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
RS2473082110 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473082163 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473082189 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473082304 MME Health Risk Likely pathogenic —
RS2473092293 MME Health Risk Pathogenic —
RS2473092780 HPS3 Health Risk Likely pathogenic —
RS2473093098 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473093166 MME Health Risk Pathogenic —
RS2473093626 MME Health Risk Likely pathogenic —
RS2473099280 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473099287 HPS3 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473099293 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473099362 HPS3 Health Risk Pathogenic —
RS2473099407 IFT80 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2473099536 HPS3 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473099701 IFT80 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2473099711 HPS3 Health Risk Pathogenic —
RS2473100343 CACNA1D Health Risk Likely pathogenic See cases, See cases
RS2473100842 IFT80 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2473102754 HPS3 Health Risk Pathogenic —
RS2473107231 IFT80 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 2, Asphyxiating thoracic dystrophy 2
RS2473107383 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473107445 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473107472 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473107502 HPS3 Health Risk Pathogenic —
RS2473109713 HPS3 Health Risk Likely pathogenic —
RS2473109743 HPS3 Health Risk Pathogenic —
RS2473110376 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473110430 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473110523 HPS3 Health Risk Pathogenic —
RS2473112324 IFT80 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2473113411 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473114037 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473114195 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473114250 HPS3 Health Risk Pathogenic —
RS2473114256 HPS3 Health Risk Pathogenic —
RS2473119530 COL4A4 Health Risk Likely pathogenic —
RS2473120100 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473120193 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473120370 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473120616 HPS3 Health Risk Likely pathogenic HPS3-related disorder, HPS3-related disorder
RS2473120848 HPS3 Health Risk Pathogenic —
RS2473120938 HPS3 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473120947 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473120979 HPS3 Health Risk Likely pathogenic —
RS2473123528 HPS3 Health Risk Likely pathogenic —
RS2473124046 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473124121 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473124437 HPS3 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473124521 HPS3 Health Risk Pathogenic —
RS2473124553 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473124798 HPS3 Health Risk Likely pathogenic —
RS2473127082 ZIC1 Health Risk Likely pathogenic —
RS2473128423 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473128520 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473128577 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473128694 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2473128700 HPS3 Health Risk Pathogenic —
RS2473128888 HPS3 Health Risk Pathogenic —
RS2473134646 MME Health Risk Pathogenic —
RS2473142622 ATR Health Risk Likely pathogenic —
RS2473150513 MYBPC3 Health Risk Pathogenic Cardiomyopathy, Hypertrophic cardiomyopathy
RS2473156024 MME Health Risk Pathogenic —
RS2473156355 MME Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T
RS2473157747 ATR Health Risk Pathogenic —
RS2473158913 ATR Health Risk Pathogenic —
RS2473161338 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS2473161755 MME Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T
RS2473162385 MME Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T
RS2473171944 UGT1A1 Health Risk Pathogenic Lucey-Driscoll syndrome, Crigler-Najjar syndrome type 1
RS2473178464 MME Health Risk Pathogenic MME-related distal hereditary motor neuropathies, MME-related distal hereditary motor neuropathies
RS2473183978 SETD5 Health Risk Likely pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2473186223 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2473187772 SETD5 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2473203258 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2473205085 CASR Health Risk Pathogenic Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS2473205414 CASR Health Risk Pathogenic Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS2473205737 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Familial hypocalciuric hypercalcemia
RS2473205920 CASR Health Risk Likely pathogenic Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS2473211905 IFT80 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2473213918 CASR Health Risk Pathogenic Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS2473214136 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2473214934 CASR Health Risk Likely pathogenic CASR-related disorder, CASR-related disorder
RS2473215395 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Familial hypocalciuric hypercalcemia
RS2473215439 CASR Health Risk Likely pathogenic Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS2473217995 ATR Health Risk Pathogenic —
RS2473218529 SI Health Risk Pathogenic —
RS2473220795 PLOD2 Health Risk Likely pathogenic Bruck syndrome 2, Bruck syndrome 2
RS2473222978 PLOD2 Health Risk Pathogenic —
RS2473225113 CASR Health Risk Likely pathogenic CASR-related disorder, CASR-related disorder
RS2473225374 CASR Health Risk Likely pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2473225614 CASR Health Risk Likely pathogenic Familial hypocalciuric hypercalcemia 1, Familial hypocalciuric hypercalcemia 1
RS2473225653 CASR Health Risk Pathogenic Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS2473225928 CASR Health Risk Pathogenic Autosomal dominant hypocalcemia, Autosomal dominant hypocalcemia
RS2473226024 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2473226161 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2473226212 CASR Health Risk Pathogenic Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS2473226236 CASR Health Risk Pathogenic —
RS2473226409 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2473226965 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
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