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
RS2517952110 PLA2G6 Health Risk Likely pathogenic Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS2517954653 PCNT Health Risk Pathogenic —
RS2517954753 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS2517955128 UPB1 Health Risk Pathogenic —
RS2517955419 PCNT Health Risk Likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS2517958021 MYH9 Health Risk Conflicting classifications of pathogenicity —
RS2517958029 MYH9 Health Risk Likely pathogenic —
RS2517958032 MYH9 Health Risk Conflicting classifications of pathogenicity —
RS2517958077 DYRK1A Health Risk Likely pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2517958091 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, Inborn genetic diseases
RS2517958128 MYH9 Health Risk Likely pathogenic MYH9-related disorder, MYH9-related disorder
RS2517958902 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2517959333 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2517959352 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2517959767 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517959828 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517959882 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517960692 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517960917 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517961150 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2517961321 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517961812 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517961881 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517961952 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517961978 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2517962038 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517962176 PLA2G6 Health Risk Pathogenic Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS2517962228 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517962252 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517962557 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517962654 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2517962774 CHEK2 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2517962830 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2517964076 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517964610 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2517964892 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2517964935 CHEK2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2517965997 MYH9 Health Risk Likely pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS2517969730 CHEK2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2517973284 XPNPEP3 Health Risk Likely pathogenic Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1
RS2517974544 DYRK1A Health Risk Likely pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2517974728 DYRK1A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2517977179 NEFH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2517980084 NEFH Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2517980289 TNRC6B Health Risk Pathogenic —
RS2517984979 TNRC6B Health Risk Likely pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS2517985090 TNRC6B Health Risk Pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS2517986713 TNRC6B Health Risk Likely pathogenic TNRC6B-related disorder, TNRC6B-related disorder
RS2517986860 TNRC6B Health Risk Likely pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS2517986894 TNRC6B Health Risk Pathogenic Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Global developmental delay with speech and behavioral abnormalities
RS2517987250 TNRC6B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2517987908 DYRK1A Health Risk Likely pathogenic Male infertility with spermatogenesis disorder, Male infertility with spermatogenesis disorder
RS2517988188 DYRK1A Health Risk Pathogenic —
RS2517988225 DYRK1A Health Risk Likely pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2517988286 DYRK1A Health Risk Likely pathogenic —
RS2517988934 TNRC6B Health Risk Pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2517988990 PLA2G6 Health Risk Pathogenic Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS2517990619 CSF2RB Health Risk Pathogenic Surfactant metabolism dysfunction, pulmonary
RS2517996716 TNRC6B Health Risk Likely pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS2517999041 XPNPEP3 Health Risk Likely pathogenic Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1
RS2518000703 TNRC6B Health Risk Pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS2518003515 ADARB1 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, microcephaly
RS2518004225 TNRC6B Health Risk Likely pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS2518004353 TNRC6B Health Risk Pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS2518007966 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2518008124 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518008185 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518008253 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2518008509 CHEK2 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2518008603 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2518008992 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518009015 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518009253 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518009959 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2518009985 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2518010039 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518010356 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2518010357 DYRK1A Health Risk Likely pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2518010459 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2518010515 DYRK1A Health Risk Likely pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2518014383 MYH9 Health Risk Likely pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS2518019872 PLA2G6 Health Risk Pathogenic Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS2518020258 PLA2G6 Health Risk Pathogenic Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS2518020318 PLA2G6 Health Risk Likely pathogenic Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS2518022633 MYH9 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 17, Autosomal dominant nonsyndromic hearing loss 17
RS2518022641 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS2518022924 MYH9 Health Risk Likely pathogenic —
RS2518027388 PI4KA Health Risk Likely pathogenic Polymicrogyria, perisylvian
RS2518027620 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2518027659 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2518027746 DYRK1A Health Risk Pathogenic —
RS2518027869 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2518028103 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2518028252 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related disorder, DYRK1A-related intellectual disability syndrome
RS2518028387 DYRK1A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2518028401 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2518028469 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2518028565 DYRK1A Health Risk Likely pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS2518029376 TNRC6B Health Risk Likely pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS2518037452 HPS4 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
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