SNP Directory

400,964 genetic variants in our database.

Clear
All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS864309687 GJA3 Health Risk Likely pathogenic Developmental cataract, Cataract 14 multiple types
RS864309688 GJA8 Health Risk Pathogenic/Likely pathogenic Developmental cataract, Cataract 1 multiple types
RS864309689 CRYGC Health Risk Pathogenic Developmental cataract, Developmental cataract
RS864309690 VIM Health Risk Pathogenic/Likely pathogenic Developmental cataract, Cataract 30
RS864309691 GJA3 Health Risk Likely pathogenic Developmental cataract, Cataract 14 multiple types
RS864309692 MAF Health Risk Likely pathogenic Developmental cataract, Developmental cataract
RS864309693 MIP Health Risk Pathogenic Developmental cataract, Cataract 15 multiple types
RS864309694 GJA3 Health Risk Pathogenic/Likely pathogenic Developmental cataract, Cataract 14 multiple types
RS864309695 MAF Health Risk Likely pathogenic Developmental cataract, Developmental cataract
RS864309696 MIP Health Risk Pathogenic Developmental cataract, Developmental cataract
RS864309698 CRYBB2 Health Risk Pathogenic/Likely pathogenic Cataract 3 multiple types, Cataract 3 multiple types
RS864309700 CRYBB3 Health Risk Likely pathogenic Developmental cataract, Developmental cataract
RS864309701 CRYGD Health Risk Likely pathogenic Developmental cataract, Cataract 4 multiple types
RS864309702 BCOR Health Risk Pathogenic Developmental cataract, Developmental cataract
RS864309703 GJA8 Health Risk Likely pathogenic Developmental cataract, Cataract 1 multiple types
RS864309705 DNM2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease dominant intermediate B, Charcot-Marie-Tooth disease dominant intermediate B
RS864309706 CRX Health Risk Pathogenic/Likely pathogenic Benign concentric annular macular dystrophy, Cone-rod dystrophy 2
RS864309707 CRX Health Risk Pathogenic Benign concentric annular macular dystrophy, Cone-rod dystrophy 2
RS864309708 CRX Health Risk Pathogenic Benign concentric annular macular dystrophy, Cone-rod dystrophy 2
RS864309709 SH3TC2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4
RS864309710 COPA Health Risk Pathogenic Autoimmune interstitial lung disease-arthritis syndrome, Autoimmune interstitial lung disease-arthritis syndrome
RS864309711 PDGFRB Health Risk Pathogenic Myofibromatosis, infantile
RS864309712 KATNIP Health Risk Likely pathogenic Joubert syndrome, Joubert syndrome 26
RS864309713 FBN1 Health Risk Likely pathogenic Congenital diaphragmatic hernia, Congenital diaphragmatic hernia
RS864309714 KDM1A Health Risk Pathogenic Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome, Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
RS864309715 KDM1A Health Risk Pathogenic Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome, Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
RS864309716 KDM1A Health Risk Pathogenic Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome, Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
RS864309717 MAPRE2 Health Risk Pathogenic Skin creases, congenital symmetric circumferential
RS864309718 MAPRE2 Health Risk Pathogenic Skin creases, congenital symmetric circumferential
RS864309719 MAPRE2 Health Risk Pathogenic Skin creases, congenital symmetric circumferential
RS864309720 MAPRE2 Health Risk Pathogenic/Likely pathogenic Skin creases, congenital symmetric circumferential
RS864309721 CDC42 Health Risk Pathogenic Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome, Inborn genetic diseases
RS864309722 MECOM Health Risk Likely pathogenic Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
RS864309723 MECOM Health Risk Pathogenic Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
RS864309724 MECOM Health Risk Pathogenic/Likely pathogenic Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MECOM-related disorder
RS864309725 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS864309726 MMAA Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria, cblA type
RS864309727 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS864309728 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS864309729 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS864309730 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS864309731 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS864309733 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS864309734 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS864309735 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia
