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
RS147164392 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS147164515 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Carcinoma of colon
RS1471653606 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1471668405 IL7R Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS147168060 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, KAT6B-related disorder
RS1471682834 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS147168542 GCM2 Health Risk Conflicting classifications of pathogenicity Familial hypoparathyroidism, Hyperparathyroidism 4
RS147168858 ARSK Health Risk Pathogenic Mucopolysaccharidosis, type 10
RS147169853 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS1471720771 AUTS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1471731176 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS147173555 KCNQ3 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS147173664 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS1471741201 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS147174580 PROM1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Cone-rod dystrophy 12
RS147174746 MTPAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147174812 NDE1 Health Risk Conflicting classifications of pathogenicity Lissencephaly 4, Lissencephaly 4
RS147175166 PLG Health Risk Conflicting classifications of pathogenicity Otitis media, susceptibility to
RS1471760048 B4GALNT1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 26
RS147176389 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS147177277 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Recessive dystrophic epidermolysis bullosa
RS1471784154 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, FRAS1-related disorder
RS1471786715 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1471793185 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS147179561 MADD Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with dysmorphic facies, impaired speech
RS1471807026 MTFMT Health Risk Pathogenic —
RS147181589 CLN8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS147181781 PDE6B Health Risk Conflicting classifications of pathogenicity —
RS147181936 TMPRSS3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS147181971 LIG4 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DCLRE1C deficiency, DNA ligase IV deficiency
RS147182054 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS147182340 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Dystonia 27
RS147183244 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS147184101 MYF6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant centronuclear myopathy, Autosomal dominant centronuclear myopathy
RS147184530 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Pyropoikilocytosis
RS147185134 HARS1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 3B, Usher syndrome type 3B
RS147185142 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS147185207 DOK7 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS147186134 CDC6 Health Risk Conflicting classifications of pathogenicity CDC6-related disorder, CDC6-related disorder
RS147186690 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal recessive Alport syndrome
RS1471867391 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1471868090 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS147187788 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N
RS147187907 MYLK Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS1471879261 COL4A1 Health Risk Conflicting classifications of pathogenicity —
RS147188438 CASZ1 Health Risk Conflicting classifications of pathogenicity —
RS147188969 ENG Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS147189162 TNFRSF11A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1471893777 SEPSECS Health Risk Pathogenic —
RS147189545 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS1471901138 UNC13D Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS147190807 ALDH3A2 Health Risk Conflicting classifications of pathogenicity Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS147190910 DACT1 Health Risk Conflicting classifications of pathogenicity Townes syndrome, Townes syndrome
RS1471912721 CEP152 Health Risk Pathogenic —
RS1471916487 BBS5 Health Risk Pathogenic Bardet-Biedl syndrome 5, Bardet-Biedl syndrome
RS147191956 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, KIF7-related disorder
RS147192139 BEST1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, BEST1-related disorder
RS147192616 CFD Health Risk Conflicting classifications of pathogenicity —
RS1471931068 MAP2K1 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS1471934686 PIEZO1 Health Risk Conflicting classifications of pathogenicity Lymphatic malformation 6, Lymphatic malformation 6
RS1471944316 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS147194762 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, ABCG8-related disorder
RS147194912 SIL1 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS1471949219 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS147195029 SALL4 Health Risk Conflicting classifications of pathogenicity Duane-radial ray syndrome, SALL4-related disorder
RS147195031 FBN1 Health Risk Pathogenic Marfan syndrome, MARFAN SYNDROME
RS1471952826 ALG1 Health Risk Pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS147195954 OTOGL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1471965041 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1471977901 F5 Health Risk Likely pathogenic Congenital factor V deficiency, Congenital factor V deficiency
RS147198241 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, EP300-related disorder
RS147198532 HNF1A Health Risk Uncertain significance/Uncertain risk allele Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS1471992838 GCK Health Risk Likely pathogenic Monogenic diabetes, Maturity-onset diabetes of the young type 2
RS147199350 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1471994576 CYP7B1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1471994744 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinal dystrophy
RS147200024 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Inborn genetic diseases
RS1472002787 HPS4 Health Risk Likely pathogenic —
RS147200808 ALDH3A2 Health Risk Conflicting classifications of pathogenicity Sjögren-Larsson syndrome, Inborn genetic diseases
RS147201199 GAD1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Inborn genetic diseases
RS147201727 SZT2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 18
RS1472028496 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS147202936 COL2A1 Health Risk Conflicting classifications of pathogenicity COL2A1-related disorder, COL2A1-related disorder
RS1472033145 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1472037685 DSG2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS147204600 ERBB2 Health Risk Conflicting classifications of pathogenicity Glioma susceptibility 1, Ovarian cancer
RS147204644 TNR Health Risk Conflicting classifications of pathogenicity Parkinson disease, Inborn genetic diseases
RS1472048923 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS1472049250 ADGRV1 Health Risk Pathogenic —
RS147204964 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Noonan syndrome and Noonan-related syndrome
RS147205617 SCN3B Health Risk Conflicting classifications of pathogenicity Death in infancy, Cardiovascular phenotype
RS147205930 SLC19A3 Health Risk Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease, SLC19A3-related disorder
RS147206318 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS147206351 FBN3 Health Risk Conflicting classifications of pathogenicity FBN3-related disorder, FBN3-related disorder
RS1472068665 CC2D2A Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS147207100 TTN-AS1;TTN Health Risk Conflicting classifications of pathogenicity Abnormality of neuronal migration, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS147207752 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS147208348 SLC26A2 Health Risk Conflicting classifications of pathogenicity Atelosteogenesis type II, Sulfate transporter-related osteochondrodysplasia
RS147208526 LAMA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMA3-related disorder
RS1472087421 ALOXE3 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3
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