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
RS2477199629 HADH Health Risk Likely pathogenic Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Deficiency of 3-hydroxyacyl-CoA dehydrogenase
RS2477200274 HADH Health Risk Likely pathogenic Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Deficiency of 3-hydroxyacyl-CoA dehydrogenase
RS2477206578 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS2477208862 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS2477213389 FRAS1 Health Risk Pathogenic —
RS2477213486 NDUFS6 Health Risk Pathogenic —
RS2477216764 HADH Health Risk Likely pathogenic Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Deficiency of 3-hydroxyacyl-CoA dehydrogenase
RS2477217032 HADH Health Risk Pathogenic Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Deficiency of 3-hydroxyacyl-CoA dehydrogenase
RS2477217602 HADH Health Risk Pathogenic Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Deficiency of 3-hydroxyacyl-CoA dehydrogenase
RS2477219950 FRAS1 Health Risk Pathogenic —
RS2477220144 FRAS1 Health Risk Pathogenic —
RS2477220689 FRAS1 Health Risk Pathogenic —
RS2477224586 FRAS1 Health Risk Pathogenic —
RS2477224722 FRAS1 Health Risk Likely pathogenic —
RS2477224750 FRAS1 Health Risk Pathogenic —
RS2477228328 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS2477230696 FRAS1 Health Risk Likely pathogenic —
RS2477230774 FRAS1 Health Risk Pathogenic —
RS2477231084 FRAS1 Health Risk Pathogenic —
RS2477231116 FRAS1 Health Risk Pathogenic —
RS2477236844 FRAS1 Health Risk Likely pathogenic —
RS2477237481 HADH Health Risk Likely pathogenic Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Deficiency of 3-hydroxyacyl-CoA dehydrogenase
RS2477237537 HADH Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS2477238123 HADH Health Risk Pathogenic Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Deficiency of 3-hydroxyacyl-CoA dehydrogenase
RS2477240276 NDUFS6 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 9
RS2477240280 NDUFS6 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 9
RS2477240345 NDUFS6 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 9
RS2477240409 NDUFS6 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 9
RS2477240425 NAF1 Health Risk Likely pathogenic —
RS2477240519 NDUFS6 Health Risk Pathogenic —
RS2477240695 PRDM5 Health Risk Likely pathogenic —
RS2477243665 NDUFS6 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 9
RS2477243678 NDUFS6 Health Risk Pathogenic —
RS2477246721 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS2477247285 F11 Health Risk Pathogenic —
RS2477251404 SDHA Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency
RS2477251707 SDHA Health Risk Pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS2477252480 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Pheochromocytoma/paraganglioma syndrome 5
RS2477269322 FRAS1 Health Risk Likely pathogenic FRAS1-related disorder, Fraser syndrome 1
RS2477270617 HADH Health Risk Pathogenic Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Deficiency of 3-hydroxyacyl-CoA dehydrogenase
RS2477270976 F11 Health Risk Pathogenic —
RS2477271367 FRAS1 Health Risk Pathogenic —
RS2477277265 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS2477278563 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS2477280027 F11 Health Risk Pathogenic —
RS2477280161 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS2477280285 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Hereditary cancer-predisposing syndrome
RS2477280470 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS2477280960 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS2477285101 FAT1 Health Risk Pathogenic —
RS2477285455 SDHA Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1GG, Pheochromocytoma/paraganglioma syndrome 5
RS2477285645 SDHA Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2477286479 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Pheochromocytoma/paraganglioma syndrome 5
RS2477286570 FRAS1 Health Risk Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS2477286915 FRAS1 Health Risk Pathogenic —
RS2477287321 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS2477287398 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS2477293918 SDHA Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2477293926 SDHA Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2477294151 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Pheochromocytoma/paraganglioma syndrome 5
RS2477294498 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS2477295096 SDHA Health Risk Pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS2477295482 SDHA Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2477297765 FRAS1 Health Risk Pathogenic —
RS2477298642 SDHA Health Risk Pathogenic/Likely pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS2477298889 SDHA Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency
RS2477299633 SDHA Health Risk Pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS2477300874 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS2477302963 FAT1 Health Risk Pathogenic —
RS2477303722 FRAS1 Health Risk Pathogenic —
RS2477315106 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Pheochromocytoma/paraganglioma syndrome 5
RS2477315652 SDHA Health Risk Likely pathogenic Dilated cardiomyopathy 1GG, Dilated cardiomyopathy 1GG
RS2477316500 SDHA Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2477316721 SDHA Health Risk Likely pathogenic Dilated cardiomyopathy 1GG, Dilated cardiomyopathy 1GG
RS2477317847 SDHA Health Risk Likely pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS2477317908 SDHA Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency
RS2477323136 F11 Health Risk Pathogenic —
RS2477325641 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS2477327654 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS2477328134 SLC6A3 Health Risk Pathogenic Classic dopamine transporter deficiency syndrome, Classic dopamine transporter deficiency syndrome
RS2477329625 COL4A4 Health Risk Likely pathogenic Benign familial hematuria, Hematuria
RS2477330146 F11 Health Risk Pathogenic —
RS2477331268 F11 Health Risk Pathogenic —
RS2477331881 SDHA Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS2477333271 SDHA Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2477333326 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Pheochromocytoma/paraganglioma syndrome 5
RS2477335764 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS2477348170 SDHA Health Risk Likely pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS2477348187 SDHA Health Risk Likely pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS2477348907 SDHA Health Risk Pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS2477349585 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS2477349594 SDHA Health Risk Pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS2477349696 SDHA Health Risk Likely pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS2477349889 SDHA Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2477350916 SDHA Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2477351091 SDHA Health Risk Pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS2477356200 ADAMTS16 Health Risk Likely pathogenic 46, XY disorder of sex development
RS2477359801 FAT1 Health Risk Likely pathogenic —
RS2477361951 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS2477362018 SDHA Health Risk Likely pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
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