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
RS2505549946 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505550075 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505550140 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505550546 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505550565 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505551595 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505552383 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, FBN1-related disorder
RS2505552798 FBN1 Health Risk Likely pathogenic —
RS2505552838 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505552887 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505553093 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505553444 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505553574 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505553681 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS2505553741 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS2505553844 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505553870 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505557469 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505557615 FBN1 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505557619 ATP6V0C Health Risk Pathogenic EPILEPSY, EARLY-ONSET
RS2505557639 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505557763 ATP6V0C Health Risk Pathogenic EPILEPSY, EARLY-ONSET
RS2505557860 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505557918 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS2505557986 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505557999 ATP6V0C Health Risk Pathogenic Epilepsy, early-onset
RS2505558024 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505558156 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505558168 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505558188 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505558291 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505558311 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505558480 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505558579 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505558718 AMDHD2;ATP6V0C Health Risk Likely pathogenic EPILEPSY, EARLY-ONSET
RS2505558868 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505558924 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505558964 ATP6V0C Health Risk Pathogenic Epilepsy, early-onset
RS2505558967 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505559037 CHD2 Health Risk Pathogenic Lennox-Gastaut syndrome, Lennox-Gastaut syndrome
RS2505559061 ATP6V0C Health Risk Likely pathogenic —
RS2505559100 ATP6V0C Health Risk Likely pathogenic —
RS2505559102 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505559108 ATP6V0C Health Risk Pathogenic EPILEPSY, EARLY-ONSET
RS2505559150 ATP6V0C Health Risk Likely pathogenic See cases, See cases
RS2505559153 ATP6V0C Health Risk Likely pathogenic —
RS2505559205 ATP6V0C Health Risk Pathogenic —
RS2505559214 ATP6V0C Health Risk Pathogenic EPILEPSY, EARLY-ONSET
RS2505561257 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS2505561427 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505561874 BLM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2505561919 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS2505562545 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505562587 CHD2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2505563283 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505564245 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505564326 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS2505564445 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505564466 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Familial thoracic aortic aneurysm and aortic dissection
RS2505564482 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505564594 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505564723 FBN1 Health Risk Pathogenic 8 conditions, Marfan syndrome
RS2505566477 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS2505567330 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2505568693 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS2505568752 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505568808 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505569617 OCA2 Health Risk Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS2505570620 ALDH1A3 Health Risk Likely pathogenic Isolated microphthalmia 8, Isolated microphthalmia 8
RS2505570622 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505570787 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS2505570881 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505570930 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505570932 ALDH1A3 Health Risk Pathogenic Isolated microphthalmia 8, Isolated microphthalmia 8
RS2505571206 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS2505571907 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505572133 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505572137 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505572153 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505573390 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505573561 FBN1 Health Risk Likely pathogenic FBN1-related disorder, FBN1-related disorder
RS2505573626 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS2505573722 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS2505573862 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505573903 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS2505575070 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS2505576040 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505576106 FBN1 Health Risk Pathogenic —
RS2505576288 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505576295 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505576300 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505576330 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505576497 ALDH1A3 Health Risk Likely pathogenic Isolated microphthalmia 8, Isolated microphthalmia 8
RS2505576546 FBN1 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505576650 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505576912 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505576939 CHD2 Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder, Developmental and epileptic encephalopathy 94
RS2505576945 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505576989 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505580243 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
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