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
RS1757679644 RASA1 Health Risk Pathogenic Angioosteohypertrophic syndrome, Angioosteohypertrophic syndrome
RS1757708758 FBXW11 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental, jaw
RS1757757569 SQSTM1 Health Risk Pathogenic Neurodegeneration with ataxia, dystonia
RS1757759029 SQSTM1 Health Risk Likely pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2
RS1757804086 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS1757806263 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS1757808917 NSD1 Health Risk Pathogenic Sotos syndrome, Inborn genetic diseases
RS1757824003 DOCK2 Health Risk Likely pathogenic DOCK2 deficiency, DOCK2 deficiency
RS1757855150 GHR Health Risk Pathogenic —
RS1757862455 CSF1R Health Risk Pathogenic Brain abnormalities, neurodegeneration
RS1757883398 SQSTM1 Health Risk Conflicting classifications of pathogenicity Paget disease of bone 2, early-onset
RS1757903817 TFAP2A Health Risk Likely pathogenic Branchiooculofacial syndrome, Branchiooculofacial syndrome
RS1757906798 ADAMTS2 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS1757915135 ADAMTS2 Health Risk Pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS1757979533 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS1757998776 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS17580 SERPINA1 Health Risk Pathogenic/Pathogenic, low penetrance; other PI S, Alpha-1-antitrypsin deficiency
RS1758081491 FBXW11 Health Risk Likely pathogenic Neurodevelopmental, jaw
RS1758081729 FBXW11 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental, jaw
RS1758095789 CCNH;RASA1 Health Risk Likely pathogenic —
RS1758098122 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation 1
RS1758130321 APC Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS17582155 RORC Health Risk Conflicting classifications of pathogenicity Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, RORC-related disorder
RS1758225061 FBXW11 Health Risk Conflicting classifications of pathogenicity FBXW11-related neurodevelopmental, brain
RS1758238807 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1758242304 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1758244651 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1758253391 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1758310413 CSF1R Health Risk Likely pathogenic Brain abnormalities, neurodegeneration
RS1758316662 SQSTM1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2
RS1758351897 SQSTM1 Health Risk Pathogenic Paget disease of bone 2, early-onset
RS1758359961 SQSTM1 Health Risk Likely pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
RS1758361435 GABRG2 Health Risk Pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS1758364128 GABRG2 Health Risk Likely pathogenic Febrile seizures, familial
RS1758458149 CSF1R Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1758485358 ADGRV1 Health Risk Pathogenic —
RS1758487010 DSP Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS1758488707 ADGRV1 Health Risk Pathogenic —
RS1758488956 ADGRV1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Usher syndrome
RS1758506826 ADGRV1 Health Risk Pathogenic Usher syndrome type 2C, Usher syndrome type 2C
RS1758508357 CSF1R Health Risk Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids
RS1758534276 CTNNA1 Health Risk Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1758546944 ADGRV1 Health Risk Likely pathogenic —
RS1758558921 SQSTM1 Health Risk Pathogenic/Likely pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2
RS1758603690 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1758704447 RARS1 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 9, Hypomyelinating leukodystrophy 9
RS1758706556 RARS1 Health Risk Likely pathogenic RARS1-related disorder, RARS1-related disorder
RS1758714268 CTNNA1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS1758734763 DSP Health Risk Likely pathogenic Keratosis palmoplantaris striata 2, Keratosis palmoplantaris striata 2
RS1758740270 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1758763118 NEK1 Health Risk Pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS1758796866 NSD1 Health Risk Pathogenic —
RS1758797036 NSD1 Health Risk Pathogenic —
RS1758801009 NSD1 Health Risk Pathogenic —
RS1758826622 FARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
RS1758828554 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1758828907 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1758835134 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1758837026 GHR Health Risk Pathogenic Laron syndrome with undetectable serum GH-binding protein, Laron syndrome with undetectable serum GH-binding protein
RS1758844499 FARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
RS1758849341 ADGRV1 Health Risk Pathogenic —
RS1758864039 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1758879579 KCNN2 Health Risk Pathogenic Global developmental delay, Cerebellar ataxia
RS1758880343 KCNN2 Health Risk Likely pathogenic Motor tics, Autistic behavior
RS1758886343 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation 1
RS1758886526 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS1758896473 DSP Health Risk Likely pathogenic Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1758902024 CTNNA1 Health Risk Pathogenic —
RS1758908162 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1758912749 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1758933837 DSP Health Risk Pathogenic Cardiomyopathy, Cardiomyopathy
RS1758946466 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1758956235 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1758958794 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1758962311 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1758963105 TCOF1 Health Risk Likely pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1758971797 DSP Health Risk Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1759007844 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1759011966 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1759029929 CYFIP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1759036277 TBCK Health Risk Likely pathogenic Hypotonia, infantile
RS1759064440 DSP Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1759083657 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation 1
RS1759087658 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS1759093156 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype
RS1759142678 ADGRV1 Health Risk Pathogenic —
RS1759155407 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1759155995 ADGRV1 Health Risk Pathogenic/Likely pathogenic Febrile seizures, familial
RS1759156637 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Woolly hair-skin fragility syndrome
RS1759158249 RIPK1 Health Risk Pathogenic —
RS1759176299 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1759204244 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1759206117 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1759209975 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1759220347 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS1759240256 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1759242455 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS1759249344 ALDH5A1 Health Risk Likely pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS1759258675 DSP Health Risk Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1759308366 ALDH5A1 Health Risk Pathogenic/Likely pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
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