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
RS372985143 GRHPR Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type II
RS372985169 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372985511 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS372985571 SLC45A2 Health Risk Conflicting classifications of pathogenicity —
RS3729856 GATA4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Atrioventricular septal defect 4
RS372986399 CEP290 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Meckel-Gruber syndrome
RS372987620 FGFR3 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS372987719 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS372988386 TNNT2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS372988818 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS372989281 BEST1 Health Risk Pathogenic Retinitis pigmentosa, Autosomal dominant vitreoretinochoroidopathy
RS372989351 KCNQ5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372989498 FAN1 Health Risk Conflicting classifications of pathogenicity Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis
RS372989710 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS372989971 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS372990138 STX3 Health Risk Pathogenic —
RS372990379 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 5, Hereditary cancer-predisposing syndrome
RS372990521 NPHP3 Health Risk Conflicting classifications of pathogenicity Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome
RS372990693 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS372991229 RRM2B Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 8a, Mitochondrial DNA depletion syndrome 8a
RS372993383 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS372993798 WNT10A Health Risk Pathogenic/Likely pathogenic Tooth agenesis, selective
RS372994709 SCNN1B Health Risk Conflicting classifications of pathogenicity Bronchiectasis with or without elevated sweat chloride 1, Liddle syndrome 1
RS372995036 ATP13A2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
RS372995067 SLC24A1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1D, Congenital stationary night blindness 1D
RS372995559 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, Focal segmental glomerulosclerosis
RS372997298 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS372998688 CDAN1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type I
RS372998864 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS372999684 CTSD Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS372999896 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS373000760 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS373000965 BMPR1B Health Risk Conflicting classifications of pathogenicity Type A2 brachydactyly, Acromesomelic dysplasia 3
RS373000976 PMVK Health Risk Pathogenic/Likely pathogenic Linear porokeratosis, Porokeratosis 1
RS373001247 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2S
RS373001982 ADGRV1 Health Risk Conflicting classifications of pathogenicity Vascular disorder, Vascular disorder
RS373001984 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS373003699 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS3730044 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Renal tubular dysgenesis
RS373005024 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 2, isolated
RS373005571 CHRNA1 Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Congenital myasthenic syndrome
RS373005644 BCOR Health Risk Conflicting classifications of pathogenicity Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS373006852 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS373006940 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, Knobloch syndrome
RS373007615 LAMP2 Health Risk Conflicting classifications of pathogenicity Danon disease, Danon disease
RS373010581 FA2H Health Risk Conflicting classifications of pathogenicity Spastic ataxia, Spastic paraplegia
RS373011563 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Inborn genetic diseases
RS373011926 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS373011963 SPINK1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS373012628 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS373012629 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS373015421 CPT1A Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyl transferase 1A deficiency, Inborn genetic diseases
RS373015808 ADGRV1 Health Risk Pathogenic/Likely pathogenic Febrile seizures, familial
RS373015900 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases
RS373016534 TRAP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS373016758 CFTR Health Risk Conflicting classifications of pathogenicity CFTR-related disorder, CFTR-related disorder
RS373017321 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS373017958 AXL Health Risk Conflicting classifications of pathogenicity AXL-related disorder, AXL-related disorder
RS373018205 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS373018373 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS373018486 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS373018717 ZMYND10 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Inborn genetic diseases
RS373019036 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Inborn genetic diseases
RS3730193 IGF1 Health Risk Likely pathogenic Growth delay due to insulin-like growth factor type 1 deficiency, Growth delay due to insulin-like growth factor type 1 deficiency
RS373020081 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS373022042 CC2D1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373023392 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS373024059 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 2
RS373025050 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS373025706 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS3730271 RAF1 Health Risk Pathogenic Noonan syndrome, RASopathy
RS373028270 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373030463 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS373031930 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS373033761 PRPF3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 18, Retinitis pigmentosa 18
RS373034150 CLN3 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS373035489 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, Congenital microvillous atrophy
RS373037058 HPS3 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS373037095 ROR2 Health Risk Conflicting classifications of pathogenicity Brachydactyly type B1, Autosomal recessive Robinow syndrome
RS373037272 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS373037737 PDE6B Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa
RS373039171 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Inborn genetic diseases
RS373039242 HNRNPU Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 54
RS373039645 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS373040154 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS373040245 DHTKD1 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS373040273 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS373040333 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS373040789 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS373041067 DDC Health Risk Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase, Inborn genetic diseases
RS373041291 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS373041336 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS373041337 ITGB4 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa, junctional 5A
RS373041566 GALK1 Health Risk Conflicting classifications of pathogenicity Deficiency of galactokinase, Deficiency of galactokinase
RS373042738 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS373042980 HNRNPDL Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1G, Autosomal dominant limb-girdle muscular dystrophy type 1G
RS373044722 ENPP1 Health Risk Pathogenic/Likely pathogenic Arterial calcification, generalized
RS373044979 TSEN54 Health Risk Conflicting classifications of pathogenicity Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
RS373045276 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS373046018 POLR1C Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 11, Hypomyelinating leukodystrophy 11
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