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
RS1553551493 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Developmental and epileptic encephalopathy 6B
RS1553551498 SCN1A Health Risk Pathogenic —
RS1553551595 NEB Health Risk Pathogenic —
RS1553551647 SATB2 Health Risk Pathogenic —
RS1553551650 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553551651 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1553551705 SATB2 Health Risk Pathogenic Inborn genetic diseases, Chromosome 2q32-q33 deletion syndrome
RS1553551748 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1553551874 DIS3L2 Health Risk Likely pathogenic Nephroblastoma, Nephroblastoma
RS1553552310 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553552319 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1553552378 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1553552384 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1553552390 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553552413 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1553553086 FARSB Health Risk Pathogenic Cirrhosis of liver, Cerebral calcification
RS1553553248 COL6A3 Health Risk Likely pathogenic —
RS1553553267 COL6A3 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1553553313 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1553553327 COL6A3 Health Risk Pathogenic/Likely pathogenic Ullrich congenital muscular dystrophy 1A, Ullrich congenital muscular dystrophy 1A
RS1553553462 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS1553553485 SCN1A Health Risk Pathogenic Febrile seizure (within the age range of 3 months to 6 years), Febrile seizure (within the age range of 3 months to 6 years)
RS1553553527 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS1553553593 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1553553614 SCN1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1553553625 COL6A3 Health Risk Likely pathogenic Inborn genetic diseases, Bethlem myopathy 1A
RS1553553646 COL6A3 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1553553671 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553553888 DYSF Health Risk Pathogenic —
RS1553553943 DYSF Health Risk Pathogenic —
RS1553554007 TRNT1 Health Risk Pathogenic/Likely pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RS1553554298 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1553554384 COL6A3 Health Risk Pathogenic —
RS1553554543 FARSB Health Risk Pathogenic Cirrhosis of liver, Cerebral calcification
RS1553555585 DYSF Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1
RS1553555768 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553555882 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS1553555919 TTN Health Risk Likely pathogenic —
RS1553556116 DYSF Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy
RS1553556154 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553556275 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553557405 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553557696 COL6A3 Health Risk Likely pathogenic —
RS1553558398 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553560676 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1553560677 SCN1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, Early-infantile DEE
RS1553560710 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1553560740 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1553560760 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553560766 SCN1A Health Risk Likely pathogenic Sudden unexplained death in childhood, Sudden unexplained death in childhood
RS1553560785 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553560831 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1553560951 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553561016 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553561023 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553561211 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1553561409 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1553561525 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553561665 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553561697 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1553562022 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553562490 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553562753 TTN Health Risk Likely pathogenic Primary familial dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS1553562793 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553563398 ERBB4 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553563519 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553564078 ATP2B2 Health Risk Pathogenic/Likely pathogenic —
RS1553564139 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS1553564141 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS1553564144 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS1553564213 SCN2A Health Risk Pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS1553564400 SCN2A Health Risk Pathogenic Inborn genetic diseases, Complex neurodevelopmental disorder
RS1553564589 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1553564693 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553564694 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1553565140 TWIST2 Health Risk Pathogenic Ablepharon macrostomia syndrome, Inborn genetic diseases
RS1553565143 TWIST2 Health Risk Pathogenic Barber-Say syndrome, Barber-Say syndrome
RS1553565278 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1553565316 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS1553565463 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS1553566820 ECEL1 Health Risk Likely pathogenic Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
RS1553567130 SCN2A Health Risk Likely pathogenic Seizures, benign familial infantile
RS1553567304 SCN2A Health Risk Pathogenic —
RS1553567347 SCN2A Health Risk Likely pathogenic —
RS1553567381 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS1553567409 SCN2A Health Risk Pathogenic/Likely pathogenic Seizures, benign familial infantile
RS1553567411 ECEL1 Health Risk Likely pathogenic Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
RS1553567473 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS1553567561 SCN2A Health Risk Likely pathogenic Seizures, benign familial infantile
RS1553567622 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553567864 SCN2A Health Risk Pathogenic/Likely pathogenic Intellectual disability, Epilepsy
RS1553567936 SCN2A Health Risk Pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1553567937 ECEL1 Health Risk Pathogenic Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
RS1553567991 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS1553568004 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS1553568045 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS1553568092 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS1553568167 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553568249 SLC19A3 Health Risk Pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS1553568357 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
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