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
RS1595764680 OCA2 Health Risk Likely pathogenic Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS1595766210 SMAD6 Health Risk Pathogenic Radioulnar synostosis, Radioulnar synostosis
RS1595774445 OCA2 Health Risk Pathogenic Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS1595786853 IVD Health Risk Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS1595790647 MEIS2 Health Risk Pathogenic/Likely pathogenic Cardiac malformation, cleft lip/palate
RS1595791368 PIGB Health Risk Pathogenic Developmental and epileptic encephalopathy, 80
RS1595794433 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS1595795307 GLDN Health Risk Likely pathogenic Lethal congenital contracture syndrome 11, Lethal congenital contracture syndrome 11
RS1595795343 GLDN Health Risk Likely pathogenic Lethal congenital contracture syndrome 11, Lethal congenital contracture syndrome 11
RS1595797766 IVD Health Risk Pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS1595798033 HEXA Health Risk Pathogenic/Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1595801740 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1595802191 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1595804239 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS1595804715 SMAD6 Health Risk Likely pathogenic —
RS1595804976 SMAD6 Health Risk Pathogenic Aortic valve disease 2, Aortic valve disease 2
RS1595805026 PIGB Health Risk Pathogenic Developmental and epileptic encephalopathy, 80
RS1595805211 SMAD6 Health Risk Uncertain significance; risk factor Radioulnar synostosis, nonsyndromic
RS1595808957 UBE3A Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1595816114 UBE3A Health Risk Pathogenic —
RS1595816410 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1595816465 CLN6 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1595816474 CLN6 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1595816926 RASGRP1 Health Risk Pathogenic Immunodeficiency 64, Immunodeficiency 64
RS1595817021 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1595817498 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1595818249 CLN6 Health Risk Conflicting classifications of pathogenicity Ceroid lipofuscinosis, neuronal
RS1595818391 CLN6 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1595819527 HERC1 Health Risk Likely pathogenic —
RS1595821204 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS1595822583 MPI Health Risk Conflicting classifications of pathogenicity MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS1595826640 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS1595826673 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS1595828589 CAPN3 Health Risk Likely pathogenic —
RS1595828703 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS1595834751 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, CAPN3-related disorder
RS1595837172 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS1595837594 HCN4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome 8
RS1595838545 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS1595838712 STRA6 Health Risk Pathogenic Matthew-Wood syndrome, Matthew-Wood syndrome
RS1595840648 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4
RS1595840834 MYBPC3 Health Risk Likely pathogenic —
RS1595841063 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1595841206 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4
RS1595841552 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1595841736 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4
RS1595841767 MYBPC3 Health Risk Likely pathogenic —
RS1595842017 MYBPC3 Health Risk Likely pathogenic —
RS1595842238 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1595842556 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1595842632 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
RS1595843113 RASGRP1 Health Risk Pathogenic Immunodeficiency 64, Immunodeficiency 64
RS1595843549 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1595843553 MYBPC3 Health Risk Likely pathogenic Left ventricular noncompaction 10, Left ventricular noncompaction cardiomyopathy
RS1595843598 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1595843640 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1595843667 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS1595843758 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1595843828 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1595844241 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4
RS1595844413 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS1595844714 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4
RS1595845204 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4
RS1595845459 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS1595845565 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1595845888 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1595846344 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1595846365 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS1595846398 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4
RS1595846475 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1595846573 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS1595846922 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS1595847257 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS1595847753 MYBPC3 Health Risk Likely pathogenic —
RS1595847941 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1595848141 RASGRP1 Health Risk Pathogenic Immunodeficiency 64, Immunodeficiency 64
RS1595848628 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1595849603 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1595849742 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4
RS1595849931 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1595850762 MYBPC3 Health Risk Likely pathogenic Left ventricular noncompaction 10, Hypertrophic cardiomyopathy
RS1595860868 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS1595860875 MAP2K1 Health Risk Likely pathogenic Cardio-facio-cutaneous syndrome, Cardio-facio-cutaneous syndrome
RS1595865855 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1595869290 CHST14 Health Risk Likely pathogenic —
RS1595869467 CHST14 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, musculocontractural type
RS1595869602 CHST14 Health Risk Pathogenic Ehlers-Danlos syndrome, musculocontractural type
RS1595874842 RORA Health Risk Pathogenic Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
RS1595874995 RORA Health Risk Likely pathogenic Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
RS1595878941 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1595882053 SMAD3 Health Risk Conflicting classifications of pathogenicity Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1595888828 SPG11 Health Risk Likely pathogenic —
RS1595889010 RORA Health Risk Likely pathogenic Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
RS1595889508 MGA Health Risk Likely pathogenic Multiple myeloma, Multiple myeloma
RS1595889891 FAH Health Risk Pathogenic/Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS1595890740 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS1595894742 FAH Health Risk Pathogenic/Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS1595897112 SIN3A Health Risk Pathogenic —
RS1595897117 SIN3A Health Risk Likely pathogenic SIN3A-related intellectual disability syndrome due to a point mutation, SIN3A-related intellectual disability syndrome due to a point mutation
RS1595897321 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
« Prev 1 ... 1110 1111 1112 1113 1114 1115 1116 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →