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
RS587777838 TRIM2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2R, Charcot-Marie-Tooth disease type 2R
RS587777839 PET100 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS587777840 NLRC4 Health Risk Pathogenic Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4
RS587777841 POLR1D Health Risk Pathogenic Treacher Collins syndrome 2, Treacher Collins syndrome
RS587777842 DLX5 Health Risk Pathogenic Split hand-foot malformation 1, Split hand-foot malformation 1
RS587777846 SDCCAG8 Health Risk Pathogenic Bardet-Biedl syndrome 16, Bardet-Biedl syndrome 16
RS587777847 SDCCAG8 Health Risk Pathogenic Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS587777848 KCNB1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 26
RS587777849 KCNB1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 26
RS587777850 KCNB1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 26
RS587777851 ATR Health Risk Pathogenic Seckel syndrome 1, Seckel syndrome 1
RS587777852 ATR Health Risk Pathogenic/Likely pathogenic Seckel syndrome 1, ATR-related disorder
RS587777853 PNPLA6 Health Risk Pathogenic Ataxia-hypogonadism-choroidal dystrophy syndrome, Ataxia-hypogonadism-choroidal dystrophy syndrome
RS587777854 PNPLA6 Health Risk Likely pathogenic Ataxia-hypogonadism-choroidal dystrophy syndrome, Hereditary spastic paraplegia 39
RS587777855 FOXP1 Health Risk Likely pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS587777857 FGFR3 Health Risk Pathogenic Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Camptodactyly-tall stature-scoliosis-hearing loss syndrome
RS587777858 ALDH18A1 Health Risk Pathogenic ALDH18A1-related de Barsy syndrome, ALDH18A1-related de Barsy syndrome
RS587777859 GNRH1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 12 with or without anosmia, Hypogonadotropic hypogonadism 12 with or without anosmia
RS587777860 DNM1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 31A
RS587777861 DNM1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 31A
RS587777862 DNM1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 31A
RS587777863 PROK2 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 4 with or without anosmia, PROK2-related disorder
RS587777864 PROK2 Health Risk Pathogenic Hypogonadotropic hypogonadism 4 with or without anosmia, Hypogonadotropic hypogonadism 4 with or without anosmia
RS587777866 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS587777870 ACTG2 Health Risk Pathogenic Visceral myopathy 1, Visceral myopathy 1
RS587777871 MCM9 Health Risk Pathogenic Premature ovarian failure 1, 46
RS587777872 MCM9 Health Risk Pathogenic/Likely pathogenic 46, XX ovarian dysgenesis-short stature syndrome
RS587777874 RAB39B Health Risk Pathogenic Early-onset parkinsonism-intellectual disability syndrome, Early-onset parkinsonism-intellectual disability syndrome
RS587777875 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2
RS587777876 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X
RS587777877 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X
RS587777878 GJB1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X
RS587777879 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease
RS587777880 NEFL Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS587777882 NEFL Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2E
RS587777885 BICD2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
RS587777893 MTOR Health Risk Pathogenic Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
RS587777894 MTOR Health Risk Pathogenic Isolated focal cortical dysplasia type II, Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
RS587777900 MTOR Health Risk Pathogenic CEBALID syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
RS587777909 LPL Health Risk Likely pathogenic Hyperlipidemia, familial combined
RS587777921 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Charcot-Marie-Tooth disease axonal type 2X
RS587777922 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS587777928 GUCY1A1 Health Risk Pathogenic Myocardial infarction, susceptibility to
RS587777929 CCT7 Health Risk Pathogenic Myocardial infarction, susceptibility to
RS587777931 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS587777939 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS587777943 ERCC4 Health Risk Likely pathogenic Xeroderma pigmentosum, group F
RS587777945 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group C, Hereditary cancer-predisposing syndrome
RS587778003 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS587778004 TSC2 Health Risk Conflicting classifications of pathogenicity Lymphangiomyomatosis, Tuberous sclerosis 2
RS587778029 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS587778033 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS587778035 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS587778037 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Colon adenocarcinoma
RS587778044 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS587778046 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS587778064 ASXL1 Health Risk Conflicting classifications of pathogenicity —
RS587778067 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS587778068 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS587778069 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS587778073 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS587778075 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS587778076 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS587778077 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary breast ovarian cancer syndrome
RS587778079 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS587778080 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS587778082 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS587778085 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS587778088 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS587778100 BCOR Health Risk Conflicting classifications of pathogenicity Oculofaciocardiodental syndrome, Inborn genetic diseases
RS587778104 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS587778105 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS587778106 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS587778108 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS587778111 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS587778112 BMPR1A Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS587778114 BRAF Health Risk Conflicting classifications of pathogenicity LEOPARD syndrome 3, RASopathy
RS587778116 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS587778117 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS587778118 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS587778119 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS587778120 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS587778121 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS587778122 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS587778123 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS587778124 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS587778125 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS587778129 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS587778131 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS587778133 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS587778134 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS587778138 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS587778139 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS587778159 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS587778167 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS587778170 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS587778172 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS587778173 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS587778175 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS587778185 CDK4 Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
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