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
RS1553177688 SDHB Health Risk Pathogenic/Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Gastrointestinal stromal tumor
RS1553177690 SDHB Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor
RS1553177739 SDHB Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Gastrointestinal stromal tumor
RS1553177741 SDHB Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553177742 SDHB Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS1553177768 SDHB Health Risk Pathogenic/Likely pathogenic Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor
RS1553177769 SDHB Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor
RS1553177772 SDHB Health Risk Pathogenic/Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Gastrointestinal stromal tumor
RS1553178040 SDHB Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS1553178041 SDHB Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS1553178047 NPHP4 Health Risk Pathogenic/Likely pathogenic Nephronophthisis 4, Senior-Loken syndrome 4
RS1553178276 AGRN Health Risk Likely pathogenic —
RS1553178399 SARS1 Health Risk Pathogenic Cerebral arteriovenous malformation, Cerebral arteriovenous malformation
RS1553178726 SDHB Health Risk Likely pathogenic Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 4
RS1553178729 SDHB Health Risk Pathogenic Pheochromocytoma, Gastrointestinal stromal tumor
RS1553178737 SDHB Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Pheochromocytoma
RS1553179312 SDHB Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Pheochromocytoma
RS1553179313 SDHB Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS1553179337 SDHB Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553179340 SDHB Health Risk Pathogenic Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 4
RS1553179359 SDHB Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
RS1553180057 STIL Health Risk Pathogenic —
RS1553180342 NFIA Health Risk Pathogenic —
RS1553181257 KCNA2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 32
RS1553181280 KCNA2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 32
RS1553181282 KCNA2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 32
RS1553181301 KCNA2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 32
RS1553181323 KCNA2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 32
RS1553181370 KCNA2 Health Risk Likely pathogenic Seizure, Seizure
RS1553181398 KCNA2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 32
RS1553181400 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1553182933 NFIA Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553182964 NFIA Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553183148 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1553183178 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1553183220 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1553183359 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1553183771 PARS2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553184620 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1553184657 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1553185069 MTHFR Health Risk Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS1553185268 AGL Health Risk Likely pathogenic —
RS1553185302 AGL Health Risk Pathogenic Inborn genetic diseases, Glycogen storage disease type III
RS1553185403 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1553185418 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1553185474 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1553185497 MTHFR Health Risk Likely pathogenic —
RS1553185883 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1553185905 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1553186489 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1553186509 ABCA4 Health Risk Likely pathogenic Congenital stationary night blindness, Congenital stationary night blindness
RS1553186514 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1553186577 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1553186613 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1553186896 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Stargardt disease
RS1553187160 ABCA4 Health Risk Pathogenic Cone-rod dystrophy 3, Cone-rod dystrophy 3
RS1553187162 ABCA4 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1553187228 ABCA4 Health Risk Pathogenic —
RS1553187237 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1553187352 MTHFR Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS1553187362 GATAD2B Health Risk Likely pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS1553187443 GATAD2B Health Risk Pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS1553187446 GATAD2B Health Risk Pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS1553187509 MTHFR Health Risk Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS1553187583 GATAD2B Health Risk Pathogenic —
RS1553187606 GATAD2B Health Risk Pathogenic —
RS1553187939 ABCA4 Health Risk Pathogenic/Likely pathogenic Stargardt disease, Stargardt disease
RS1553187957 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1553188013 MTHFR Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS1553188054 GATAD2B Health Risk Pathogenic GATAD2B-related disorder, GATAD2B-related disorder
RS1553188071 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1553188314 GATAD2B Health Risk Pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS1553188335 GATAD2B Health Risk Pathogenic —
RS1553188463 GATAD2B Health Risk Pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Intellectual disability
RS1553188559 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1553188588 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1553188682 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1553188832 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1553188849 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1553188916 ABCA4 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 3, Severe early-childhood-onset retinal dystrophy
RS1553189179 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS1553189468 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1553189507 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1553189680 GATAD2B Health Risk Pathogenic —
RS1553189681 GATAD2B Health Risk Pathogenic Glioma susceptibility 1, Glioma susceptibility 1
RS1553189700 GATAD2B Health Risk Pathogenic —
RS1553189704 GATAD2B Health Risk Pathogenic —
RS1553189874 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Shprintzen-Goldberg syndrome
RS1553189986 SKI Health Risk Pathogenic Shprintzen-Goldberg syndrome, Shprintzen-Goldberg syndrome
RS1553190285 ATP1A1 Health Risk Pathogenic Charcot-Marie-tooth disease, axonal
RS1553190316 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1553190559 ABCA4 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1553190579 ABCA4 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 3, Cone-rod dystrophy 3
RS1553190664 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS1553190751 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1553191001 CDC14A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 32, Monogenic hearing loss
RS1553191393 GNB1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553191394 LORICRIN Health Risk Pathogenic —
RS1553191909 CASQ2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1553192086 ATP1A1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-tooth disease, axonal
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