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
RS1559110846 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1559114055 PNPT1 Health Risk Pathogenic Combined oxidative phosphorylation defect type 13, Combined oxidative phosphorylation defect type 13
RS1559114202 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1559114303 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS1559114408 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS1559114837 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Developmental and epileptic encephalopathy
RS1559118914 SCN1A Health Risk Likely pathogenic Autosomal dominant epilepsy, Autosomal dominant epilepsy
RS1559118996 SCN1A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1559119345 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Inborn genetic diseases
RS1559120651 ABCA12 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 4B, Autosomal recessive congenital ichthyosis 4B
RS1559121920 BBS5 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1559122124 SCN1A Health Risk Conflicting classifications of pathogenicity Severe myoclonic epilepsy in infancy, Acute encephalopathy
RS1559122157 BBS5 Health Risk Likely pathogenic Bardet-Biedl syndrome 5, Bardet-Biedl syndrome
RS1559122263 SCN1A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1559122277 BBS5 Health Risk Likely pathogenic Bardet-Biedl syndrome 5, Bardet-Biedl syndrome 5
RS1559126736 BBS5 Health Risk Likely pathogenic Bardet-Biedl syndrome 5, Bardet-Biedl syndrome 5
RS1559127505 SCN1A Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Epilepsy
RS1559128483 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS1559128532 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1559129372 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS1559130635 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1559134341 ABCA12 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 4B, Autosomal recessive congenital ichthyosis 4B
RS1559136030 SATB2 Health Risk Conflicting classifications of pathogenicity Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS1559136245 SATB2 Health Risk Pathogenic/Likely pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS1559138079 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1559138455 SMARCAL1 Health Risk Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1559138957 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1559140110 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1559140155 SCN1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy 6B, Developmental and epileptic encephalopathy 6B
RS1559140306 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1559140855 SCN1A Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1559141367 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1559142152 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1559144583 SCN1A Health Risk Pathogenic Primary generalized epilepsy, Early-infantile DEE
RS1559144956 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1559147521 TTN Health Risk Likely pathogenic —
RS1559149128 SCN1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, Severe myoclonic epilepsy in infancy
RS1559151333 TTN Health Risk Likely pathogenic —
RS1559155162 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1559155954 OBSL1 Health Risk Pathogenic/Likely pathogenic 3M syndrome 1, 3M syndrome 2
RS1559159868 ITGA6 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS1559160379 OBSL1 Health Risk Pathogenic 3M syndrome 2, 3M syndrome 2
RS1559162681 DYSF Health Risk Pathogenic —
RS1559164234 SATB2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1559168230 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy, Nemaline myopathy 2
RS1559173391 TTN Health Risk Likely pathogenic Congenital titinopathy, Early-onset myopathy with fatal cardiomyopathy
RS1559175090 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1559175170 SATB2 Health Risk Pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS1559177278 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1559183490 ABCB11 Health Risk Pathogenic —
RS1559183717 ABCB11 Health Risk Pathogenic/Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS1559184972 ABCB11 Health Risk Pathogenic —
RS1559186257 DYSF Health Risk Pathogenic DYSF-related disorder, Autosomal recessive limb-girdle muscular dystrophy
RS1559187287 TTN Health Risk Likely pathogenic Myopathy, myofibrillar
RS1559190144 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1559192617 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1559193050 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1559193213 SCN1A Health Risk Pathogenic —
RS1559195296 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1559199628 SCN1A Health Risk Likely pathogenic Lung cancer, Early-infantile DEE
RS1559200525 TTN Health Risk Likely pathogenic —
RS1559200672 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1559200901 SCN1A Health Risk Likely pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy 6B
RS1559200975 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1559207733 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1559210063 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1559216207 DIS3L2 Health Risk Pathogenic Perlman syndrome, Perlman syndrome
RS1559216338 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1559216544 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1559217202 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1559217391 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1559218052 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1559218619 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1559220022 DIS3L2 Health Risk Pathogenic/Likely pathogenic Perlman syndrome, Perlman syndrome
RS1559220874 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1559221602 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1559221910 SCN1A Health Risk Pathogenic —
RS1559225495 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1559225974 COL6A3 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1559225993 COL6A3 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS1559228507 COL6A3 Health Risk Pathogenic —
RS1559229322 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1559231280 TRNT1 Health Risk Pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RS1559231284 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1559234260 COL6A3 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1559237625 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS1559238215 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS1559238432 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1559245286 DCAF17 Health Risk Pathogenic Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
RS1559245847 SCN1A Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 2
RS1559247315 SLC19A3 Health Risk Pathogenic/Likely pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS1559249734 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1559250774 SLC19A3 Health Risk Pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS1559252723 SLC19A3 Health Risk Pathogenic/Likely pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS1559253935 COL6A3 Health Risk Pathogenic —
RS1559255553 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1559257971 COL6A3 Health Risk Pathogenic —
RS1559261557 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1559262463 TTN Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS1559264135 DCAF17 Health Risk Pathogenic Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
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