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
RS1570658378 NOTCH2 Health Risk Pathogenic Alagille syndrome due to a NOTCH2 point mutation, Alagille syndrome due to a NOTCH2 point mutation
RS1570674859 GNB1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 42
RS1570679652 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS1570692560 FUCA1 Health Risk Likely pathogenic Fucosidosis, Fucosidosis
RS1570696636 SZT2 Health Risk Likely pathogenic —
RS1570712875 COL11A1 Health Risk Likely pathogenic —
RS1570712889 COL11A1 Health Risk Likely pathogenic Fibrochondrogenesis 1, Stickler syndrome type 2
RS1570714352 NR0B2 Health Risk Likely pathogenic APC-mutation negative familial colorectal cancer, Obesity
RS1570715470 NMNAT1 Health Risk Likely pathogenic Leber congenital amaurosis 9, Leber congenital amaurosis 9
RS1570725499 TARDBP Health Risk Likely pathogenic Frontotemporal dementia, Frontotemporal dementia
RS1570733929 SZT2 Health Risk Pathogenic —
RS1570740272 COL11A1 Health Risk Likely pathogenic —
RS1570741194 SZT2 Health Risk Pathogenic SZT2-related disorder, SZT2-related disorder
RS1570752696 KCNA2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 32
RS1570753525 KCNA2 Health Risk Pathogenic Intellectual disability, Seizure
RS1570753974 KCNA2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 32
RS1570759415 ATP13A2 Health Risk Pathogenic Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS1570764426 LRIG2 Health Risk Likely pathogenic Urofacial syndrome 2, Urofacial syndrome 2
RS1570781670 COL11A1 Health Risk Likely pathogenic Hearing loss, autosomal dominant 37
RS1570783505 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS1570784592 CTRC Health Risk Likely pathogenic Hereditary pancreatitis, Hereditary pancreatitis
RS1570806631 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1570816218 DBT Health Risk Pathogenic Maple syrup urine disease type 2, Maple syrup urine disease type 2
RS1570820579 DBT Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1570822744 HSD3B2 Health Risk Likely pathogenic —
RS1570823863 HSD3B2 Health Risk Likely pathogenic —
RS1570829502 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS1570829757 MMACHC Health Risk Pathogenic/Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS1570829862 MMACHC Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS1570833527 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS1570836175 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1570851702 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1570858523 CEP104 Health Risk Pathogenic Cerebellar ataxia, Dystonic disorder
RS1570861829 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1570863351 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1570866192 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1570874751 NRAS Health Risk Likely pathogenic Anemia, Noonan syndrome
RS1570876467 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1570877567 COL11A1 Health Risk Pathogenic Fibrochondrogenesis 1, Fibrochondrogenesis 1
RS1570891615 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1570893617 FLG Health Risk Pathogenic —
RS1570897758 FLG Health Risk Likely pathogenic Ichthyosis vulgaris, Ichthyosis vulgaris
RS1570898051 GLMN Health Risk Likely pathogenic Glomuvenous malformation, Glomuvenous malformation
RS1570913142 FLG Health Risk Pathogenic Inborn genetic diseases, Ichthyosis vulgaris
RS1570929072 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
RS1570929867 GATAD2B Health Risk Likely pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Inborn genetic diseases
RS1570929904 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
RS1570929919 GATAD2B Health Risk Pathogenic —
RS1570934766 ASH1L Health Risk Pathogenic ASH1L-related disorder, ASH1L-related disorder
RS1570936325 GPSM2 Health Risk Likely pathogenic —
RS1570936479 ALX3 Health Risk Pathogenic Frontorhiny, Frontorhiny
RS1570937961 GATAD2B Health Risk Pathogenic —
RS1570938014 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
RS1570938113 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
RS1570938310 ASH1L Health Risk Pathogenic —
RS1570940216 FLG2 Health Risk Likely pathogenic —
RS1570941501 ASH1L Health Risk Pathogenic —
RS1570944788 SDHB Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1570944850 SDHB Health Risk Pathogenic Pheochromocytoma, Gastrointestinal stromal tumor
RS1570944890 SDHB Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1570945796 SDHB Health Risk Pathogenic Gastrointestinal stromal tumor, Pheochromocytoma
RS1570945852 SDHB Health Risk Pathogenic —
RS1570945961 SDHB Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
RS1570948527 SDHB Health Risk Pathogenic Pheochromocytoma, Gastrointestinal stromal tumor
RS1570948631 SDHB Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 4
RS1570958022 SDHB Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 4, Pheochromocytoma
RS1570958038 SDHB Health Risk Pathogenic Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 4
RS1570958090 SDHB Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 4
RS1570963414 SDHB Health Risk Likely pathogenic Pheochromocytoma/paraganglioma syndrome 4, Pheochromocytoma/paraganglioma syndrome 4
RS1570963430 SDHB Health Risk Pathogenic Pheochromocytoma, Gastrointestinal stromal tumor
RS1570963451 SDHB Health Risk Pathogenic Pheochromocytoma, Gastrointestinal stromal tumor
RS1570963545 SDHB Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Pheochromocytoma
RS1570964992 GLMN Health Risk Pathogenic/Likely pathogenic Glomuvenous malformation, Glomuvenous malformation
RS1570980551 ATP1A1 Health Risk Pathogenic Hypomagnesemia, seizures
RS1570987954 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Developmental and epileptic encephalopathy 98
RS1570988755 ATP1A2 Health Risk Likely pathogenic —
RS1570990484 ATP1A2 Health Risk Pathogenic Familial hemiplegic migraine, Familial hemiplegic migraine
RS1570993763 GLMN Health Risk Likely pathogenic Glomuvenous malformation, Glomuvenous malformation
RS1570994712 ATP1A2 Health Risk Likely pathogenic Familial hemiplegic migraine, Familial hemiplegic migraine
RS1570995017 ATP1A2 Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS1570998206 ATP1A2 Health Risk Pathogenic/Likely pathogenic Epilepsy, Familial hemiplegic migraine
RS1571013274 PHGDH Health Risk Pathogenic/Likely pathogenic PHGDH deficiency, Neu-Laxova syndrome 1
RS1571024385 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1571024430 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia 6, Diamond-Blackfan anemia
RS1571026775 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia 6, Diamond-Blackfan anemia 6
RS1571032029 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia 6, Diamond-Blackfan anemia 6
RS1571033506 HMGCS2 Health Risk Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS1571037298 HMGCS2 Health Risk Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS1571046516 ADAR Health Risk Likely pathogenic —
RS1571046959 ADAR Health Risk Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities
RS1571050825 ADAR Health Risk Likely pathogenic Symmetrical dyschromatosis of extremities, Symmetrical dyschromatosis of extremities
RS1571063283 ADAR Health Risk Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS1571065237 ADAR Health Risk Pathogenic/Likely pathogenic Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS1571079651 COL11A1 Health Risk Likely pathogenic —
RS1571081028 LORICRIN Health Risk Likely pathogenic —
RS1571089005 ADAR Health Risk Pathogenic —
RS1571095986 ADAR Health Risk Likely pathogenic —
RS1571110158 ADAR Health Risk Likely pathogenic Aicardi-Goutieres syndrome 6, Aicardi-Goutieres syndrome 6
RS1571110353 ADAR Health Risk Pathogenic Symmetrical dyschromatosis of extremities, Symmetrical dyschromatosis of extremities
RS1571122183 CTSK Health Risk Pathogenic 8 conditions, 15 conditions
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