SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS144334386 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5
RS144334723 EPG5 Health Risk Conflicting classifications of pathogenicity Vici syndrome, EPG5-related disorder
RS144334894 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS1443349195 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS144335584 WDR19 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS144335923 NSD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144335980 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS144336311 SNX27 Health Risk Conflicting classifications of pathogenicity Severe myoclonic epilepsy in infancy, Inborn genetic diseases
RS144337183 RPS19 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS144337813 SLC52A3 Health Risk Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 1, Inborn genetic diseases
RS144338227 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS144338608 MCM9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144338642 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS144338942 PRICKLE2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Progressive myoclonic epilepsy type 5
RS144339436 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, ITGB4-related disorder
RS144339604 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1443400614 OTOF Health Risk Likely pathogenic —
RS144341880 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS1443423967 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS144342633 EPHA2 Health Risk Conflicting classifications of pathogenicity Cataract 6 multiple types, EPHA2-related disorder
RS144342729 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS1443429078 ADGRG1 Health Risk Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS144342946 FUS Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 6, Tremor
RS144343161 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Usher syndrome type 2A
RS1443431827 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS1443432312 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1443434247 CLRN1 Health Risk Pathogenic —
RS144343899 COQ8B Health Risk Conflicting classifications of pathogenicity COQ8B-related disorder, COQ8B-related disorder
RS1443443959 CRB2 Health Risk Conflicting classifications of pathogenicity —
RS1443463485 GDF2 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS144346527 CIB2 Health Risk Conflicting classifications of pathogenicity CIB2-related disorder, CIB2-related disorder
RS1443466576 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS144346886 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Inborn genetic diseases
RS144346961 LRP6 Health Risk Conflicting classifications of pathogenicity LRP6-related disorder, Inborn genetic diseases
RS144346996 PYCR1 Health Risk Pathogenic/Likely pathogenic Cutis laxa, Inborn genetic diseases
RS144347127 LRP1B Health Risk Conflicting classifications of pathogenicity —
RS1443471590 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1443471859 COL4A1 Health Risk Likely pathogenic —
RS144347980 CNGB3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 3, Severe early-childhood-onset retinal dystrophy
RS1443486021 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1443492116 SLC35A2 Health Risk Conflicting classifications of pathogenicity SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS144350008 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS144350050 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS144350332 DDR2 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
RS144350829 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17
RS1443511163 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS144351488 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2B, PEX5-related disorder
RS1443518475 COL1A2 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS144352685 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS144353639 RFX5 Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS144354013 APOE Health Risk Conflicting classifications of pathogenicity Lipoprotein glomerulopathy, Familial type 3 hyperlipoproteinemia
RS144354024 MED25 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS1443540935 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS144354524 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS144354798 HNF1B Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, HNF1B-related disorder
RS1443551700 MCCC2 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS144356125 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1443563081 FLNA Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Heterotopia
RS1443578852 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS144358235 CARD11 Health Risk Conflicting classifications of pathogenicity BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency
RS144358858 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS144359050 EBP Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Intellectual disability
RS144359241 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1443592761 PLEKHG5 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy
RS144359377 C2CD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1443616611 TRMT5 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 26, Combined oxidative phosphorylation defect type 26
RS144362131 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS144362146 PNPO Health Risk Conflicting classifications of pathogenicity Pyridoxal phosphate-responsive seizures, PNPO-related disorder
RS1443637540 PALB2 Health Risk Pathogenic Malignant tumor of breast, Malignant tumor of breast
RS144363917 PI4KA Health Risk Conflicting classifications of pathogenicity Spastic paraplegia 84, autosomal recessive
RS1443641252 CA4 Health Risk Conflicting classifications of pathogenicity —
RS1443642527 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis
RS1443643776 BCS1L Health Risk Pathogenic/Likely pathogenic Mitochondrial complex III deficiency nuclear type 1, Pili torti-deafness syndrome
RS1443647175 ARSG Health Risk Conflicting classifications of pathogenicity —
RS144365187 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS144365564 IL1RAPL1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1443655691 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Primary myelofibrosis
RS144365725 CRB2 Health Risk Conflicting classifications of pathogenicity —
RS144366005 BOLA3 Health Risk Conflicting classifications of pathogenicity Multiple mitochondrial dysfunctions syndrome 2, BOLA3-related disorder
RS144366369 PTCD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144367111 MACF1 Health Risk Conflicting classifications of pathogenicity MACF1-related disorder, Clear cell carcinoma of kidney
RS144367884 CACNB2 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 4, Cardiovascular phenotype
RS1443687532 SEMA6B Health Risk Pathogenic/Likely pathogenic Epilepsy, progressive myoclonic
RS144368979 LAMA5 Health Risk Conflicting classifications of pathogenicity —
RS144369314 UTP4 Health Risk Conflicting classifications of pathogenicity Hereditary North American Indian childhood cirrhosis, UTP4-related disorder
RS144370662 TBK1 Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, TBK1-related disorder
RS144370737 PFKM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type VII
RS144370841 SEMA3E Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, SEMA3E-related disorder
RS144371265 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 25
RS1443718162 ACADSB Health Risk Pathogenic Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase
RS1443728958 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1443733304 SEC23B Health Risk Conflicting classifications of pathogenicity —
RS1443735811 OSGEP Health Risk Likely pathogenic Galloway-Mowat syndrome 3, Galloway-Mowat syndrome 3
RS1443738549 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1443739332 OTOF Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 9, Bilateral sensorineural hearing impairment
RS1443740202 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS144374978 CLCC1 Health Risk Conflicting classifications of pathogenicity —
RS1443751733 WFS1 Health Risk Pathogenic/Likely pathogenic Wolfram syndrome 1, See cases
RS144375242 GSN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144376043 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
« Prev 1 ... 597 598 599 600 601 602 603 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →