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
RS2151924068 CNOT1 Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2151924296 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2151925569 TCF12 Health Risk Pathogenic TCF12-related craniosynostosis, Squamous cell lung carcinoma
RS2151929089 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS2151929143 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS2151930031 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS2151930039 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS2151931178 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS2151931733 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS2151931748 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS2151931799 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS2151932243 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS2151932291 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS2151933961 TCF12 Health Risk Pathogenic —
RS2151934194 WWOX Health Risk Likely pathogenic Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy
RS2151935061 EVC Health Risk Pathogenic —
RS2151935449 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2151935987 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2151938056 EMC1 Health Risk Pathogenic —
RS2151938077 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151938387 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151940462 CNOT1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2151940628 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2151941712 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151941780 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2151941841 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151943036 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151945937 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2151945944 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS2151946081 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2151947953 EMC1 Health Risk Pathogenic —
RS2151947969 EMC1 Health Risk Likely pathogenic —
RS2151949366 EMC1 Health Risk Likely pathogenic —
RS2151952121 EMC1 Health Risk Likely pathogenic —
RS2151953467 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2151953686 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151955874 EMC1 Health Risk Pathogenic —
RS2151958278 EMC1 Health Risk Pathogenic —
RS2151962465 EMC1 Health Risk Likely pathogenic —
RS2151962965 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151963411 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151970377 EMC1 Health Risk Pathogenic —
RS2151976617 CNOT1 Health Risk Likely pathogenic Vissers-Bodmer syndrome, Vissers-Bodmer syndrome
RS2151977668 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, DNAH5-related disorder
RS2151977768 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151980137 CNOT1 Health Risk Pathogenic —
RS2151981122 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151981160 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS2151981226 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151984285 CNOT1 Health Risk Conflicting classifications of pathogenicity See cases, Vissers-Bodmer syndrome
RS2151986932 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151992604 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151992688 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151995373 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS2151995564 LRBA Health Risk Pathogenic —
RS2151997211 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2152000498 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2152001027 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2152003792 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2152003795 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2152003822 PRPH2;UBR2 Health Risk Pathogenic Multifocal pattern dystrophy simulating fundus flavimaculatus, Retinal dystrophy
RS2152003847 PRPH2 Health Risk Pathogenic PRPH2-related disorder, Choroidal dystrophy
RS2152003863 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2152003876 PRPH2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2152005174 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2152005182 PRPH2 Health Risk Pathogenic Vitelliform macular dystrophy 3, Vitelliform macular dystrophy 3
RS2152005226 PRPH2 Health Risk Pathogenic —
RS2152005235 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2152005243 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2152005247 PRPH2 Health Risk Pathogenic —
RS2152005248 PRPH2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 7, Retinal dystrophy
RS2152005253 PRPH2 Health Risk Pathogenic —
RS2152005260 PRPH2 Health Risk Likely pathogenic —
RS2152005268 PRPH2 Health Risk Likely pathogenic —
RS2152005272 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2152005280 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2152005308 PRPH2 Health Risk Likely pathogenic —
RS2152005313 PRPH2 Health Risk Likely pathogenic —
RS2152005317 PRPH2 Health Risk Pathogenic —
RS2152005323 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2152005328 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2152005339 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2152005343 PRPH2 Health Risk Likely pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2152005352 PRPH2 Health Risk Pathogenic/Likely pathogenic PRPH2-related disorder, Retinal dystrophy
RS2152005360 PRPH2 Health Risk Pathogenic —
RS2152005362 PRPH2 Health Risk Likely pathogenic —
RS2152005372 PRPH2 Health Risk Pathogenic —
RS2152005405 PRPH2 Health Risk Pathogenic —
RS2152005417 PRPH2 Health Risk Pathogenic Retinal dystrophy, PRPH2-related disorder
RS2152009015 TCF12 Health Risk Pathogenic —
RS2152010844 PRPH2 Health Risk Conflicting classifications of pathogenicity Patterned macular dystrophy 1, PRPH2-related disorder
RS2152010848 PRPH2 Health Risk Pathogenic PRPH2-related disorder, Retinal dystrophy
RS2152010856 PRPH2 Health Risk Likely pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2152010859 PRPH2 Health Risk Pathogenic/Likely pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2152010877 PRPH2 Health Risk Pathogenic Choroidal dystrophy, central areolar 2
RS2152010886 PRPH2 Health Risk Likely pathogenic —
RS2152010898 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2152010899 PRPH2 Health Risk Pathogenic —
RS2152010904 PRPH2 Health Risk Pathogenic PRPH2-related disorder, Vitelliform macular dystrophy 3
RS2152010910 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
« Prev 1 ... 1951 1952 1953 1954 1955 1956 1957 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →