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
RS1558995457 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1558998118 TTN Health Risk Likely pathogenic —
RS1558999342 SCN9A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neuropathy
RS1558999779 TTN Health Risk Likely pathogenic —
RS1559003939 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1559007960 STAT1 Health Risk Likely pathogenic Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS1559011859 STAT1 Health Risk Pathogenic Immunodeficiency 31B, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS1559016679 SATB2 Health Risk Pathogenic/Likely pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS1559019204 STAT1 Health Risk Pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS1559021086 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
RS1559021640 DYSF Health Risk Likely pathogenic —
RS1559024613 FSIP2 Health Risk Pathogenic Spermatogenic failure 34, Spermatogenic failure 34
RS1559025141 FSIP2 Health Risk Pathogenic Spermatogenic failure 34, Spermatogenic failure 34
RS1559027674 SCN9A Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS1559030991 SCN9A Health Risk Likely pathogenic Neuropathy, hereditary sensory and autonomic
RS1559031280 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1559033148 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1559033550 TTN Health Risk Pathogenic/Likely pathogenic —
RS1559034750 FSIP2 Health Risk Pathogenic Spermatogenic failure 34, Spermatogenic failure 34
RS1559035738 PEX13 Health Risk Pathogenic Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
RS1559035937 ICOS Health Risk Likely pathogenic Immunodeficiency, common variable
RS1559037565 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1559039815 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1559043276 LRP2 Health Risk Pathogenic Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS1559043866 NPHP1 Health Risk Likely pathogenic Joubert syndrome with renal defect, Joubert syndrome with renal defect
RS1559044465 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1559047521 NDUFS1 Health Risk Likely pathogenic Leigh syndrome, Leigh syndrome
RS1559047711 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1559050685 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1559051231 TTN Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS1559052017 SATB2 Health Risk Pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS1559052032 SATB2 Health Risk Pathogenic Chromosome 2q32-q33 deletion syndrome, Inborn genetic diseases
RS1559052053 SATB2 Health Risk Pathogenic —
RS1559052551 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS1559052609 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1559053022 COL3A1 Health Risk Likely pathogenic Familial aortopathy, Familial aortopathy
RS1559053603 DYSF Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1559053784 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1559053862 TTC21B Health Risk Pathogenic Nephronophthisis, Jeune thoracic dystrophy
RS1559054653 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1559055162 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1559056179 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS1559056438 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1559056621 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1559056633 TTC21B Health Risk Pathogenic/Likely pathogenic Nephronophthisis 12, Nephronophthisis 12
RS1559057346 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1559057405 DYSF Health Risk Pathogenic Miyoshi muscular dystrophy 1, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1559058482 COL3A1 Health Risk Pathogenic Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome, Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
RS1559058551 COL3A1 Health Risk Pathogenic —
RS1559058970 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1559059873 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1559059936 TBR1 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with autism and speech delay, Inborn genetic diseases
RS1559060412 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1559060428 TBR1 Health Risk Pathogenic Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay
RS1559061242 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1559061674 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1559061706 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1559061716 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1559061954 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1559062859 BMPR2 Health Risk Pathogenic Primary pulmonary hypertension, Primary pulmonary hypertension
RS1559063681 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1559065297 DYSF Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1559065845 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS1559070248 BMPR2 Health Risk Pathogenic —
RS1559070958 COL5A2 Health Risk Likely pathogenic Keratoconus, Keratoconus
RS1559071558 TTN Health Risk Likely pathogenic —
RS1559072042 CERKL Health Risk Pathogenic —
RS1559073178 BMPR2 Health Risk Pathogenic Primary pulmonary hypertension, Primary pulmonary hypertension
RS1559075003 TTC21B Health Risk Pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS1559076883 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1559079166 TTN Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS1559079887 DYSF Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1559080091 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1559081633 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS1559085550 MBD5 Health Risk Pathogenic —
RS1559085564 COL5A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1559085578 COL5A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1559086213 MBD5 Health Risk Pathogenic —
RS1559087186 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS1559090282 NPHP1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1559092256 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS1559093497 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1559094461 PNPT1 Health Risk Pathogenic Combined oxidative phosphorylation defect type 13, Combined oxidative phosphorylation defect type 13
RS1559094754 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS1559099927 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS1559100385 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1559100465 CERKL Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS1559100639 DYSF Health Risk Pathogenic —
RS1559101585 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1559101839 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS1559103294 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1559104199 COL5A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1559104676 SCN1A Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 2
RS1559105301 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1559105368 SCN1A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1559106126 SCN1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy 6B, Developmental and epileptic encephalopathy 6B
RS1559107162 ABCA12 Health Risk Likely pathogenic —
RS1559108136 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1559109621 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1559110544 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
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