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
RS186068075 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS1860716899 DYNC2H1 Health Risk Pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS1860730801 DYNC2H1 Health Risk Pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS1860732201 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1860732977 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1860735904 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS186077696 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS186086914 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS186089140 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS186091357 TSHR Health Risk Conflicting classifications of pathogenicity Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor
RS1860933779 DDX6 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder with impaired language and dysmorphic facies, Intellectual developmental disorder with impaired language and dysmorphic facies
RS186097329 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, DOCK8-related disorder
RS186098031 CPAMD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1860996799 ASTN2;TRIM32 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1861000401 TRIM32 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS186100602 CERKL Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1861020570 HPS5 Health Risk Pathogenic —
RS1861023658 TRIM32 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1861028831 ASTN2;TRIM32 Health Risk Pathogenic —
RS1861030837 TRIM32 Health Risk Likely pathogenic —
RS186103615 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS1861074646 SMC3 Health Risk Pathogenic Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS186110427 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS1861130719 CDH23 Health Risk Conflicting classifications of pathogenicity Hearing impairment, Hearing impairment
RS1861132418 CDH23 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1861134442 HPS5 Health Risk Pathogenic —
RS1861138703 CDH23 Health Risk Pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1861139106 HPS5 Health Risk Pathogenic —
RS1861180567 SMC3 Health Risk Likely pathogenic Intellectual disability, Cornelia de Lange syndrome 3
RS1861180589 SMC3 Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1861198554 SMC3 Health Risk Likely pathogenic —
RS186121469 SUN1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
RS1861245902 CDH23 Health Risk Pathogenic —
RS186132078 MCCC2 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS186136373 MCPH1 Health Risk Conflicting classifications of pathogenicity —
RS1861369323 SMC3 Health Risk Likely pathogenic Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS186138859 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS1861395935 SMC3 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS1861409519 SMC3 Health Risk Pathogenic Inborn genetic diseases, Cornelia de Lange syndrome 3
RS1861514878 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS186151848 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS186152567 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1861551472 SET Health Risk Likely pathogenic —
RS1861551788 SET Health Risk Likely pathogenic —
RS1861563628 PNPLA8 Health Risk Likely pathogenic Mitochondrial myopathy-lactic acidosis-deafness syndrome, Mitochondrial myopathy-lactic acidosis-deafness syndrome
RS1861593395 SET Health Risk Likely pathogenic Intellectual disability, autosomal dominant 58
RS1861625938 SET Health Risk Likely pathogenic Intellectual disability, autosomal dominant 58
RS1861627066 SET Health Risk Pathogenic —
RS1861628072 SET Health Risk Pathogenic Intellectual disability, autosomal dominant 58
RS186163798 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases
RS186173534 NAGA Health Risk Conflicting classifications of pathogenicity Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2
RS186180802 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS186181155 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Cardiovascular phenotype
RS1861836936 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS1861838658 SDHAF2 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS1861840105 RBM20 Health Risk Pathogenic Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS186184722 GYS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1861877403 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1861879186 DYNC2H1 Health Risk Likely pathogenic Heart, malformation of
RS186188610 KCNQ1 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS186193796 NSUN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS186194682 KCND3 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 19/22, Cardiovascular phenotype
RS186197620 EVC2 Health Risk Likely pathogenic Curry-Hall syndrome, Curry-Hall syndrome
RS1862000857 DLAT Health Risk Likely pathogenic Pyruvate dehydrogenase E2 deficiency, Pyruvate dehydrogenase E2 deficiency
RS1862009020 SDHAF2 Health Risk Likely pathogenic Pheochromocytoma/paraganglioma syndrome 2, Hereditary cancer-predisposing syndrome
RS1862012580 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1862017197 SDHAF2 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS186203318 AUH Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria type 1, 3-methylglutaconic aciduria type 1
RS186203343 IKBKB Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency
RS1862062786 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1862122773 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS1862141371 CEP57 Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 2, Mosaic variegated aneuploidy syndrome 2
RS186214592 FLNA Health Risk Pathogenic Oto-palato-digital syndrome, type II
RS186217898 CTH Health Risk Conflicting classifications of pathogenicity Cystathioninuria, CTH-related disorder
RS186218301 CHL1 Health Risk Conflicting classifications of pathogenicity —
RS186219647 HAX1 Health Risk Conflicting classifications of pathogenicity Kostmann syndrome, HAX1-related disorder
RS186220206 ERCC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Xeroderma pigmentosum
RS1862217660 DYNC2H1 Health Risk Pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS186224762 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS186227053 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS186229286 SLC6A3 Health Risk Conflicting classifications of pathogenicity Parkinsonism-dystonia, infantile
RS1862310921 EPS8L2 Health Risk Pathogenic —
RS186233557 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Orofacial cleft 1
RS186233985 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS186234393 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS186236339 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, CTNNA1-related disorder
RS186236478 DYNC2I2 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 11 with or without polydactyly, DYNC2I2-related disorder
RS186240214 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS186243874 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, Inborn genetic diseases
RS186244044 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS186244930 TMPRSS3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS186244950 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS186246534 SOS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS186251998 TRIM37 Health Risk Pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS186254196 KLKB1 Health Risk Pathogenic/Likely pathogenic Prekallikrein deficiency, Inherited prekallikrein deficiency
RS186255478 CARD11 Health Risk Conflicting classifications of pathogenicity BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency
RS186262357 NDST1 Health Risk Conflicting classifications of pathogenicity —
RS1862623631 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS1862623916 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS1862624167 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
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