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
RS2056117839 UPF3B Health Risk Pathogenic —
RS2056118338 SETD1A Health Risk Pathogenic Epilepsy, early-onset
RS2056119926 UPF3B Health Risk Likely pathogenic Intellectual disability, Syndromic X-linked intellectual disability 14
RS2056124989 SETD1A Health Risk Pathogenic Neurodevelopmental disorder with speech impairment and dysmorphic facies, Neurodevelopmental disorder with speech impairment and dysmorphic facies
RS2056139851 SETD1A Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with speech impairment and dysmorphic facies, Neurodevelopmental disorder with speech impairment and dysmorphic facies
RS2056144779 SETD1A Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2056158149 SETD1A Health Risk Likely pathogenic Neurodevelopmental disorder with speech impairment and dysmorphic facies, Epilepsy
RS2056165149 SETD1A Health Risk Likely pathogenic Epilepsy, early-onset
RS2056190516 ARHGAP35 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2056193902 CACNA1A Health Risk Likely pathogenic —
RS2056249919 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2056279996 TCF4 Health Risk Pathogenic —
RS2056303175 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS2056308423 TCF4 Health Risk Pathogenic —
RS2056315077 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2056319448 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Ventricular tachycardia
RS2056330918 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2056360507 SETD1A Health Risk Pathogenic Neurodevelopmental disorder with speech impairment and dysmorphic facies, Neurodevelopmental disorder with speech impairment and dysmorphic facies
RS2056362368 ANKRD26 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2056406264 RNF113A Health Risk Pathogenic Trichothiodystrophy 5, nonphotosensitive
RS2056442109 TRIP11 Health Risk Pathogenic Achondrogenesis, type IA
RS2056443833 CACNA1A Health Risk Pathogenic —
RS2056447170 TRIP11 Health Risk Pathogenic Achondrogenesis, type IA
RS2056449254 TRIP11 Health Risk Likely pathogenic Achondrogenesis, type IA
RS2056451263 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2056452818 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
RS2056453893 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2056453972 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2056458051 RUNX1 Health Risk Likely pathogenic Myelodysplasia, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2056470234 HSD3B7 Health Risk Likely pathogenic Congenital bile acid synthesis defect 1, Congenital bile acid synthesis defect 1
RS2056504499 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2056510928 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2056551129 KIF1A Health Risk Likely pathogenic Intellectual disability, autosomal dominant 9
RS2056552812 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS2056558371 KIF1A Health Risk Likely pathogenic Intellectual disability, autosomal dominant 9
RS2056562900 KIF1A Health Risk Pathogenic Neuropathy, hereditary sensory
RS2056572481 STX1B Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2056573081 STX1B Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS2056573240 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2056574456 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Inborn genetic diseases
RS2056577059 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2056578041 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2056581815 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2056596353 STX1B Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS2056596896 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2056599363 ANKRD26 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2056600391 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Episodic ataxia type 2
RS2056602254 CACNA1A Health Risk Pathogenic —
RS2056602306 CACNA1A Health Risk Pathogenic —
RS2056602388 STX1B Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS2056613965 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2056619632 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2056624422 STX1B Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS2056625682 STX1B Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS2056626672 STX1B Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS2056640828 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS2056668331 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS2056674737 CACNA1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 42
RS2056711749 BRF1 Health Risk Likely pathogenic —
RS2056733058 CACNA1A Health Risk Pathogenic —
RS2056733130 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2056766498 CACNA1A Health Risk Pathogenic/Likely pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2056767062 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS2056767185 NEUROD2 Health Risk Likely pathogenic —
RS2056767982 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS2056768058 CACNA1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS2056812732 ADAMTS18 Health Risk Pathogenic —
RS2056816939 MYT1L Health Risk Conflicting classifications of pathogenicity Intellectual disability, Inborn genetic diseases
RS2056843518 MYT1L Health Risk Pathogenic Intellectual disability, autosomal dominant 39
RS2056846558 TTN Health Risk Likely pathogenic Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2056867686 LOC126806426;TTN;TTN-AS1 Health Risk Likely pathogenic —
RS2056871742 TRIP11 Health Risk Pathogenic Achondrogenesis, type IA
RS2056901001 TRIP11 Health Risk Pathogenic Connective tissue disorder, Connective tissue disorder
RS2057009434 TRIP11 Health Risk Likely pathogenic Connective tissue disorder, Connective tissue disorder
RS2057015875 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2057017245 TCF12 Health Risk Likely pathogenic —
RS2057026455 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2057028176 TRIP11 Health Risk Pathogenic Achondrogenesis, type IA
RS2057088963 DOCK8 Health Risk Pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS2057094 PADI2 Health Risk association Rheumatoid arthritis, Abnormal pulmonary interstitial morphology
RS2057097206 TCF4 Health Risk Pathogenic —
RS2057107899 DOCK8 Health Risk Pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS2057114964 TRIP11 Health Risk Likely pathogenic Achondrogenesis, type IA
RS2057135958 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2057136334 CACNA1A Health Risk Pathogenic —
RS2057168559 CACNA1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 42
RS2057189303 GRIP1 Health Risk Pathogenic Fraser syndrome 3, Fraser syndrome 3
RS2057249899 TCAP Health Risk Pathogenic Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy
RS2057250066 TCAP Health Risk Pathogenic Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy
RS2057353041 PGAP3 Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4
RS2057353122 PGAP3 Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4
RS2057367803 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2057370325 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS2057372365 CACNA1A Health Risk Likely pathogenic Migraine, familial hemiplegic
RS2057373332 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2057392733 BCKDK Health Risk Pathogenic Branched-chain keto acid dehydrogenase kinase deficiency, Branched-chain keto acid dehydrogenase kinase deficiency
RS2057404166 BCKDK Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2057404615 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2057404744 CACNA1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 42
RS2057418362 DCC Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
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