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
RS199473600 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiac arrhythmia
RS199473601 SCN5A Health Risk Pathogenic —
RS199473603 SCN5A Health Risk Conflicting classifications of pathogenicity Congenital long QT syndrome, Long QT syndrome
RS199473605 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiac arrhythmia
RS199473606 SCN5A Health Risk Pathogenic —
RS199473613 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Brugada syndrome 1
RS199473618 SCN5A Health Risk Conflicting classifications of pathogenicity Congenital long QT syndrome, Long QT syndrome
RS199473620 SCN5A Health Risk Pathogenic/Likely pathogenic Brugada syndrome, Cardiovascular phenotype
RS199473623 SCN5A Health Risk Pathogenic/Likely pathogenic Brugada syndrome, Long QT syndrome 3
RS199473624 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS199473625 SCN5A Health Risk Conflicting classifications of pathogenicity Congenital long QT syndrome, Cardiovascular phenotype
RS199473628 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Brugada syndrome 1
RS199473629 SCN5A Health Risk Pathogenic Brugada syndrome, Brugada syndrome 1
RS199473631 SCN5A Health Risk Pathogenic Congenital long QT syndrome, SUDDEN INFANT DEATH SYNDROME
RS199473633 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiac arrhythmia
RS199473634 SCN5A Health Risk Conflicting classifications of pathogenicity Congenital long QT syndrome, Long QT syndrome
RS199473637 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, 8 conditions
RS199473638 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Progressive familial heart block
RS199473644 KCNE1 Health Risk Conflicting classifications of pathogenicity Congenital long QT syndrome, Long QT syndrome
RS199473645 KCNE1 Health Risk Conflicting classifications of pathogenicity Congenital long QT syndrome, Cardiovascular phenotype
RS199473646 KCNE1 Health Risk Likely pathogenic Congenital long QT syndrome, Long QT syndrome
RS199473648 KCNE2 Health Risk Conflicting classifications of pathogenicity Congenital long QT syndrome, Long QT syndrome
RS199473650 KCNJ2 Health Risk Pathogenic Andersen Tawil syndrome, Familial periodic paralysis
RS199473653 KCNJ2 Health Risk Pathogenic Congenital long QT syndrome, Andersen Tawil syndrome
RS199473654 KCNJ2 Health Risk Pathogenic/Likely pathogenic Congenital long QT syndrome, Andersen Tawil syndrome
RS199473655 KCNJ2 Health Risk Conflicting classifications of pathogenicity Congenital long QT syndrome, Andersen Tawil syndrome
RS199473660 CACNA1C Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Brugada syndrome (shorter-than-normal QT interval)
RS199473661 KCNQ1 Health Risk Likely pathogenic Congenital long QT syndrome, Long QT syndrome
RS199473662 KCNQ1 Health Risk Pathogenic/Likely pathogenic Congenital long QT syndrome, Cardiovascular phenotype
RS199473663 KCNQ1 Health Risk Conflicting classifications of pathogenicity Congenital long QT syndrome, Long QT syndrome
RS199473665 KCNH2 Health Risk Pathogenic Congenital long QT syndrome, Long QT syndrome 2
RS199473668 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 2, Cardiac arrhythmia
RS199473669 KCNH2 Health Risk Conflicting classifications of pathogenicity Congenital long QT syndrome, Long QT syndrome
RS199473670 KCNH2 Health Risk Conflicting classifications of pathogenicity Congenital long QT syndrome, Cardiovascular phenotype
RS199473673 CTC1 Health Risk Pathogenic Cerebroretinal microangiopathy with calcifications and cysts 1, Dyskeratosis congenita
RS199473674 CTC1 Health Risk Pathogenic Cerebroretinal microangiopathy with calcifications and cysts 1, Dyskeratosis congenita
RS199473675 CTC1 Health Risk Pathogenic Cerebroretinal microangiopathy with calcifications and cysts 1, Cerebroretinal microangiopathy with calcifications and cysts 1
RS199473676 CTC1 Health Risk Pathogenic Cerebroretinal microangiopathy with calcifications and cysts 1, Dyskeratosis congenita
RS199473677 CTC1 Health Risk Pathogenic/Likely pathogenic Cerebroretinal microangiopathy with calcifications and cysts 1, Dyskeratosis congenita
RS199473678 CTC1 Health Risk Conflicting classifications of pathogenicity Cerebroretinal microangiopathy with calcifications and cysts 1, Dyskeratosis congenita
RS199473679 CTC1 Health Risk Pathogenic Cerebroretinal microangiopathy with calcifications and cysts 1, Dyskeratosis congenita
RS199473680 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS199473682 CTC1 Health Risk Pathogenic/Likely pathogenic Cerebroretinal microangiopathy with calcifications and cysts 1, Dyskeratosis congenita
RS199473684 GLA Health Risk Pathogenic Fabry disease, cardiac variant
