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
RS1688274473 COL3A1 Health Risk Likely pathogenic Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome, Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
RS1688293940 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1688304002 COL3A1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1688305296 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1688308445 CERKL Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS1688322272 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1688322811 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1688324714 GALNT3 Health Risk Likely pathogenic —
RS1688360581 SCN3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1688384382 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1688402212 COL3A1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1688417659 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1688418367 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1688419519 GALNT3 Health Risk Likely pathogenic —
RS1688433173 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS1688456281 RYR2 Health Risk Likely pathogenic Conduction disorder of the heart, Conduction disorder of the heart
RS1688479407 HECW2 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with hypotonia, seizures
RS1688479620 HECW2 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, seizures
RS1688481563 HECW2 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, seizures
RS1688487502 PROC Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein C deficiency, autosomal dominant
RS1688502787 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS1688507660 GALNT3 Health Risk Likely pathogenic —
RS1688528616 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1688529460 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1688530172 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1688532582 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1688544768 BMPR2 Health Risk Conflicting classifications of pathogenicity Pulmonary hypertension, primary
RS1688558323 GALNT3 Health Risk Likely pathogenic —
RS1688559190 BMPR2 Health Risk Pathogenic Primary pulmonary hypertension, Idiopathic and/or familial pulmonary arterial hypertension
RS1688559718 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1688560182 SMPD4 Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly, arthrogryposis
RS1688561621 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS1688561668 COL3A1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1688561706 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1688568929 BMPR2 Health Risk Pathogenic —
RS1688583785 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS1688586251 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1688619749 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1688630479 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS1688635593 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1688636055 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1688653833 CERKL Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinal dystrophy
RS1688654801 CERKL Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1688656690 CTLA4 Health Risk Pathogenic Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
RS1688657241 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1688663336 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1688667609 PROC Health Risk Likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS1688669245 PROC Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein C deficiency, autosomal dominant
RS1688675737 SMPD4 Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly, arthrogryposis
RS1688677671 PROC Health Risk Likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS1688692269 PROC Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein C deficiency, autosomal dominant
RS1688692415 PROC Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein C deficiency, autosomal dominant
RS1688706133 PROC Health Risk Pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS1688706297 PROC Health Risk Likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS1688711686 CTLA4 Health Risk Pathogenic Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
RS1688712720 CTLA4 Health Risk Pathogenic Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
RS1688714312 CTLA4 Health Risk Pathogenic Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
RS1688714490 CTLA4 Health Risk Pathogenic Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
RS1688714703 CTLA4 Health Risk Pathogenic Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
RS1688715336 CTLA4 Health Risk Pathogenic Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
RS1688716836 CTLA4 Health Risk Pathogenic Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
RS1688717281 CTLA4 Health Risk Pathogenic —
RS1688718864 CTLA4 Health Risk Pathogenic/Likely pathogenic Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Inborn genetic diseases
RS1688726478 SATB2 Health Risk Pathogenic —
RS1688726794 SATB2 Health Risk Pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS1688729428 CTLA4 Health Risk Pathogenic Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
RS1688730155 CTLA4 Health Risk Pathogenic —
RS1688730568 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1688731180 CTLA4 Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS1688732322 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1688736712 SATB2 Health Risk Likely pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS1688740919 SATB2 Health Risk Pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS1688794902 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1688812000 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1688921542 TTN Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1688922276 ITGAV Health Risk Pathogenic/Likely pathogenic IMMUNE DYSREGULATION, NEURODEVELOPMENTAL DEFECTS
RS1689007552 CERKL Health Risk Likely pathogenic Retinitis pigmentosa 26, Retinal dystrophy
RS1689010156 CERKL Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 26
RS1689011389 CERKL Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1689012192 CERKL Health Risk Pathogenic Cone-rod dystrophy, Cone-rod dystrophy
RS1689079381 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS1689136140 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1689139851 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1689142827 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1689146216 SCN1A Health Risk Pathogenic —
RS1689156608 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1689186812 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1689190343 SCN1A Health Risk Conflicting classifications of pathogenicity SCN1A-related epilepsy syndrome, recessive
RS1689200375 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1689207347 SCN1A Health Risk Likely pathogenic SCN1A-related channelopathy, SCN1A-related channelopathy
RS1689211569 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1689211960 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS16892134 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 6
RS1689218857 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1689226880 SCN1A Health Risk Likely pathogenic —
RS1689228485 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS1689240616 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1689241423 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1689242255 SCN1A Health Risk Pathogenic Migraine, familial hemiplegic
RS1689245014 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
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