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
RS2490918969 LHX3 Health Risk Pathogenic/Likely pathogenic Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities
RS2490926165 LHX3 Health Risk Pathogenic —
RS2490926232 LHX3 Health Risk Pathogenic —
RS2490926406 LHX3 Health Risk Pathogenic —
RS2490930223 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2490930881 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2490932279 TGFBR1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2490935380 ADAMTSL2 Health Risk Likely pathogenic Lethal short-limb skeletal dysplasia, Al Gazali type
RS2490935545 SPOUT1 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder with poor growth
RS2490938188 MUSK Health Risk Likely pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS2490938695 MUSK Health Risk Likely pathogenic Congenital myasthenic syndrome 9, Congenital myasthenic syndrome 9
RS2490945732 KCNT1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 14
RS2490946434 CCDC183 Health Risk Likely pathogenic See cases, See cases
RS2490952104 IARS1 Health Risk Pathogenic Growth retardation, intellectual developmental disorder
RS2490953083 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2490967067 PHKG2 Health Risk Pathogenic Glycogen storage disease IXc, Glycogen storage disease IXc
RS2490994680 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS2490999610 PTPA Health Risk Pathogenic Parkinson disease 25, autosomal recessive early-onset
RS2491010908 KCNT1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 14
RS2491012385 TG Health Risk Pathogenic —
RS2491014056 TG Health Risk Likely pathogenic —
RS2491023589 KCNT1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 14
RS2491028292 COL27A1 Health Risk Pathogenic —
RS2491029345 NPR2 Health Risk Likely pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS2491029660 NPR2 Health Risk Pathogenic Short stature with nonspecific skeletal abnormalities, Short stature with nonspecific skeletal abnormalities
RS2491031578 NPR2 Health Risk Pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS2491034194 TG Health Risk Likely pathogenic —
RS2491035032 TG Health Risk Likely pathogenic TG-related disorder, TG-related disorder
RS2491037793 KCNT1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 14
RS2491038117 KCNT1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 14
RS2491038179 KCNT1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 14
RS2491044026 NPR2 Health Risk Likely pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS2491045089 NPR2 Health Risk Conflicting classifications of pathogenicity Short stature with nonspecific skeletal abnormalities, Acromesomelic dysplasia 1
RS2491046098 KCNT1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 14
RS2491046518 KCNT1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 14
RS2491047604 ADAMTS13 Health Risk Pathogenic Thrombotic thrombocytopenic purpura, Thrombotic thrombocytopenic purpura
RS2491048213 MUSK Health Risk Likely pathogenic Congenital myasthenic syndrome 9, Congenital myasthenic syndrome 9
RS2491048992 MUSK Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS2491049875 NPR2 Health Risk Pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS2491052121 ITGA8 Health Risk Likely pathogenic Renal hypodysplasia/aplasia 1, Renal hypodysplasia/aplasia 1
RS2491053131 NPR2 Health Risk Pathogenic NPR2-related disorder, NPR2-related disorder
RS2491056549 TRIM32 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy
RS2491057309 TRIM32 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2491057357 TRIM32 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2491058742 TRIM32 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2491060020 TRIM32 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2491060192 TRIM32 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2491061793 TRIM32 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2491062333 TRIM32 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2491063018 TRIM32 Health Risk Likely pathogenic Bardet-Biedl syndrome 11, Bardet-Biedl syndrome 11
RS2491063414 TRIM32 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2491063429 TRIM32 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2491063488 TRIM32 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2491063751 NPR2 Health Risk Pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS2491063775 IARS1 Health Risk Pathogenic —
RS2491067015 TRIM32 Health Risk Likely pathogenic —
RS2491068324 TRIM32 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2491068460 TRIM32 Health Risk Likely pathogenic Sarcotubular myopathy, Bardet-Biedl syndrome 11
RS2491068644 TRIM32 Health Risk Likely pathogenic —
RS2491075513 NPR2 Health Risk Pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS2491077769 NPR2 Health Risk Pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS2491078631 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS2491079 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2491080 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS2491080250 UBAP1 Health Risk Pathogenic Spastic paraplegia 80, autosomal dominant
RS2491093547 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2491093552 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2491093863 COL5A1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2491096235 MUSK Health Risk Likely pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS2491096625 ADAMTS13 Health Risk Likely pathogenic —
RS2491098000 MUSK Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS2491098868 MUSK Health Risk Likely pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS2491101006 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS2491103284 ADAMTS13 Health Risk Pathogenic Thrombotic thrombocytopenic purpura, Thrombotic thrombocytopenic purpura
RS2491104190 MUSK Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS2491109427 COL27A1 Health Risk Pathogenic —
RS2491114233 TG Health Risk Pathogenic Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS2491116289 CUBN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS2491122657 FRMD4A Health Risk Likely pathogenic Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome, Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
RS2491124231 ADAMTS13 Health Risk Likely pathogenic ADAMTS13-related disorder, ADAMTS13-related disorder
RS2491124706 ADAMTS13 Health Risk Pathogenic —
RS2491125172 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS2491125282 ADAMTS13 Health Risk Pathogenic —
RS2491125768 ADAMTS13 Health Risk Pathogenic —
RS2491132 SDC3 Health Risk association Obesity, association with
RS2491145256 COL27A1 Health Risk Likely pathogenic —
RS2491146787 MUSK Health Risk Pathogenic Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS2491147739 MUSK Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS2491148034 MUSK Health Risk Likely pathogenic Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS2491151455 MUSK Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS2491157416 CUBN Health Risk Pathogenic Proteinuria, chronic benign
RS2491160372 CUBN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS2491164601 ADAMTS13 Health Risk Likely pathogenic ADAMTS13-related disorder, ADAMTS13-related disorder
RS2491166486 MUSK Health Risk Pathogenic Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS2491166668 MUSK Health Risk Pathogenic Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS2491169378 ARFGEF1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2491192231 INVS Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS2491192423 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2491192429 INVS Health Risk Pathogenic Infantile nephronophthisis, Infantile nephronophthisis
RS2491192475 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
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