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
RS2108184013 HPS3 Health Risk Pathogenic —
RS2108184065 HPS3 Health Risk Pathogenic —
RS2108184492 HPS3 Health Risk Pathogenic —
RS2108184819 HPS3 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 3
RS2108197026 PROK2 Health Risk Pathogenic —
RS2108197244 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2108197325 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2108197348 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2108197377 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2108199978 ZBTB20 Health Risk Likely pathogenic —
RS2108200372 ZBTB20 Health Risk Pathogenic Primrose syndrome, Primrose syndrome
RS2108202121 ZBTB20 Health Risk Likely pathogenic Primrose syndrome, Primrose syndrome
RS2108202378 SI Health Risk Pathogenic/Likely pathogenic Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS2108202536 ZBTB20 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2108205808 SI Health Risk Pathogenic —
RS2108207488 ZBTB20 Health Risk Likely pathogenic Primrose syndrome, Primrose syndrome
RS2108208811 PCCB Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS2108210412 GMPPB Health Risk Likely pathogenic —
RS2108210963 GMPPB Health Risk Likely pathogenic —
RS2108211362 GMPPB Health Risk Likely pathogenic Abnormality of the musculature, Abnormality of the musculature
RS2108211501 GMPPB Health Risk Likely pathogenic —
RS2108213393 GMPPB Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2T, Autosomal recessive limb-girdle muscular dystrophy type 2T
RS2108217077 SI Health Risk Pathogenic Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS2108219188 SI Health Risk Pathogenic Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS2108222774 SI Health Risk Pathogenic —
RS2108226567 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2108226643 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2108226666 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2108226720 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS2108230432 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS2108234807 IFT80 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2108235127 BCHE Health Risk Likely pathogenic Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS2108237784 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2108237854 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2108237867 PCCB Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS2108238365 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2108238464 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2108239069 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2108239135 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2108240287 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2108240653 IFT80 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2108241656 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2108242515 PLD1 Health Risk Pathogenic —
RS2108244261 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS2108244550 SLC2A2 Health Risk Likely pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS2108249442 CLDN11 Health Risk Pathogenic Leukodystrophy, hypomyelinating
RS2108256953 SLC2A2 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS2108257635 ATR Health Risk Pathogenic —
RS2108261555 MME Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T
RS2108266332 ATR Health Risk Likely pathogenic Seckel syndrome 1, Seckel syndrome 1
RS2108269869 ADCY5 Health Risk Likely pathogenic —
RS2108273387 MYLK Health Risk Pathogenic Aortic aneurysm, familial thoracic 7
RS2108273583 MYLK Health Risk Pathogenic Aortic aneurysm, familial thoracic 7
RS2108277143 IFT80 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2108279172 ATR Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2108279740 RSRC1 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 70
RS2108301637 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS2108303574 MME Health Risk Pathogenic —
RS2108307852 MME Health Risk Pathogenic —
RS2108308008 MME Health Risk Pathogenic —
RS2108311256 IFT122 Health Risk Pathogenic Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS2108311768 ATR Health Risk Likely pathogenic —
RS2108311839 MME Health Risk Likely pathogenic —
RS2108312675 MME Health Risk Likely pathogenic Spinocerebellar ataxia 43, Spinocerebellar ataxia 43
RS2108315303 MME Health Risk Pathogenic —
RS2108325656 MME Health Risk Pathogenic —
RS2108328020 IFT122 Health Risk Likely pathogenic Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS2108333550 ATR Health Risk Pathogenic —
RS2108333799 ATR Health Risk Pathogenic —
RS2108335952 ATR Health Risk Pathogenic —
RS2108336968 ATR Health Risk Pathogenic —
RS2108340106 MYLK Health Risk Pathogenic Aortic aneurysm, familial thoracic 7
RS2108346361 ATP2C1 Health Risk Pathogenic —
RS2108351820 ATR Health Risk Pathogenic —
RS2108361083 ATR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2108361316 ATR Health Risk Pathogenic —
RS2108361393 ATR Health Risk Pathogenic —
RS2108361516 ATR Health Risk Likely pathogenic —
RS2108362424 IFT80 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2108363227 PDCD10 Health Risk Pathogenic Cerebral cavernous malformation 3, Cerebral cavernous malformation 3
RS2108366317 MME Health Risk Pathogenic —
RS2108372267 ADCY5 Health Risk Pathogenic Dyskinesia with orofacial involvement, autosomal dominant
RS2108372289 ADCY5 Health Risk Likely pathogenic —
RS2108373966 PDCD10 Health Risk Pathogenic Cerebral cavernous malformation 3, Cerebral cavernous malformation 3
RS2108375192 PDCD10 Health Risk Pathogenic Cerebral cavernous malformation 3, Cerebral cavernous malformation 3
RS2108378323 TBL1XR1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 41
RS2108384208 ADCY5 Health Risk Pathogenic Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia
RS2108385065 PIK3CA Health Risk Likely pathogenic —
RS2108390250 PIK3CA Health Risk Likely pathogenic CLOVES syndrome, CLOVES syndrome
RS2108390731 ADCY5 Health Risk Likely pathogenic Dyskinesia with orofacial involvement, autosomal recessive
RS2108399800 ATR Health Risk Likely pathogenic —
RS2108400575 PIK3CA Health Risk Pathogenic —
RS2108403745 PDCD10 Health Risk Pathogenic Cerebral cavernous malformation 3, Cerebral cavernous malformation 3
RS2108404264 IFT80 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2108404522 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2108406611 CCDC39 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 14, Primary ciliary dyskinesia 14
RS2108407721 TBL1XR1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 41
RS2108407962 TBL1XR1 Health Risk Pathogenic Pierpont syndrome, Pierpont syndrome
RS2108408029 TBL1XR1 Health Risk Pathogenic —
RS2108408372 PIK3CA Health Risk Pathogenic —
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