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
RS1553541206 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553541218 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553541303 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS1553541329 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1
RS1553541464 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS1553541473 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1553541517 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553542017 NHEJ1 Health Risk Pathogenic Cernunnos-XLF deficiency, Cernunnos-XLF deficiency
RS1553542142 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1553542199 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553542262 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS1553542309 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553542378 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553542421 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS1553542669 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553542686 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553542773 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1553543148 SCN1A Health Risk Likely pathogenic —
RS1553543215 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS1553543316 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553543340 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS1553543413 TTN Health Risk Likely pathogenic 6 conditions, 6 conditions
RS1553543506 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1553543824 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553543828 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1553543921 ABCB11 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS1553544064 TTN Health Risk Likely pathogenic —
RS1553544102 SATB2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553544133 SATB2 Health Risk Pathogenic 6 conditions, 6 conditions
RS1553544158 SATB2 Health Risk Pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS1553544187 SATB2 Health Risk Pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS1553544470 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1553544559 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1553544579 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1553544667 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1553544821 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553545126 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553545522 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553545567 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1553545660 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553545704 SCN1A Health Risk Pathogenic Seizure, Generalized epilepsy with febrile seizures plus
RS1553545740 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1553545742 SCN1A Health Risk Pathogenic —
RS1553545923 ABCB11 Health Risk Likely pathogenic —
RS1553546045 PTH2R Health Risk Likely pathogenic Syndromic intellectual disability, Syndromic intellectual disability
RS1553546495 ABCB11 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553546668 SCN1A Health Risk Pathogenic Migraine, familial hemiplegic
RS1553546728 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1553546763 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553546789 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553546836 SCN1A Health Risk Pathogenic/Likely pathogenic Autosomal dominant epilepsy, Inborn genetic diseases
RS1553546975 SATB2 Health Risk Pathogenic —
RS1553546981 SCN1A Health Risk Pathogenic —
RS1553547055 SATB2 Health Risk Pathogenic —
RS1553547380 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553547403 SCN1A Health Risk Likely pathogenic —
RS1553547448 SCN1A Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Severe myoclonic epilepsy in infancy
RS1553547454 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1553547528 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1553547657 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS1553547838 SATB2 Health Risk Pathogenic Isolated cleft palate, Dystonic disorder
RS1553547885 SATB2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553547906 SATB2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553548018 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553548063 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS1553548096 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553548181 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553548194 SCN1A Health Risk Pathogenic/Likely pathogenic Obesity, Seizure
RS1553548207 NEB Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1553548393 NHEJ1 Health Risk Pathogenic —
RS1553548666 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1553548752 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553548771 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553549333 FARSB Health Risk Pathogenic Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Rajab interstitial lung disease with brain calcifications
RS1553549450 SCN1A Health Risk Pathogenic Epilepsy, Epilepsy
RS1553549461 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553549471 SCN1A Health Risk Pathogenic Early-infantile DEE, Severe myoclonic epilepsy in infancy
RS1553549483 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553549500 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553549660 SCN1A Health Risk Pathogenic Inborn genetic diseases, Generalized epilepsy with febrile seizures plus
RS1553549667 SCN1A Health Risk Pathogenic Migraine, familial hemiplegic
RS1553549679 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1553549717 SCN1A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553549834 SCN1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1553549845 SCN1A Health Risk Likely pathogenic —
RS1553549902 SCN1A Health Risk Likely pathogenic —
RS1553549997 SCN1A Health Risk Pathogenic —
RS1553550552 SCN1A Health Risk Likely pathogenic —
RS1553550574 SCN1A Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1553550618 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1553550625 SCN1A Health Risk Pathogenic —
RS1553551006 DYSF Health Risk Pathogenic Absent muscle fiber dysferlin, Foot dorsiflexor weakness
RS1553551304 SCN1A Health Risk Pathogenic —
RS1553551312 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1553551314 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1553551361 SCN1A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy 6B
RS1553551385 SCN1A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy 6B, Early-infantile DEE
RS1553551425 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553551463 SCN1A Health Risk Pathogenic —
RS1553551483 SCN1A Health Risk Likely pathogenic —
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