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
RS2508552605 B9D1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2508566475 RAI1 Health Risk Conflicting classifications of pathogenicity —
RS2508567532 RAI1 Health Risk Pathogenic Smith-Magenis syndrome, Smith-Magenis syndrome
RS2508567631 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2508567726 RAI1 Health Risk Pathogenic Smith-Magenis syndrome, Smith-Magenis syndrome
RS2508567901 RAI1 Health Risk Likely pathogenic Smith-Magenis syndrome, Smith-Magenis syndrome
RS2508568958 RAI1 Health Risk Pathogenic —
RS2508569038 RAI1 Health Risk Pathogenic —
RS2508569046 MYH3 Health Risk Pathogenic —
RS2508569160 RAI1 Health Risk Likely pathogenic RAI1-related disorder, RAI1-related disorder
RS2508569771 RAI1 Health Risk Likely pathogenic Syndromic intellectual disability, Syndromic intellectual disability
RS2508569976 RAI1 Health Risk Likely pathogenic Smith-Magenis syndrome, Smith-Magenis syndrome
RS2508570088 RAI1 Health Risk Pathogenic —
RS2508571561 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2508571701 MYH3 Health Risk Pathogenic —
RS2508572032 RAI1 Health Risk Pathogenic Smith-Magenis syndrome, Smith-Magenis syndrome
RS2508572124 IFT140 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 80, Saldino-Mainzer syndrome
RS2508572127 RAI1 Health Risk Pathogenic —
RS2508572306 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS2508572820 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS2508572957 RAI1 Health Risk Pathogenic —
RS2508575839 RAI1 Health Risk Pathogenic Smith-Magenis syndrome, Smith-Magenis syndrome
RS2508577262 RAI1 Health Risk Likely pathogenic Smith-Magenis syndrome, Smith-Magenis syndrome
RS2508577352 RAI1 Health Risk Pathogenic —
RS2508577759 MYH3 Health Risk Likely pathogenic Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome
RS2508577969 RAI1 Health Risk Pathogenic Smith-Magenis syndrome, Smith-Magenis syndrome
RS2508578544 MYH3 Health Risk Likely pathogenic MYH3-related disorder, MYH3-related disorder
RS2508580281 RAI1 Health Risk Pathogenic —
RS2508580813 RAI1 Health Risk Pathogenic Smith-Magenis syndrome, Smith-Magenis syndrome
RS2508581126 RAI1 Health Risk Pathogenic —
RS2508581992 RAI1 Health Risk Likely pathogenic RAI1-related disorder, RAI1-related disorder
RS2508583396 RAI1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Smith-Magenis syndrome
RS2508583461 RAI1 Health Risk Pathogenic Smith-Magenis syndrome, Smith-Magenis syndrome
RS2508583911 RAI1 Health Risk Pathogenic —
RS2508585255 RAI1 Health Risk Likely pathogenic RAI1-related disorder, RAI1-related disorder
RS2508586127 RAI1 Health Risk Pathogenic —
RS2508586323 RAI1 Health Risk Likely pathogenic Smith-Magenis syndrome, Smith-Magenis syndrome
RS2508587478 RAI1 Health Risk Likely pathogenic Smith-Magenis syndrome, Smith-Magenis syndrome
RS2508592574 MYH3 Health Risk Pathogenic —
RS2508595763 MYH3 Health Risk Pathogenic/Likely pathogenic —
RS2508595899 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS2508595907 SMARCE1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2508596024 SMARCE1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial meningioma
RS2508596385 MYH3 Health Risk Likely pathogenic —
RS2508596395 MYH3 Health Risk Likely pathogenic Freeman-Sheldon syndrome, Freeman-Sheldon syndrome
RS2508597255 SMARCE1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2508597454 SMARCE1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial meningioma
RS2508598327 SMARCE1 Health Risk Likely pathogenic Familial meningioma, Familial meningioma
RS2508598488 SMARCE1 Health Risk Pathogenic Familial meningioma, Familial meningioma
RS2508598492 SMARCE1 Health Risk Likely pathogenic Familial meningioma, Familial meningioma
RS2508598549 SMARCE1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial meningioma
RS2508599743 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2508601282 MYH3 Health Risk Likely pathogenic MYH3-related disorder, MYH3-related disorder
RS2508603360 MYH3 Health Risk Likely pathogenic —
RS2508603561 SMARCE1 Health Risk Pathogenic Familial meningioma, Familial meningioma
RS2508603762 SMARCE1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2508603823 SMARCE1 Health Risk Pathogenic Familial meningioma, Familial meningioma
RS2508604668 SMARCE1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial meningioma
RS2508604703 SMARCE1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2508604717 SMARCE1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2508605867 MYH3 Health Risk Likely pathogenic Freeman-Sheldon syndrome, Freeman-Sheldon syndrome
RS2508612985 MYH3 Health Risk Likely pathogenic —
RS2508613715 MYH3 Health Risk Likely pathogenic MYH3-related disorder, MYH3-related disorder
RS2508614011 MYH3 Health Risk Likely pathogenic —
RS2508620380 MYH3 Health Risk Pathogenic —
RS2508621465 MYH3 Health Risk Pathogenic —
RS2508627354 MYH3 Health Risk Pathogenic —
RS2508630786 MYH3 Health Risk Pathogenic —
RS2508635033 MYH3 Health Risk Likely pathogenic Arthrogryposis, distal
RS2508637956 MYH3 Health Risk Likely pathogenic —
RS2508638061 MYH3 Health Risk Pathogenic —
RS2508639104 PARN Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 6
RS2508640323 PARN Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 6
RS2508643762 MYH3 Health Risk Pathogenic —
RS2508657357 EIF5A Health Risk Likely pathogenic —
RS2508658475 PARN Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 6
RS2508661900 SUZ12 Health Risk Likely pathogenic Imagawa-Matsumoto syndrome, Imagawa-Matsumoto syndrome
RS2508662320 SUZ12 Health Risk Likely pathogenic Imagawa-Matsumoto syndrome, Imagawa-Matsumoto syndrome
RS2508673713 EIF5A Health Risk Likely pathogenic Faundes-Banka syndrome, Faundes-Banka syndrome
RS2508674028 EIF5A Health Risk Likely pathogenic —
RS2508675963 EIF5A Health Risk Likely pathogenic —
RS2508677290 SUZ12 Health Risk Likely pathogenic Imagawa-Matsumoto syndrome, Imagawa-Matsumoto syndrome
RS2508684640 SUZ12 Health Risk Likely pathogenic Imagawa-Matsumoto syndrome, Imagawa-Matsumoto syndrome
RS2508693927 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508694092 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508694271 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508694321 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508694334 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508694361 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508694473 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508694547 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis-Noonan syndrome, Neurofibromatosis
RS2508694660 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508694786 NF1 Health Risk Pathogenic NF1-related disorder, NF1-related disorder
RS2508694797 NF1 Health Risk Likely pathogenic Juvenile myelomonocytic leukemia, Juvenile myelomonocytic leukemia
RS2508694806 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508694851 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508694884 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2508694932 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508695004 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508695148 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
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