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
RS2144715315 STAT3 Health Risk Likely pathogenic Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS2144716942 - Health Risk Pathogenic Autosomal recessive osteopetrosis 7, Autosomal recessive osteopetrosis 7
RS2144718631 CIITA Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS2144719500 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS2144719508 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS2144723074 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS2144723103 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS2144723125 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS2144723164 CIITA Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS2144723594 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS2144723620 SLC12A3 Health Risk Pathogenic —
RS2144725957 CACNA1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 42
RS2144726142 CACNA1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 42
RS2144726226 CACNA1A Health Risk Pathogenic —
RS2144726274 CACNA1A Health Risk Pathogenic —
RS2144728494 CIITA Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS2144729905 SLC12A3 Health Risk Pathogenic —
RS2144730439 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS2144733006 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS2144733156 SLC12A3 Health Risk Pathogenic —
RS2144735303 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2144738731 GH1 Health Risk Pathogenic Autosomal dominant isolated somatotropin deficiency, Autosomal dominant isolated somatotropin deficiency
RS2144739370 GH1 Health Risk Pathogenic Autosomal dominant isolated somatotropin deficiency, Autosomal dominant isolated somatotropin deficiency
RS2144739380 GH1 Health Risk Pathogenic Autosomal dominant isolated somatotropin deficiency, Autosomal dominant isolated somatotropin deficiency
RS2144739391 GH1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant isolated somatotropin deficiency, GH1-related disorder
RS2144742205 NDUFV2 Health Risk Pathogenic —
RS2144742222 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS2144742329 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS2144742517 SGSH Health Risk Likely pathogenic —
RS2144743127 CIITA Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS2144743381 CIITA Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS2144744609 ADAMTS18 Health Risk Pathogenic —
RS2144744755 ADAMTS18 Health Risk Pathogenic —
RS2144745003 CIITA Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS2144748104 SLC12A3 Health Risk Likely pathogenic —
RS2144748225 CACNA1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 42
RS2144748340 CACNA1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 42
RS2144748419 CACNA1A Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2144748721 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS2144749282 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS2144749648 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS2144752958 USH1G Health Risk Pathogenic —
RS2144753776 USH1G Health Risk Pathogenic —
RS2144754031 USH1G Health Risk Pathogenic Usher syndrome type 1G, Usher syndrome type 1G
RS2144754179 USH1G Health Risk Pathogenic —
RS2144754863 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS2144755046 ADGRL1 Health Risk Pathogenic Attention deficit hyperactivity disorder, Global developmental delay
RS2144755152 USH1G Health Risk Pathogenic Usher syndrome type 1G, Usher syndrome type 1G
RS2144755466 USH1G Health Risk Pathogenic —
RS2144755488 USH1G Health Risk Pathogenic —
RS2144758193 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2144761828 DLL3 Health Risk Pathogenic Spondylocostal dysostosis 1, autosomal recessive
RS2144761991 FOXJ1 Health Risk Pathogenic —
RS2144766556 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS2144767026 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS2144767166 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS2144767252 CACNA1A Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2144767386 CACNA1A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 42
RS2144767845 STAT3 Health Risk Likely pathogenic —
RS2144769768 CIITA Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS2144772233 SLC12A3 Health Risk Likely pathogenic —
RS2144772485 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS2144772551 SLC12A3 Health Risk Pathogenic —
RS2144772827 ODAD3 Health Risk Pathogenic Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30
RS2144772838 CACNA1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 42
RS2144773045 CACNA1A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 52
RS2144773136 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Inborn genetic diseases
RS2144773503 SCN4A Health Risk Likely pathogenic SCN4A-related non-dystrophic myotonia, SCN4A-related non-dystrophic myotonia
RS2144773624 STAT3 Health Risk Likely pathogenic Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS2144773661 STAT3 Health Risk Pathogenic Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS2144773766 STAT3 Health Risk Likely pathogenic —
RS2144773878 SCN4A Health Risk Likely pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS2144774799 SCN4A Health Risk Pathogenic/Likely pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS2144774834 SCN4A Health Risk Likely pathogenic Hypokalemic periodic paralysis, type 2
RS2144778323 STAT3 Health Risk Pathogenic Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS2144778785 SCN4A Health Risk Likely pathogenic —
RS2144779293 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS2144779553 SCN4A Health Risk Likely pathogenic SCN4A-related non-dystrophic myotonia, SCN4A-related non-dystrophic myotonia
RS2144780130 ODAD3 Health Risk Likely pathogenic Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30
RS2144782598 SCN4A Health Risk Pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS2144786506 SCN4A Health Risk Pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS2144788058 PIEZO2 Health Risk Likely pathogenic Hypotonia, Hypotonia
RS2144788151 DSC2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular cardiomyopathy
RS2144788632 DSC2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS2144790591 INSR Health Risk Likely pathogenic —
RS2144791672 DSC2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS2144793155 SLC12A3 Health Risk Pathogenic —
RS2144793242 SCN4A Health Risk Likely pathogenic Paramyotonia congenita of Von Eulenburg, Paramyotonia congenita of Von Eulenburg
RS2144798676 SCN4A Health Risk Pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS2144798704 SCN4A Health Risk Likely pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS2144799555 DSC2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS2144800227 DSC2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS2144800871 CIITA Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS2144807765 PRKCSH Health Risk Likely pathogenic Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS2144810189 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2144810359 HID1 Health Risk Likely pathogenic See cases, See cases
RS2144810362 FLCN Health Risk Pathogenic/Likely pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS2144812065 HID1 Health Risk Pathogenic —
RS2144812824 DSC2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS2144813778 INSR Health Risk Likely pathogenic —
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