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
RS1759309075 ALDH5A1 Health Risk Likely pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS1759331986 TBCK Health Risk Pathogenic —
RS1759333124 TBCK Health Risk Pathogenic —
RS1759337270 TBCK Health Risk Likely pathogenic Hypotonia, infantile
RS1759345923 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1759346639 FBXW11 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental, jaw
RS1759354150 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1759357763 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1759359916 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1759383581 DSP Health Risk Pathogenic Cardiomyopathy, Cardiomyopathy
RS1759385935 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1759396933 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1759401240 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1759404954 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS1759410564 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS1759417776 DSP Health Risk Pathogenic Cardiomyopathy, Cardiomyopathy
RS1759419529 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS1759421816 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1759426108 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1759474600 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1759475221 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1759478436 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1759482084 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1759489185 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1759489644 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1759501217 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1759510200 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1759514836 RIPK1 Health Risk Pathogenic Immunodeficiency 57, Immunodeficiency 57
RS1759522381 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1759527886 DSP Health Risk Pathogenic Cardiovascular phenotype, Cardiomyopathy
RS1759529582 DSP Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS1759533568 DSP Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1759546885 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1759549616 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS1759550773 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS1759551453 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS1759564374 DSP Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS1759580297 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1759581554 DSP Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS1759594471 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1759606062 DSP Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1759610067 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1759621325 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, dilated
RS1759623444 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1759660930 IL7R Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS1759788196 IL7R Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS1759856050 ALDH5A1 Health Risk Likely pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS1759885769 NSD1 Health Risk Likely pathogenic —
RS17599091 MTTP Health Risk Pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS1759915032 RIPK1 Health Risk Pathogenic Immunodeficiency 57, Immunodeficiency 57
RS1759919516 RIPK1 Health Risk Likely pathogenic —
RS1759948859 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS1759964009 MEF2C Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS1759968705 MEF2C Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS1759969389 IL7R Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS1759976661 ALDH5A1 Health Risk Likely pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS1759979356 ALDH5A1 Health Risk Likely pathogenic Succinate-semialdehyde dehydrogenase deficiency, Inborn genetic diseases
RS1759998554 SLC12A2 Health Risk Pathogenic Delpire-McNeill syndrome, Delpire-McNeill syndrome
RS1760056582 NSD1 Health Risk Conflicting classifications of pathogenicity —
RS1760057409 NSD1 Health Risk Pathogenic —
RS1760058101 NSD1 Health Risk Pathogenic —
RS1760062897 NSD1 Health Risk Pathogenic —
RS1760068807 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS1760069281 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS1760184679 RASA1 Health Risk Likely pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS1760265136 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS1760269359 PDGFRB Health Risk Conflicting classifications of pathogenicity Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome, Acroosteolysis-keloid-like lesions-premature aging syndrome
RS1760270922 PDGFRB Health Risk Pathogenic Infantile myofibromatosis, Infantile myofibromatosis
RS1760271956 PDGFRB Health Risk Pathogenic Infantile myofibromatosis, Infantile myofibromatosis
RS1760272027 PDGFRB Health Risk Pathogenic Infantile myofibromatosis, Infantile myofibromatosis
RS17602729 AMPD1 Health Risk Conflicting classifications of pathogenicity; other Muscle AMP deaminase deficiency, AMPD1-related disorder
RS1760301005 PDGFRB Health Risk Pathogenic Infantile myofibromatosis, Infantile myofibromatosis
RS1760301176 PDGFRB Health Risk Conflicting classifications of pathogenicity Infantile myofibromatosis, Acroosteolysis-keloid-like lesions-premature aging syndrome
RS1760382600 PDE6A Health Risk Likely pathogenic —
RS1760406652 PDGFRB Health Risk Pathogenic Infantile myofibromatosis, Infantile myofibromatosis
RS1760419273 POU4F3 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15
RS1760421077 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1760429451 POU4F3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15
RS1760430376 POU4F3 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15
RS1760431636 POU4F3 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15
RS1760439649 CYFIP2 Health Risk Conflicting classifications of pathogenicity —
RS1760440151 GRM6 Health Risk Pathogenic —
RS1760440801 CYFIP2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 65
RS1760445854 CTNNA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1760460898 CTNNA1 Health Risk Pathogenic —
RS1760465096 CTNNA1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS1760472413 CTNNA1 Health Risk Pathogenic —
RS1760476950 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1760494153 DCDC2 Health Risk Likely pathogenic Nephronophthisis 19, Nephronophthisis 19
RS1760511597 CPLANE1 Health Risk Pathogenic —
RS1760537442 HMGCR Health Risk Conflicting classifications of pathogenicity Muscular dystrophy, limb-girdle
RS1760555124 GRM6 Health Risk Pathogenic —
RS1760562691 HMGCR Health Risk Likely pathogenic Muscular dystrophy, limb-girdle
RS1760572523 GRM6 Health Risk Pathogenic —
RS1760621228 GRM6 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1760626889 SGCD Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
RS1760632389 GRM6 Health Risk Pathogenic —
RS1760720617 RIPK1 Health Risk Pathogenic Autoinflammation with episodic fever and lymphadenopathy, Autoinflammation with episodic fever and lymphadenopathy
RS1760720924 RIPK1 Health Risk Pathogenic Autoinflammation with episodic fever and lymphadenopathy, Autoinflammation with episodic fever and lymphadenopathy
RS1760743459 GRM6 Health Risk Pathogenic —
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