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
RS1641704371 NMNAT1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1641706044 RERE Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without anomalies of the brain, eye
RS1641722871 ATAD3A Health Risk Likely pathogenic Harel-Yoon syndrome, Harel-Yoon syndrome
RS1641789657 NMNAT1 Health Risk Likely pathogenic Leber congenital amaurosis 9, Leber congenital amaurosis 9
RS1641791811 NMNAT1 Health Risk Likely pathogenic Leber congenital amaurosis 9, Leber congenital amaurosis 9
RS1641792104 NMNAT1 Health Risk Likely pathogenic Leber congenital amaurosis 9, Leber congenital amaurosis 9
RS1641936336 NMNAT1 Health Risk Pathogenic Leber congenital amaurosis 9, Leber congenital amaurosis 9
RS1641937559 NMNAT1 Health Risk Pathogenic Leber congenital amaurosis 9, Leber congenital amaurosis 9
RS1641939338 NMNAT1 Health Risk Pathogenic Leber congenital amaurosis 9, Leber congenital amaurosis 9
RS1641939445 NMNAT1 Health Risk Pathogenic Spondyloepiphyseal dysplasia, sensorineural hearing loss
RS1641966003 MTOR Health Risk Conflicting classifications of pathogenicity Isolated focal cortical dysplasia type II, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
RS1641966303 NMNAT1 Health Risk Likely pathogenic Leber congenital amaurosis 9, Leber congenital amaurosis 9
RS1641966566 NMNAT1 Health Risk Pathogenic Leber congenital amaurosis 9, Leber congenital amaurosis 9
RS1641967500 NMNAT1 Health Risk Likely pathogenic Leber congenital amaurosis 9, Leber congenital amaurosis 9
RS1641967823 MTOR Health Risk Conflicting classifications of pathogenicity —
RS1641970512 NMNAT1 Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS1641971124 NMNAT1 Health Risk Likely pathogenic Leber congenital amaurosis 9, Leber congenital amaurosis 9
RS1641973290 NMNAT1 Health Risk Likely pathogenic Leber congenital amaurosis 9, Leber congenital amaurosis 9
RS1642122631 TRIT1 Health Risk Likely pathogenic TRIT1-related disorder, TRIT1-related disorder
RS1642202172 MTOR Health Risk Conflicting classifications of pathogenicity Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Isolated focal cortical dysplasia type II
RS1642221044 C1QA Health Risk Likely pathogenic C1Q deficiency, C1Q deficiency
RS1642345798 NPHP4 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS1642683882 NPHP4 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS1642913016 MTOR Health Risk Conflicting classifications of pathogenicity —
RS1642915400 MTOR Health Risk Likely pathogenic CEBALID syndrome, CEBALID syndrome
RS1643006514 PEX10 Health Risk Pathogenic Peroxisome biogenesis disorder, complementation group 7
RS1643015669 PEX10 Health Risk Likely pathogenic Peroxisome biogenesis disorder, complementation group 7
RS1643024516 MTOR Health Risk Likely pathogenic —
RS1643025235 MTOR Health Risk Conflicting classifications of pathogenicity —
RS1643027426 PEX10 Health Risk Pathogenic Peroxisome biogenesis disorder, complementation group 7
RS1643028060 PEX10 Health Risk Pathogenic Peroxisome biogenesis disorder, complementation group 7
RS1643028584 PEX10 Health Risk Likely pathogenic Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6A (Zellweger)
RS1643083325 PEX10 Health Risk Pathogenic Peroxisome biogenesis disorder, complementation group 7
RS1643085902 PEX10 Health Risk Pathogenic Peroxisome biogenesis disorder, complementation group 7
RS1643093232 PEX10 Health Risk Pathogenic Peroxisome biogenesis disorder, complementation group 7
RS1643098054 MTOR Health Risk Conflicting classifications of pathogenicity —
RS1643176372 PRDM16 Health Risk Pathogenic Left ventricular noncompaction 8, Left ventricular noncompaction 8
RS1643227639 VPS13D Health Risk Pathogenic —
RS1643275394 PEX10 Health Risk Pathogenic Peroxisome biogenesis disorder, complementation group 7
RS1643312973 PUM1 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia 47, Global developmental delay
RS1643435901 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS1643440876 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS1643441134 SLC2A1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1643441873 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS1643441930 SLC2A1 Health Risk Likely pathogenic SLC2A1-related disorder, SLC2A1-related disorder
RS1643442142 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS1643443081 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS1643443798 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS1643457017 SLC2A1 Health Risk Pathogenic Encephalopathy due to GLUT1 deficiency, Childhood onset GLUT1 deficiency syndrome 2
RS1643459989 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS1643470035 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS1643479461 SLC2A1 Health Risk Likely pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS1643479604 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS1643480228 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS1643480570 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS1643480923 SLC2A1 Health Risk Likely pathogenic Encephalopathy due to GLUT1 deficiency, Intellectual disability
RS1643481831 SLC2A1 Health Risk Pathogenic Childhood onset GLUT1 deficiency syndrome 2, Childhood onset GLUT1 deficiency syndrome 2
RS1643481875 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS1643481930 SLC2A1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1643484242 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS1643484307 SLC2A1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1643484447 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS1643486648 ADPRS Health Risk Pathogenic —
RS1643642110 DVL1 Health Risk Likely pathogenic Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1
RS1643645439 DVL1 Health Risk Pathogenic Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2
RS1643653768 TARDBP Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS
RS1643659556 TARDBP Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 10, Amyotrophic lateral sclerosis type 10
RS1643666556 MMACHC Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS1643667928 MMACHC Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS1643668441 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS1643677014 MMACHC Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS1643682280 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS1643683466 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS1643683813 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS1643715509 PRDM16 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1643807832 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS1643855445 EIF2B3 Health Risk Likely pathogenic Vanishing white matter disease, Vanishing white matter disease
RS1643857128 DVL1 Health Risk Likely pathogenic Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2
RS1643875847 NPHP4 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1643882944 NPHP4 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS1643944047 ESPN Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 36
RS1643945526 ESPN Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 36
RS1643950236 COL9A2 Health Risk Pathogenic —
RS1643987343 COL9A2 Health Risk Pathogenic —
RS1644046939 COL9A2 Health Risk Likely pathogenic —
RS1644052943 COL9A2 Health Risk Pathogenic —
RS1644090272 MTOR Health Risk Likely pathogenic CEBALID syndrome, CEBALID syndrome
RS1644090362 MTOR Health Risk Conflicting classifications of pathogenicity Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, CEBALID syndrome
RS1644092513 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS1644094173 COL9A2 Health Risk Pathogenic —
RS1644101576 COL9A2 Health Risk Likely pathogenic —
RS1644101814 COL9A2 Health Risk Pathogenic —
RS1644131579 ESPN Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 36
RS1644169357 CEP104 Health Risk Pathogenic/Likely pathogenic —
RS1644186925 MTHFR Health Risk Pathogenic/Likely pathogenic Neural tube defects, folate-sensitive
RS1644212098 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS1644227005 MTHFR Health Risk Pathogenic/Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS1644227125 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS1644227167 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS1644230120 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
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