RS864309736 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS864309738 MMUT Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS864309741 MMADHC Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS864309742 MMADHC Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS864309743 MMADHC Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS864321619 FLT3 Health Risk Pathogenic Myelodysplastic syndrome progressed to acute myeloid leukemia, Myelodysplastic syndrome progressed to acute myeloid leukemia
RS864321620 RTTN Health Risk Pathogenic/Likely pathogenic Primary microcephaly, Microcephalic primordial dwarfism due to RTTN deficiency
RS864321621 RTTN Health Risk Likely pathogenic Primary microcephaly, Microcephalic primordial dwarfism due to RTTN deficiency
RS864321622 UNC80 Health Risk Pathogenic/Likely pathogenic Encephalopathy, Hypotonia
RS864321623 UNC80 Health Risk Likely pathogenic Hypotonia, infantile
RS864321624 SLC25A42 Health Risk Pathogenic/Likely pathogenic Inborn mitochondrial myopathy, Metabolic crises
RS864321625 TNFAIP3 Health Risk Pathogenic Autoinflammatory syndrome, familial
RS864321626 TNFAIP3 Health Risk Pathogenic Autoinflammatory syndrome, familial
RS864321627 TAF1 Health Risk Pathogenic Intellectual disability, X-linked
RS864321628 TAF1 Health Risk Likely pathogenic Intellectual disability, X-linked
RS864321629 TAF1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked
RS864321630 TAF1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked
RS864321631 TAF1 Health Risk Pathogenic Intellectual disability, X-linked
RS864321632 NUP107 Health Risk Pathogenic Nephrotic syndrome, type 11
RS864321633 NUP107 Health Risk Likely pathogenic Nephrotic syndrome, type 11
RS864321634 WAC Health Risk Pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
RS864321635 SALL1 Health Risk Pathogenic/Likely pathogenic Townes-Brocks syndrome 1, Townes syndrome
RS864321636 SDHB Health Risk Pathogenic Pheochromocytoma, Pheochromocytoma/paraganglioma syndrome 4
RS864321638 SDHB Health Risk Likely pathogenic Pheochromocytoma, Pheochromocytoma
RS864321639 SDHB Health Risk Likely pathogenic Pheochromocytoma, Pheochromocytoma
RS864321640 VHL Health Risk Likely pathogenic Pheochromocytoma, Hereditary cancer-predisposing syndrome
RS864321641 VHL Health Risk Likely pathogenic Pheochromocytoma, Pheochromocytoma
RS864321642 VHL Health Risk Pathogenic/Likely pathogenic Pheochromocytoma, Von Hippel-Lindau syndrome
RS864321643 VHL Health Risk Pathogenic Pheochromocytoma, Von Hippel-Lindau syndrome
RS864321644 SDHD Health Risk Pathogenic Pheochromocytoma, Carney-Stratakis syndrome
RS864321645 NKX2-5 Health Risk Pathogenic Congenital heart disease, Congenital heart disease
RS864321648 NKX2-5 Health Risk Pathogenic Congenital heart disease, Congenital heart disease
RS864321649 NKX2-5 Health Risk Likely pathogenic Congenital heart disease, Tetralogy of Fallot
RS864321650 NKX2-5 Health Risk Pathogenic Congenital heart disease, Congenital heart disease
RS864321651 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS864321656 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS864321657 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Neurodevelopmental disorder
RS864321658 CPAP Health Risk Likely pathogenic Seckel syndrome 4, Microcephaly 6
RS864321659 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS864321660 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency
RS864321661 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS864321662 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency
RS864321663 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS864321664 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency
RS864321665 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency
RS864321666 HOXA11 Health Risk Pathogenic Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, Radioulnar synostosis with amegakaryocytic thrombocytopenia 1
RS864321667 POGZ Health Risk Pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS864321668 POGZ Health Risk Pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS864321669 ALDH18A1 Health Risk Likely pathogenic Hereditary spastic paraplegia 9A, P5CS deficiency
RS864321670 ALDH18A1 Health Risk Pathogenic Hereditary spastic paraplegia 9A, ALDH18A1 deficiency
RS864321671 POGZ Health Risk Pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Smith-Magenis Syndrome-like
RS864321672 POGZ Health Risk Pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS864321673 POGZ Health Risk Pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS864321674 POGZ Health Risk Pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Inborn genetic diseases
RS864321675 POGZ Health Risk Pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Inborn genetic diseases
« Prev 1 ... 3835 3836 3837 3838 3839 3840 3841 ... 4010 Next »

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

Get Started Free →