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
RS2526329989 COL6A1 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2526330524 FMO3 Health Risk Pathogenic —
RS2526332292 SDHC Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor
RS2526337540 COL6A1 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2526339061 COL6A1 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2526340934 FMO3 Health Risk Pathogenic —
RS2526341517 FMO3 Health Risk Pathogenic —
RS2526341854 FMO3 Health Risk Likely pathogenic —
RS2526345528 CNTN2 Health Risk Pathogenic Epilepsy, familial adult myoclonic
RS2526345779 CNTN2 Health Risk Pathogenic Epilepsy, familial adult myoclonic
RS2526347472 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2526352822 FMO3 Health Risk Pathogenic —
RS2526354513 F5 Health Risk Pathogenic Congenital factor V deficiency, Congenital factor V deficiency
RS2526358716 F5 Health Risk Likely pathogenic Congenital factor V deficiency, Congenital factor V deficiency
RS2526362315 FMO3 Health Risk Likely pathogenic —
RS2526362421 FMO3 Health Risk Pathogenic —
RS2526364101 SDHC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 3
RS2526364384 SDHC Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 3, Pheochromocytoma/paraganglioma syndrome 3
RS2526364668 SDHC Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 3, Pheochromocytoma/paraganglioma syndrome 3
RS2526364684 SDHC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 3
RS2526364876 SDHC Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor
RS2526365022 SDHC Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3
RS2526365241 CHRNB2 Health Risk Likely pathogenic Autosomal dominant nocturnal frontal lobe epilepsy 3, Autosomal dominant nocturnal frontal lobe epilepsy 3
RS2526365751 SDHC Health Risk Likely pathogenic Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor
RS2526370283 DHX9 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS2526373039 HSD3B2 Health Risk Pathogenic —
RS2526373514 HSD3B2 Health Risk Pathogenic —
RS2526376369 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS2526376498 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS2526376882 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS2526377834 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS2526377906 DHX9 Health Risk Pathogenic/Likely pathogenic DHX9-related disorder, Intellectual developmental disorder
RS2526378323 NPHS2 Health Risk Pathogenic —
RS2526378544 SPTA1 Health Risk Likely pathogenic —
RS2526378629 SPTA1 Health Risk Pathogenic —
RS2526378772 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS2526378815 F5 Health Risk Pathogenic/Likely pathogenic Congenital factor V deficiency, Congenital factor V deficiency
RS2526379067 NPHS2 Health Risk Pathogenic Nephrotic syndrome, type 2
RS2526379548 SPTA1 Health Risk Pathogenic —
RS2526380091 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS2526380104 NPHS2 Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome, type 2
RS2526380257 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS2526380602 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS2526381814 CNTN2 Health Risk Pathogenic Epilepsy, familial adult myoclonic
RS2526382945 HSD3B2 Health Risk Pathogenic —
RS2526383039 HSD3B2 Health Risk Pathogenic —
RS2526383275 PRG4 Health Risk Pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
RS2526387037 F5 Health Risk Pathogenic Congenital factor V deficiency, Congenital factor V deficiency
RS2526387234 F5 Health Risk Pathogenic —
RS2526387778 F5 Health Risk Pathogenic Congenital factor V deficiency, Congenital factor V deficiency
RS2526389374 F5 Health Risk Pathogenic Congenital factor V deficiency, Congenital factor V deficiency
RS2526391147 HSD3B2 Health Risk Likely pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency, HSD3B2-related disorder
