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
RS2144814453 DSC2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS2144818920 DSC2 Health Risk Pathogenic —
RS2144822009 PRKCSH Health Risk Pathogenic Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS2144822115 HID1 Health Risk Pathogenic See cases, See cases
RS2144822186 PRKCSH Health Risk Likely pathogenic Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS2144823719 HERPUD1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2144826022 PRKCSH Health Risk Pathogenic Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS2144827923 STAT3 Health Risk Pathogenic/Likely pathogenic STAT3 gain of function, Hyper-IgE recurrent infection syndrome 1
RS2144828091 STAT3 Health Risk Pathogenic —
RS2144830115 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS2144831005 FLCN Health Risk Likely pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2144832509 STAT3 Health Risk Likely pathogenic STAT3 gain of function, Hyper-IgE recurrent infection syndrome 1
RS2144832772 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS2144833336 CACNA1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 52
RS2144833653 DSC2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS2144837651 PRKCSH Health Risk Likely pathogenic Polycystic liver disease 1, Polycystic liver disease 1
RS2144839089 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2144839173 DSC2 Health Risk Pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS2144839279 FLCN Health Risk Pathogenic —
RS2144839766 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2144840088 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS2144840565 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS2144842978 DSC2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS2144843645 DSC2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS2144850365 DSC2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS2144857383 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2144858986 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1
RS2144861585 LAMA3 Health Risk Pathogenic —
RS2144862529 LAMA3 Health Risk Pathogenic/Likely pathogenic —
RS2144869206 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS2144869487 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2144869904 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS2144870247 FLCN Health Risk Likely pathogenic —
RS2144870598 FLCN Health Risk Pathogenic —
RS2144871276 FLCN Health Risk Pathogenic/Likely pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS2144875247 ADAMTS18 Health Risk Likely pathogenic —
RS2144876596 ABCA7 Health Risk risk factor Alzheimer disease 9, Alzheimer disease 9
RS2144880750 CACNA1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 42
RS2144883649 ABCA7 Health Risk Likely pathogenic —
RS2144887631 CACNA1A Health Risk Pathogenic Spinocerebellar ataxia type 6, Spinocerebellar ataxia type 6
RS2144887794 BCAS3 Health Risk Likely pathogenic Global developmental delay, Global developmental delay
RS2144888569 CACNA1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 42
RS2144889289 CACNA1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 42
RS2144889523 CACNA1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 42
RS2144894376 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS2144894415 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome 1, Birt-Hogg-Dube syndrome 1
RS2144894596 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS2144895051 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2144896021 FLCN Health Risk Pathogenic/Likely pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS2144896799 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2144897134 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2144897537 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2144930944 FLCN Health Risk Likely pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2144931222 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2144931929 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2144932834 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2144933364 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2144935933 CACNA1A Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2144936041 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2144936093 CACNA1A Health Risk Likely pathogenic Spinocerebellar ataxia type 6, Spinocerebellar ataxia type 6
RS2144936148 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2144947980 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2144948439 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2144950571 INSR Health Risk Pathogenic —
RS2144952338 FLCN Health Risk Pathogenic —
RS2144952476 CACNA1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 42
RS2144953455 CACNA1A Health Risk Pathogenic —
RS2144954299 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2144954990 CACNA1A Health Risk Pathogenic —
RS2144955129 CACNA1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 42
RS2144955398 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2144956340 CACNA1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 42
RS2144956632 CACNA1A Health Risk Likely pathogenic Spinocerebellar ataxia type 6, Spinocerebellar ataxia type 6
RS2144958410 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2144971536 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2144972355 ABCA5 Health Risk Likely pathogenic See cases, See cases
RS2144972709 ZBTB7A Health Risk Pathogenic Macrocephaly, neurodevelopmental delay
RS2144973210 ZBTB7A Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2144973693 ZBTB7A Health Risk Pathogenic Macrocephaly, neurodevelopmental delay
RS2144974768 ZNF699 Health Risk Pathogenic DEGCAGS syndrome, DEGCAGS syndrome
RS2144976149 ZNF699 Health Risk Pathogenic DEGCAGS syndrome, DEGCAGS syndrome
RS2144979269 CACNA1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 52
RS2144979340 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2144980363 CACNA1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 52
RS2144980726 CACNA1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 52
RS2144980732 ZNF699 Health Risk Pathogenic DEGCAGS syndrome, DEGCAGS syndrome
RS2144980758 CACNA1A Health Risk Pathogenic/Likely pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2144981510 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS2144981630 FLCN Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS2144981673 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2144983515 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS2144983543 FLCN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS2144989820 ZBTB7A Health Risk Pathogenic Macrocephaly, neurodevelopmental delay
RS2144992092 ZBTB7A Health Risk Pathogenic Macrocephaly, neurodevelopmental delay
RS2144994347 ZBTB7A Health Risk Pathogenic Macrocephaly, neurodevelopmental delay
RS2144998926 BPTF Health Risk Likely pathogenic Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
RS2144999012 BPTF Health Risk Likely pathogenic Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
RS2145000036 BCAS3 Health Risk Pathogenic/Likely pathogenic Global developmental delay, Hengel-Maroofian-Schols syndrome
RS2145002387 CACNA1A Health Risk Likely pathogenic Neurodevelopmental abnormality, Neurodevelopmental abnormality
RS2145002415 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
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