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
RS765986049 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS765986138 DMD Health Risk Pathogenic Dilated cardiomyopathy 3B, Dystrophin deficiency
RS765986755 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS765986851 ERCC8 Health Risk Pathogenic —
RS765987297 AFG3L2 Health Risk Pathogenic Spinocerebellar ataxia type 28, Spinocerebellar ataxia type 28
RS765987305 COL6A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Bethlem myopathy 1A
RS765987481 CYP17A1 Health Risk Conflicting classifications of pathogenicity Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS765988427 SETD1A Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with speech impairment and dysmorphic facies, Epilepsy
RS765989873 TNRC6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765990217 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS765990518 SLC22A12 Health Risk Pathogenic/Likely pathogenic Dalmatian hypouricemia, SLC22A12-related disorder
RS765990832 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS765992492 TINF2 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Revesz syndrome
RS765992922 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS76599296 WDR19 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS765995024 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 21, Inborn genetic diseases
RS765995574 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome
RS765995917 PIGN Health Risk Pathogenic/Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Inborn genetic diseases
RS765995979 TIMELESS Health Risk Conflicting classifications of pathogenicity Advance sleep phase syndrome, familial
RS765996726 DNASE2 Health Risk Conflicting classifications of pathogenicity —
RS765997807 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS765997859 PNPO Health Risk Conflicting classifications of pathogenicity Pyridoxal phosphate-responsive seizures, Inborn genetic diseases
RS765998048 BEST1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Autosomal recessive bestrophinopathy
RS765998625 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS765998879 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, VPS13B-related disorder
RS766000735 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS766001030 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS766003250 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS766004189 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Erythrokeratodermia variabilis et progressiva 6
RS766004699 CPT2 Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyltransferase II deficiency, Encephalopathy
RS766004910 FBN2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Congenital contractural arachnodactyly
RS766005419 FBP1 Health Risk Pathogenic Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS766005962 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS766007056 MBD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766007157 SDHC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor
RS766007316 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS766007350 NOTCH3 Health Risk Pathogenic Cerebral arteriopathy, autosomal dominant
RS766007827 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, ADGRV1-related disorder
RS766009038 RFX7 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, Neurodevelopmental disorder
RS766009849 SIPA1L3 Health Risk Conflicting classifications of pathogenicity —
RS766010704 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS766011053 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS766012920 PROM1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 12, Retinal macular dystrophy type 2
RS766013756 SDCCAG8 Health Risk Pathogenic Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS766013910 PROM1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS766014032 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS766014688 SLC24A1 Health Risk Likely pathogenic Congenital stationary night blindness 1D, Colorectal cancer
RS766014776 BCL11B Health Risk Conflicting classifications of pathogenicity BCL11B-related disorder, Inborn genetic diseases
RS766016391 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS766017194 SPATA7 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 3, SPATA7-related disorder
RS766017851 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Episodic pain syndrome
RS766019243 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS766019547 B3GAT3 Health Risk Pathogenic/Likely pathogenic MULTIPLE JOINT DISLOCATIONS, SHORT STATURE
RS766020213 POT1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3
RS766020802 CSPP1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 21, Joubert syndrome 21
RS766020928 PEX1 Health Risk Pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B
RS766021478 WNT10B Health Risk Pathogenic Tooth agenesis, selective
RS766022243 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS766022812 ZEB2 Health Risk Likely pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS766023596 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, FLNC-related disorder
RS766023894 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS766023993 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766024374 TGFB2 Health Risk Pathogenic —
RS766025194 COL4A3 Health Risk Pathogenic/Likely pathogenic Autosomal dominant Alport syndrome, Hematuria
RS766025734 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS766026374 ABCA4 Health Risk Likely pathogenic —
RS766026632 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
RS766026673 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Mitochondrial complex I deficiency
RS766027638 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766027720 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS766028970 SPINK5 Health Risk Pathogenic —
RS766029215 COL9A3 Health Risk Conflicting classifications of pathogenicity —
RS766029525 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS766030255 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS766030476 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS766032321 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS766032786 LRP2 Health Risk Pathogenic Donnai-Barrow syndrome, Inborn genetic diseases
RS766033802 KMT2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kabuki syndrome
RS766033867 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS766034355 AFG2A Health Risk Pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS766034818 SIX5 Health Risk Conflicting classifications of pathogenicity Branchiootorenal syndrome 2, Branchiootorenal syndrome 2
RS766035180 SDHAF2 Health Risk Pathogenic/Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS766035647 TGM1 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS766036082 SLC17A5 Health Risk Pathogenic Salla disease, Salla disease
RS766036459 TMPRSS15 Health Risk Likely pathogenic —
RS76603692 ERBB4 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 19, Amyotrophic lateral sclerosis
RS766037058 PNPO Health Risk Likely pathogenic Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
RS766037213 SETD5 Health Risk Conflicting classifications of pathogenicity SETD5-related disorder, SETD5-related disorder
RS766037357 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS766038184 CEP164 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 15, Inborn genetic diseases
RS766038321 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa
RS766039170 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Holoprosencephaly 7
RS76603930 DLEC1 Health Risk Conflicting classifications of pathogenicity —
RS766039450 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS766041973 SOX11 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
RS766042297 KMT2E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766042434 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS766042700 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS766043032 CYP17A1 Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia, Deficiency of steroid 17-alpha-monooxygenase
RS766044158 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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