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
RS200434921 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS200435099 OTOF Health Risk Conflicting classifications of pathogenicity —
RS200435327 SPTBN2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 5, Autosomal recessive spinocerebellar ataxia 14
RS200435702 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS200435861 CLN8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neuronal ceroid lipofuscinosis
RS200435907 EFHC1 Health Risk Conflicting classifications of pathogenicity Absence seizure, Myoclonic epilepsy
RS200435937 PEPD Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS200435950 MME Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T
RS200436565 TBX4 Health Risk Pathogenic —
RS200437377 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS200437744 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
RS200437752 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS200438009 DKC1 Health Risk Likely risk allele Pulmonary fibrosis, Pulmonary fibrosis
RS200438116 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS200438344 POLH Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum variant type, Inborn genetic diseases
RS200438675 PDHX Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E3-binding protein deficiency, PDHX-related disorder
RS200438705 WNK4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200438844 HADHA Health Risk Conflicting classifications of pathogenicity Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS200439661 FAM47A Health Risk Conflicting classifications of pathogenicity —
RS200440128 FBXL4 Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 13, Inborn genetic diseases
RS200440156 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS200440257 COQ8A Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS200440467 AP4S1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 52, Spastic paraplegia
RS200440528 TREX1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, TREX1-related disorder
RS200440536 ALDH1A3 Health Risk Pathogenic —
RS200440641 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS200440843 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Inborn genetic diseases
RS200441006 IGF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Beckwith-Wiedemann syndrome
RS200441305 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS200441797 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy
RS200441923 NIN Health Risk Conflicting classifications of pathogenicity Seckel syndrome 7, Seckel syndrome 7
RS200441929 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Amenorrhea
RS200441930 GNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-D
RS200442058 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS200442489 MAP2K1 Health Risk Conflicting classifications of pathogenicity RASopathy, Melorheostosis
RS200443042 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Woolly hair-skin fragility syndrome
RS200443208 RBMXL3 Health Risk Conflicting classifications of pathogenicity —
RS200443318 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS200443479 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS200443615 TTC7A Health Risk Conflicting classifications of pathogenicity Multiple gastrointestinal atresias, Inborn genetic diseases
RS200443942 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Alport syndrome
RS200444084 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS200444143 GAMT Health Risk Pathogenic Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase
RS200444162 CPLANE1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 17, Orofaciodigital syndrome type 6
RS200444292 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Inborn genetic diseases
RS200444441 KCNH1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200444639 KCNV2 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
RS200445104 GDF5 Health Risk Conflicting classifications of pathogenicity GDF5-related disorder, Inborn genetic diseases
RS200445152 CC2D1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 3
RS200445211 NODAL Health Risk Conflicting classifications of pathogenicity Heterotaxy, visceral
RS200445568 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS200445799 NDUFS6 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS200446050 MACF1 Health Risk Conflicting classifications of pathogenicity Lissencephaly 9 with complex brainstem malformation, Inborn genetic diseases
RS200446215 TBC1D4 Health Risk Conflicting classifications of pathogenicity —
RS200446340 HIVEP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200446680 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS200446880 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Polycystic kidney disease
RS200446881 CLRN1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 3, Usher syndrome type 3
RS200447622 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS200447686 TTN Health Risk Conflicting classifications of pathogenicity —
RS200447906 COL13A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital myasthenic syndrome 19
RS200447944 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5C
RS200448007 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS200448421 IDUA Health Risk Likely pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS200448428 RPGRIP1L Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS200448967 ALOX12B Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS200449040 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS200449169 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Joubert syndrome 17
RS200449378 HPS5 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome
RS200449873 CEP250 Health Risk Conflicting classifications of pathogenicity —
RS200450022 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS200450537 SECISBP2 Health Risk Pathogenic Thyroid hormone metabolism, abnormal 1
RS200450557 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal recessive Alport syndrome
RS200450605 CEP120 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases
RS200450636 CC2D1A Health Risk Likely pathogenic Inborn genetic diseases, Intellectual disability
RS200450676 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS200450773 DDC Health Risk Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase, Global developmental delay
RS200450866 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS200450941 AARS2 Health Risk Pathogenic —
RS200451098 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Rare genetic deafness
RS200451158 ACSL4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ACSL4-related disorder
RS200451408 SI Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Sucrase-isomaltase deficiency
RS200451612 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS200451694 SGCD Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases
RS200452448 CACNB2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome 4
RS200452908 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS200453385 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS200453837 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Inborn genetic diseases
RS200454015 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS200454070 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia
RS200454446 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS200454461 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS200454865 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Nephronophthisis
RS200455203 SLC26A4 Health Risk Pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS200455487 FLII Health Risk Conflicting classifications of pathogenicity —
RS200455569 MPDZ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200455644 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS200455852 ASAH1 Health Risk Pathogenic Spinal muscular atrophy-progressive myoclonic epilepsy syndrome, ASAH1-related disorders
RS200456053 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, MYO15A-related disorder
RS200456170 WASHC5 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Ritscher-Schinzel syndrome
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