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
RS2100414767 NFIA Health Risk Likely pathogenic Chromosome 1p32-p31 deletion syndrome, Chromosome 1p32-p31 deletion syndrome
RS2100415350 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2100415367 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2100417039 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2100417374 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2100417454 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2100417476 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2100417619 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2100417620 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2100417735 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2100417752 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2100419143 PEX10 Health Risk Likely pathogenic Peroxisome biogenesis disorder, complementation group 7
RS2100419408 MTOR Health Risk Conflicting classifications of pathogenicity —
RS2100420854 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2100421533 ALG6 Health Risk Pathogenic/Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2100421716 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2100421727 ALG6 Health Risk Pathogenic/Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2100422532 PEX10 Health Risk Pathogenic Peroxisome biogenesis disorder, complementation group 7
RS2100422652 PEX10 Health Risk Pathogenic Peroxisome biogenesis disorder, complementation group 7
RS2100423250 PEX10 Health Risk Pathogenic Peroxisome biogenesis disorder, complementation group 7
RS2100423312 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2100423836 MTOR Health Risk Likely pathogenic —
RS2100423871 MTOR Health Risk Likely pathogenic Overgrowth syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
RS2100428321 PEX10 Health Risk Pathogenic Peroxisome biogenesis disorder, complementation group 7
RS2100428385 PEX10 Health Risk Pathogenic Peroxisome biogenesis disorder, complementation group 7
RS2100428583 PEX10 Health Risk Pathogenic Peroxisome biogenesis disorder, complementation group 7
RS2100428812 PEX10 Health Risk Pathogenic Peroxisome biogenesis disorder, complementation group 7
RS2100429011 PEX10 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, complementation group 7
RS2100429148 PEX10 Health Risk Pathogenic Peroxisome biogenesis disorder, complementation group 7
RS2100429450 PEX10 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2100433281 MTOR Health Risk Likely pathogenic —
RS2100440701 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2100451989 GNB1 Health Risk Pathogenic Intellectual disability, autosomal dominant 42
RS2100452011 GNB1 Health Risk Likely pathogenic —
RS2100452147 WLS Health Risk Pathogenic WLS syndrome, Zaki syndrome
RS2100452908 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2100452915 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2100452990 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2100453109 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2100453278 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2100453287 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2100453612 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2100453846 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2100466824 NPHP4 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Nephronophthisis 4
RS2100471616 NPHP4 Health Risk Pathogenic —
RS2100477650 MTOR Health Risk Likely pathogenic Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
RS2100479399 GNB1 Health Risk Pathogenic Intellectual disability, autosomal dominant 42
RS2100485780 NFIA Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2100494177 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2100495241 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS2100499107 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2100499494 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2100506903 MTHFR Health Risk Likely pathogenic See cases, See cases
RS2100507511 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2100513927 MSH4 Health Risk Pathogenic Spermatogenic failure 2, Spermatogenic failure 2
RS2100519683 MTOR Health Risk Conflicting classifications of pathogenicity —
RS2100520890 NFIA Health Risk Likely pathogenic Chromosome 1p32-p31 deletion syndrome, Brain malformations with or without urinary tract defects
RS2100522053 MTHFR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS2100523280 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2100524602 MTHFR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS2100527601 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2100527918 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2100528352 MTHFR Health Risk Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2100546091 GNB1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 42
RS2100546220 GNB1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 42
RS2100562061 MTHFR Health Risk Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2100566800 MTOR Health Risk Likely pathogenic Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
RS2100566841 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2100568604 MTHFR Health Risk Pathogenic/Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS2100570734 MSH4 Health Risk Pathogenic Spermatogenic failure 2, Spermatogenic failure 2
RS2100577466 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS2100581757 MSH4 Health Risk Pathogenic Spermatogenic failure 2, Spermatogenic failure 2
RS2100593635 ALDH4A1 Health Risk Pathogenic Hyperprolinemia type 2, Hyperprolinemia type 2
RS2100594030 PIGK Health Risk Pathogenic Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
RS2100609915 MTOR Health Risk Likely pathogenic Isolated focal cortical dysplasia type II, Isolated focal cortical dysplasia type II
RS2100620614 NPHP4 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Senior-Loken syndrome 4
RS2100635216 AGRN Health Risk Pathogenic Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS2100635414 AGRN Health Risk Pathogenic Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS2100658801 MYSM1 Health Risk Pathogenic —
RS2100658808 MYSM1 Health Risk Pathogenic —
RS2100662912 PRDM16 Health Risk Pathogenic Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy
RS2100664124 PRDM16 Health Risk Likely pathogenic Left ventricular noncompaction 8, Left ventricular noncompaction 8
RS2100666336 AGRN Health Risk Pathogenic Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS2100672432 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2100676852 RPL5 Health Risk Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2100676956 RPL5 Health Risk Likely pathogenic See cases, See cases
RS2100676969 RPL5 Health Risk Likely pathogenic Diamond-Blackfan anemia 6, Diamond-Blackfan anemia 6
RS2100677043 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2100677045 RPL5 Health Risk Pathogenic/Likely pathogenic Diamond-Blackfan anemia 6, Diamond-Blackfan anemia 6
RS2100677960 ATAD3A Health Risk Conflicting classifications of pathogenicity Harel-Yoon syndrome, Inborn genetic diseases
RS2100678099 NPHP4 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2100682020 AGRN Health Risk Likely pathogenic Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS2100685034 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2100685045 RPL5 Health Risk Likely pathogenic —
RS2100685111 RPL5 Health Risk Pathogenic/Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia 6
RS2100688383 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2100688414 RPL5 Health Risk Likely pathogenic Diamond-Blackfan anemia 6, Diamond-Blackfan anemia 6
RS2100689699 AGRN Health Risk Pathogenic Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS2100695149 TMEM240 Health Risk Likely pathogenic Spinocerebellar ataxia type 21, Spinocerebellar ataxia type 21
RS2100697037 RPL5 Health Risk Likely pathogenic —
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