|0.002935349|88.74%

ANKS3

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 schinzel_giedion 16 rs841210
dbSNP Clinvar
4752134 68.43 A G PASS 0/1 7 SYNONYMOUS_CODING LOW None 0.52995 0.53000 0.44559 None None None None None None ANKS3|0.043782759|64.58%

AP1G1

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 schinzel_giedion 16 rs113235758
dbSNP Clinvar
71807232 709.27 C A PASS 0/1 64 SYNONYMOUS_CODING LOW None 0.01637 0.01637 0.04486 None None None None None None AP1G1|0.673746554|9.26%

APCDD1

Omim - GeneCards - NCBI
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RsId
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Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View schinzel_giedion 18 rs3185480
dbSNP Clinvar
10487918 607.49 C T PASS 0/1 46 SYNONYMOUS_CODING LOW None 0.40994 0.40990 0.35276 None None None None None None APCDD1|0.086159804|53.92%

AQP4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View schinzel_giedion 18 rs35248760
dbSNP Clinvar
24442392 1547.39 C A PASS 0/1 129 SYNONYMOUS_CODING LOW None 0.04413 0.04413 0.09011 None None None None None None AQP4|0.743437489|7.3%

ARHGAP28

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 schinzel_giedion 18 rs1116757
dbSNP Clinvar
6890434 98.59 A G PASS 0/1 7 SYNONYMOUS_CODING LOW None 0.56310 0.56310 0.43395 None None None None None None ARHGAP28|0.058067092|60.37%
View schinzel_giedion 18 rs4239328
dbSNP Clinvar
6889973 709.25 A G PASS 0/1 67 SYNONYMOUS_CODING LOW None 0.56090 0.56090 0.42934 None None None None None None ARHGAP28|0.058067092|60.37%

ARHGEF15

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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View schinzel_giedion 17 rs3744651
dbSNP Clinvar
8215534 523.13 C T PASS 0/1 44 SYNONYMOUS_CODING LOW None 0.41693 0.41690 0.34769 None None None None None None ARHGEF15|0.03636471|66.99%

ARRB2

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 schinzel_giedion 17 rs1045280
dbSNP Clinvar
4622638 622.42 C T PASS 0/1 48 SYNONYMOUS_CODING LOW None 0.66953 0.66950 0.40051 None None None None None None ARRB2|0.726219786|7.8%

ARSG

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 schinzel_giedion 17 rs1558877
dbSNP Clinvar
66364749 526.08 T C PASS 0/1 68 SYNONYMOUS_CODING LOW None 0.51138 0.51140 0.43964 None None None None None None ARSG|0.038924858|66.13%

ATMIN

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 schinzel_giedion 16 rs2257378
dbSNP Clinvar
81077915 229.65 T C PASS 0/1 29 SYNONYMOUS_CODING LOW None 0.70268 0.70270 0.25615 None None None None None None ATMIN|0.091182052|53%

ATP2A1

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 schinzel_giedion 16 rs6565259
dbSNP Clinvar
28898793 980.89 T C PASS 0/1 82 SYNONYMOUS_CODING LOW None 0.33886 0.33890 0.40365 None None None None None None ATP2A1|0.341919213|24.7%

ATP2A3

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 schinzel_giedion 17 rs758641
dbSNP Clinvar
3846802 1215.21 A G PASS 0/1 115 SYNONYMOUS_CODING LOW None 0.33327 0.33330 0.43911 None None None None None None ATP2A3|0.0615045|59.44%
View schinzel_giedion 17 rs17846889
dbSNP Clinvar
3845927 247.98 A G PASS 0/1 21 SYNONYMOUS_CODING LOW None 0.38478 0.38480 0.49716 None None None None None None ATP2A3|0.0615045|59.44%
View schinzel_giedion 17 rs1800912
dbSNP Clinvar
3844787 1053.79 C G PASS 0/1 76 SYNONYMOUS_CODING LOW None 0.14796 0.14800 0.22282 None None None None None None ATP2A3|0.0615045|59.44%

ATP2C2

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 schinzel_giedion 16 rs2241640
dbSNP Clinvar
84494275 909.82 C T PASS 0/1 81 SYNONYMOUS_CODING LOW None 0.47224 0.47220 0.42948 None None None None None None ATP2C2|0.028466008|70.21%

ATP9B

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 schinzel_giedion 18 rs3760541
dbSNP Clinvar
77067000 173.66 T G PASS 0/1 26 SYNONYMOUS_CODING LOW None 0.40336 0.40340 0.42219 None None None None None None ATP9B|0.095143963|52.07%

