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
RS1597898362 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1597900455 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1597900683 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1597902342 FKBP10 Health Risk Likely pathogenic Osteogenesis imperfecta type 11, Osteogenesis imperfecta type 11
RS1597905369 G6PC3 Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS1597905563 FKBP10 Health Risk Likely pathogenic Osteogenesis imperfecta type 11, Osteogenesis imperfecta type 11
RS1597906442 FKBP10 Health Risk Likely pathogenic Osteogenesis imperfecta type III, Osteogenesis imperfecta type III
RS1597907877 FKBP10 Health Risk Likely pathogenic Osteogenesis imperfecta type III, Osteogenesis imperfecta type III
RS1597908085 FKBP10 Health Risk Likely pathogenic Osteogenesis imperfecta type III, Osteogenesis imperfecta type III
RS1597911705 BRCA1 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS1597912041 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1597919829 NOG Health Risk Pathogenic Symphalangism-brachydactyly syndrome, Symphalangism-brachydactyly syndrome
RS1597920017 NOG Health Risk Likely pathogenic —
RS1597923232 BRCA1 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1597923450 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1597923586 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1597951232 ARL2BP Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1597978607 SCN4A Health Risk Likely pathogenic Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1
RS1597981046 TOP3A Health Risk Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
RS1597985462 SCN4A Health Risk Pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS1597986791 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS1597988331 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS1597989983 G6PC1 Health Risk Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS1597989985 G6PC1 Health Risk Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS1597990895 G6PC1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS1597990906 G6PC1 Health Risk Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS1597990921 G6PC1 Health Risk Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS1597991608 G6PC1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS1597991733 G6PC1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS1597993685 MKS1 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1597993822 CA4 Health Risk Likely pathogenic —
RS1598043201 DGKE Health Risk Pathogenic Immunoglobulin-mediated membranoproliferative glomerulonephritis, Immunoglobulin-mediated membranoproliferative glomerulonephritis
RS1598048941 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS1598050118 BPTF Health Risk Pathogenic Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Inborn genetic diseases
RS1598057395 B9D1 Health Risk Pathogenic Meckel-Gruber syndrome, Meckel-Gruber syndrome
RS1598063117 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Ovarian cancer
RS1598067532 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS1598086801 RAI1 Health Risk Pathogenic —
RS1598088228 RAI1 Health Risk Likely pathogenic —
RS1598088235 RAI1 Health Risk Pathogenic Smith-Magenis syndrome, Smith-Magenis syndrome
RS1598089930 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1598089943 RAI1 Health Risk Likely pathogenic Smith-Magenis syndrome, Smith-Magenis syndrome
RS1598090060 AXIN2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
RS1598090074 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS1598090354 RAI1 Health Risk Pathogenic —
RS1598090745 RAI1 Health Risk Pathogenic —
RS1598091391 RAI1 Health Risk Pathogenic Smith-Magenis syndrome, Smith-Magenis syndrome
RS1598092034 RAI1 Health Risk Pathogenic —
RS1598092236 RAI1 Health Risk Pathogenic Smith-Magenis syndrome, Smith-Magenis syndrome
RS1598093659 RAI1 Health Risk Pathogenic Smith-Magenis syndrome, Smith-Magenis syndrome
RS1598093952 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS1598097196 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1598097733 AXIN2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
RS1598097941 AXIN2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
RS1598099027 AXIN2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
RS1598099711 AXIN2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
RS1598101089 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1598104209 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS1598116164 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1598118962 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1598119456 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1598119841 AXIN2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1598119867 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1598119889 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS1598120768 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS1598127082 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1598129626 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS1598136954 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1598143986 SUZ12 Health Risk Pathogenic Imagawa-Matsumoto syndrome, Imagawa-Matsumoto syndrome
RS1598144694 GUCY2D Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS1598144913 STRADA Health Risk Likely pathogenic Polyhydramnios, megalencephaly
RS1598146173 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS1598146589 GUCY2D Health Risk Pathogenic Leber congenital amaurosis, Cone-rod dystrophy 6
RS1598149154 GUCY2D Health Risk Likely pathogenic Cone-rod dystrophy 6, Cone-rod dystrophy 6
RS1598149187 GUCY2D Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS1598149659 GUCY2D Health Risk Likely pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS1598150539 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS1598150748 GUCY2D Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis, Cone-rod dystrophy 6
RS1598150793 GUCY2D Health Risk Likely pathogenic Cone-rod dystrophy, Cone-rod dystrophy
RS1598152908 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS1598173737 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1598173901 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1598174225 SUZ12 Health Risk Pathogenic Imagawa-Matsumoto syndrome, Imagawa-Matsumoto syndrome
RS1598175249 SOX9 Health Risk Pathogenic CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
RS1598176416 SOX9 Health Risk Likely pathogenic —
RS1598176495 SOX9 Health Risk Likely pathogenic —
RS1598176531 SOX9 Health Risk Likely pathogenic —
RS1598176657 SOX9 Health Risk Pathogenic —
RS1598176785 SOX9 Health Risk Pathogenic Camptomelic dysplasia, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
RS1598176852 SOX9 Health Risk Pathogenic/Likely pathogenic Camptomelic dysplasia, Camptomelic dysplasia
RS1598176962 SOX9 Health Risk Pathogenic —
RS1598180319 ALOX12B Health Risk Pathogenic Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS1598180323 SLC25A19 Health Risk Pathogenic Progressive demyelinating neuropathy with bilateral striatal necrosis, Progressive demyelinating neuropathy with bilateral striatal necrosis
RS1598181642 ALOX12B Health Risk Pathogenic Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS1598181810 ALOX12B Health Risk Pathogenic Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS1598184500 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1598186840 ITGA3 Health Risk Likely pathogenic —
RS1598190143 FANCA Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1598190568 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS1598191053 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
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