SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS863224053 LRPPRC Health Risk Pathogenic/Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS863224054 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS863224055 LRPPRC Health Risk Pathogenic/Likely pathogenic —
RS863224057 LRPPRC Health Risk Likely pathogenic —
RS863224058 LRPPRC Health Risk Likely pathogenic —
RS863224059 LRPPRC Health Risk Pathogenic —
RS863224064 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Retinal dystrophy
RS863224065 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS863224066 MFN2 Health Risk Conflicting classifications of pathogenicity Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2
RS863224068 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS863224069 MFN2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Cerebellar ataxia
RS863224072 MPV17 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Charcot-Marie-Tooth disease
RS863224074 MPV17 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, axonal
RS863224075 MRPS16 Health Risk Pathogenic —
RS863224077 MRPS22 Health Risk Pathogenic —
RS863224079 NDUFA11 Health Risk Pathogenic —
RS863224083 NDUFA10 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS863224084 NDUFA2 Health Risk Conflicting classifications of pathogenicity Cystic Leukoencephalopathy, Mitochondrial complex I deficiency
RS863224089 NDUFAF1 Health Risk Pathogenic —
RS863224097 NDUFS1 Health Risk Likely pathogenic —
RS863224099 NDUFS1 Health Risk Likely pathogenic —
RS863224100 NDUFS1 Health Risk Likely pathogenic —
RS863224101 NDUFS1 Health Risk Likely pathogenic Mitochondrial disease, Mitochondrial disease
RS863224103 NDUFS1 Health Risk Likely pathogenic —
RS863224106 NDUFS3 Health Risk Likely pathogenic —
RS863224107 NDUFS3 Health Risk Pathogenic —
RS863224110 NDUFS6 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 9
RS863224111 NDUFS6 Health Risk Likely pathogenic —
RS863224113 NDUFS7 Health Risk Pathogenic —
RS863224115 NDUFS8 Health Risk Likely pathogenic —
RS863224116 NDUFV1 Health Risk Likely pathogenic —
RS863224118 NDUFV1 Health Risk Pathogenic —
RS863224119 NDUFV1 Health Risk Pathogenic —
RS863224120 NDUFV1 Health Risk Pathogenic —
RS863224123 NUBPL Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 21
RS863224127 OPA1 Health Risk Pathogenic Optic atrophy, Optic atrophy
RS863224128 OPA1 Health Risk Pathogenic —
RS863224130 OPA1 Health Risk Likely pathogenic —
RS863224131 OPA1 Health Risk Likely pathogenic Optic atrophy, Optic atrophy
RS863224132 OPA1 Health Risk Likely pathogenic —
RS863224134 OPA1 Health Risk Pathogenic Optic atrophy, Optic atrophy
RS863224135 OPA1 Health Risk Likely pathogenic —
RS863224136 OPA1 Health Risk Likely pathogenic —
RS863224137 OPA1 Health Risk Conflicting classifications of pathogenicity —
RS863224140 OPA1 Health Risk Likely pathogenic 9 conditions, Optic atrophy with or without deafness
RS863224141 OPA1 Health Risk Pathogenic —
RS863224142 OPA1 Health Risk Pathogenic —
RS863224143 OPA1 Health Risk Pathogenic —
RS863224145 PDHA1 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS863224146 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase complex deficiency
RS863224147 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, SUDDEN INFANT DEATH SYNDROME
RS863224148 PDHA1 Health Risk Likely pathogenic Inborn genetic diseases, Pyruvate dehydrogenase E1-alpha deficiency
RS863224149 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS863224150 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase complex deficiency
RS863224151 PDHA1 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS863224153 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS863224155 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS863224156 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Inborn genetic diseases
RS863224157 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS863224158 PDHB Health Risk Likely pathogenic —
RS863224162 PDSS1 Health Risk Likely pathogenic —
RS863224163 PDSS1 Health Risk Pathogenic —
RS863224166 PDSS2 Health Risk Pathogenic —
RS863224167 PDSS2 Health Risk Likely pathogenic —
RS863224169 PNPT1 Health Risk Conflicting classifications of pathogenicity —
RS863224174 PUS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS863224176 PUS1 Health Risk Conflicting classifications of pathogenicity —
RS863224178 RARS2 Health Risk Conflicting classifications of pathogenicity —
RS863224180 RARS2 Health Risk Conflicting classifications of pathogenicity —
RS863224182 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS863224183 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, RARS2-related disorder
RS863224186 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS863224191 RRM2B Health Risk Pathogenic/Likely pathogenic Rod-cone dystrophy, sensorineural deafness
RS863224192 RRM2B Health Risk Pathogenic —
RS863224193 RRM2B Health Risk Conflicting classifications of pathogenicity Severe lactic acidosis, Mitochondrial DNA depletion syndrome 8a
RS863224194 RRM2B Health Risk Pathogenic —
RS863224195 SARS2 Health Risk Pathogenic —
RS863224203 SLC19A3 Health Risk Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS863224204 SLC19A3 Health Risk Pathogenic —
RS863224208 SLC25A4 Health Risk Likely pathogenic —
RS863224209 SLC25A4 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
RS863224211 SLC37A4 Health Risk Conflicting classifications of pathogenicity Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS863224216 SPG7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS863224223 SPG7 Health Risk Pathogenic —
RS863224224 SURF1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Inborn genetic diseases
RS863224227 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS863224228 SURF1 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS863224229 SURF1 Health Risk Pathogenic/Likely pathogenic Leigh syndrome, Mitochondrial complex IV deficiency
RS863224230 SURF1 Health Risk Likely pathogenic —
RS863224234 TIMM8A Health Risk Likely pathogenic —
RS863224237 TPK1 Health Risk Pathogenic/Likely pathogenic Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
RS863224238 TPK1 Health Risk Pathogenic —
RS863224239 TRMU Health Risk Likely pathogenic —
RS863224241 TRMU Health Risk Conflicting classifications of pathogenicity Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, TRMU-related disorder
RS863224242 TRMU Health Risk Conflicting classifications of pathogenicity Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Aminoglycoside-induced deafness
RS863224246 TUFM Health Risk Likely pathogenic —
RS863224247 TYMP Health Risk Conflicting classifications of pathogenicity —
RS863224248 TYMP Health Risk Conflicting classifications of pathogenicity —
RS863224250 TYMP Health Risk Conflicting classifications of pathogenicity —
RS863224251 TYMP Health Risk Likely pathogenic —
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