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
RS2514049153 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS2514049229 SYNE4 Health Risk Pathogenic —
RS2514050218 ATP1A3 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS2514051953 SYNE4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 76, Autosomal recessive nonsyndromic hearing loss 76
RS2514052002 SYNE4 Health Risk Pathogenic —
RS2514054212 ATP1A3 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 99, Dystonia 12
RS2514054481 ATP1A3 Health Risk Pathogenic Dystonia 12, Dystonia 12
RS2514056258 ATP1A3 Health Risk Likely pathogenic —
RS2514065578 ATP1A3 Health Risk Pathogenic Dystonia 12, Dystonia 12
RS2514066639 ATP1A3 Health Risk Pathogenic/Likely pathogenic Dystonia 12, Alternating hemiplegia of childhood 2
RS2514066934 ATP1A3 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS2514067613 PPP2R1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2514069098 CIC Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2514070512 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS2514073477 RYR1 Health Risk Likely pathogenic Central core myopathy, Central core myopathy
RS2514074117 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Central core myopathy
RS2514074208 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514075131 ATP1A3 Health Risk Likely pathogenic Alternating hemiplegia of childhood 2, Alternating hemiplegia of childhood 2
RS2514075292 ATP1A3 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 99, Inborn genetic diseases
RS2514079238 PPP2R1A Health Risk Likely pathogenic Houge-Janssens syndrome 2, Houge-Janssens syndrome 2
RS2514079611 ATP1A3 Health Risk Likely pathogenic ATP1A3-associated neurological disorder, Dystonia 12
RS2514082917 CIC Health Risk Pathogenic —
RS2514083605 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514084596 ATP1A3 Health Risk Pathogenic Dystonia 12, Dystonia 12
RS2514085671 BCAT2 Health Risk Likely pathogenic —
RS2514088767 CPT1C Health Risk Pathogenic Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73
RS2514090823 SMARCA4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2514094817 PPP2R1A Health Risk Pathogenic Houge-Janssens syndrome 2, Houge-Janssens syndrome 2
RS2514101882 RYR1 Health Risk Likely pathogenic Centronuclear myopathy, Centronuclear myopathy
RS2514102015 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514103047 RYR1 Health Risk Likely pathogenic Central core myopathy, Central core myopathy
RS2514108449 BICRA Health Risk Pathogenic Coffin-Siris syndrome 12, Coffin-Siris syndrome 12
RS2514109185 BICRA Health Risk Pathogenic Coffin-Siris syndrome 12, Coffin-Siris syndrome 12
RS2514109782 BICRA Health Risk Pathogenic Coffin-Siris syndrome 12, Coffin-Siris syndrome 12
RS2514110530 BICRA Health Risk Likely pathogenic Coffin-Siris syndrome 12, Coffin-Siris syndrome 12
RS2514111647 BICRA Health Risk Pathogenic Coffin-Siris syndrome 12, Coffin-Siris syndrome 12
RS2514111692 BICRA Health Risk Likely pathogenic Coffin-Siris syndrome 12, Coffin-Siris syndrome 12
RS2514111941 BICRA Health Risk Pathogenic —
RS2514112962 SLC25A42 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2514116435 CNOT3 Health Risk Pathogenic Intellectual developmental disorder with speech delay, autism
RS2514117907 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514126893 BICRA Health Risk Likely pathogenic Coffin-Siris syndrome 12, Coffin-Siris syndrome 12
RS2514130905 BICRA Health Risk Likely pathogenic Coffin-Siris syndrome 12, Coffin-Siris syndrome 12
RS2514137674 BICRA Health Risk Pathogenic —
RS2514138366 BICRA Health Risk Likely pathogenic BICRA-related disorder, BICRA-related disorder
RS2514143868 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514144323 ETFB Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2514144368 ETFB Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2514144391 ETFB Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2514146143 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514146983 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514147270 CPT1C Health Risk Likely pathogenic Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73
RS2514148216 RYR1 Health Risk Likely pathogenic Malignant hyperthermia, susceptibility to
RS2514149162 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514149482 ETFB Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2514149910 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514152673 ETFB Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2514153018 ETFB Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2514153129 ETFB Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2514155370 ETFB Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2514155556 ETFB Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2514155822 ETFB Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2514155878 FCHO1 Health Risk Pathogenic —
RS2514155999 ETFB Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2514156024 ETFB Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2514156770 ARHGAP35 Health Risk Likely pathogenic Martsolf syndrome 1, Martsolf syndrome 1
RS2514156784 ARHGAP35 Health Risk Likely pathogenic Martsolf syndrome 1, Martsolf syndrome 1
RS2514157003 ARHGAP35 Health Risk Likely pathogenic Martsolf syndrome 1, Martsolf syndrome 1
RS2514159829 ARHGAP35 Health Risk Likely pathogenic Martsolf syndrome 1, Martsolf syndrome 1
RS2514161964 ARHGAP35 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2514162911 ARHGAP35 Health Risk Likely pathogenic Martsolf syndrome 1, Martsolf syndrome 1
RS2514163537 ARHGAP35 Health Risk Likely pathogenic Martsolf syndrome 1, Martsolf syndrome 1
RS2514169709 ETFB Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2514176735 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS2514176950 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS2514176987 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514177181 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS2514177448 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514177715 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514177898 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS2514178001 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514178269 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514192810 GP6 Health Risk Pathogenic —
RS2514210823 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514212793 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS2514214514 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514215278 U2AF2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Developmental delay
RS2514215337 U2AF2 Health Risk Likely pathogenic Leukodystrophy, Leukodystrophy
RS2514219045 U2AF2 Health Risk Pathogenic Developmental delay, dysmorphic facies
RS2514223066 CNOT3 Health Risk Pathogenic See cases, See cases
RS2514225496 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS2514227330 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS2514232982 SCN1B Health Risk Pathogenic Brugada syndrome 5, Brugada syndrome 5
RS2514232999 SCN1B Health Risk Pathogenic Brugada syndrome 5, Brugada syndrome 5
RS2514233130 SCN1B Health Risk Pathogenic Brugada syndrome 5, Brugada syndrome 5
RS2514234475 SCN1B Health Risk Pathogenic Brugada syndrome 5, Brugada syndrome 5
RS2514234786 SCN1B Health Risk Pathogenic Brugada syndrome 5, Brugada syndrome 5
RS2514235154 ARHGAP35 Health Risk Pathogenic Unilateral microphthalmos, Unilateral microphthalmos
RS2514235402 ARHGAP35 Health Risk Pathogenic Irido-corneo-trabecular dysgenesis, Irido-corneo-trabecular dysgenesis
RS2514235517 SCN1B Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 52
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