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
RS2512386646 LONP1 Health Risk Pathogenic LONP1-related disorder, LONP1-related disorder
RS2512389876 INSR Health Risk Likely pathogenic 46, XY disorder of sex development
RS2512401555 TYK2 Health Risk Likely pathogenic Immunodeficiency 35, Immunodeficiency 35
RS2512409407 LONP1 Health Risk Likely pathogenic LONP1-related disorder, LONP1-related disorder
RS2512412601 LDLR Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS2512412871 LDLR Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2512413096 LDLR Health Risk Pathogenic Homozygous familial hypercholesterolemia, Familial hypercholesterolemia
RS2512413189 LDLR Health Risk Likely pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2512413340 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2512415167 LONP1 Health Risk Likely pathogenic LONP1-related disorder, LONP1-related disorder
RS2512415212 LONP1 Health Risk Pathogenic See cases, See cases
RS2512415881 LDLR Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2512416149 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2512416446 LDLR Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2512416505 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2512416741 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS2512416749 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2512416887 LDLR Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2512417016 LDLR Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypercholesterolemia
RS2512417179 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2512420115 PIGN Health Risk Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2512420239 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2512420710 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2512421362 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2512423018 GIPC3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 15, Inborn genetic diseases
RS2512423085 GIPC3 Health Risk Likely pathogenic GIPC3-related disorder, GIPC3-related disorder
RS2512423093 PIGN Health Risk Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2512427980 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2512428555 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2512429091 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2512429111 LDLR Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2512429190 LDLR Health Risk Likely pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2512429344 LDLR Health Risk Likely pathogenic Homozygous familial hypercholesterolemia, Homozygous familial hypercholesterolemia
RS2512429887 LDLR Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2512430551 LDLR Health Risk Pathogenic Cardiovascular phenotype, Hypercholesterolemia
RS2512431262 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Familial hypercholesterolemia
RS2512431281 LDLR Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2512431409 LDLR Health Risk Likely pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2512431448 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2512439870 HCN2 Health Risk Pathogenic HCN2 related developmental and epileptic encephalopathy, HCN2 related developmental and epileptic encephalopathy
RS2512441003 LDLR Health Risk Likely pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2512441961 LDLR Health Risk Likely pathogenic Homozygous familial hypercholesterolemia, Homozygous familial hypercholesterolemia
RS2512443872 LONP1 Health Risk Pathogenic —
RS2512444496 CLPP Health Risk Pathogenic Perrault syndrome 1, Perrault syndrome 1
RS2512444516 PIGN Health Risk Pathogenic/Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2512445672 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2512446194 ARHGEF18 Health Risk Pathogenic —
RS2512446307 CLPP Health Risk Pathogenic —
RS2512449193 HCN2 Health Risk Pathogenic HCN2 related developmental and epileptic encephalopathy, HCN2 related developmental and epileptic encephalopathy
RS2512450547 HCN2 Health Risk Pathogenic HCN2 related developmental and epileptic encephalopathy, HCN2 related developmental and epileptic encephalopathy
RS2512452816 HCN2 Health Risk Pathogenic HCN2 related developmental and epileptic encephalopathy, HCN2 related developmental and epileptic encephalopathy
RS2512454201 TYK2 Health Risk Pathogenic Immunodeficiency 35, Immunodeficiency 35
RS2512454602 HCN2 Health Risk Pathogenic HCN2 related developmental and epileptic encephalopathy, HCN2 related developmental and epileptic encephalopathy
RS2512455727 LDLR Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2512455976 LDLR Health Risk Likely pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2512459304 HCN2 Health Risk Pathogenic HCN2 related developmental and epileptic encephalopathy, HCN2 related developmental and epileptic encephalopathy
RS2512460552 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2512461138 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2512461322 LDLR Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2512461325 TYK2 Health Risk Pathogenic Immunodeficiency 35, Immunodeficiency 35
RS2512461637 LDLR Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2512463430 APC2 Health Risk Likely pathogenic Intellectual developmental disorder, autosomal recessive 74
RS2512466186 MCOLN1 Health Risk Likely pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2512466411 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS2512468099 MCOLN1 Health Risk Likely pathogenic Mucolipidosis type IV, MCOLN1-related disorder
RS2512468178 MCOLN1 Health Risk Likely pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2512468209 MCOLN1 Health Risk Likely pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2512469342 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2512469706 MCOLN1 Health Risk Likely pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2512469807 MCOLN1 Health Risk Likely pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2512469818 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2512469840 MCOLN1 Health Risk Likely pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2512470541 MCOLN1 Health Risk Pathogenic/Likely pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2512470594 MCOLN1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2512470634 MCOLN1 Health Risk Likely pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2512470983 MCOLN1 Health Risk Likely pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2512471493 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2512471532 MCOLN1 Health Risk Likely pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2512472276 MCOLN1 Health Risk Pathogenic/Likely pathogenic Mucolipidosis type IV, Lisch epithelial corneal dystrophy
RS2512472317 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2512472667 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2512472676 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2512472704 MCOLN1 Health Risk Likely pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2512473619 MCOLN1 Health Risk Likely pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2512473911 ODAD3 Health Risk Likely pathogenic ODAD3-related disorder, ODAD3-related disorder
RS2512474273 MCOLN1 Health Risk Likely pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2512474342 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2512474348 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2512474534 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2512475700 APC2 Health Risk Likely pathogenic Cortical dysplasia, complex
RS2512477210 BPTF Health Risk Likely pathogenic —
RS2512477841 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS2512478127 RNASEH2A Health Risk Pathogenic Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
RS2512479908 RNASEH2A Health Risk Likely pathogenic RNASEH2A-related disorder, RNASEH2A-related disorder
RS2512481936 ATG4D Health Risk Pathogenic See cases, See cases
RS2512482280 ODAD3 Health Risk Pathogenic Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30
RS2512482311 ODAD3 Health Risk Likely pathogenic Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30
RS2512483025 ODAD3 Health Risk Pathogenic Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30
RS2512483255 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS2512484262 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
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