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
RS375063863 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS375064902 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS375065108 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Pulmonary arterial hypertension
RS375066516 COQ2 Health Risk Conflicting classifications of pathogenicity —
RS375067750 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy
RS375068828 NEDD4L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375070421 TTBK2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375070639 MAK Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 62, Retinitis pigmentosa 62
RS375071274 DAG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS375071383 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS375071568 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Distal myopathy with anterior tibial onset
RS375071944 ADNP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375072557 CRB2 Health Risk Pathogenic Ventriculomegaly-cystic kidney disease, Ventriculomegaly-cystic kidney disease
RS375073677 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS375075952 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS375076522 TBX3 Health Risk Conflicting classifications of pathogenicity Ulnar-mammary syndrome, TBX3-related disorder
RS375076580 COL5A1 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome, Ehlers-Danlos syndrome
RS375076970 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS375077588 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS375077719 PCDH15 Health Risk Conflicting classifications of pathogenicity —
RS375077956 SLC45A2 Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
RS375078473 HMBS Health Risk Conflicting classifications of pathogenicity Acute intermittent porphyria, Acute intermittent porphyria
RS375079065 NAGS Health Risk Likely pathogenic Hyperammonemia, type III
RS375079402 TRDN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS375079576 DCTN1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS375080866 ROR2 Health Risk Conflicting classifications of pathogenicity —
RS375082054 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS375082207 SFTPA2 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease 2, Interstitial lung disease 2
RS375083192 GABRB2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Developmental and epileptic encephalopathy 92
RS375083775 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS375084663 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS375085032 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS375087150 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome 1, Knobloch syndrome 1
RS375088091 NFKB1 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS375088539 SLC52A2 Health Risk Pathogenic Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 1
RS375090196 MUC1 Health Risk Conflicting classifications of pathogenicity Tubulointerstitial kidney disease, autosomal dominant
RS375090704 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS375091787 HOGA1 Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS375093230 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS375093519 HPS5 Health Risk Likely pathogenic —
RS375094000 ASXL1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS375094592 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS375096209 AIPL1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 4, Retinitis pigmentosa
RS375096245 KDM6A Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 2, Kabuki syndrome 2
RS375097273 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS375097381 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS375097553 RNF213 Health Risk Conflicting classifications of pathogenicity —
RS375097777 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, UNC13D-related disorder
RS375098009 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS375098933 LRP1 Health Risk Conflicting classifications of pathogenicity —
RS375098989 PTCH1 Health Risk Conflicting classifications of pathogenicity Craniosynostosis syndrome, Gorlin syndrome
RS375099581 SLC19A3 Health Risk Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS375100061 LTBP4 Health Risk Conflicting classifications of pathogenicity Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
RS375100066 NSDHL Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Inborn genetic diseases
RS375102032 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS375102589 KNL1 Health Risk Conflicting classifications of pathogenicity Microcephaly 4, primary
RS375103237 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS375103550 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS375103824 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS375105159 PMP22 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS375107873 ATP2B4 Health Risk Conflicting classifications of pathogenicity —
RS375108263 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17
RS375110174 NMNAT1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 9, Retinal dystrophy
RS375111758 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS375113334 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS375113643 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS375113759 SI Health Risk Likely pathogenic Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS375114529 WT1 Health Risk Conflicting classifications of pathogenicity Meacham syndrome, Wilms tumor 1
RS375116558 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS375116795 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Cutis laxa
RS375117626 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS375118713 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS375118721 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS375119074 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS375119596 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Inborn genetic diseases
RS375120372 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Myopathy
RS375120544 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS375120716 PKHD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Polycystic kidney disease 4
RS375120743 NDUFS7 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS375121203 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS375122657 SETD5 Health Risk Conflicting classifications of pathogenicity —
RS375122809 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Inborn genetic diseases
RS375124752 ABCA3 Health Risk Conflicting classifications of pathogenicity Hereditary pulmonary alveolar proteinosis, Interstitial lung disease due to ABCA3 deficiency
RS375124784 COL5A2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS375125172 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS3751257 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS375125948 CREBBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Rubinstein-Taybi syndrome
RS375126841 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome, INPP5E-related disorder
RS375127933 BICRA Health Risk Conflicting classifications of pathogenicity —
RS375128684 CDAN1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type I
RS375129361 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS375129675 PPA2 Health Risk Conflicting classifications of pathogenicity Sudden cardiac failure, infantile
RS375130478 KIF1B Health Risk Conflicting classifications of pathogenicity Neuroblastoma, Charcot-Marie-Tooth disease type 2
RS375130935 EEF2 Health Risk Conflicting classifications of pathogenicity —
RS375131360 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS375131519 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS375131638 TTI1 Health Risk Likely pathogenic Abnormal brain morphology, Neurodevelopmental disorder with microcephaly and movement abnormalities
RS375132134 CRPPA Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS375132671 IFT43 Health Risk Conflicting classifications of pathogenicity —
RS375133059 NR2E3 Health Risk Pathogenic/Likely pathogenic Enhanced S-cone syndrome, Retinitis pigmentosa
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