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
RS2153502277 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2153502348 COL3A1 Health Risk Pathogenic —
RS2153502383 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2153502405 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2153502406 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2153502433 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2153502437 COL3A1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2153502447 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2153502448 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2153502552 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS2153502611 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS2153502685 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2153502692 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS2153502803 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2153502988 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2153502995 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS2153503006 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS2153503009 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2153503019 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS2153503061 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2153503066 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2153503227 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2153503300 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2153503368 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2153503377 COL3A1 Health Risk Likely pathogenic —
RS2153503381 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS2153503430 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2153503462 COL3A1 Health Risk Likely pathogenic —
RS2153503495 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2153503498 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2153503630 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2153503632 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS2153503634 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2153503790 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2153503888 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS2153503895 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS2153503896 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2153503949 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2153503975 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS2153503988 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS2153504069 COL3A1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS2153504329 COL3A1 Health Risk Pathogenic —
RS2153504449 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2153506167 COL5A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2153507285 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS2153515061 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153515167 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153515796 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153521056 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS2153536214 DDC Health Risk Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS2153537904 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS2153545926 DDC Health Risk Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS2153550461 DDC Health Risk Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS2153552671 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2153553617 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS2153553633 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153554020 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS2153556225 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2153561495 GPHN Health Risk Pathogenic/Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2153572497 CACNA1C Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, language delay
RS2153573358 ANK2 Health Risk Likely pathogenic —
RS2153574675 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153574857 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153585533 BRCA1 Health Risk Pathogenic Malignant tumor of breast, Malignant tumor of breast
RS2153615795 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153615926 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153617573 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy
RS2153617810 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153619687 SYNE1 Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS2153628887 SYNE1 Health Risk Pathogenic —
RS2153647595 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153647734 NEB Health Risk Pathogenic Nemaline myopathy 2, NEB-related disorder
RS2153648002 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS2153655212 CACNA1C Health Risk Likely pathogenic Hypotonia, Hypotonia
RS2153655235 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS2153657682 NEB Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS2153659861 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153668269 GPHN Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2153668310 GPHN Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2153685300 GPHN Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2153692395 SYNE2 Health Risk Conflicting classifications of pathogenicity Spastic ataxia, Emery-Dreifuss muscular dystrophy 5
RS2153700128 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS2153700736 BRCA1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2153702280 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS2153702473 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Nemaline myopathy
RS2153703181 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153707696 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2153709458 SYNE1 Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS2153709491 CACNA1C Health Risk Likely pathogenic Neurodevelopmental delay, CACNA1C-related disorder
RS2153711477 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153712099 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153712182 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153713163 CACNA1C Health Risk Pathogenic —
RS2153715439 SYNE2 Health Risk Pathogenic Cerebral palsy, Cerebral palsy
RS2153717733 GPHN Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2153725036 SYNE1 Health Risk Likely pathogenic Autosomal recessive ataxia, Beauce type
RS2153729614 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153729960 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153732048 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS2153739049 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
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