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
RS2469230940 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469233687 ABCA12 Health Risk Likely pathogenic —
RS2469233860 ABCA12 Health Risk Pathogenic —
RS2469236276 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS2469237353 ABCA12 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 4B, Autosomal recessive congenital ichthyosis 4B
RS2469239373 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469239891 COL5A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2469240863 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469244230 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2469244621 TTN Health Risk Pathogenic 6 conditions, 6 conditions
RS2469245062 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469245248 ABCA12 Health Risk Likely pathogenic —
RS2469245309 ABCA12 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 4A, Autosomal recessive congenital ichthyosis 4A
RS2469245464 ABCA12 Health Risk Pathogenic —
RS2469246822 COL5A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2469248532 ABCA12 Health Risk Pathogenic —
RS2469249189 PAX3 Health Risk Likely pathogenic PAX3-related disorder, PAX3-related disorder
RS2469249675 WDPCP Health Risk Likely pathogenic Heart defect - tongue hamartoma - polysyndactyly syndrome, Heart defect - tongue hamartoma - polysyndactyly syndrome
RS2469252164 PAX3 Health Risk Pathogenic —
RS2469252662 PAX3 Health Risk Likely pathogenic PAX3-related disorder, PAX3-related disorder
RS2469252725 PAX3 Health Risk Pathogenic —
RS2469252734 PAX3 Health Risk Pathogenic —
RS2469257301 ABCA12 Health Risk Pathogenic —
RS2469257789 ABCA12 Health Risk Pathogenic Ichthyosis and erythrokeratoderma, Ichthyosis and erythrokeratoderma
RS2469258335 CPS1 Health Risk Likely pathogenic Pulmonary hypertension, neonatal
RS2469258564 ABCA12 Health Risk Likely pathogenic —
RS2469258592 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS2469258613 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2469258832 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2469258993 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2469259225 COL5A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2469260344 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS2469261124 COL5A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS2469262451 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469263634 COL5A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2469263818 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2469263865 CPS1 Health Risk Likely pathogenic Pulmonary hypertension, neonatal
RS2469263961 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2469266110 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469267150 BARD1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2469267297 BARD1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2469267341 BARD1 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2469267740 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469268629 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2469268660 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS2469268677 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469268786 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2469268815 BARD1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2469269005 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469269067 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469269137 BARD1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2469269496 BARD1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2469269625 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469269909 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469269959 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469270108 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469270376 BARD1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2469270640 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2469270655 BARD1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2469270823 BARD1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2469271103 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469271486 BARD1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2469272983 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469273750 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469274169 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469275342 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469275756 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2469275782 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469275844 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS2469275983 CPS1 Health Risk Likely pathogenic Pulmonary hypertension, neonatal
RS2469276072 TTN Health Risk Likely pathogenic Early-onset myopathy with fatal cardiomyopathy, Early-onset myopathy with fatal cardiomyopathy
RS2469276251 BARD1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2469276710 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469277003 ABCA12 Health Risk Pathogenic —
RS2469277059 ABCA12 Health Risk Pathogenic —
RS2469277145 BARD1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2469277351 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469277596 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2469277857 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469277929 BARD1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2469279533 COL5A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2469280096 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469280112 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469280642 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469281007 SLC4A3 Health Risk Pathogenic Short QT syndrome 7, Short QT syndrome 7
RS2469281187 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469281613 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS2469283054 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469283584 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469284746 PAX3 Health Risk Pathogenic —
RS2469285416 PAX3 Health Risk Likely pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS2469285580 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469286358 PAX3 Health Risk Pathogenic —
RS2469286744 ABCA12 Health Risk Pathogenic —
RS2469287097 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469289666 ABCA12 Health Risk Pathogenic —
RS2469292614 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2469293001 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS2469293354 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2469293413 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
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