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
RS1561671507 PDE6A Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1561672504 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1561673120 F13A1 Health Risk Pathogenic Hereditary factor XIII deficiency disease, Hereditary factor XIII deficiency disease
RS1561679951 PDE6A Health Risk Pathogenic —
RS1561680487 SPINK5 Health Risk Pathogenic Netherton syndrome, Netherton syndrome
RS1561680649 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1561684604 SPINK5 Health Risk Pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS1561685366 SPINK5 Health Risk Conflicting classifications of pathogenicity Netherton syndrome, Ichthyosis linearis circumflexa
RS1561686893 DSP Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS1561686960 SPINK5 Health Risk Pathogenic Netherton syndrome, Netherton syndrome
RS1561687796 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1561690319 DSP Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS1561690890 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1561693779 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1561693806 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1561694696 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1561695740 SPINK5 Health Risk Pathogenic Netherton syndrome, Netherton syndrome
RS1561696970 DSP Health Risk Pathogenic Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 8
RS1561697181 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1561697465 MEF2C Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS1561698345 DSP Health Risk Likely pathogenic —
RS1561698356 MEF2C Health Risk Pathogenic —
RS1561698362 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1561698714 DSP Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS1561698750 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1561701382 SPINK5 Health Risk Likely pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS1561701401 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1561701721 DSP Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS1561701900 ADGRV1 Health Risk Pathogenic —
RS1561702549 DSP Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS1561702640 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1561702771 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1561703331 DSP Health Risk Pathogenic/Likely pathogenic 6 conditions, Familial isolated arrhythmogenic right ventricular dysplasia
RS1561703363 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1561703628 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1561703922 DSP Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS1561704475 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1561706189 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS1561709465 TFAP2A Health Risk Likely pathogenic —
RS1561712232 ADGRV1 Health Risk Pathogenic —
RS1561716242 GEMIN5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1561717823 CPLANE1 Health Risk Likely pathogenic —
RS1561733474 PPP2CA Health Risk Likely pathogenic Houge-Janssens syndrome 3, Houge-Janssens syndrome 3
RS1561734750 PPP2CA Health Risk Pathogenic Houge-Janssens syndrome 3, Houge-Janssens syndrome 3
RS1561734790 PPP2CA Health Risk Likely pathogenic Houge-Janssens syndrome 3, Houge-Janssens syndrome 3
RS1561737008 PPP2CA Health Risk Pathogenic/Likely pathogenic Houge-Janssens syndrome 3, Houge-Janssens syndrome 3
RS1561740143 ADGRV1 Health Risk Likely pathogenic Usher syndrome, Usher syndrome type 2C
RS1561743757 SGCD Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
RS1561755265 DCDC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1561758622 FBN2 Health Risk Pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS1561764569 SH3TC2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C
RS1561764735 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1561764925 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1561765311 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1561765688 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS1561770179 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4
RS1561770798 SH3TC2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1561772403 RIPK1 Health Risk Pathogenic/Likely pathogenic IL10-related early-onset inflammatory bowel disease, Inborn error of immunity
RS1561774878 ADGRV1 Health Risk Pathogenic —
RS1561780980 RIPK1 Health Risk Pathogenic IL10-related early-onset inflammatory bowel disease, Inborn error of immunity
RS1561781989 SYNGAP1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Intellectual disability
RS1561783309 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1561783623 ADGRV1 Health Risk Pathogenic —
RS1561784553 SYNGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 5
RS1561784560 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1561784687 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1561785003 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1561785045 SYNGAP1 Health Risk Likely pathogenic Inborn genetic diseases, Intellectual disability
RS1561785326 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1561785573 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS1561786928 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1561787158 DCDC2 Health Risk Pathogenic —
RS1561787690 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1561787845 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1561788965 SYNGAP1 Health Risk Likely pathogenic —
RS1561788984 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1561789215 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1561789313 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1561789701 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS1561789828 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS1561790371 ADGRV1 Health Risk Likely pathogenic Usher syndrome type 2C, Usher syndrome type 2C
RS1561792535 FANCE Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS1561792565 KDM3B Health Risk Likely pathogenic KDM3B-related disorder, KDM3B-related disorder
RS1561792945 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS1561793115 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS1561793211 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS1561793219 PURA Health Risk Pathogenic/Likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS1561793268 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS1561793272 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS1561793336 PURA Health Risk Likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS1561793344 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS1561796122 KDM3B Health Risk Pathogenic/Likely pathogenic Neurodevelopmental delay, KDM3B-related disorder
RS1561799392 SIL1 Health Risk Pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS1561804096 LARS1 Health Risk Likely pathogenic —
RS1561805651 TUBB2A Health Risk Likely pathogenic —
RS1561805689 ADGRV1 Health Risk Likely pathogenic Usher syndrome type 2C, Usher syndrome type 2C
RS1561822364 RUNX2 Health Risk Pathogenic Cleidocranial dysostosis, Cleidocranial dysostosis
RS1561822760 SLC26A2 Health Risk Pathogenic Multiple epiphyseal dysplasia type 4, Multiple epiphyseal dysplasia type 4
RS1561823098 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 4B
RS1561824498 MEF2C Health Risk Pathogenic Autism spectrum disorder, Neurodevelopmental disorder with hypotonia
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