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
RS2524992538 SLC2A1 Health Risk Pathogenic/Likely pathogenic Encephalopathy due to GLUT1 deficiency, Childhood onset GLUT1 deficiency syndrome 2
RS2524992555 SLC2A1 Health Risk Pathogenic/Likely pathogenic Encephalopathy due to GLUT1 deficiency, GLUT1 deficiency syndrome 1
RS2524992657 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS2524992866 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS2524993821 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS2524994181 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS2524994322 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS2524994412 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS2524994638 SELENON Health Risk Pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS2524994791 SELENON Health Risk Pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS2524994962 SDHB Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2524994983 SDHB Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2524995090 SDHB Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 4, Pheochromocytoma
RS2524995128 SDHB Health Risk Likely pathogenic Pheochromocytoma/paraganglioma syndrome 4, Pheochromocytoma/paraganglioma syndrome 4
RS2524997284 SLC2A1 Health Risk Pathogenic —
RS2524997294 SLC2A1 Health Risk Pathogenic Encephalopathy due to GLUT1 deficiency, Encephalopathy due to GLUT1 deficiency
RS2524997437 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS2524997712 SLC2A1 Health Risk Likely pathogenic —
RS2524997940 SLC2A1 Health Risk Likely pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS2524997975 SLC2A1 Health Risk Likely pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS2524998256 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS2524998344 SLC2A1 Health Risk Likely pathogenic —
RS2524998439 SLC2A1 Health Risk Pathogenic/Likely pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS2524998969 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS2524999169 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS2524999400 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS2524999421 SLC2A1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS2524999434 SLC2A1 Health Risk Likely pathogenic Dystonia 9, Dystonia 9
RS2524999574 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS2524999660 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS2524999769 DOCK7 Health Risk Pathogenic Developmental and epileptic encephalopathy, 23
RS2525003715 SDHB Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2525003739 SDHB Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 4, Pheochromocytoma
RS2525003842 SDHB Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2525004018 SDHB Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 4, Pheochromocytoma
RS2525004143 SDHB Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Pheochromocytoma
RS2525004176 SDHB Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor
RS2525004214 SDHB Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor
RS2525004224 SDHB Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2525004279 SDHB Health Risk Pathogenic Pheochromocytoma, Gastrointestinal stromal tumor
RS2525004332 SDHB Health Risk Pathogenic Renal cell carcinoma, Renal cell carcinoma
RS2525005084 SELENON Health Risk Likely pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS2525008654 SDHB Health Risk Pathogenic/Likely pathogenic Pheochromocytoma, Gastrointestinal stromal tumor
RS2525008725 SDHB Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor
RS2525010444 DDR2 Health Risk Pathogenic —
RS2525015022 COL11A1 Health Risk Pathogenic COL11A1-related disorder, COL11A1-related disorder
RS2525016020 COL11A1 Health Risk Pathogenic —
RS2525016047 COL11A1 Health Risk Pathogenic —
RS2525017627 SDHB Health Risk Pathogenic Pheochromocytoma, Pheochromocytoma/paraganglioma syndrome 4
RS2525017788 SDHB Health Risk Pathogenic Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 4
RS2525018148 SDHB Health Risk Likely pathogenic Pheochromocytoma/paraganglioma syndrome 4, Pheochromocytoma/paraganglioma syndrome 4
RS2525020268 SDHB Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 4
RS2525020453 SDHB Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 4, Pheochromocytoma
RS2525020788 SDHB Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS2525020920 SDHB Health Risk Pathogenic/Likely pathogenic Gastrointestinal stromal tumor, Pheochromocytoma
RS2525020995 SDHB Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 4
RS2525027053 SPTA1 Health Risk Pathogenic Hereditary spherocytosis type 3, Hereditary spherocytosis type 3
RS2525031517 NFIA Health Risk Likely pathogenic Brain malformations with or without urinary tract defects, Brain malformations with or without urinary tract defects
RS2525032431 SPTA1 Health Risk Likely pathogenic —
RS2525035112 SLC2A1 Health Risk Likely pathogenic SLC2A1-related disorder, SLC2A1-related disorder
RS2525035843 DDR2 Health Risk Pathogenic —
RS2525037609 SNX27 Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2525040830 CASQ1 Health Risk Pathogenic Myopathy with tubular aggregates, Myopathy with tubular aggregates
RS2525047102 DMD Health Risk Pathogenic —
RS2525047217 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2525047746 DMD Health Risk Likely pathogenic —
RS2525047957 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2525049766 SPTA1 Health Risk Pathogenic/Likely pathogenic —
RS2525049882 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2525049931 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2525050898 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2525053134 KCND3 Health Risk Pathogenic —
RS2525053501 KCND3 Health Risk Likely pathogenic Spinocerebellar ataxia type 19/22, Spinocerebellar ataxia type 19/22
RS2525053579 KCND3 Health Risk Likely pathogenic Spinocerebellar ataxia type 19/22, Spinocerebellar ataxia type 19/22
RS2525054281 ALG13 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 36
RS2525059708 SDHB Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 4, Pheochromocytoma
RS2525059744 SDHB Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 4, Pheochromocytoma
RS2525059780 SDHB Health Risk Pathogenic Pheochromocytoma, Gastrointestinal stromal tumor
RS2525060115 SDHB Health Risk Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS2525060252 SDHB Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Pheochromocytoma
RS2525063877 COL11A1 Health Risk Pathogenic COL11A1-related disorder, COL11A1-related disorder
RS2525071082 SPTA1 Health Risk Likely pathogenic SPTA1-related disorder, SPTA1-related disorder
RS2525073526 ADCY10 Health Risk Pathogenic —
RS2525078899 SPTA1 Health Risk Likely pathogenic —
RS2525082757 SDHB Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Pheochromocytoma
RS2525082838 SDHB Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2525083200 SDHB Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 4
RS2525084740 SLC2A1;SLC2A1-DT Health Risk Pathogenic Childhood onset GLUT1 deficiency syndrome 2, Childhood onset GLUT1 deficiency syndrome 2
RS2525088360 SLC16A1 Health Risk Pathogenic SLC16A1-related disorder, SLC16A1-related disorder
RS2525089647 PIK3CD Health Risk Pathogenic Immunodeficiency 14, Immunodeficiency 14
RS2525092495 SPTA1 Health Risk Likely pathogenic —
RS2525100006 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2525104200 SPTA1 Health Risk Likely pathogenic —
RS2525109111 COL11A1 Health Risk Pathogenic —
RS2525109189 NFIA Health Risk Pathogenic/Likely pathogenic Brain malformations with or without urinary tract defects, Brain malformations with or without urinary tract defects
RS2525109250 COL11A1 Health Risk Likely pathogenic Stickler syndrome type 2, Marshall syndrome
RS2525111885 SPTA1 Health Risk Pathogenic/Likely pathogenic —
RS2525112539 SF3B4 Health Risk Likely pathogenic SF3B4-related disorder, SF3B4-related disorder
RS2525112967 COL11A1 Health Risk Pathogenic —
RS2525117956 COL11A1 Health Risk Pathogenic —
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