AZI1

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 schinzel_giedion 17 rs765497684
dbSNP Clinvar
79164752 251.55 C T PASS 0/1 16 SYNONYMOUS_CODING LOW None None None None None None None CEP131|0.010879041|80.18%
View schinzel_giedion 17 rs62075318
dbSNP Clinvar
79182778 175.39 T C PASS 0/1 16 SYNONYMOUS_CODING LOW None 0.41853 0.41850 0.34623 None None None None None None CEP131|0.010879041|80.18%

B3GNTL1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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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 schinzel_giedion 17 rs7406119
dbSNP Clinvar
81006629 607.71 C T PASS 0/1 52 SYNONYMOUS_CODING LOW None 0.19329 0.19330 0.22774 None None None None None None B3GNTL1|0.011137192|79.94%
View schinzel_giedion 17 rs1143006
dbSNP Clinvar
81006387 576.13 G A PASS 0/1 49 SYNONYMOUS_CODING LOW None 0.28554 0.28550 0.26549 None None None None None None B3GNTL1|0.011137192|79.94%
View schinzel_giedion 17 rs16940609
dbSNP Clinvar
80992932 435.73 A C PASS 0/1 39 SYNONYMOUS_CODING LOW None 0.17452 0.17450 0.21321 None None None None None None B3GNTL1|0.011137192|79.94%

BANP

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 schinzel_giedion 16 rs74740586
dbSNP Clinvar
88061150 768.31 C T PASS 0/1 61 SYNONYMOUS_CODING LOW None 0.37480 0.37480 0.27570 None None None None None None BANP|0.091573443|52.92%

BCAR1

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 schinzel_giedion 16 rs3169330
dbSNP Clinvar
75269267 193.07 A G PASS 0/1 23 SYNONYMOUS_CODING LOW None 0.92632 0.92630 0.15451 None None None None None None BCAR1|0.161589333|41.34%
View schinzel_giedion 16 rs3743613
dbSNP Clinvar
75269534 80.63 C T PASS 0/1 5 SYNONYMOUS_CODING LOW None 0.47185 0.47180 0.30454 None None None None None None BCAR1|0.161589333|41.34%

BCL2

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 schinzel_giedion 18 rs1801018
dbSNP Clinvar
60985879 509.9 T C PASS 0/1 53 SYNONYMOUS_CODING LOW None 0.24321 0.24320 0.31045 None None None None None None BCL2|0.938364507|2.54%

BCMO1

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 schinzel_giedion 16 rs28370522
dbSNP Clinvar
81279120 1324.18 T C PASS 0/1 102 SYNONYMOUS_CODING LOW None 0.37959 0.37960 0.38750 None None None None None None BCO1|0.044162038|64.47%
View schinzel_giedion 16 rs7202895
dbSNP Clinvar
81301571 332.98 A G PASS 0/1 57 SYNONYMOUS_CODING LOW None 0.14197 0.14200 0.14580 None None None None None None BCO1|0.044162038|64.47%

BRCA1

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 schinzel_giedion 17 rs1060915
dbSNP Clinvar
41234470 1526.25 A G PASS 0/1 126 SYNONYMOUS_CODING LOW None 0.33626 0.33630 0.27956 None None None None None None BRCA1|0.986984945|1.2%
View schinzel_giedion 17 rs16940
dbSNP Clinvar
41245237 1297.47 A G PASS 0/1 76 SYNONYMOUS_CODING LOW None 0.33526 0.33530 0.27764 None None None None None None BRCA1|0.986984945|1.2%
View schinzel_giedion 17 rs1799949
dbSNP Clinvar
41245466 666.55 G A PASS 0/1 50 SYNONYMOUS_CODING LOW None 0.33646 0.33650 0.29568 None None None None None None BRCA1|0.986984945|1.2%

BRICD5

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 schinzel_giedion 16 rs1129185
dbSNP Clinvar
2259393 345.09 C G PASS 0/1 38 SYNONYMOUS_CODING LOW None 0.02137 0.02137 0.04678 None None None None None None MLST8|0.291487513|28.27%,BRICD5|0.004572859|86.34%

C16orf59

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View schinzel_giedion 16 rs3810794
dbSNP Clinvar
2512523 101.79 G A PASS 0/1 8 SYNONYMOUS_CODING LOW None 0.28315 0.28310 0.20104 None None None None None None C16orf59|0.003821813|87.28%

C16orf71

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 schinzel_giedion 16 rs859305
dbSNP Clinvar
4790273 599.12 G A PASS 0/1 53 SYNONYMOUS_CODING LOW None 0.55272 0.55270 0.41835 None None None None None None C16orf71|0.001288696|93.97%

C16orf89

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 schinzel_giedion 16 rs741164
dbSNP Clinvar
5106184 353.83 C T PASS 0/1 39 SYNONYMOUS_CODING LOW None 0.52296 0.52300 0.43166 None None None None None None ALG1|0.0336465|67.9%,C16orf89|0.005419562|85.31%

