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
RS2092912932 NAGLU Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS2092914076 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS2092920511 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS2092925480 NAGLU Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS2092925958 NAGLU Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS2092926507 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS2092926516 NAGLU Health Risk Likely pathogenic —
RS2092926604 UNC80 Health Risk Likely pathogenic —
RS2092928057 NAGLU Health Risk Pathogenic —
RS2092928624 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS2092930339 NAGLU Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS2092930484 NAGLU Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS2092930640 IGH;IGHM Health Risk Likely pathogenic Autosomal recessive agammaglobulinemia 1, Autosomal recessive agammaglobulinemia 1
RS2092933941 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2092939625 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2092939869 PKD1 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2092939979 PKD1 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS2092940490 PKD1 Health Risk Pathogenic —
RS2092941002 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2092941027 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2092941062 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2092941253 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2092941432 PKD1 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2092986219 DEPDC5 Health Risk Pathogenic Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS2092992348 COASY Health Risk Pathogenic Neurodegeneration with brain iron accumulation 6, Neurodegeneration with brain iron accumulation 6
RS2092996974 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS2093000714 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2093001133 COASY Health Risk Pathogenic Neurodegeneration with brain iron accumulation 6, Neurodegeneration with brain iron accumulation 6
RS2093032018 UNC80 Health Risk Pathogenic —
RS2093045125 PSMC3IP Health Risk Pathogenic Ovarian dysgenesis 3, Ovarian dysgenesis 3
RS2093122605 DEPDC5 Health Risk Pathogenic —
RS2093126233 TRAF7 Health Risk Likely pathogenic —
RS2093132159 TRAF7 Health Risk Pathogenic/Likely pathogenic TRAF7-related disorder, Cardiac
RS2093135960 TRAF7 Health Risk Pathogenic/Likely pathogenic Cardiac, facial
RS2093148818 TTN Health Risk Likely pathogenic Myopathy, myofibrillar
RS2093158866 TTN Health Risk Pathogenic Centronuclear myopathy, Centronuclear myopathy
RS2093189899 DYSF Health Risk Pathogenic Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy
RS2093194038 CLN6 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2093199030 CLN6 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2093204342 CLN6 Health Risk Likely pathogenic Adult neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis
RS2093204407 CLN6 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2093205953 CLN6 Health Risk Likely pathogenic Adult neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis
RS2093207581 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2093214695 CLN6 Health Risk Likely pathogenic Adult neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis
RS2093220811 DYSF Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS2093221854 KMT2C Health Risk Pathogenic Rare genetic intellectual disability, Kleefstra syndrome 2
RS2093222376 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1
RS2093229974 QRICH1 Health Risk Likely pathogenic Ververi-Brady syndrome, Ververi-Brady syndrome
RS2093231242 KMT2C Health Risk Pathogenic Neurodevelopmental abnormality, Autism spectrum disorder
RS2093235396 KMT2C Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 2
RS2093252843 QRICH1 Health Risk Pathogenic Mild intellectual disability, Ververi-Brady syndrome
RS2093252866 QRICH1 Health Risk Likely pathogenic Ververi-Brady syndrome, Ververi-Brady syndrome
RS2093262385 CLN6 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2093262507 CLN6 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2093262869 CLN6 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis
RS2093280280 MYO18B Health Risk Likely pathogenic —
RS2093332969 RIMS2 Health Risk Pathogenic Cone-rod synaptic disorder syndrome, congenital nonprogressive
RS2093334853 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2093339890 NEB Health Risk Likely pathogenic Nemaline myopathy, Nemaline myopathy
RS2093352256 STIM1 Health Risk Likely pathogenic Myopathy, tubular aggregate
RS2093406628 QRICH1 Health Risk Pathogenic —
RS2093408453 QRICH1 Health Risk Conflicting classifications of pathogenicity Ververi-Brady syndrome, Ververi-Brady syndrome
RS2093408575 QRICH1 Health Risk Pathogenic Intellectual disability, Ververi-Brady syndrome
RS2093410241 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2093411936 QRICH1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2093412592 QRICH1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2093414203 KMT2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2093435062 KMT2C Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 2, Kleefstra syndrome 2
RS2093437797 KMT2C Health Risk Pathogenic —
RS2093442517 EMC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cerebellar atrophy
RS2093445172 UNC80 Health Risk Conflicting classifications of pathogenicity Hypotonia, infantile
RS2093462674 DYSF Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2093464314 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1
RS2093486364 DEPDC5 Health Risk Pathogenic/Likely pathogenic Epilepsy, Epilepsy
RS2093489078 KMT2C Health Risk Likely pathogenic Kleefstra syndrome 2, Kleefstra syndrome 2
RS2093489538 DEPDC5 Health Risk Pathogenic —
RS2093531358 DYSF Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS2093531900 DYSF Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2093533157 EMC1 Health Risk Pathogenic —
RS2093571190 FCHO1 Health Risk Pathogenic Severe congenital neutropenia, Immunodeficiency 76
RS2093575654 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2093588528 EMC1 Health Risk Likely pathogenic —
RS2093597511 EMC1 Health Risk Pathogenic —
RS2093611226 EMC1 Health Risk Likely pathogenic —
RS2093614668 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2093617332 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2093618217 EMC1 Health Risk Pathogenic —
RS2093621567 RBFOX1 Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS2093649055 ABCA3 Health Risk Likely pathogenic Interstitial lung disease 2, Interstitial lung disease 2
RS2093650935 ABCA3 Health Risk Pathogenic Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS2093652593 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2093654880 ABCA3 Health Risk Pathogenic Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS2093657764 ABCA3 Health Risk Pathogenic Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis
RS2093657780 ABCA3 Health Risk Pathogenic —
RS2093657978 ABCA3 Health Risk Likely pathogenic Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS2093658427 KMT2C Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2093658825 EMC1 Health Risk Likely pathogenic —
RS2093663770 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS2093669726 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2093682532 ABCA3 Health Risk Pathogenic Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
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