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
RS2066382876 CASK Health Risk Pathogenic FG syndrome 4, FG syndrome 4
RS2066399731 MITF Health Risk Pathogenic Melanoma, cutaneous malignant
RS2066399994 MITF Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Waardenburg syndrome type 2A
RS2066400236 MITF Health Risk Pathogenic Waardenburg syndrome type 2A, Waardenburg syndrome type 2A
RS2066400330 MITF Health Risk Pathogenic Waardenburg syndrome type 2A, Waardenburg syndrome type 2A
RS2066406973 NHS Health Risk Pathogenic Nance-Horan syndrome, Nance-Horan syndrome
RS2066412135 MYRF Health Risk Pathogenic —
RS2066424636 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2066425550 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, X-linked Alport syndrome
RS2066425897 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2066428351 COL4A5 Health Risk Likely pathogenic Alport syndrome, Alport syndrome
RS2066435557 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, Thyroid cancer
RS2066444344 NHS Health Risk Pathogenic Nance-Horan syndrome, Nance-Horan syndrome
RS2066444872 TCTN1 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2066445430 MYRF Health Risk Likely pathogenic Congenital diaphragmatic hernia, Heart
RS2066454000 NHS Health Risk Pathogenic Nance-Horan syndrome, Nance-Horan syndrome
RS2066456693 MAG Health Risk Pathogenic Hereditary spastic paraplegia 75, Hereditary spastic paraplegia 75
RS2066464 MTHFR Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, MTHFR-related disorder
RS2066464113 NHS Health Risk Pathogenic —
RS2066466759 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2066471565 ACO2 Health Risk Pathogenic —
RS2066476390 MYRF Health Risk Conflicting classifications of pathogenicity Congenital diaphragmatic hernia, Heart
RS2066476444 MYRF Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2066476573 MYRF Health Risk Likely pathogenic Cardiac-urogenital syndrome, Cardiac-urogenital syndrome
RS2066482511 MITF Health Risk Pathogenic —
RS2066482593 MITF Health Risk Pathogenic Waardenburg syndrome type 2A, Tietz syndrome
RS2066485367 ACO2 Health Risk Likely pathogenic —
RS2066505057 MYRF Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2066505220 NF1 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2066505718 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2066505751 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066506904 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066506934 NF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2066507116 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066507272 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2066507556 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2066507887 NF1 Health Risk Pathogenic —
RS2066508210 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2066508538 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066508712 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066509100 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066509240 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066509487 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066510244 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2066510391 NF1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2066510417 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2066510443 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066512609 ACO2 Health Risk Pathogenic/Likely pathogenic Optic neuropathy, Optic neuropathy
RS2066514 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, SMARCAL1-related disorder
RS2066517 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2066519027 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066519077 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2066519253 NF1 Health Risk Pathogenic —
RS2066519362 MAG Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 75, Hereditary spastic paraplegia 75
RS2066519416 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066519656 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066519692 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066519817 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2066520 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, Kidney disorder
RS2066520145 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2066520848 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066522265 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2066527385 NF1 Health Risk Likely pathogenic —
RS2066527734 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066527837 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2066528020 COL4A5 Health Risk Likely pathogenic Alport syndrome, Alport syndrome
RS2066528136 MYRF Health Risk Pathogenic Cardiac-urogenital syndrome, Disorder of sexual differentiation
RS2066528976 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2066529461 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2066529521 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2066529931 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2066532 FMO3 Health Risk Conflicting classifications of pathogenicity Trimethylaminuria, Colon adenocarcinoma
RS2066538446 ACO2 Health Risk Pathogenic Infantile cerebellar-retinal degeneration, Infantile cerebellar-retinal degeneration
RS2066542728 COL4A5 Health Risk Pathogenic Alport syndrome, Alport syndrome
RS2066559023 CASK Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2066568818 COL4A5 Health Risk Pathogenic Focal segmental glomerulosclerosis, X-linked Alport syndrome
RS2066570950 ACO2 Health Risk Pathogenic —
RS2066578388 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2066579666 TCTN1 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2066580454 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2066581489 NF2 Health Risk Pathogenic Familial meningioma, Familial meningioma
RS2066587912 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2066594367 ACO2 Health Risk Pathogenic Infantile cerebellar-retinal degeneration, Infantile cerebellar-retinal degeneration
RS2066618684 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066618707 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2066618784 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066619128 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066619428 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066619565 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066621144 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066621213 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066621671 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066622088 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2066625021 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2066625376 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, X-linked Alport syndrome
RS2066626118 COL4A5 Health Risk Pathogenic —
RS2066627184 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2066627294 COL4A5 Health Risk Pathogenic —
RS2066636714 COL4A5 Health Risk Pathogenic/Likely pathogenic Alport syndrome, X-linked Alport syndrome
RS2066638829 ACO2 Health Risk Conflicting classifications of pathogenicity Optic atrophy 9, Optic atrophy 9
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