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
RS1158166019 RERE Health Risk Pathogenic —
RS1158166238 STXBP2 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS1158167906 PLOD3 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS1158171614 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS115817750 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1158185476 RSPH3 Health Risk Pathogenic Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32
RS115818625 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Autosomal recessive limb-girdle muscular dystrophy type 2K
RS11581921 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 8, Osteogenesis Imperfecta
RS1158193880 PHKA2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS1158194122 PDHX Health Risk Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS11581962 TOR1AIP1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y
RS115819851 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS1158206003 CDK4 Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS1158231145 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1158240863 RPE65 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS115825044 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1158254994 HOXA13 Health Risk Pathogenic Hand-foot-genital syndrome, Hand-foot-genital syndrome
RS115826080 KCNJ11 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS1158267419 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1158268529 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS1158274146 ABCC2 Health Risk Pathogenic —
RS1158289237 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS1158292126 POU3F3 Health Risk Pathogenic/Likely pathogenic Snijders blok-fisher syndrome, Snijders blok-fisher syndrome
RS1158294764 PAX1 Health Risk Pathogenic Otofaciocervical syndrome 2, Otofaciocervical syndrome 2
RS1158295938 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS1158299404 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS115830086 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS115831287 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1158318107 JPH2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1158333072 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS115833794 NID2 Health Risk Conflicting classifications of pathogenicity —
RS115834468 DNAJC21 Health Risk Conflicting classifications of pathogenicity DNAJC21-related disorder, DNAJC21-related disorder
RS1158349299 CC2D2A Health Risk Pathogenic Inborn genetic diseases, Joubert syndrome
RS1158350974 COL4A4 Health Risk Conflicting classifications of pathogenicity COL4A4-related disorder, Autosomal recessive Alport syndrome
RS115835484 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS1158357314 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS115836330 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS1158367720 AP5Z1 Health Risk Likely pathogenic —
RS1158375704 TMPRSS15 Health Risk Pathogenic —
RS115839474 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS115840214 PITRM1 Health Risk Conflicting classifications of pathogenicity PITRM1-related disorder, PITRM1-related disorder
RS1158418673 CDKL5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 2
RS1158449736 TCIRG1 Health Risk Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS115845031 MYH6 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS1158454977 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1158456786 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1158457053 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS115849119 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS115849497 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
RS115850223 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS115851096 CD3G Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency
RS115853053 CFAP418 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Cone-rod dystrophy 16
RS1158534509 UBE3B Health Risk Pathogenic —
RS1158538758 SMARCA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1158542233 PKDCC Health Risk Pathogenic/Likely pathogenic Rhizomelic limb shortening with dysmorphic features, Rhizomelic limb shortening with dysmorphic features
RS1158542687 RECQL Health Risk Conflicting classifications of pathogenicity RECON progeroid syndrome, RECON progeroid syndrome
RS1158550690 LZTR1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 2, Cardiovascular phenotype
RS115855236 SREBF1 Health Risk Conflicting classifications of pathogenicity —
RS1158562606 TMPRSS3 Health Risk Likely pathogenic —
RS115857633 SAG Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Oguchi disease
RS1158582797 ERCC6 Health Risk Pathogenic —
RS1158594747 WNT7B Health Risk Pathogenic Matthew-Wood syndrome, Matthew-Wood syndrome
RS115859827 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS115859828 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, SETD2-related disorder
RS115863049 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS11586344 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Adult hypophosphatasia
RS115865111 DUOX2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1158662109 POLR3B Health Risk Likely pathogenic Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
RS115866745 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, SLX4-related disorder
RS1158674229 COL7A1 Health Risk Likely pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS1158674912 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS115867512 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS115869593 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1158713034 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1158714606 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS1158725219 BRAF Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, RASopathy
RS1158728649 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS1158730024 OCA2 Health Risk Conflicting classifications of pathogenicity —
RS1158736298 MECP2 Health Risk Conflicting classifications of pathogenicity Severe neonatal-onset encephalopathy with microcephaly, MECP2-related disorder
RS1158737546 D2HGDH Health Risk Pathogenic D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
RS1158743738 SKIC3 Health Risk Pathogenic Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1
RS1158745675 LRP5 Health Risk Conflicting classifications of pathogenicity Osteoporosis with pseudoglioma, Osteoporosis with pseudoglioma
RS115874872 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1158755002 SPTB Health Risk Pathogenic/Likely pathogenic —
RS115875661 ERCC6 Health Risk Conflicting classifications of pathogenicity —
RS1158759883 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Fumarase deficiency
RS1158763615 TRIO Health Risk Likely pathogenic —
RS115876786 ERCC6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1158768165 COL7A1 Health Risk Pathogenic —
RS1158771233 NALCN Health Risk Pathogenic Hypotonia, infantile
RS115877658 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, Inborn genetic diseases
RS115877891 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Hereditary spherocytosis type 3
RS115877951 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Hereditary spastic paraplegia 30
RS115881121 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS1158822302 PORCN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS115882574 NOBOX Health Risk Conflicting classifications of pathogenicity Premature ovarian failure 5, Inborn genetic diseases
RS115882953 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS115883468 DOK7 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS1158843179 DVL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1158854454 MYH6 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Hypertrophic cardiomyopathy 14
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