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
RS2144162056 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2144163316 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS2144165139 PNPO Health Risk Likely pathogenic Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
RS2144166583 PNPO Health Risk Likely pathogenic Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
RS2144167132 LAMA1 Health Risk Pathogenic —
RS2144167172 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS2144169578 DSG4 Health Risk Pathogenic Hypotrichosis 6, Hypotrichosis 6
RS2144169642 LOXHD1 Health Risk Pathogenic —
RS2144173006 KATNIP Health Risk Likely pathogenic Joubert syndrome 26, Joubert syndrome 26
RS2144177127 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS2144178477 ATP5F1A Health Risk Conflicting classifications of pathogenicity Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A
RS2144180003 LAMA1 Health Risk Pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS2144181161 DGKE Health Risk Conflicting classifications of pathogenicity Immunoglobulin-mediated membranoproliferative glomerulonephritis, Immunoglobulin-mediated membranoproliferative glomerulonephritis
RS2144182867 DLX3 Health Risk Pathogenic/Likely pathogenic Tricho-dento-osseous syndrome, Inborn genetic diseases
RS2144185746 BRIP1 Health Risk Pathogenic Gastric cancer, Familial cancer of breast
RS2144186341 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS2144187284 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2144187480 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2144187906 POLG2 Health Risk Conflicting classifications of pathogenicity —
RS2144189607 ATP5F1A Health Risk Conflicting classifications of pathogenicity ATP5F1A-related disorder, Mitochondrial complex V (ATP synthase) deficiency
RS2144193013 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS2144193104 BBS2 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS2144193240 LAMA1 Health Risk Pathogenic —
RS2144193544 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2144194297 LPIN2 Health Risk Pathogenic Majeed syndrome, Majeed syndrome
RS2144194879 MYO5B Health Risk Likely pathogenic Congenital microvillous atrophy, Congenital microvillous atrophy
RS2144199103 POLG2 Health Risk Likely pathogenic —
RS2144199518 SETBP1 Health Risk Likely pathogenic —
RS2144200458 POLG2 Health Risk Pathogenic —
RS2144202430 LAMA1 Health Risk Pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS2144204081 LPIN2 Health Risk Likely pathogenic Majeed syndrome, Majeed syndrome
RS2144209550 LPIN2 Health Risk Pathogenic Majeed syndrome, Majeed syndrome
RS2144214277 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2144214319 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2144215711 DCC Health Risk Likely pathogenic Partial agenesis of the corpus callosum, Partial agenesis of the corpus callosum
RS2144219491 LOXHD1 Health Risk Pathogenic —
RS2144219508 STAT5B Health Risk Pathogenic Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
RS2144220255 LOXHD1 Health Risk Pathogenic —
RS2144221933 LOXHD1 Health Risk Pathogenic —
RS2144229673 KATNIP Health Risk Pathogenic —
RS2144233064 USP14 Health Risk Pathogenic See cases, Distal arthrogryposis and CNS involvement
RS2144235927 LOXHD1 Health Risk Likely pathogenic —
RS2144237287 ACOX1 Health Risk Likely pathogenic Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS2144239123 PIEZO2 Health Risk Conflicting classifications of pathogenicity Cerebral palsy, Cerebral palsy
RS2144240988 ACOX1 Health Risk Pathogenic Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS2144242585 ACOX1 Health Risk Likely pathogenic Acyl-CoA oxidase deficiency, Mitchell syndrome
RS2144243196 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS2144244071 MYO5B Health Risk Pathogenic DIARRHEA 2, WITH MICROVILLUS ATROPHY AND CHOLESTASIS
RS2144246928 LOXHD1 Health Risk Pathogenic —
RS2144247310 LOXHD1 Health Risk Pathogenic —
RS2144260660 BCAS3 Health Risk Likely pathogenic Global developmental delay, Global developmental delay
RS2144267356 LOXHD1 Health Risk Pathogenic —
RS2144267361 STAT5B Health Risk Pathogenic Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
RS2144271419 ACOX1 Health Risk Pathogenic —
RS2144276285 SMAD2 Health Risk Pathogenic Loeys-Dietz syndrome 6, Loeys-Dietz syndrome 6
RS2144276592 GPR179 Health Risk Pathogenic —
RS2144276709 SMAD2 Health Risk Pathogenic —
RS2144280231 LOXHD1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS2144281783 CARD14 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Pityriasis rubra pilaris
RS2144283917 LOXHD1 Health Risk Pathogenic —
RS2144284524 LOXHD1 Health Risk Pathogenic —
RS2144287574 SMAD2 Health Risk Pathogenic —
RS2144294201 LOXHD1 Health Risk Likely pathogenic —
RS2144296728 STAT5B Health Risk Conflicting classifications of pathogenicity Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
RS2144298764 PIEZO2 Health Risk Pathogenic —
RS2144299416 SMAD2 Health Risk Pathogenic —
RS2144300077 SMAD2 Health Risk Likely pathogenic Loeys-Dietz syndrome 6, Loeys-Dietz syndrome 6
RS2144303092 KCNJ16 Health Risk Pathogenic Hypokalemic tubulopathy and deafness, Hypokalemic tubulopathy and deafness
RS2144304926 ITGA3 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS2144311662 LOXHD1 Health Risk Pathogenic —
RS2144311694 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2144311846 LOXHD1 Health Risk Pathogenic —
RS2144315483 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS2144316016 DSG2 Health Risk Likely pathogenic —
RS2144317638 DSG2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2144317658 DSG2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2144317934 DSG2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2144318119 DSG2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2144321916 LOXHD1 Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS2144322548 DSG2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2144322985 DSG2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2144323019 DSG2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2144330766 ACOX1 Health Risk Likely pathogenic Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS2144332473 DSG2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2144332585 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS2144332631 DSG2 Health Risk Likely pathogenic —
RS2144333874 TLK2 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 57
RS2144334211 TLK2 Health Risk Pathogenic Intellectual disability, autosomal dominant 57
RS2144335544 TYMS Health Risk Pathogenic Dyskeratosis congenita, digenic
RS2144335824 TYMS Health Risk Pathogenic Dyskeratosis congenita, digenic
RS2144335968 TYMS Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS2144339570 TK2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, myopathic form
RS2144339598 DSG2 Health Risk Likely pathogenic —
RS2144339644 TK2 Health Risk Pathogenic/Likely pathogenic —
RS2144339967 DSG2 Health Risk Likely pathogenic —
RS2144346522 DSG2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2144353551 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS2144356324 TK2 Health Risk Pathogenic/Likely pathogenic Mitochondrial disease, Mitochondrial disease
RS2144359029 DSG2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2144361580 TCF4 Health Risk Likely pathogenic —
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