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
RS2052209846 TMEM94 Health Risk Pathogenic —
RS2052216955 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2052240942 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2052245881 CHEK2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2052246987 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Hereditary spastic paraplegia
RS2052247122 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2052265794 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2052290589 CTCF Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2052291685 CTCF Health Risk Likely pathogenic Acute megakaryoblastic leukemia in down syndrome, Acute megakaryoblastic leukemia in down syndrome
RS2052296892 TMEM94 Health Risk Pathogenic Intellectual developmental disorder with cardiac defects and dysmorphic facies, Intellectual developmental disorder with cardiac defects and dysmorphic facies
RS2052320698 CTCF Health Risk Likely pathogenic Acute megakaryoblastic leukemia in down syndrome, Acute megakaryoblastic leukemia in down syndrome
RS2052357390 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2052363535 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2052365251 BRCA1 Health Risk Likely pathogenic —
RS2052366574 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS2052370581 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2052376303 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2052380495 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2052380758 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2052392843 BRCA1 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2052400387 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2052400799 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2052403348 BRCA1 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2052407546 BRCA1 Health Risk Pathogenic —
RS2052409873 BRCA1 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2052414656 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2052416215 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2052419658 KIF1A Health Risk Likely pathogenic Intellectual disability, autosomal dominant 9
RS2052422166 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS2052422975 KIF1A Health Risk Likely pathogenic Intellectual disability, autosomal dominant 9
RS2052431362 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS2052448846 USP8 Health Risk Pathogenic —
RS2052465606 NOG Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2052468526 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2052469986 NOG Health Risk Pathogenic —
RS2052470053 NOG Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2052471344 NOG Health Risk Pathogenic —
RS2052472184 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2052503292 TMPRSS3 Health Risk Likely pathogenic —
RS2052511807 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS2052513579 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2052514918 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2052518989 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2052523075 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2052528941 TTN Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2052538764 ARHGEF9 Health Risk Pathogenic Developmental and epileptic encephalopathy, 8
RS2052539418 ARHGEF9 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 8
RS2052544781 TMPRSS3 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS2052553224 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2052554226 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2052556835 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2052560214 TMPRSS3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS2052562532 TMPRSS3 Health Risk Pathogenic —
RS2052563186 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS2052563898 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2052564279 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2052566665 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2052585246 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2052588365 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2052588528 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2052588740 BRCA1 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2052589590 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2052593499 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS2052594151 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2052595821 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS2052598246 CAPN3 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy, limb-girdle
RS2052598737 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS2052604858 DYRK1A Health Risk Likely pathogenic Complex neurodevelopmental disorder, DYRK1A-related intellectual disability syndrome
RS2052604910 DYRK1A Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2052607303 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2052610048 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2052610181 DYRK1A Health Risk Pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS2052610542 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2052610724 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2052611239 CREBBP Health Risk Pathogenic/Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2052612564 DYRK1A Health Risk Likely pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2052612748 DYRK1A Health Risk Pathogenic —
RS2052613493 DYRK1A Health Risk Likely pathogenic Inborn genetic diseases, DYRK1A-related intellectual disability syndrome
RS2052614346 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2052619475 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2052622209 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2052635829 SHOX Health Risk Likely pathogenic SHOX-related short stature, SHOX-related short stature
RS2052640598 TRIP12 Health Risk Likely pathogenic —
RS2052660081 KIF1A Health Risk Pathogenic Hereditary spastic paraplegia 30, Neuropathy
RS2052666511 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS2052670569 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2052672053 TMPRSS3 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS2052672266 CARMIL2 Health Risk Likely pathogenic Severe combined immunodeficiency due to CARMIL2 deficiency, Severe combined immunodeficiency due to CARMIL2 deficiency
RS2052678684 DMD Health Risk Pathogenic —
RS2052685102 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2052700227 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2052703269 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2052705192 MRTFA Health Risk Pathogenic Immunodeficiency 66, Immunodeficiency 66
RS2052708500 TMPRSS3 Health Risk Pathogenic —
RS2052711401 SHOX Health Risk Pathogenic/Likely pathogenic SHOX-related short stature, SHOX-related short stature
RS2052711601 PHKA1 Health Risk Likely pathogenic Glycogen storage disease IXd, Glycogen storage disease IXd
RS2052713810 LOC107652445;SHOX Health Risk Likely pathogenic —
RS2052723780 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia
RS2052725531 CARMIL2 Health Risk Likely pathogenic —
RS2052727486 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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