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
RS371779884 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 1, Thyroid cancer
RS371780214 PRPF6 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS371781535 SLC25A13 Health Risk Likely pathogenic Citrullinemia, type II
RS371782922 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS371783666 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS371783831 ROGDI Health Risk Conflicting classifications of pathogenicity Amelocerebrohypohidrotic syndrome, Inborn genetic diseases
RS371784007 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS371784719 KCNQ2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS371785683 TTN Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy 1G
RS371786500 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS371786580 SEC23B Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II
RS371786754 TMC6 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS371786839 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS371788033 CERKL Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Acute myeloid leukemia
RS371788070 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS371789769 CLTCL1 Health Risk Conflicting classifications of pathogenicity CLTCL1-related disorder, CLTCL1-related disorder
RS371789974 FCSK Health Risk Conflicting classifications of pathogenicity —
RS371789976 PEX13 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
RS371792364 TUSC3 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation, Intellectual disability
RS371793819 LONP1 Health Risk Conflicting classifications of pathogenicity CODAS syndrome, CODAS syndrome
RS371794611 D2HGDH Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 1, Inborn genetic diseases
RS371794750 WDR73 Health Risk Likely pathogenic Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 1
RS371795413 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS371795896 TMEM147 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with facial dysmorphism, absent language
RS371796422 AP3D1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371797130 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS371797765 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS371799686 CDAN1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type I
RS371799801 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS371799971 ACTA1 Health Risk Conflicting classifications of pathogenicity Actin accumulation myopathy, Actin accumulation myopathy
RS371800454 SIGLEC14 Health Risk Conflicting classifications of pathogenicity —
RS371800843 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS371800860 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS371802736 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Myopathy
RS371802902 POLR1C Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 11, Hypomyelinating leukodystrophy 11
RS371803356 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS371803409 THADA Health Risk Conflicting classifications of pathogenicity THADA-related disorder, Meniere disease
RS371804152 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371805004 IMPG2 Health Risk Conflicting classifications of pathogenicity —
RS371805226 TNFRSF13C Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS371807358 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS371807668 MYLK2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
RS371807951 HNF1A Health Risk Pathogenic Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS371811409 UBIAD1 Health Risk Likely pathogenic Schnyder crystalline corneal dystrophy, Schnyder crystalline corneal dystrophy
RS371813268 GNPTAB Health Risk Conflicting classifications of pathogenicity Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS371814184 MYLK Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Aortic aneurysm
RS371814322 ALG12 Health Risk Conflicting classifications of pathogenicity ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS371816204 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS371816429 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS371816658 FBN3 Health Risk Conflicting classifications of pathogenicity —
RS371816961 CNTN2 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial adult myoclonic
RS371817372 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS371817534 COL4A4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Alport syndrome
RS371818099 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS371818433 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS371818740 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Congenital myasthenic syndrome 4A
RS371818788 NBEA Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without early-onset generalized epilepsy, Inborn genetic diseases
RS371818894 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS371819898 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis 4
RS371821218 TTN Health Risk Conflicting classifications of pathogenicity —
RS371821589 FAT4 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS371821873 POMT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS371822998 FANCG Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS371823710 TBCD Health Risk Conflicting classifications of pathogenicity —
RS371825362 DSPP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371825363 CYP17A1 Health Risk Pathogenic/Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS371825581 PHEX Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, PHEX-related disorder
RS371825684 PDGFB Health Risk Conflicting classifications of pathogenicity Idiopathic basal ganglia calcification 1, Familial meningioma
RS371825849 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS371826762 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS371826887 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS371828447 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371828469 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS371830478 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS371830740 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Heterotopia
RS371830968 ISCA2 Health Risk Conflicting classifications of pathogenicity ISCA2-related disorder, ISCA2-related disorder
RS371831198 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS371831239 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS371831553 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS371832787 TYK2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, TYK2-related disorder
RS371832808 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS371832909 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS371833362 ETV2 Health Risk Likely pathogenic Abnormal vertebral morphology, Hypoplastic left heart syndrome
RS371833544 CEP290 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 6, Leber congenital amaurosis 10
RS371834047 SERPING1 Health Risk Pathogenic —
RS371834330 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS371834340 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS371834462 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS371834726 PNKP Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures
RS371834997 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS371835359 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Type 2 collagenopathy
RS371835751 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 3
RS371837210 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS371839875 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS371839994 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Autism
RS371840514 ATP7B Health Risk Likely pathogenic Wilson disease, ATP7B-related disorder
RS371841411 DYSF Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS371841573 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS371842822 FGB Health Risk Conflicting classifications of pathogenicity Congenital afibrinogenemia, Congenital afibrinogenemia
RS371843272 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
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