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
RS2078113517 BRIP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2078116884 MTHFD1 Health Risk Likely pathogenic —
RS2078117088 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2078118670 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2078126852 MTHFD1 Health Risk Pathogenic —
RS2078133150 CTNNB1 Health Risk Pathogenic Conspicuously happy disposition, Conspicuously happy disposition
RS2078136352 NTRK2 Health Risk Likely pathogenic Obesity, hyperphagia
RS2078140157 CTNNB1 Health Risk Pathogenic Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2078141257 CTNNB1 Health Risk Pathogenic —
RS2078141730 CTNNB1 Health Risk Pathogenic Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2078146524 MTHFD1 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
RS2078151590 CTNNB1;LOC126806658 Health Risk Pathogenic —
RS2078151677 CTNNB1 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2078159857 CTNNB1 Health Risk Pathogenic —
RS2078159952 CTNNB1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2078160204 CTNNB1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2078160286 CTNNB1 Health Risk Pathogenic Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2078160335 CTNNB1 Health Risk Pathogenic Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2078161525 CTNNB1 Health Risk Pathogenic —
RS2078162308 CTNNB1 Health Risk Pathogenic —
RS2078164049 SDHB Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor
RS2078172984 TRMU Health Risk Likely pathogenic —
RS2078196892 CTNNB1 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2078198486 CTNNB1 Health Risk Pathogenic —
RS2078201673 CTNNB1 Health Risk Pathogenic Inborn genetic diseases, Colorectal cancer
RS2078260891 TRMU Health Risk Pathogenic —
RS2078261207 TRMU Health Risk Pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS2078291953 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2078297140 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS2078297932 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS2078356915 CTNNB1 Health Risk Likely pathogenic CTNNB1-related syndromic intellectual disability, CTNNB1-related syndromic intellectual disability
RS2078362215 CTNNB1 Health Risk Likely pathogenic Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2078362331 CTNNB1 Health Risk Likely pathogenic Colorectal cancer, Colorectal cancer
RS2078362860 CTNNB1 Health Risk Conflicting classifications of pathogenicity —
RS2078376803 TRMU Health Risk Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS2078377046 TRMU Health Risk Pathogenic —
RS2078377150 CTNNB1;LOC126806659 Health Risk Likely pathogenic —
RS2078377820 CTNNB1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2078387202 KANSL1 Health Risk Likely pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS2078389049 KANSL1 Health Risk Pathogenic Chromatinopathy, Chromatinopathy
RS2078408746 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS2078415221 COL6A2 Health Risk Pathogenic —
RS2078415602 COL6A2 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2078419667 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2078432433 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2078435023 CTNNB1 Health Risk Pathogenic Exudative vitreoretinopathy 7, Exudative vitreoretinopathy 7
RS2078435846 CTNNB1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2078436466 CTNNB1 Health Risk Pathogenic Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2078438031 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2078438903 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2078439012 COL6A2 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2078441559 CTNNB1 Health Risk Pathogenic —
RS2078449522 TRMU Health Risk Likely pathogenic —
RS2078453451 TRMU Health Risk Pathogenic/Likely pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS2078462673 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS2078477419 COL6A2 Health Risk Pathogenic COL6A2-related disorder, Bethlem myopathy 1A
RS2078477786 COL6A2 Health Risk Pathogenic Proximal muscle weakness, Bethlem myopathy 1A
RS2078478648 COL6A2 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2078486744 SP110 Health Risk Pathogenic Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic veno-occlusive disease-immunodeficiency syndrome
RS2078489585 COL6A2 Health Risk Likely pathogenic Ullrich congenital muscular dystrophy 1A, Ullrich congenital muscular dystrophy 1A
RS2078499771 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2078499825 COL6A2 Health Risk Likely pathogenic Collagen 6-related myopathy, Collagen 6-related myopathy
RS2078511375 TRMU Health Risk Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS2078512215 PRICKLE2 Health Risk Likely pathogenic See cases, See cases
RS2078513383 COL6A2 Health Risk Likely pathogenic —
RS2078513943 CTNNB1 Health Risk Likely pathogenic Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS2078514224 COL6A2 Health Risk Likely pathogenic Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS2078521344 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2078522713 KDM6B Health Risk Likely pathogenic Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Malignant tumor of urinary bladder
RS2078522740 KDM6B Health Risk Likely pathogenic Inborn genetic diseases, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
RS2078532687 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2078533830 TLK2 Health Risk Likely pathogenic —
RS2078539742 KDM6B Health Risk Pathogenic Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
RS2078556781 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2078575287 TRMU Health Risk Pathogenic —
RS2078576503 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2078587931 KDM6B Health Risk Pathogenic Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
RS2078612090 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2078638223 KDM6B Health Risk Pathogenic Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
RS2078645664 TLK2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2078651031 COL6A2 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2078657536 COL6A2 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1B
RS2078661471 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2078662535 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS2078690809 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2078691261 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2078697392 KDM6B;LOC121587574 Health Risk Pathogenic —
RS2078700148 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2078705936 KDM6B Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
RS2078720428 TRANK1 Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS2078745026 BRIP1 Health Risk Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2078746295 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2078747114 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2078758552 CNNM4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2078758805 CNNM4 Health Risk Pathogenic —
RS2078763986 CNNM4 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2078764558 CNNM4 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2078772292 CNNM4 Health Risk Pathogenic —
RS2078778379 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2078779429 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
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