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
RS2143963488 RAD51C Health Risk Likely pathogenic Fanconi anemia complementation group O, Fanconi anemia complementation group O
RS2143965549 FAM20A Health Risk Pathogenic Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G
RS2143966219 KAT8 Health Risk Pathogenic Li-Ghorbani-Weisz-Hubshman syndrome, Li-Ghorbani-Weisz-Hubshman syndrome
RS2143966223 MC4R Health Risk Pathogenic BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
RS2143966454 KAT8 Health Risk Pathogenic —
RS2143966828 MC4R Health Risk Pathogenic/Likely pathogenic MC4R-related disorder, Obesity due to melanocortin 4 receptor deficiency
RS2143967167 MC4R Health Risk Pathogenic BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, MC4R-related disorder
RS2143967182 MC4R Health Risk Likely pathogenic BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
RS2143969631 LAMA1 Health Risk Likely pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS2143971140 NAGS Health Risk Likely pathogenic Hyperammonemia, type III
RS2143974313 LOXHD1 Health Risk Pathogenic —
RS2143975211 RGS9 Health Risk Likely pathogenic —
RS2143975765 CDH2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia, familial
RS2143975890 LAMA1 Health Risk Likely pathogenic —
RS2143975906 LOXHD1 Health Risk Pathogenic —
RS2143978288 NAGS Health Risk Pathogenic Hyperammonemia, type III
RS2143978561 NAGS Health Risk Pathogenic Hyperammonemia, type III
RS2143978628 NAGS Health Risk Pathogenic Hyperammonemia, type III
RS2143978844 NAGS Health Risk Pathogenic Hyperammonemia, type III
RS2143980093 NAGS Health Risk Pathogenic Hyperammonemia, type III
RS2143980228 NAGS Health Risk Pathogenic Hyperammonemia, type III
RS2143980289 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS2143980805 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS2143984711 NAGS Health Risk Pathogenic Hyperammonemia, type III
RS2143984936 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS2143985147 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS2143985266 SMARCE1 Health Risk Likely pathogenic Familial meningioma, Familial meningioma
RS2143985614 KAT8 Health Risk Likely pathogenic Li-Ghorbani-Weisz-Hubshman syndrome, Li-Ghorbani-Weisz-Hubshman syndrome
RS2143985704 NAGS Health Risk Pathogenic Hyperammonemia, type III
RS2143986114 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143986336 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143986529 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2143986669 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2143986707 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143986751 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143986798 SMARCE1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2143986835 SMARCE1 Health Risk Pathogenic Familial meningioma, Familial meningioma
RS2143986851 SMARCE1 Health Risk Pathogenic Familial meningioma, Familial meningioma
RS2143987192 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2143987317 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2143987485 WNK4 Health Risk Pathogenic Pseudohypoaldosteronism type 2B, Pseudohypoaldosteronism type 2B
RS2143988221 SMARCE1 Health Risk Likely pathogenic Familial meningioma, Familial meningioma
RS2143988272 SMARCE1 Health Risk Pathogenic Familial meningioma, Familial meningioma
RS2143988301 SMARCE1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial meningioma
RS2143988635 SMARCE1 Health Risk Likely pathogenic Familial meningioma, Familial meningioma
RS2143989504 NAGS Health Risk Likely pathogenic Hyperammonemia, type III
RS2143989613 NAGS Health Risk Likely pathogenic Hyperammonemia, type III
RS2143989730 NAGS Health Risk Likely pathogenic Hyperammonemia, type III
RS2143991359 NAGS Health Risk Likely pathogenic Hyperammonemia, type III
RS2143992779 RGS9 Health Risk Pathogenic —
RS2143996133 SMARCE1 Health Risk Pathogenic Familial meningioma, Hereditary cancer-predisposing syndrome
RS2143996366 SMARCE1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial meningioma
RS2143997220 SMARCE1 Health Risk Likely pathogenic Familial meningioma, Familial meningioma
RS2143997316 SMARCE1 Health Risk Pathogenic Familial meningioma, Hereditary cancer-predisposing syndrome
RS2143997365 SMARCE1 Health Risk Pathogenic Tessier cleft, Medulloblastoma non-WNT/non-SHH group 3
RS2143997384 SMARCE1 Health Risk Likely pathogenic Familial meningioma, Familial meningioma
RS2143997424 SMARCE1 Health Risk Likely pathogenic —
RS2143999488 LAMA1 Health Risk Pathogenic —
RS2144002229 LOXHD1 Health Risk Likely pathogenic —
RS2144002337 PIEZO2 Health Risk Pathogenic Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
RS2144002934 PIEZO2 Health Risk Pathogenic —
RS2144003305 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2144003808 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2144003884 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2144003901 NF1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2144003933 LOXHD1 Health Risk Pathogenic —
RS2144003956 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2144003986 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2144004029 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2144004136 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2144004304 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2144004331 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2144004346 NF1 Health Risk Pathogenic —
RS2144004523 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2144004547 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2144004677 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2144004751 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2144004838 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2144005065 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2144009190 SMARCE1 Health Risk Pathogenic/Likely pathogenic Familial meningioma, Familial meningioma
RS2144009228 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS2144013371 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS2144015153 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2144015428 LOXHD1 Health Risk Pathogenic —
RS2144015494 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2144015567 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2144015630 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2144015861 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2144015942 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2144015956 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2144016093 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2144016379 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2144016542 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2144016775 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2144016788 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2144016800 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2144017227 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2144018381 LAMA1 Health Risk Pathogenic/Likely pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS2144018707 FOXC2 Health Risk Pathogenic Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome
RS2144019324 FOXC2 Health Risk Pathogenic Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome
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