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
RS2472946351 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2472950680 UGT1A1 Health Risk Likely pathogenic BILIRUBIN, SERUM LEVEL OF
RS2472953740 SLC33A1 Health Risk Conflicting classifications of pathogenicity SLC33A1-related disorder, Spastic paraplegia
RS2472956769 UGT1A1 Health Risk Likely pathogenic Crigler-Najjar syndrome, type II
RS2472966631 SETD5 Health Risk Pathogenic —
RS2472967212 MME Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T
RS2472968407 SETD5 Health Risk Pathogenic —
RS2472968843 SETD5 Health Risk Likely pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2472973234 MME Health Risk Likely pathogenic —
RS2472974805 MME Health Risk Likely pathogenic —
RS2472975711 MME Health Risk Pathogenic —
RS2472976219 SETD5 Health Risk Likely pathogenic —
RS2472988765 ADCY5 Health Risk Likely pathogenic Dyskinesia with orofacial involvement, autosomal dominant
RS2472996373 SDHA Health Risk Pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS2472996488 TTN Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2472996722 SETD5 Health Risk Pathogenic —
RS2473003981 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2473005339 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2473006353 COL4A4 Health Risk Pathogenic —
RS2473006423 COL4A4 Health Risk Pathogenic —
RS2473007651 COL4A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Hematuria
RS2473007820 COL4A4 Health Risk Pathogenic —
RS2473008834 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2473010935 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Hematuria
RS2473017875 CACNA1D Health Risk Pathogenic —
RS2473020544 SEC61A1 Health Risk Likely pathogenic Hyperuricemic nephropathy, familial juvenile type 4
RS2473020552 SEC61A1 Health Risk Pathogenic Neutropenia, severe congenital
RS2473021300 CHEK2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2473027178 POGLUT1 Health Risk Pathogenic —
RS2473027210 POGLUT1 Health Risk Pathogenic —
RS2473028057 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2473036325 GFM1 Health Risk Likely pathogenic —
RS2473036507 GFM1 Health Risk Pathogenic/Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS2473036525 GFM1 Health Risk Pathogenic —
RS2473037328 GFM1 Health Risk Likely pathogenic GFM1-related disorder, GFM1-related disorder
RS2473040267 POGLUT1 Health Risk Pathogenic —
RS2473044613 HPS3 Health Risk Pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473044980 HPS3 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473045204 HPS3 Health Risk Pathogenic —
RS2473045218 HPS3 Health Risk Pathogenic —
RS2473045365 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473045386 HPS3 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473045397 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS2473045441 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473045787 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473045892 SEC61A1 Health Risk Pathogenic Immunodeficiency, common variable
RS2473046112 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS2473057222 MME Health Risk Likely pathogenic MME-related disorder, MME-related disorder
RS2473061402 TIMMDC1 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 1
RS2473061411 TIMMDC1 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 31
RS2473064132 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS2473064367 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS2473065142 MME Health Risk Likely pathogenic —
RS2473065199 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2473065347 ATR Health Risk Pathogenic —
RS2473067623 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473067970 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473068029 GFM1 Health Risk Likely pathogenic —
RS2473068114 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473068223 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473068323 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473068670 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473069079 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473069109 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473069116 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473069141 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473069249 HPS3 Health Risk Pathogenic —
RS2473069453 HPS3 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome
RS2473069493 HPS3 Health Risk Pathogenic —
RS2473069504 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473069629 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473069885 HPS3 Health Risk Pathogenic —
RS2473069907 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473070199 IFT80 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2473070242 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473072237 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473072416 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473072438 HPS3 Health Risk Pathogenic —
RS2473072448 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473072455 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473072537 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473072769 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473072828 HPS3 Health Risk Pathogenic —
RS2473072847 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473072963 MME Health Risk Likely pathogenic —
RS2473073314 MME Health Risk Pathogenic —
RS2473073532 HPS3 Health Risk Pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473073611 MME Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T
RS2473073701 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473073722 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473073727 HPS3 Health Risk Pathogenic —
RS2473073776 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473073824 MME Health Risk Likely pathogenic —
RS2473073837 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473074693 MME Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T
RS2473075038 MME Health Risk Likely pathogenic —
RS2473081587 HPS3 Health Risk Likely pathogenic —
RS2473081667 HPS3 Health Risk Pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473081922 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473082063 HPS3 Health Risk Pathogenic —
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