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
RS1568899375 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1568904872 SLC13A3 Health Risk Pathogenic Leukoencephalopathy, acute reversible
RS1568905451 CD40 Health Risk Pathogenic Hyper-IgM syndrome type 3, Hyper-IgM syndrome type 3
RS1568906348 CD40 Health Risk Pathogenic Hyper-IgM syndrome type 3, Hyper-IgM syndrome type 3
RS1568906610 GNAS;GNAS-AS1 Health Risk Likely pathogenic —
RS1568916986 KCNQ2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1568925507 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS1568925523 KCNQ2 Health Risk Likely pathogenic —
RS1568925719 KCNQ2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 7
RS1568926472 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS1568927501 SLC13A3 Health Risk Pathogenic Leukoencephalopathy, acute reversible
RS1568927747 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1568927820 KCNQ2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1568928525 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS1568928804 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1568928928 COL18A1 Health Risk Pathogenic —
RS1568929135 CBS Health Risk Pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS1568929576 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS1568929639 COL6A2 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1568930288 COL18A1 Health Risk Pathogenic Knobloch syndrome, Knobloch syndrome
RS1568930411 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1568930426 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1568931397 COL6A2 Health Risk Pathogenic Ullrich congenital muscular dystrophy 1B, Ullrich congenital muscular dystrophy 1B
RS1568932096 AIRE Health Risk Pathogenic/Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS1568932440 CBS Health Risk Pathogenic Classic homocystinuria, Classic homocystinuria
RS1568932462 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1568932480 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1568932835 CBS Health Risk Pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS1568937087 SMARCB1 Health Risk Likely pathogenic —
RS1568937197 SMARCB1 Health Risk Pathogenic —
RS1568938325 COL6A2 Health Risk Pathogenic —
RS1568940442 KCNQ2 Health Risk Likely pathogenic Inborn genetic diseases, Early-infantile DEE
RS1568940507 ZNF341 Health Risk Pathogenic Hyper-IgE recurrent infection syndrome 3, autosomal recessive
RS1568941635 KCNQ2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1568942232 COL18A1 Health Risk Pathogenic —
RS1568944870 KCNQ2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1568945329 ZNF341 Health Risk Pathogenic Hyper-IgE recurrent infection syndrome 3, autosomal recessive
RS1568955379 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS1568963037 SMARCB1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 15
RS1568963062 DEPDC5 Health Risk Likely pathogenic Epilepsy, familial focal
RS1568963596 SMARCB1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 15
RS1568966771 ADA2 Health Risk Pathogenic Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2
RS1568968051 ADA2 Health Risk Pathogenic —
RS1568972559 TP53RK Health Risk Likely pathogenic Galloway-Mowat syndrome 4, Galloway-Mowat syndrome 4
RS1568976122 CYP24A1 Health Risk Conflicting classifications of pathogenicity —
RS1568977722 FBXO7 Health Risk Pathogenic Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS1568979622 UPB1 Health Risk Pathogenic Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase
RS1568985256 NDUFS7 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 3
RS1568985955 SLC2A10 Health Risk Conflicting classifications of pathogenicity Arterial tortuosity syndrome, Arterial tortuosity syndrome
RS1568986041 CFAP410 Health Risk Likely pathogenic Retinal dystrophy with or without macular staphyloma, Retinal dystrophy with or without macular staphyloma
RS1568986619 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1568988719 ADA2 Health Risk Pathogenic Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2
RS1568991466 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Epilepsy
RS1568991852 MAPRE2 Health Risk Likely pathogenic Skin creases, congenital symmetric circumferential
RS1568992782 CFAP410 Health Risk Likely pathogenic Retinal dystrophy with or without macular staphyloma, Retinal dystrophy with or without macular staphyloma
RS1568992973 NDUFS7 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 3
RS1568994522 EEF1A2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 33
RS1568997118 EEF1A2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1568998827 ITCH Health Risk Pathogenic Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency
RS1569001972 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS1569002077 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS1569002159 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS1569002296 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS1569002881 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
RS1569006250 CSTB Health Risk Pathogenic/Likely pathogenic Progressive myoclonic epilepsy, Unverricht-Lundborg syndrome
RS1569006974 GAMT Health Risk Likely pathogenic Cerebral creatine deficiency syndrome, Inborn genetic diseases
RS1569008655 RUNX1 Health Risk Pathogenic Thrombocytopenia, Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
RS1569009004 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS1569009071 GAMT Health Risk Pathogenic Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase
RS1569012755 DEPDC5 Health Risk Pathogenic Epilepsy, familial focal
RS1569015549 GNAS Health Risk Likely pathogenic Pseudopseudohypoparathyroidism, Pseudopseudohypoparathyroidism
RS1569016820 KCNB1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1569017015 KCNB1 Health Risk Pathogenic Epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1569017025 KCNB1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1569017045 KCNB1 Health Risk Pathogenic Epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1569017073 KCNB1 Health Risk Pathogenic/Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1569017114 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS1569017123 KCNB1 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1569017143 KCNB1 Health Risk Pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1569017148 KCNB1 Health Risk Pathogenic/Likely pathogenic Epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1569017160 KCNB1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1569017174 KCNB1 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1569017205 KCNB1 Health Risk Pathogenic Epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1569017257 KCNB1 Health Risk Pathogenic/Likely pathogenic Epileptic encephalopathy, Neurodevelopmental delay
RS1569017337 KCNB1 Health Risk Pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1569020396 GNAS Health Risk Pathogenic —
RS1569022780 TBX1 Health Risk Pathogenic —
RS1569024289 TMPRSS6 Health Risk Pathogenic Microcytic anemia, Microcytic anemia
RS1569025178 MRAP Health Risk Pathogenic Glucocorticoid deficiency 2, Glucocorticoid deficiency 2
RS1569026431 ACO2 Health Risk Conflicting classifications of pathogenicity Infantile cerebellar-retinal degeneration, Infantile cerebellar-retinal degeneration
RS1569027992 GNAS Health Risk Conflicting classifications of pathogenicity 8 conditions, 8 conditions
RS1569031388 GNAS Health Risk Likely pathogenic —
RS1569032751 GNAS Health Risk Likely pathogenic McCune-Albright syndrome, Pseudohypoparathyroidism type 1B
RS1569034190 TRIOBP Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28
RS1569034200 TRIOBP Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS1569036540 LSS Health Risk Pathogenic Alopecia-intellectual disability syndrome 4, Alopecia-intellectual disability syndrome 4
RS1569036773 TBX4 Health Risk Pathogenic Coxopodopatellar syndrome, Coxopodopatellar syndrome
RS1569037127 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS1569039353 LSS Health Risk Pathogenic Hypotrichosis 14, Alopecia-intellectual disability syndrome 4
RS1569040134 TRIOBP Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28
« Prev 1 ... 1023 1024 1025 1026 1027 1028 1029 ... 4509 Next »

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

Get Started Free →