C17orf47

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 schinzel_giedion 17 rs6503867
dbSNP Clinvar
56621359 386.54 T C PASS 0/1 36 SYNONYMOUS_CODING LOW None 0.91034 0.91030 0.16162 None None None None None None C17orf47|0.004415017|86.48%

C17orf80

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 schinzel_giedion 17 rs1566290
dbSNP Clinvar
71239087 335.28 G T PASS 0/1 37 SYNONYMOUS_CODING LOW None 0.22025 0.22020 0.27318 None None None None None None C17orf80|0.001436401|93.13%

C18orf8

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 schinzel_giedion 18 rs1367083
dbSNP Clinvar
21100240 506.65 C T PASS 0/1 39 SYNONYMOUS_CODING LOW None 0.61941 0.61940 0.49785 None None None None None None C18orf8|0.098725998|51.41%,NPC1|0.141724211|44.18%

CA10

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 schinzel_giedion 17 rs11870209
dbSNP Clinvar
49713300 247.04 G A PASS 0/1 20 SYNONYMOUS_CODING LOW None 0.36402 0.36400 0.41489 None None None None None None CA10|0.86384685|4.4%

CACNA1H

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 schinzel_giedion 16 rs57135930
dbSNP Clinvar
1268013 85.42 G C PASS 0/1 9 SYNONYMOUS_CODING LOW None 0.03275 0.03275 0.04325 None None None None None None CACNA1H|0.025235592|71.7%
View schinzel_giedion 16 rs8044363
dbSNP Clinvar
1250559 564.55 T C PASS 0/1 44 SYNONYMOUS_CODING LOW None 0.33267 0.33270 0.43814 None None None None None None CACNA1H|0.025235592|71.7%
View schinzel_giedion 16 rs28365124
dbSNP Clinvar
1260636 143.12 G A PASS 0/1 9 SYNONYMOUS_CODING LOW None 0.03355 0.03355 0.04788 None None None None None None CACNA1H|0.025235592|71.7%

CACNB1

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 schinzel_giedion 17 rs78894589
dbSNP Clinvar
37340336 384.24 G A PASS 0/1 38 SYNONYMOUS_CODING LOW None 0.00459 0.00459 0.01338 None None None None None None CACNB1|0.341929478|24.7%

CAMKK1

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 schinzel_giedion 17 rs7214864
dbSNP Clinvar
3775916 394.58 T C PASS 0/1 31 SYNONYMOUS_CODING LOW None 0.62919 0.62920 0.29386 None None None None None None CAMKK1|0.110934351|49.01%

CAPN15

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 schinzel_giedion 16 rs3213574
dbSNP Clinvar
601632 438.63 T C PASS 0/1 35 SYNONYMOUS_CODING LOW None 0.71725 0.71730 0.39024 None None None None None None CAPN15|0.02555615|71.52%
View schinzel_giedion 16 rs144075530
dbSNP Clinvar
601653 262.6 C T PASS 0/1 29 SYNONYMOUS_CODING LOW None 0.00260 0.00260 0.00315 None None None None None None CAPN15|0.02555615|71.52%

CAPNS2

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 schinzel_giedion 16 rs1502003
dbSNP Clinvar
55601388 1636.41 A G PASS 0/1 96 SYNONYMOUS_CODING LOW None 0.42292 0.42290 0.44418 None None None None None None LPCAT2|0.081317916|54.91%,CAPNS2|0.068895528|57.75%

CARD14

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 schinzel_giedion 17 rs11658460
dbSNP Clinvar
78166385 314.67 C T PASS 0/1 33 SYNONYMOUS_CODING LOW None 0.12141 0.12140 0.10203 None None None None None None CARD14|0.016890899|75.93%

CARHSP1

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 schinzel_giedion 16 rs8097
dbSNP Clinvar
8953081 150.07 C G PASS 0/1 10 SYNONYMOUS_CODING LOW None 0.56969 0.56970 0.44520 None None None None None None CARHSP1|0.085125444|54.13%

CCDC144A

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 schinzel_giedion 17 rs2349265
dbSNP Clinvar
16593798 162.09 C T PASS 0/1 23 SYNONYMOUS_CODING LOW None 0.05312 0.05312 0.09565 None None None None None None CCDC144A|0.002171352|90.51%

CCDC40

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 schinzel_giedion 17 rs12952612
dbSNP Clinvar
78071052 1023.52 T C PASS 0/1 76 SYNONYMOUS_CODING LOW None 0.71426 0.71430 0.26281 None None None None None None CCDC40|0.000987297|95.52%
View schinzel_giedion 17 rs2304854
dbSNP Clinvar
78073562 220.39 A G PASS 0/1 15 SYNONYMOUS_CODING LOW None 0.50160 0.50160 0.49195 None None None None None None CCDC40|0.000987297|95.52%