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
RS1567847972 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567848100 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1567848129 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567848147 NF1 Health Risk Pathogenic Optic nerve glioma, Optic nerve glioma
RS1567848178 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567848213 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1567848704 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1567848711 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1567848731 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567848739 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567848755 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567848761 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS1567848878 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567848976 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567849184 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567849199 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567849208 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567849237 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567849596 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1567849826 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1567849864 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567849891 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1567850647 NF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1567850984 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567850987 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1567851029 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567851054 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567851231 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567851416 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1567851445 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567851470 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1567851501 NF1 Health Risk Pathogenic —
RS1567851532 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567852567 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567852753 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567852849 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567853044 NF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1567855081 CHD3 Health Risk Likely pathogenic Intellectual disability, Snijders Blok-Campeau syndrome
RS1567855132 FKBP10 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 11, Bruck syndrome 1
RS1567855669 CHD3 Health Risk Pathogenic Intellectual disability, Snijders Blok-Campeau syndrome
RS1567855704 CHD3 Health Risk Likely pathogenic Intellectual disability, Snijders Blok-Campeau syndrome
RS1567856045 CHD3 Health Risk Likely pathogenic Intellectual disability, Snijders Blok-Campeau syndrome
RS1567856056 FKBP10 Health Risk Pathogenic/Likely pathogenic Bruck syndrome 1, Osteogenesis imperfecta type 11
RS1567856331 CHD3 Health Risk Likely pathogenic Intellectual disability, Snijders Blok-Campeau syndrome
RS1567858266 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1567858306 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1567858318 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567858344 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567860075 CHD3 Health Risk Likely pathogenic Intellectual disability, Snijders Blok-Campeau syndrome
RS1567860112 CHD3 Health Risk Pathogenic/Likely pathogenic Snijders Blok-Campeau syndrome, Intellectual disability
RS1567860640 CHD3 Health Risk Likely pathogenic Snijders Blok-Campeau syndrome, Intellectual disability
RS1567860891 CHD3 Health Risk Pathogenic Intellectual disability, Snijders Blok-Campeau syndrome
RS1567860919 CHD3 Health Risk Likely pathogenic Intellectual disability, Snijders Blok-Campeau syndrome
RS1567861468 CHD3 Health Risk Pathogenic Snijders Blok-Campeau syndrome, Intellectual disability
RS1567861489 CHD3 Health Risk Likely pathogenic Intellectual disability, Snijders Blok-Campeau syndrome
RS1567861501 CHD3 Health Risk Pathogenic/Likely pathogenic Intellectual disability, Snijders Blok-Campeau syndrome
RS1567861571 CHD3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Snijders Blok-Campeau syndrome
RS1567861894 CHD3 Health Risk Likely pathogenic Intellectual disability, Snijders Blok-Campeau syndrome
RS1567861977 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567862044 NF1 Health Risk Pathogenic —
RS1567862071 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1567862095 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1567862283 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1567862349 NF1 Health Risk Likely pathogenic Neurofibromatosis, familial spinal
RS1567862353 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1567862860 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567862956 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567862991 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567863004 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1567863580 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567863614 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567863648 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567863732 CHD3 Health Risk Pathogenic/Likely pathogenic Intellectual disability, Snijders Blok-Campeau syndrome
RS1567864750 CHD3 Health Risk Likely pathogenic Intellectual disability, Snijders Blok-Campeau syndrome
RS1567864804 TCAP Health Risk Likely pathogenic Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy
RS1567864972 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567864983 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567865010 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1567865042 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1567865056 NF1 Health Risk Pathogenic —
RS1567865089 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1567865110 TCAP Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25
RS1567866856 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS1567868429 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS1567868477 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS1567868598 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1567868785 BRIP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1567870541 TLK2 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 57
RS1567870911 PGAP3 Health Risk Pathogenic —
RS1567871600 ATP6V0A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, 6 conditions
RS1567871748 PGAP3 Health Risk Pathogenic/Likely pathogenic Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4
RS1567872320 CARD14 Health Risk Pathogenic Papulosquamous eruptions, Papulosquamous eruptions
RS1567874485 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS1567874779 BRIP1 Health Risk Pathogenic —
RS1567875399 DNAI2 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1567875446 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS1567876609 DNAI2 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 9
RS1567876917 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1567876984 ACOX1 Health Risk Pathogenic/Likely pathogenic Mitchell syndrome, ACOX1-related disorder
RS1567877108 CHD3 Health Risk Likely pathogenic Intellectual disability, Snijders Blok-Campeau syndrome
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