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
RS2523080343 SPEN Health Risk Likely pathogenic Radio-Tartaglia syndrome, Radio-Tartaglia syndrome
RS2523081142 SPEN Health Risk Pathogenic Radio-Tartaglia syndrome, Radio-Tartaglia syndrome
RS2523081439 SPEN Health Risk Pathogenic Radio-Tartaglia syndrome, Radio-Tartaglia syndrome
RS2523082174 SPEN Health Risk Pathogenic Myoepithelial tumor, Myoepithelial tumor
RS2523082824 BSND Health Risk Likely pathogenic —
RS2523082968 BSND Health Risk Pathogenic —
RS2523083336 BSND Health Risk Pathogenic —
RS2523084567 SPEN Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2523085373 SPEN Health Risk Pathogenic —
RS2523086867 SPEN Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Radio-Tartaglia syndrome
RS2523087999 SPEN Health Risk Pathogenic Radio-Tartaglia syndrome, Radio-Tartaglia syndrome
RS2523089310 SPEN Health Risk Likely pathogenic Radio-Tartaglia syndrome, Radio-Tartaglia syndrome
RS2523092247 MTOR Health Risk Conflicting classifications of pathogenicity —
RS2523093353 DOCK7 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 23
RS2523093503 SPEN Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2523093746 SPEN Health Risk Pathogenic —
RS2523094644 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2523095452 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2523095875 SPEN Health Risk Likely pathogenic SPEN-related disorder, SPEN-related disorder
RS2523096849 SPEN Health Risk Likely pathogenic Radio-Tartaglia syndrome, Radio-Tartaglia syndrome
RS2523097758 AIFM1 Health Risk Likely pathogenic Deafness, X-linked 5
RS2523099344 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2523099491 AIFM1 Health Risk Likely pathogenic Deafness, X-linked 5
RS2523102829 PLEKHG5 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS2523104459 AIFM1 Health Risk Pathogenic Auditory neuropathy spectrum disorder, Auditory neuropathy spectrum disorder
RS2523104783 PLEKHG5 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS2523110174 AIFM1 Health Risk Likely pathogenic Auditory neuropathy, Auditory neuropathy
RS2523110237 AIFM1 Health Risk Likely pathogenic Auditory neuropathy, Auditory neuropathy
RS2523111990 PLEKHG5 Health Risk Pathogenic Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy
RS2523112831 PLEKHG5 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS2523115231 PLEKHG5 Health Risk Likely pathogenic Neuronopathy, distal hereditary motor
RS2523115662 PLEKHG5 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS2523116140 PLEKHG5 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS2523116359 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2523117559 AIFM1 Health Risk Likely pathogenic Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X
RS2523118310 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2523119063 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2523119113 AIFM1 Health Risk Pathogenic Severe X-linked mitochondrial encephalomyopathy, Severe X-linked mitochondrial encephalomyopathy
RS2523119325 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2523120586 PLEKHG5 Health Risk Likely pathogenic Neuronopathy, distal hereditary motor
RS2523120985 AIFM1 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X
RS2523122538 DOCK7 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 23
RS2523122904 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2523123174 NPHP4 Health Risk Likely pathogenic Nephronophthisis 4, Nephronophthisis 4
RS2523126527 AIFM1 Health Risk Likely pathogenic Auditory neuropathy, Auditory neuropathy
RS2523127742 PLEKHG5 Health Risk Pathogenic Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy
RS2523128047 PLEKHG5 Health Risk Pathogenic Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy
RS2523130148 PLEKHG5 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS2523130896 PLEKHG5 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS2523131307 AIFM1 Health Risk Likely pathogenic Spondyloepimetaphyseal dysplasia, Bieganski type
RS2523131440 AIFM1 Health Risk Likely pathogenic Auditory neuropathy spectrum disorder, Auditory neuropathy spectrum disorder
RS2523134899 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2523136075 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Nonpapillary renal cell carcinoma
RS2523136653 PLEKHG5 Health Risk Likely pathogenic Neuronopathy, distal hereditary motor
RS2523137356 GNB1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 42
RS2523138636 PLEKHG5 Health Risk Likely pathogenic Neuronopathy, distal hereditary motor
RS2523142753 KDM6A Health Risk Likely pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2523146231 NPHP4 Health Risk Pathogenic NPHP4-related disorder, NPHP4-related disorder
RS2523146589 PLEKHG5 Health Risk Pathogenic Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy
RS2523146735 PLEKHG5 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS2523149242 PLEKHG5 Health Risk Likely pathogenic Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy
RS2523152103 SLC9A1 Health Risk Pathogenic —
RS2523157542 PLEKHG5 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS2523157602 PLEKHG5 Health Risk Likely pathogenic Neuronopathy, distal hereditary motor
RS2523162465 KDM6A Health Risk Pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2523168080 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2523168175 PLEKHG5 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS2523168546 PLEKHG5 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS2523172908 PLEKHG5 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS2523202045 GNB1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 42
RS2523206492 NEXN Health Risk Pathogenic Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20
RS2523207851 NEXN Health Risk Pathogenic Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC
RS2523208787 NEXN Health Risk Pathogenic Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC
RS2523208987 NEXN Health Risk Pathogenic Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC
RS2523209622 DEPDC5 Health Risk Likely pathogenic Epilepsy, familial focal
RS2523209714 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Epilepsy
RS2523210552 PLEKHG5 Health Risk Pathogenic Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy
RS2523210580 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2523223119 NEXN Health Risk Likely pathogenic Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20
RS2523226313 NPHP4 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2523226839 SET Health Risk Likely pathogenic Intellectual disability, autosomal dominant 58
RS2523228508 PCSK9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS2523229122 PLEKHG5 Health Risk Pathogenic Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy
RS2523229394 CT55 Health Risk Pathogenic Spermatogenic failure, X-linked
RS2523246933 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2523247994 NEXN Health Risk Pathogenic Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC
RS2523251101 ATP13A2 Health Risk Likely pathogenic Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
RS2523260558 G6PD Health Risk Likely pathogenic Anemia, nonspherocytic hemolytic
RS2523260637 G6PD Health Risk Conflicting classifications of pathogenicity Anemia, nonspherocytic hemolytic
RS2523260651 G6PD Health Risk Pathogenic Anemia, nonspherocytic hemolytic
RS2523260813 G6PD Health Risk Likely pathogenic Anemia, nonspherocytic hemolytic
RS2523261277 G6PD Health Risk Likely pathogenic Anemia, nonspherocytic hemolytic
RS2523261317 G6PD Health Risk Likely pathogenic Anemia, nonspherocytic hemolytic
RS2523261336 G6PD Health Risk Likely pathogenic Anemia, nonspherocytic hemolytic
RS2523261356 G6PD Health Risk Conflicting classifications of pathogenicity Anemia, nonspherocytic hemolytic
RS2523261737 G6PD Health Risk Likely pathogenic Anemia, nonspherocytic hemolytic
RS2523261744 G6PD Health Risk Pathogenic Anemia, nonspherocytic hemolytic
RS2523261771 G6PD Health Risk Likely pathogenic Anemia, nonspherocytic hemolytic
RS2523261785 G6PD Health Risk Likely pathogenic Anemia, nonspherocytic hemolytic
RS2523261790 G6PD Health Risk Likely pathogenic Anemia, nonspherocytic hemolytic
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