RS2526391252 HSD3B2 Health Risk Pathogenic —
RS2526391280 HSD3B2 Health Risk Likely pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency
RS2526391378 HSD3B2 Health Risk Likely pathogenic Congenital adrenal hyperplasia, Congenital adrenal hyperplasia
RS2526391548 CNTN2 Health Risk Likely pathogenic Epilepsy, familial adult myoclonic
RS2526391994 HSD3B2 Health Risk Pathogenic —
RS2526392181 CNTN2 Health Risk Pathogenic —
RS2526392189 HSD3B2 Health Risk Pathogenic —
RS2526392374 HSD3B2 Health Risk Pathogenic —
RS2526392619 HSD3B2 Health Risk Pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency
RS2526392825 F5 Health Risk Pathogenic Congenital factor V deficiency, Congenital factor V deficiency
RS2526392908 HSD3B2 Health Risk Pathogenic —
RS2526393548 HSD3B2 Health Risk Pathogenic/Likely pathogenic Congenital adrenal hyperplasia, Congenital adrenal hyperplasia
RS2526394168 PRG4 Health Risk Pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
RS2526394415 F5 Health Risk Pathogenic Congenital factor V deficiency, Congenital factor V deficiency
RS2526394528 HSD3B2 Health Risk Likely pathogenic —
RS2526394921 F5 Health Risk Pathogenic Congenital factor V deficiency, Congenital factor V deficiency
RS2526395115 F5 Health Risk Pathogenic Congenital factor V deficiency, Congenital factor V deficiency
RS2526395906 F5 Health Risk Pathogenic Factor V deficiency, Factor V deficiency
RS2526399084 CD46 Health Risk Pathogenic Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
RS2526400673 CNTN2 Health Risk Pathogenic Epilepsy, familial adult myoclonic
RS2526400748 CNTN2 Health Risk Pathogenic Epilepsy, familial adult myoclonic
RS2526402037 DHX9 Health Risk Pathogenic —
RS2526402294 CD46 Health Risk Conflicting classifications of pathogenicity —
RS2526402741 CD46 Health Risk Pathogenic/Likely pathogenic —
RS2526403709 ECM1 Health Risk Likely pathogenic ECM1-related disorder, ECM1-related disorder
RS2526412851 ECM1 Health Risk Likely pathogenic Lipid proteinosis, Lipid proteinosis
RS2526413187 CNTN2 Health Risk Likely pathogenic Epilepsy, familial adult myoclonic
RS2526418181 CNTN2 Health Risk Likely pathogenic Epilepsy, familial adult myoclonic
RS2526418803 F5 Health Risk Likely pathogenic Congenital factor V deficiency, Congenital factor V deficiency
RS2526419037 SPTA1 Health Risk Likely pathogenic —
RS2526429943 CNTN2 Health Risk Pathogenic Epilepsy, familial adult myoclonic
RS2526430459 F5 Health Risk Pathogenic Congenital factor V deficiency, Congenital factor V deficiency
RS2526430620 F5 Health Risk Likely pathogenic Congenital factor V deficiency, Congenital factor V deficiency
RS2526433101 PRG4 Health Risk Pathogenic —
RS2526436644 CD46 Health Risk Pathogenic —
RS2526436760 LEPR Health Risk Pathogenic —
RS2526439935 DHX9 Health Risk Likely pathogenic —
RS2526439955 DHX9 Health Risk Likely pathogenic DHX9-related neurodevelopmental disorder, DHX9-related neurodevelopmental disorder
RS2526444928 PRG4 Health Risk Pathogenic —
RS2526445197 SDHC Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor
RS2526445474 F5 Health Risk Likely pathogenic Thrombophilia due to activated protein C resistance, Thrombophilia due to activated protein C resistance
RS2526445575 F5 Health Risk Likely pathogenic Congenital factor V deficiency, Congenital factor V deficiency
RS2526449355 ADAR Health Risk Pathogenic Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities
RS2526449847 ADAR Health Risk Likely pathogenic Aicardi-Goutieres syndrome 6, Aicardi-Goutieres syndrome 6
RS2526450124 ADAR Health Risk Pathogenic —
RS2526450332 PRG4 Health Risk Likely pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
RS2526451293 NRAS Health Risk Likely pathogenic Noonan syndrome, Noonan syndrome
RS2526451323 NRAS Health Risk Likely pathogenic Pyogenic granuloma, Pyogenic granuloma
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