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
RS2507125143 WWOX Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy
RS2507125596 WWOX Health Risk Likely pathogenic Developmental delay, Developmental delay
RS2507126639 WWOX Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS2507129824 OTOA Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 22
RS2507140681 TK2 Health Risk Pathogenic —
RS2507184447 TK2 Health Risk Pathogenic/Likely pathogenic Mitochondrial disease, Mitochondrial disease
RS2507195850 HYDIN Health Risk Likely pathogenic Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
RS2507209148 TK2 Health Risk Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
RS2507209157 TK2 Health Risk Pathogenic/Likely pathogenic —
RS2507215578 WWOX Health Risk Pathogenic WWOX-related disorder, WWOX-related disorder
RS2507216097 TK2 Health Risk Pathogenic —
RS2507252174 CHST6 Health Risk Pathogenic Macular corneal dystrophy, Macular corneal dystrophy
RS2507252387 CHST6 Health Risk Pathogenic Macular corneal dystrophy, Macular corneal dystrophy
RS2507253239 CHST6 Health Risk Pathogenic Macular corneal dystrophy, Macular corneal dystrophy
RS2507307401 DNAAF1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2507321527 XYLT1 Health Risk Pathogenic Desbuquois dysplasia 1, Desbuquois dysplasia 1
RS2507323944 TMEM231 Health Risk Pathogenic Meckel syndrome, type 11
RS2507328871 TMEM231 Health Risk Likely pathogenic Meckel syndrome, type 11
RS2507335922 DNAAF1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2507345386 DNAAF1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2507345875 HYDIN Health Risk Likely pathogenic Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
RS2507347123 TMEM231 Health Risk Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS2507355048 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia
RS2507355285 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2507356114 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2507357217 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2507357630 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2507367277 DNAAF1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2507367572 DNAAF1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2507370766 MLYCD Health Risk Pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS2507370774 MLYCD Health Risk Pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS2507370822 MLYCD Health Risk Pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS2507370941 MLYCD Health Risk Pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS2507371212 MLYCD Health Risk Pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS2507371773 MLYCD Health Risk Pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS2507380620 MLYCD Health Risk Likely pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS2507380638 MLYCD Health Risk Pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS2507380738 MLYCD Health Risk Pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS2507380841 MLYCD Health Risk Pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS2507382078 MLYCD Health Risk Pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS2507382113 MLYCD Health Risk Pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS2507382189 MLYCD Health Risk Pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS2507382260 MLYCD Health Risk Pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS2507382391 MLYCD Health Risk Pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS2507384602 UMOD Health Risk Likely pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS2507386350 UMOD Health Risk Likely pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS2507386812 UMOD Health Risk Likely pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS2507387073 UMOD Health Risk Pathogenic —
RS2507387531 MLYCD Health Risk Pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS2507387572 UMOD Health Risk Likely pathogenic —
RS2507387607 MLYCD Health Risk Pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS2507388032 UMOD Health Risk Pathogenic —
RS2507389035 UMOD Health Risk Likely pathogenic UMOD-related disorder, UMOD-related disorder
RS2507390142 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2507390389 UMOD Health Risk Pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS2507390595 UMOD Health Risk Likely pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS2507390910 UMOD Health Risk Conflicting classifications of pathogenicity UMOD-related disorder, Familial juvenile hyperuricemic nephropathy type 1
RS2507390949 UMOD Health Risk Likely pathogenic —
RS2507391033 UMOD Health Risk Likely pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS2507391567 UMOD Health Risk Pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS2507391645 UMOD Health Risk Pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS2507391791 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2507391940 MLYCD Health Risk Likely pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS2507392821 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2507394599 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2507395267 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2507400397 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2507402150 WWOX Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy
RS2507402547 HYDIN Health Risk Likely pathogenic Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
RS2507402611 FANCI Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2507406125 ZFHX3 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2507406750 WWOX Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS2507407106 WWOX Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 1
RS2507410551 UQCRC2 Health Risk Likely pathogenic Mitochondrial complex III deficiency nuclear type 5, Mitochondrial complex III deficiency nuclear type 5
RS2507421825 IFT140 Health Risk Pathogenic/Likely pathogenic Saldino-Mainzer syndrome, Retinitis pigmentosa
RS2507432053 DNAAF1 Health Risk Pathogenic/Likely pathogenic DNAAF1-related disorder, Primary ciliary dyskinesia
RS2507435768 VAC14 Health Risk Pathogenic —
RS2507436898 BAG5 Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2507438903 FANCI Health Risk Likely pathogenic Fanconi anemia, Neoplasm
RS2507440343 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2507445293 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2507450358 FOXF1 Health Risk Pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS2507450474 FOXF1 Health Risk Likely pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS2507450475 FOXF1 Health Risk Pathogenic —
RS2507450479 FOXF1 Health Risk Pathogenic See cases, See cases
RS2507450502 FOXF1 Health Risk Pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS2507450540 FOXF1 Health Risk Likely pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS2507450732 FOXF1 Health Risk Pathogenic —
RS2507451417 FOXF1 Health Risk Pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS2507451617 FOXF1 Health Risk Likely pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS2507454270 FOXF1 Health Risk Pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS2507477807 COA8 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 17
RS2507477930 COA8 Health Risk Likely pathogenic —
RS2507478587 COA8 Health Risk Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 17
RS2507492334 DNAAF1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2507505865 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2507512023 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2507513309 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2507514974 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2507521330 CYBA Health Risk Pathogenic Granulomatous disease, chronic
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