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
RS2469153502 COL3A1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2469153717 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS2469154239 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS2469154289 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469154798 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469155018 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469155156 ABCA12 Health Risk Pathogenic —
RS2469155508 TTN Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2469155697 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2469155739 TTN Health Risk Likely pathogenic —
RS2469155866 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2469155949 CPS1 Health Risk Likely pathogenic Pulmonary hypertension, neonatal
RS2469155984 CPS1 Health Risk Pathogenic Pulmonary hypertension, neonatal
RS2469156053 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2469156496 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469157686 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS2469158014 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469158167 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469158173 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469158238 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469158240 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469159422 ABCA12 Health Risk Pathogenic —
RS2469159525 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469159535 COL3A1 Health Risk Pathogenic —
RS2469161837 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469162364 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS2469162607 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469162978 COL3A1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2469163029 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469163132 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS2469163518 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2469163629 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS2469163948 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS2469164030 CPS1 Health Risk Likely pathogenic Pulmonary hypertension, neonatal
RS2469164069 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS2469164095 CPS1 Health Risk Pathogenic Pulmonary hypertension, neonatal
RS2469164155 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2469165958 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS2469166242 COL3A1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2469166555 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS2469168148 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469168482 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469168673 ABCA12 Health Risk Pathogenic —
RS2469168948 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2469169172 ABCA12 Health Risk Pathogenic —
RS2469169214 COL3A1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2469169298 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS2469169661 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2469169855 CPS1 Health Risk Likely pathogenic Pulmonary hypertension, neonatal
RS2469170038 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS2469170173 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469170821 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS2469171098 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469171107 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469171572 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469172612 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS2469172850 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS2469173117 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469173135 TTN Health Risk Pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS2469173765 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469174200 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469175870 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2469176015 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2469176105 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469176505 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469176720 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469178279 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469178597 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS2469179791 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469180395 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469181316 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469185166 CUL3 Health Risk Pathogenic —
RS2469186375 CPS1 Health Risk Likely pathogenic Pulmonary hypertension, neonatal
RS2469186568 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2469186636 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS2469186694 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS2469186731 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS2469186735 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS2469186899 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS2469186938 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2469186967 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469187115 TTN;TTN-AS1 Health Risk Likely pathogenic —
RS2469187129 CPS1 Health Risk Likely pathogenic Pulmonary hypertension, neonatal
RS2469191582 ABCA12 Health Risk Likely pathogenic —
RS2469191842 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2469191971 ABCA12 Health Risk Likely pathogenic —
RS2469196259 PAX3 Health Risk Likely pathogenic PAX3-related disorder, PAX3-related disorder
RS2469197157 PAX3 Health Risk Pathogenic —
RS2469197395 PAX3 Health Risk Likely pathogenic —
RS2469199404 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2469200858 ABCA12 Health Risk Likely pathogenic —
RS2469201143 ABCA12 Health Risk Pathogenic —
RS2469203256 REEP1 Health Risk Likely pathogenic Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31
RS2469210131 ABCA12 Health Risk Pathogenic —
RS2469212363 ABCA12 Health Risk Pathogenic —
RS2469212409 ABCA12 Health Risk Pathogenic —
RS2469220935 ABCA12 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 4B, Autosomal recessive congenital ichthyosis 4B
RS2469221127 ABCA12 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 4A, Autosomal recessive congenital ichthyosis 4A
RS2469221207 ABCA12 Health Risk Likely pathogenic Lamellar ichthyosis, Lamellar ichthyosis
RS2469225427 EPHA4 Health Risk Likely pathogenic See cases, See cases
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