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
RS2489292482 CDKN2A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial melanoma
RS2489293675 APTX Health Risk Likely pathogenic —
RS2489308738 SPAG1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2489323420 SPAG1 Health Risk Pathogenic Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28
RS2489325501 IFT74 Health Risk Likely pathogenic —
RS2489327427 CDKN2A Health Risk Pathogenic Melanoma-pancreatic cancer syndrome, Melanoma-pancreatic cancer syndrome
RS2489328224 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Melanoma-pancreatic cancer syndrome
RS2489331579 RIGI Health Risk Likely pathogenic RIGI-related disorder, RIGI-related disorder
RS2489335458 IFT74 Health Risk Pathogenic —
RS2489349339 SPAG1 Health Risk Pathogenic Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28
RS2489397090 CDKN2B Health Risk Likely pathogenic Malignant tumor of breast, Malignant tumor of breast
RS2489422392 IFT74 Health Risk Likely pathogenic —
RS2489423803 IFT74 Health Risk Pathogenic —
RS2489446259 TOPORS Health Risk Likely pathogenic —
RS2489446452 TOPORS Health Risk Pathogenic Retinitis pigmentosa 31, Retinitis pigmentosa 31
RS2489447196 SPAG1 Health Risk Likely pathogenic Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28
RS2489448115 APTX Health Risk Likely pathogenic Ataxia, early-onset
RS2489451154 CEP78 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy and hearing loss 1, Cone-rod dystrophy and hearing loss 1
RS2489453836 APTX Health Risk Pathogenic Ataxia, early-onset
RS2489471559 CEP78 Health Risk Pathogenic —
RS2489471624 CEP78 Health Risk Pathogenic —
RS2489493326 IFT74 Health Risk Likely pathogenic —
RS2489513250 SPAG1 Health Risk Pathogenic Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28
RS2489527464 CEP78 Health Risk Pathogenic —
RS2489528087 SMC5 Health Risk Pathogenic Atelis syndrome 2, Atelis syndrome 2
RS2489534334 CEP78 Health Risk Pathogenic —
RS2489556719 RORB Health Risk Pathogenic —
RS2489566711 RORB Health Risk Likely pathogenic —
RS2489566873 RORB Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2489566956 RORB Health Risk Likely pathogenic Epilepsy, idiopathic generalized
RS2489580480 GNE Health Risk Pathogenic GNE myopathy, Sialuria
RS2489580541 GNE Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS2489580920 GNE Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS2489583038 GNE Health Risk Conflicting classifications of pathogenicity Sialuria, GNE myopathy
RS2489583237 RORB Health Risk Likely pathogenic —
RS2489583296 RORB Health Risk Pathogenic —
RS2489583468 RORB Health Risk Pathogenic —
RS2489583729 GNE Health Risk Pathogenic GNE myopathy, Sialuria
RS2489583944 RORB Health Risk Pathogenic —
RS2489584021 APTX Health Risk Pathogenic —
RS2489584080 GNE Health Risk Pathogenic Sialuria, GNE myopathy
RS2489584226 RORB Health Risk Pathogenic —
RS2489584321 RORB Health Risk Pathogenic —
RS2489584567 RORB Health Risk Pathogenic —
RS2489584908 RORB Health Risk Likely pathogenic —
RS2489584914 RORB Health Risk Likely pathogenic —
RS2489587191 TMC1 Health Risk Pathogenic —
RS2489590578 GNE Health Risk Pathogenic GNE myopathy, Sialuria
RS2489590641 GNE Health Risk Pathogenic GNE myopathy, Sialuria
RS2489591319 GNE Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS2489591806 GNE Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS2489592662 GNE Health Risk Likely pathogenic Sialuria, GNE myopathy
RS2489624195 GNE Health Risk Pathogenic/Likely pathogenic GNE myopathy, Sialuria
RS2489625957 RORB Health Risk Conflicting classifications of pathogenicity —
RS2489626107 RORB Health Risk Pathogenic —
RS2489626297 RORB Health Risk Pathogenic —
RS2489629497 PSAT1 Health Risk Pathogenic Neu-Laxova syndrome 2, Neu-Laxova syndrome 2
RS2489629517 PSAT1 Health Risk Pathogenic/Likely pathogenic Neu-Laxova syndrome 2, PSAT deficiency
RS2489631969 GNE Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS2489633707 SPAG1 Health Risk Likely pathogenic Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28
RS2489633918 RORB Health Risk Likely pathogenic —
RS2489639626 RORB Health Risk Pathogenic Epilepsy, idiopathic generalized
RS2489639860 PSAT1 Health Risk Pathogenic Neu-Laxova syndrome 2, Neu-Laxova syndrome 2
RS2489640547 PSAT1 Health Risk Pathogenic Neu-Laxova syndrome 2, Neu-Laxova syndrome 2
RS2489644879 PSAT1 Health Risk Pathogenic PSAT1-related disorder, Neu-Laxova syndrome 2
RS2489645698 PSAT1 Health Risk Likely pathogenic PSAT1-related disorder, Neu-Laxova syndrome 2
RS2489648663 RORB Health Risk Conflicting classifications of pathogenicity Seizure, RORB-related disorder
RS2489648829 RORB Health Risk Pathogenic —
RS2489648843 RORB Health Risk Conflicting classifications of pathogenicity Seizure, Seizure
RS2489650770 PSAT1 Health Risk Likely pathogenic Neu-Laxova syndrome 2, Neu-Laxova syndrome 2
RS2489662458 GNE Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS2489663928 GNE Health Risk Pathogenic GNE myopathy, Sialuria
RS2489664378 GNE Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS2489677535 RFX3 Health Risk Likely pathogenic —
RS2489679993 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS2489680991 GNE Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS2489681092 GNE Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS2489681238 IFT74 Health Risk Likely pathogenic —
RS2489684511 RFX3 Health Risk Likely pathogenic RFX3-related disorder, RFX3-related disorder
RS2489688253 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS2489696870 PSAT1 Health Risk Pathogenic Neu-Laxova syndrome 2, Neu-Laxova syndrome 2
RS2489697040 PSAT1 Health Risk Pathogenic/Likely pathogenic PSAT1-related disorder, Neu-Laxova syndrome 2
RS2489715788 GNE Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS2489715838 GNE Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS2489716585 GNE Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS2489716716 GNE Health Risk Pathogenic GNE myopathy, Sialuria
RS2489717259 GNE Health Risk Pathogenic —
RS2489717397 GNE Health Risk Pathogenic/Likely pathogenic GNE myopathy, GNE myopathy
RS2489717760 GNE Health Risk Pathogenic GNE myopathy, Sialuria
RS2489718499 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS2489719092 TMC1 Health Risk Pathogenic —
RS2489719475 TMC1 Health Risk Pathogenic —
RS2489720722 IFT74 Health Risk Pathogenic —
RS2489733992 GNE Health Risk Pathogenic GNE myopathy, Sialuria
RS2489734182 TG Health Risk Likely pathogenic —
RS2489734471 GNE Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS2489735126 GNE Health Risk Likely pathogenic Sialuria, GNE myopathy
RS2489737917 TG Health Risk Pathogenic —
RS2489784650 MPDZ Health Risk Pathogenic —
RS2489785254 GNE Health Risk Likely pathogenic —
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