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
RS2510077754 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510078765 ITGA2B Health Risk Likely pathogenic ITGA2B-related disorder, ITGA2B-related disorder
RS2510078797 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510079259 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510079291 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510079502 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510079522 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510079586 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510079782 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510080068 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510080382 TANC2 Health Risk Likely pathogenic Intellectual developmental disorder with autistic features and language delay, with or without seizures
RS2510080503 ITGA2B Health Risk Likely pathogenic ITGA2B-related disorder, ITGA2B-related disorder
RS2510080622 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510082300 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510082644 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510082649 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510083090 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510083326 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510083991 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia 1, Glanzmann thrombasthenia 1
RS2510084207 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510084269 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510084724 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510084868 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510084880 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510085106 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2510085154 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510085199 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS2510085242 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia 1, Glanzmann thrombasthenia
RS2510085252 SLC12A6 Health Risk Pathogenic —
RS2510085296 SLC12A6 Health Risk Pathogenic —
RS2510085305 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS2510085323 SMCHD1 Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2510085373 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510085513 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510085546 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510085780 LAMA1 Health Risk Likely pathogenic —
RS2510086646 SLC12A6 Health Risk Pathogenic —
RS2510086719 SLC12A6 Health Risk Pathogenic —
RS2510087925 TBCD Health Risk Likely pathogenic —
RS2510087960 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510088074 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510088109 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS2510088557 TBCD Health Risk Pathogenic —
RS2510088678 TBCD Health Risk Pathogenic —
RS2510089206 LAMA1 Health Risk Pathogenic LAMA1-related disorder, LAMA1-related disorder
RS2510091792 LAMA1 Health Risk Pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS2510096294 LAMA1 Health Risk Pathogenic —
RS2510097246 SMCHD1 Health Risk Likely pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2510098307 TANC2 Health Risk Likely pathogenic Intellectual developmental disorder with autistic features and language delay, with or without seizures
RS2510102579 BPTF Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
RS2510103152 SMCHD1 Health Risk Likely pathogenic —
RS2510109572 LAMA1 Health Risk Pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS2510110238 SMCHD1 Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2510110251 SMCHD1 Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2510118137 PYCR1 Health Risk Pathogenic —
RS2510120701 PYCR1 Health Risk Pathogenic/Likely pathogenic Cutis laxa, Cutis laxa
RS2510120727 PYCR1 Health Risk Pathogenic Cutis laxa, Cutis laxa
RS2510122804 SMCHD1 Health Risk Pathogenic/Likely pathogenic —
RS2510150838 SMCHD1 Health Risk Likely pathogenic —
RS2510151392 NDUFV2 Health Risk Likely pathogenic —
RS2510152204 SMCHD1 Health Risk Likely pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2510152222 SMCHD1 Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS2510155571 NDUFV2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2510155602 NDUFV2 Health Risk Pathogenic —
RS2510156483 SMCHD1 Health Risk Likely pathogenic —
RS2510180471 SMCHD1 Health Risk Likely pathogenic —
RS2510196039 RAC3 Health Risk Pathogenic Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
RS2510205603 TANC2 Health Risk Pathogenic Intellectual developmental disorder with autistic features and language delay, with or without seizures
RS2510211807 MTCL1 Health Risk Pathogenic Cerebellar ataxia, Cerebellar ataxia
RS2510213796 TUBB6 Health Risk Likely pathogenic Ptosis, Ptosis
RS2510220484 AFG3L2 Health Risk Likely pathogenic Spinocerebellar ataxia type 28, Spinocerebellar ataxia type 28
RS2510220593 AFG3L2 Health Risk Pathogenic —
RS2510223754 AFG3L2 Health Risk Likely pathogenic Spastic ataxia 5, Spastic ataxia 5
RS2510225840 PIGW Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 5, Hyperphosphatasia with intellectual disability syndrome 5
RS2510226231 PIGW Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 5, Hyperphosphatasia with intellectual disability syndrome 5
RS2510230443 AFG3L2 Health Risk Pathogenic —
RS2510233343 AFG3L2 Health Risk Pathogenic —
RS2510234186 PIEZO2 Health Risk Likely pathogenic Marden-Walker syndrome, Marden-Walker syndrome
RS2510238432 PIEZO2 Health Risk Likely pathogenic Arthrogryposis, distal
RS2510238970 ATP6V0A1 Health Risk Pathogenic Developmental and epileptic encephalopathy 104, Developmental and epileptic encephalopathy 104
RS2510244017 ATP6V0A1 Health Risk Pathogenic Neurodevelopmental disorder with epilepsy and brain atrophy, Neurodevelopmental disorder with epilepsy and brain atrophy
RS2510246095 LPIN2 Health Risk Likely pathogenic Majeed syndrome, Majeed syndrome
RS2510249341 LPIN2 Health Risk Pathogenic Majeed syndrome, Majeed syndrome
RS2510249351 LPIN2 Health Risk Pathogenic Majeed syndrome, Majeed syndrome
RS2510253000 TBCD Health Risk Pathogenic —
RS2510256104 PIEZO2 Health Risk Likely pathogenic Arthrogryposis, distal
RS2510257285 PIEZO2 Health Risk Likely pathogenic PIEZO2-related disorder, PIEZO2-related disorder
RS2510259475 GNAL Health Risk Pathogenic Dystonic disorder, Dystonic disorder
RS2510260408 GNAL Health Risk Likely pathogenic —
RS2510266165 LPIN2 Health Risk Likely pathogenic Majeed syndrome, Majeed syndrome
RS2510266170 LPIN2 Health Risk Likely pathogenic Majeed syndrome, Majeed syndrome
RS2510267437 LPIN2 Health Risk Pathogenic Majeed syndrome, Majeed syndrome
RS2510271888 ATP6V0A1 Health Risk Pathogenic Developmental and epileptic encephalopathy 104, Developmental and epileptic encephalopathy 104
RS2510272028 PIEZO2 Health Risk Likely pathogenic Arthrogryposis, distal
RS2510280879 PIEZO2 Health Risk Likely pathogenic PIEZO2-related disorder, PIEZO2-related disorder
RS2510282875 LPIN2 Health Risk Pathogenic Majeed syndrome, Majeed syndrome
RS2510283811 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2510284153 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2510284231 TANC2 Health Risk Pathogenic —
RS2510284280 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
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