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
RS2511374731 SMAD4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2511375455 LAMA3 Health Risk Likely pathogenic —
RS2511375641 LAMA3 Health Risk Likely pathogenic —
RS2511376274 LAMA3 Health Risk Likely pathogenic —
RS2511376597 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS2511376733 SMAD4 Health Risk Pathogenic Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Juvenile polyposis syndrome
RS2511376740 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2511376860 SMAD4 Health Risk Pathogenic Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
RS2511376874 SMAD4 Health Risk Pathogenic Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
RS2511376942 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2511377137 SMAD4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2511377165 SMAD4 Health Risk Pathogenic Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
RS2511377220 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2511377320 SMAD4 Health Risk Pathogenic Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
RS2511377350 SMAD4 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
RS2511377408 SMAD4 Health Risk Pathogenic/Likely pathogenic Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre syndrome
RS2511377439 SMAD4 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
RS2511377496 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2511378688 SMAD4 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
RS2511378694 SMAD4 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
RS2511378745 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2511378972 DCC Health Risk Likely pathogenic DCC-related disorder, DCC-related disorder
RS2511380376 LAMA3 Health Risk Likely pathogenic —
RS2511381156 LAMA3 Health Risk Pathogenic —
RS2511382133 LAMA3 Health Risk Pathogenic —
RS2511382811 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2511382851 SMAD4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2511382987 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2511384558 SMAD4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2511384705 SMAD4 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2511384720 SMAD4 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
RS2511384799 SMAD4 Health Risk Pathogenic/Likely pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2511384813 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2511384815 SMAD4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2511387782 MOCOS Health Risk Likely pathogenic Xanthinuria type II, Xanthinuria type II
RS2511389551 SMAD4 Health Risk Pathogenic Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
RS2511389664 SMAD4 Health Risk Pathogenic Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
RS2511389821 SMAD4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2511390167 MOCOS Health Risk Likely pathogenic MOCOS-related disorder, MOCOS-related disorder
RS2511391107 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2511391185 SMAD4 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
RS2511391289 SMAD4 Health Risk Pathogenic Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
RS2511391321 SMAD4 Health Risk Pathogenic Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
RS2511392287 LAMA3 Health Risk Pathogenic —
RS2511394914 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511395868 LOXHD1 Health Risk Likely pathogenic —
RS2511396500 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS2511396663 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS2511397357 LOXHD1 Health Risk Pathogenic —
RS2511400484 LAMA3 Health Risk Pathogenic —
RS2511401085 LAMA3 Health Risk Likely pathogenic —
RS2511406297 LAMA3 Health Risk Pathogenic —
RS2511406882 LAMA3 Health Risk Likely pathogenic Epidermolysis bullosa, junctional 2A
RS2511410848 DCC Health Risk Likely pathogenic Mirror movements 1, Mirror movements 1
RS2511412926 LAMA3 Health Risk Pathogenic —
RS2511416555 BPTF Health Risk Conflicting classifications of pathogenicity —
RS2511429439 LAMA3 Health Risk Pathogenic —
RS2511430431 LAMA3 Health Risk Likely pathogenic —
RS2511436930 SMARCD2 Health Risk Likely pathogenic —
RS2511440459 LAMA3 Health Risk Likely pathogenic —
RS2511440529 LAMA3 Health Risk Pathogenic —
RS2511441543 LAMA3 Health Risk Pathogenic —
RS2511442438 SMARCD2 Health Risk Pathogenic —
RS2511445744 SMARCD2 Health Risk Likely pathogenic —
RS2511450718 SMARCD2 Health Risk Likely pathogenic —
RS2511450754 BPTF Health Risk Pathogenic Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
RS2511450998 DCC Health Risk Pathogenic —
RS2511451201 DCC Health Risk Pathogenic Mirror movements 1, Mirror movements 1
RS2511453409 GREB1L Health Risk Likely pathogenic —
RS2511454945 DCC Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2511456928 DCC Health Risk Likely pathogenic Mirror movements 1, Mirror movements 1
RS2511458400 LAMA3 Health Risk Likely pathogenic —
RS2511459485 LAMA3 Health Risk Pathogenic —
RS2511459687 LAMA3 Health Risk Likely pathogenic —
RS2511464204 GREB1L Health Risk Pathogenic GREB1L-related disorder, GREB1L-related disorder
RS2511464216 SETBP1 Health Risk Pathogenic —
RS2511464232 SETBP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 29
RS2511464713 GREB1L Health Risk Likely pathogenic Renal hypodysplasia/aplasia 3, Renal hypodysplasia/aplasia 3
RS2511466006 SETBP1 Health Risk Pathogenic —
RS2511466330 SETBP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 29
RS2511466498 SETBP1 Health Risk Pathogenic —
RS2511467580 SETBP1 Health Risk Likely pathogenic Schinzel-Giedion syndrome, Intellectual disability
RS2511467736 SETBP1 Health Risk Pathogenic —
RS2511468802 SETBP1 Health Risk Pathogenic —
RS2511469942 SETBP1 Health Risk Likely pathogenic Schinzel-Giedion syndrome, Schinzel-Giedion syndrome
RS2511470526 DCC Health Risk Pathogenic —
RS2511471460 SETBP1 Health Risk Pathogenic —
RS2511472011 LAMA3 Health Risk Pathogenic —
RS2511472252 LAMA3 Health Risk Likely pathogenic LAMA3-related disorder, LAMA3-related disorder
RS2511472457 SETBP1 Health Risk Pathogenic SETBP1-related disorder, SETBP1-related disorder
RS2511473025 SETBP1 Health Risk Pathogenic —
RS2511473390 SETBP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 29
RS2511477180 DNAH17 Health Risk Likely pathogenic DNAH17-related disorder, DNAH17-related disorder
RS2511477723 SETBP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 29
RS2511478140 LAMA3 Health Risk Pathogenic —
RS2511479478 GREB1L Health Risk Likely pathogenic GREB1L-related disorder, GREB1L-related disorder
RS2511481026 LOXHD1 Health Risk Pathogenic —
RS2511481049 LOXHD1 Health Risk Pathogenic —
RS2511482068 LOXHD1 Health Risk Pathogenic —
RS2511482489 LOXHD1 Health Risk Pathogenic —
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