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
RS2468654445 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468654831 NRXN1 Health Risk Pathogenic Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS2468655276 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468659895 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468661040 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468661992 TTN Health Risk Pathogenic/Likely pathogenic Primary familial dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468664763 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468665003 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, TTN-related disorder
RS2468665074 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468665214 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468666450 NCKAP1 Health Risk Likely pathogenic Global developmental delay, Global developmental delay
RS2468666500 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468668042 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468668527 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468668971 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468670396 TTN Health Risk Likely pathogenic —
RS2468670906 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468671459 TTN Health Risk Pathogenic Titinopathy, Titinopathy
RS2468677363 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS2468678181 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468678417 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468678573 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468679007 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468681709 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468681856 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468682008 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468683037 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468684173 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468686204 TTN Health Risk Likely pathogenic TTN-related disorder, TTN-related disorder
RS2468687187 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468688279 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468688990 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468690624 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468694821 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468695547 TTN Health Risk Likely pathogenic —
RS2468696124 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468700357 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468700544 BMPR2 Health Risk Pathogenic Pulmonary arterial hypertension, Pulmonary arterial hypertension
RS2468703700 BMPR2 Health Risk Likely pathogenic Primary pulmonary hypertension, Primary pulmonary hypertension
RS2468703779 BMPR2 Health Risk Pathogenic/Likely pathogenic Pulmonary arterial hypertension, Primary pulmonary hypertension
RS2468704589 PJVK Health Risk Pathogenic —
RS2468705351 PJVK Health Risk Pathogenic —
RS2468705427 PJVK Health Risk Pathogenic —
RS2468706609 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468707560 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468708051 PJVK Health Risk Likely pathogenic —
RS2468708207 PJVK Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 59, Autosomal recessive nonsyndromic hearing loss 59
RS2468710100 REEP1 Health Risk Likely pathogenic Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31
RS2468711972 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468712267 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468712616 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468713552 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS2468714832 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468715108 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468716259 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468718924 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468719258 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468719927 HIBCH Health Risk Likely pathogenic 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency
RS2468722686 BMPR2 Health Risk Pathogenic Primary pulmonary hypertension, Primary pulmonary hypertension
RS2468722719 BMPR2 Health Risk Likely pathogenic Pulmonary hypertension, primary
RS2468722793 BMPR2 Health Risk Pathogenic Primary pulmonary hypertension, Primary pulmonary hypertension
RS2468723111 NCKAP1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2468724094 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468724359 FSIP2 Health Risk Likely pathogenic Spermatogenic failure 34, Spermatogenic failure 34
RS2468726562 PGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 42
RS2468726625 PGAP1 Health Risk Pathogenic Intellectual disability, autosomal recessive 42
RS2468727264 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS2468727653 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468730284 PJVK Health Risk Pathogenic —
RS2468730486 PJVK Health Risk Pathogenic —
RS2468735181 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468736602 TTN;TTN-AS1 Health Risk Pathogenic TTN-related disorder, TTN-related disorder
RS2468736700 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468737055 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468737336 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468737987 BMPR2 Health Risk Likely pathogenic Tooth agenesis, selective
RS2468738276 BMPR2 Health Risk Pathogenic Primary pulmonary hypertension, Primary pulmonary hypertension
RS2468739970 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468741701 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468741825 BMPR2 Health Risk Pathogenic Primary pulmonary hypertension, Primary pulmonary hypertension
RS2468741901 BMPR2 Health Risk Pathogenic Pulmonary arterial hypertension, Pulmonary arterial hypertension
RS2468742542 BMPR2 Health Risk Pathogenic Primary pulmonary hypertension, Primary pulmonary hypertension
RS2468743038 BMPR2 Health Risk Pathogenic Primary pulmonary hypertension, Primary pulmonary hypertension
RS2468743408 BMPR2 Health Risk Pathogenic Primary pulmonary hypertension, Primary pulmonary hypertension
RS2468743454 BMPR2 Health Risk Likely pathogenic Pulmonary arterial hypertension, Pulmonary arterial hypertension
RS2468743535 BMPR2 Health Risk Pathogenic Primary pulmonary hypertension, Primary pulmonary hypertension
RS2468743550 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468743970 BMPR2 Health Risk Pathogenic Primary pulmonary hypertension, Primary pulmonary hypertension
RS2468744169 BMPR2 Health Risk Pathogenic Primary pulmonary hypertension, Primary pulmonary hypertension
RS2468744516 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS2468745527 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468746262 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS2468746334 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468749792 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468750474 FSIP2 Health Risk Pathogenic Spermatogenic failure 34, Spermatogenic failure 34
RS2468750564 TTN Health Risk Likely pathogenic Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G
RS2468761031 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS2468761188 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Cardiovascular phenotype
RS2468762969 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468764436 FSIP2 Health Risk Pathogenic Spermatogenic failure 34, Spermatogenic failure 34
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