SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS886038496 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS886038502 ELANE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS886038537 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS886038542 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS886038567 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome
RS886038576 FMO3 Health Risk Likely pathogenic —
RS886038607 CEP164 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 15, Nephronophthisis 15
RS886038614 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS886038619 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome 7, Meckel syndrome
RS886038640 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS886038656 SELENON Health Risk Conflicting classifications of pathogenicity SEPN1-related disorder, SEPN1-related disorder
RS886038660 SELENON Health Risk Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS886038668 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS886038669 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS886038684 GNPTAB Health Risk Conflicting classifications of pathogenicity Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS886038694 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS886038704 BBS4 Health Risk Conflicting classifications of pathogenicity —
RS886038709 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS886038722 TTN Health Risk Conflicting classifications of pathogenicity —
RS886038737 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS886038738 TMEM67 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 6, Meckel syndrome
RS886038746 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS886038751 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS886038763 TH Health Risk Conflicting classifications of pathogenicity —
RS886038765 CUL3 Health Risk Likely pathogenic Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2A
RS886038766 FBN1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS886038769 FBN1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS886038770 SMAD3 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS886038783 TGFBR1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS886038785 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS886038786 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan syndrome
RS886038787 TGFBR2 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Familial thoracic aortic aneurysm and aortic dissection
RS886038790 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS886038791 TBX1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, DiGeorge syndrome
RS886038794 TGFBR2 Health Risk Pathogenic Cardiovascular phenotype, Loeys-Dietz syndrome 2
RS886038795 FBN1 Health Risk Likely pathogenic Cardiovascular phenotype, Familial thoracic aortic aneurysm and aortic dissection
RS886038797 FBN1 Health Risk Pathogenic Cardiovascular phenotype, Familial thoracic aortic aneurysm and aortic dissection
RS886038802 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS886038803 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome
RS886038804 FBN1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS886038816 COL3A1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS886038817 FBN1 Health Risk Pathogenic Cardiovascular phenotype, Marfan syndrome
RS886038822 MYBPC3 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS886038823 FBN1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS886038825 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS886038831 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS886038836 SMAD3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Aneurysm-osteoarthritis syndrome
RS886038838 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS886038839 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886038846 FBN1 Health Risk Pathogenic Cardiovascular phenotype, Familial thoracic aortic aneurysm and aortic dissection
RS886038847 TGFBR2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS886038848 FBN1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
RS886038849 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS886038852 ACTA2 Health Risk Likely pathogenic Aortic aneurysm, familial thoracic 6
RS886038853 COL3A1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS886038866 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, Cardiovascular phenotype
RS886038869 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS886038870 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS886038873 TXNRD2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Primary dilated cardiomyopathy
RS886038877 FBN1 Health Risk Likely pathogenic Cardiovascular phenotype, Familial thoracic aortic aneurysm and aortic dissection
RS886038886 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS886038888 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS886038892 COL3A1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, See cases
RS886038894 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS886038895 COL3A1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Ehlers-Danlos syndrome
RS886038897 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS886038898 FBN1 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS886038901 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS886038905 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS886038906 LMNA Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS886038916 TTN Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886038918 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS886038919 TGFBR1 Health Risk Pathogenic/Likely pathogenic Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS886038920 COL3A1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS886038925 COL3A1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS886038928 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886038929 DSP Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 8
RS886038930 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS886038931 FBN1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial thoracic aortic aneurysm and aortic dissection
RS886038932 MYH11 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Aortic aneurysm
RS886038935 FBN2 Health Risk Likely pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS886038937 FBN1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS886038940 FBN1 Health Risk Likely pathogenic Marfan syndrome, Isolated thoracic aortic aneurysm
RS886038941 FBN1 Health Risk Pathogenic Cardiovascular phenotype, Familial thoracic aortic aneurysm and aortic dissection
RS886038942 FBN2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Congenital contractural arachnodactyly
RS886038943 FBN1 Health Risk Likely pathogenic Cardiovascular phenotype, Familial thoracic aortic aneurysm and aortic dissection
RS886038949 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS886038952 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS886038953 FBN1 Health Risk Likely pathogenic Isolated thoracic aortic aneurysm, Familial thoracic aortic aneurysm and aortic dissection
RS886038954 TGFBR1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS886038955 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS886038956 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS886038957 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS886038959 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS886038961 SMAD3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Aneurysm-osteoarthritis syndrome
RS886038963 FBN1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Marfan syndrome
RS886038966 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS886038967 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS886038970 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS886038971 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
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