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
RS1597259095 SLC24A5 Health Risk Pathogenic —
RS1597262107 BCAR1 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1597273765 SLC38A8 Health Risk Pathogenic Foveal hypoplasia, Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
RS1597286264 MLYCD Health Risk Likely pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS1597291206 FOXF1 Health Risk Pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS1597291235 FOXF1 Health Risk Likely pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, See cases
RS1597291255 FOXF1 Health Risk Pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS1597291300 FOXF1 Health Risk Pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS1597291318 FOXF1 Health Risk Pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS1597291380 FOXF1 Health Risk Likely pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS1597291554 FOXF1 Health Risk Pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS1597291710 FOXF1 Health Risk Pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS1597291719 FOXF1 Health Risk Pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS1597291722 FOXF1 Health Risk Pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS1597291767 FOXF1 Health Risk Pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS1597292524 FOXF1 Health Risk Pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS1597292620 FOXF1 Health Risk Pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS1597325785 SERPINF2 Health Risk Pathogenic Abnormal bleeding, Abnormal bleeding
RS1597331616 AIPL1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 4, Retinitis pigmentosa
RS1597340989 AIPL1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1597343914 AURKB Health Risk Likely pathogenic NK-cell enteropathy, NK-cell enteropathy
RS1597345314 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1597345344 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1597345549 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1597349257 TP53 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1597349305 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1597350158 SERPINF1 Health Risk Pathogenic —
RS1597352358 SERPINF1 Health Risk Likely pathogenic Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6
RS1597352466 SERPINF1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type III, Osteogenesis imperfecta type III
RS1597355244 SERPINF1 Health Risk Pathogenic Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6
RS1597357740 SERPINF1 Health Risk Pathogenic Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6
RS1597357758 SERPINF1 Health Risk Likely pathogenic Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6
RS1597359053 TP53 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1597359130 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Malignant tumor of urinary bladder
RS1597359215 TP53 Health Risk Pathogenic Ovarian neoplasm, Neoplasm
RS1597359235 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1597359403 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1597359548 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1597359691 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1597360140 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1597360326 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1597360340 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Gastric cancer
RS1597360991 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1597361540 PRMT7 Health Risk Likely pathogenic Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome
RS1597362004 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1597362168 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1597362195 TP53 Health Risk Likely pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS1597362206 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1597362423 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Chronic myelogenous leukemia
RS1597364034 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1597364185 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1597364514 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1597364867 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1597364916 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1597365075 TP53 Health Risk Pathogenic Squamous cell carcinoma of the head and neck, Squamous cell carcinoma of the head and neck
RS1597365138 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1597365202 TP53 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1597367938 TP53 Health Risk Pathogenic/Likely pathogenic Ovarian neoplasm, Li-Fraumeni syndrome 1
RS1597368095 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1597368376 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Lung adenocarcinoma
RS1597368777 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1597368891 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1597368970 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1597369390 TP53 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1597369404 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1597369519 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1597369559 TP53 Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS1597370110 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1597370230 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1597370312 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1597370899 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1597371154 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1597371266 TP53 Health Risk Pathogenic —
RS1597371512 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1597371657 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1597371666 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Squamous cell carcinoma of the head and neck
RS1597371694 TP53 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1597373467 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1
RS1597373517 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1597373605 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1597373700 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1597373769 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1597373901 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1597374098 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial pancreatic carcinoma
RS1597374152 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome 1
RS1597374210 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1597374251 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS1597374264 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1597374343 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1597374562 CYBA Health Risk Pathogenic Granulomatous disease, chronic
RS1597374735 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1597374797 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1597374820 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1597375038 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1597375092 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1597375159 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1597375294 TP53 Health Risk Pathogenic/Likely pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1597376589 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1597378045 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Inborn genetic diseases
RS1597385624 GAN Health Risk Conflicting classifications of pathogenicity Giant axonal neuropathy 1, Giant axonal neuropathy 1
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