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
RS1696928123 OBSL1 Health Risk Likely pathogenic —
RS1696928201 PIKFYVE Health Risk Likely pathogenic —
RS1696928206 ADAR Health Risk Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS1696930196 PNPT1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 70, PNPT1-related disorder
RS1696976315 STT3B Health Risk Pathogenic STT3B-congenital disorder of glycosylation, STT3B-congenital disorder of glycosylation
RS16969925 SCN1B Health Risk Pathogenic/Likely pathogenic Atrial fibrillation, familial
RS16969926 SCN1B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 5, Brugada syndrome 5
RS1697077852 TTN Health Risk Likely pathogenic Cardiomyopathy, Dilated cardiomyopathy 1G
RS1697105934 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1697127484 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1697134047 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1697138071 GLB1 Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-B
RS1697143129 GLB1 Health Risk Pathogenic —
RS1697157422 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1697160366 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1697164036 SCN1A Health Risk Pathogenic —
RS1697186082 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS1697194864 SLC6A1;SLC6A1-AS1 Health Risk Pathogenic —
RS1697195476 SLC6A1;SLC6A1-AS1 Health Risk Pathogenic —
RS1697195588 SLC6A1;SLC6A1-AS1 Health Risk Pathogenic —
RS1697195703 SLC6A1;SLC6A1-AS1 Health Risk Pathogenic —
RS1697197329 SLC6A1 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS1697197599 SLC6A1 Health Risk Pathogenic Inborn genetic diseases, Epilepsy with myoclonic atonic seizures
RS1697219158 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Heart defect - tongue hamartoma - polysyndactyly syndrome
RS1697221045 SLC6A1 Health Risk Conflicting classifications of pathogenicity Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS1697221269 SCN2A Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1697224249 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS1697224468 SCN2A Health Risk Pathogenic Intellectual disability, Developmental and epileptic encephalopathy
RS1697225194 MYO1B Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS1697255114 GLB1 Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-B
RS1697260724 KLHL40 Health Risk Pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS1697261615 SLC6A1 Health Risk Pathogenic Seizure, Seizure
RS1697263091 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS1697264007 SLC6A1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, SLC6A1-related disorder
RS1697271674 SCN9A Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS1697272149 SCN2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1697272829 SCN2A Health Risk Likely pathogenic Complex neurodevelopmental disorder, Seizures
RS1697273920 SCN2A Health Risk Likely pathogenic —
RS1697277352 SCN9A Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS1697277384 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1697296215 SCN1A Health Risk Conflicting classifications of pathogenicity SUDDEN INFANT DEATH SYNDROME, Inborn genetic diseases
RS1697297091 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1697309952 OBSL1 Health Risk Likely pathogenic —
RS1697311515 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1697311700 SCN2A Health Risk Pathogenic Complex neurodevelopmental disorder, Developmental and epileptic encephalopathy
RS1697317440 OBSL1 Health Risk Pathogenic —
RS1697319420 EDAR Health Risk Likely pathogenic Ectodermal dysplasia 10A, hypohidrotic/hair/nail type
RS1697319878 KLHL40 Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS1697322263 EDAR Health Risk Pathogenic Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type
RS1697325895 SCN1A-AS1;SCN9A Health Risk Pathogenic —
RS1697328487 SCN9A Health Risk Likely pathogenic Neuropathy, hereditary sensory and autonomic
RS1697334156 GLB1 Health Risk Likely pathogenic GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis
RS1697335361 GLB1 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-B
RS1697337518 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS1697337524 EDAR Health Risk Conflicting classifications of pathogenicity Ectodermal dysplasia 10A, hypohidrotic/hair/nail type
RS1697338499 GLB1 Health Risk Pathogenic GM1 gangliosidosis, GM1 gangliosidosis
RS1697345011 UGT1A1 Health Risk Pathogenic UGT1A1-related disorder, UGT1A1-related disorder
RS1697360061 SCN2A Health Risk Conflicting classifications of pathogenicity Complex neurodevelopmental disorder, Developmental and epileptic encephalopathy
RS1697361835 SCN2A Health Risk Likely pathogenic —
RS1697364805 SCN2A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 11
RS1697364931 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS1697365096 TTN Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS1697371244 ZNF142 Health Risk Pathogenic Neurodevelopmental disorder with impaired speech and hyperkinetic movements, Neurodevelopmental disorder with impaired speech and hyperkinetic movements
RS1697407694 PNPT1 Health Risk Likely pathogenic —
RS1697433995 SCN1A Health Risk Likely pathogenic Migraine, familial hemiplegic
RS1697439559 SLC6A1 Health Risk Conflicting classifications of pathogenicity Epilepsy with myoclonic atonic seizures, See cases
RS1697439746 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1697440060 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS1697441834 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1697443771 SLC6A1 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1697444014 SLC6A1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1697444489 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS1697458345 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1697464108 SCN1A Health Risk Pathogenic —
RS1697464755 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS1697465574 SCN2A Health Risk Likely pathogenic —
RS1697473667 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1697477844 ZNF142 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1697479557 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1697532441 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1697566111 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS1697567984 SCN2A Health Risk Likely pathogenic Inborn genetic diseases, Complex neurodevelopmental disorder
RS1697569199 SCN2A Health Risk Pathogenic —
RS1697569337 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS1697578690 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1697584614 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS1697595705 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1A, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1697605792 UGT1A1 Health Risk Pathogenic UGT1A1-related disorder, UGT1A1-related disorder
RS1697611007 ADAR Health Risk Pathogenic —
RS1697632671 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1697640966 SCN1A Health Risk Pathogenic —
RS1697645789 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS1697647054 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1697657932 SCN9A Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS1697667767 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1697674296 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1697695664 SCN2A Health Risk Pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS1697702086 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS1697748409 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS1697771953 TRAF3IP1 Health Risk Likely pathogenic —
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