RS199473690 DNMT1 Health Risk Pathogenic/Likely pathogenic Hereditary sensory neuropathy-deafness-dementia syndrome, Charcot-Marie-Tooth disease
RS199473691 DNMT1 Health Risk Pathogenic Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS199473692 DNMT1 Health Risk Pathogenic Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS199473693 ADAMTSL4 Health Risk Pathogenic Ectopia lentis et pupillae, Ectopia lentis 2
RS199473704 TRPV3 Health Risk Pathogenic Olmsted syndrome 1, Olmsted syndrome 1
RS199473705 TRPV3 Health Risk Pathogenic Olmsted syndrome 1, Olmsted syndrome 1
RS199474657 MT-TL1 Health Risk Likely pathogenic MELAS syndrome, Age related macular degeneration 2
RS199474658 MT-TL1 Health Risk Pathogenic MELAS syndrome, MERRF syndrome
RS199474659 MT-TL1 Health Risk Likely pathogenic MERRF syndrome, Diabetes mellitus
RS199474660 MT-TL1 Health Risk Likely pathogenic MELAS syndrome, Mitochondrial disease
RS199474661 MT-TL1 Health Risk Likely pathogenic Mitochondrial encephalomyopathy, MELAS syndrome
RS199474662 MT-TL1 Health Risk Likely pathogenic Progressive external ophthalmoplegia, proximal myopathy
RS199474663 MT-TL1 Health Risk Likely pathogenic MELAS syndrome, Mitochondrial disease
RS199474672 MT-TW Health Risk Pathogenic Mitochondrial encephalopathy, Leigh syndrome
RS199474673 MT-TW Health Risk Likely pathogenic Inborn mitochondrial myopathy, MELAS syndrome
RS199474676 RAG1 Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS199474677 RAG1 Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS199474678 RAG1 Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS199474679 RAG1 Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency due to partial RAG1 deficiency, Severe combined immunodeficiency disease
RS199474680 RAG1 Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS199474681 RAG1 Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS199474682 RAG1 Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS199474684 RAG1 Health Risk Pathogenic/Likely pathogenic Histiocytic medullary reticulosis, Severe combined immunodeficiency
RS199474685 RAG1 Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS199474686 RAG1 Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS199474687 RAG1 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive
RS199474688 RAG1 Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS199474689 RAG1 Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS199474690 RAG1 Health Risk Conflicting classifications of pathogenicity —
RS199474692 NKX2-1 Health Risk Pathogenic Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome
RS199474693 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
RS199474695 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS199474696 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS199474697 CNGA3 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia
RS199474699 MT-TP Health Risk Likely pathogenic Myopathy, Mitochondrial disease
RS199474703 MYL3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 8, Cardiomyopathy
RS199474705 MYL3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS199474706 MYL3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 8
RS199474707 MYL3 Health Risk Conflicting classifications of pathogenicity Increased left ventricular wall thickness, Hypertrophic cardiomyopathy
RS199474713 TPM3 Health Risk Likely pathogenic Congenital myopathy with fiber type disproportion, Congenital myopathy 4B
RS199474719 TPM3 Health Risk Pathogenic Congenital myopathy 4B, autosomal recessive
RS199474720 TPM3 Health Risk Likely pathogenic Congenital myopathy 4B, autosomal recessive
RS199474721 TNNT3 Health Risk Likely pathogenic Arthrogryposis, distal
RS199474722 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS199474723 SOD1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS199474724 LMNA Health Risk Likely pathogenic Emery-Dreifuss muscular dystrophy 2, autosomal dominant
RS199474727 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS199474728 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS199474729 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS199474730 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS199474731 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS199474732 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS199474733 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS199474734 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS199474735 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS199474737 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
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