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
RS2469118099 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469118287 CPS1 Health Risk Likely pathogenic Pulmonary hypertension, neonatal
RS2469118675 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469120410 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469120517 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469120721 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS2469120731 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS2469120980 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS2469122024 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469123111 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469123781 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS2469123884 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS2469124806 COL3A1 Health Risk Likely pathogenic —
RS2469125950 COL3A1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2469126009 COL3A1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS2469126181 ABCA12 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 4A, Autosomal recessive congenital ichthyosis 4A
RS2469126287 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469127680 CPS1 Health Risk Pathogenic Pulmonary hypertension, neonatal
RS2469127879 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2469127914 COL3A1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2469127921 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469129125 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469129452 COL3A1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS2469129498 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469129512 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469130010 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469130111 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469130264 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS2469130364 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469130761 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469133020 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469133056 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS2469133074 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS2469133091 COL3A1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2469134005 COL3A1 Health Risk Likely pathogenic COL3A1-related disorder, COL3A1-related disorder
RS2469134030 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469134090 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469134106 ABCA12 Health Risk Likely pathogenic —
RS2469134592 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469135270 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469135281 TTN Health Risk Likely pathogenic —
RS2469135354 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469135450 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469136211 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2469136520 CPS1 Health Risk Likely pathogenic Pulmonary hypertension, neonatal
RS2469136580 CPS1 Health Risk Likely pathogenic Pulmonary hypertension, neonatal
RS2469137282 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469137619 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469137653 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469137695 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469138091 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469138099 COL3A1 Health Risk Likely pathogenic COL3A1-related disorder, COL3A1-related disorder
RS2469138123 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469138189 COL3A1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS2469138288 COL3A1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2469138327 ABCA12 Health Risk Likely pathogenic —
RS2469139427 ABCA12 Health Risk Likely pathogenic —
RS2469139432 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS2469139434 ABCA12 Health Risk Likely pathogenic —
RS2469140251 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469141143 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS2469141701 TTN Health Risk Likely pathogenic —
RS2469142626 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469143353 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469143498 COL3A1 Health Risk Likely pathogenic COL3A1-related disorder, COL3A1-related disorder
RS2469143500 COL3A1 Health Risk Likely pathogenic —
RS2469143989 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469144147 COL3A1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2469145031 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS2469145265 WDPCP Health Risk Likely pathogenic Heart defect - tongue hamartoma - polysyndactyly syndrome, Heart defect - tongue hamartoma - polysyndactyly syndrome
RS2469146316 ABCA12 Health Risk Likely pathogenic —
RS2469146553 ABCA12 Health Risk Likely pathogenic Lamellar ichthyosis, Lamellar ichthyosis
RS2469146777 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2469146865 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS2469146883 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469146910 CPS1 Health Risk Pathogenic Pulmonary hypertension, neonatal
RS2469146969 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2469147177 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2469147609 TTN Health Risk Likely pathogenic Hypertrophic cardiomyopathy 9, Tibial muscular dystrophy
RS2469147656 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469147659 CPS1 Health Risk Likely pathogenic Pulmonary hypertension, neonatal
RS2469147714 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469148059 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469148127 COL3A1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2469148128 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469149355 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS2469149367 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469149427 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469149468 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469149693 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469150511 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2469150531 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2469150591 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2469150656 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469151306 CPS1 Health Risk Likely pathogenic Pulmonary hypertension, neonatal
RS2469152092 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469152222 COL3A1 Health Risk Pathogenic —
RS2469152253 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS2469152579 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469153261 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
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