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
RS2545822092 SZT2 Health Risk Pathogenic —
RS2545822994 FOXP1 Health Risk Pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS2545823182 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2545823444 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2545823560 DYSF Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy
RS2545823705 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS2545823906 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS2545823922 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS2545824104 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS2545824574 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS2545824673 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS2545824873 SZT2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2545825608 SZT2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 18
RS2545826385 SZT2 Health Risk Pathogenic —
RS2545826394 SZT2 Health Risk Likely pathogenic —
RS2545827197 SZT2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 18
RS2545827443 SPEG Health Risk Pathogenic —
RS2545829648 SZT2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2545834731 ITGB4 Health Risk Likely pathogenic —
RS2545834880 ITGB4 Health Risk Pathogenic —
RS2545834964 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS2545835165 SZT2 Health Risk Pathogenic —
RS2545838508 TPO Health Risk Pathogenic —
RS2545839250 ITGB4 Health Risk Pathogenic —
RS2545841178 SZT2 Health Risk Pathogenic —
RS2545841470 SZT2 Health Risk Likely pathogenic —
RS2545841476 ITGB4 Health Risk Pathogenic —
RS2545841708 SZT2 Health Risk Pathogenic —
RS2545841958 SZT2 Health Risk Likely pathogenic —
RS2545842119 SZT2 Health Risk Likely pathogenic —
RS2545848982 ITGB4 Health Risk Pathogenic —
RS2545850014 SZT2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 18
RS2545850576 ITGB4 Health Risk Pathogenic —
RS2545850643 SZT2 Health Risk Pathogenic —
RS2545850999 SZT2 Health Risk Pathogenic —
RS2545851200 SZT2 Health Risk Pathogenic —
RS2545852484 RSPRY1 Health Risk Pathogenic Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome, Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
RS2545852780 SZT2 Health Risk Likely pathogenic —
RS2545852869 LRP2 Health Risk Pathogenic —
RS2545853590 SZT2 Health Risk Pathogenic —
RS2545855843 TPO Health Risk Likely pathogenic Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS2545856529 SZT2 Health Risk Pathogenic —
RS2545857117 SZT2 Health Risk Likely pathogenic —
RS2545857531 SZT2 Health Risk Pathogenic —
RS2545858260 TRIM37 Health Risk Pathogenic —
RS2545865194 TMEM94 Health Risk Likely pathogenic TMEM94-related disorder, TMEM94-related disorder
RS2545865930 SZT2 Health Risk Pathogenic —
RS2545867076 SPEG Health Risk Pathogenic SPEG-related disorder, SPEG-related disorder
RS2545867555 ITGB4 Health Risk Likely pathogenic ITGB4-related disorder, ITGB4-related disorder
RS2545867748 ITGB4 Health Risk Pathogenic —
RS2545868763 SZT2 Health Risk Pathogenic —
RS2545868804 ITGB4 Health Risk Pathogenic —
RS2545872938 FOXP1 Health Risk Pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS2545873293 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2545873713 FOXP1 Health Risk Likely pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS2545875559 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2545875669 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS2545875803 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS2545875886 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2545876644 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS2545876679 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2545876835 SZT2 Health Risk Likely pathogenic —
RS2545877072 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS2545877361 DYSF Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2545878700 ITGB4 Health Risk Pathogenic —
RS2545878890 ITGB4 Health Risk Pathogenic Epidermolysis bullosa, junctional 5A
RS2545879408 ITGB4 Health Risk Pathogenic —
RS2545880403 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2545884453 ITGB4 Health Risk Pathogenic —
RS2545884988 ITGB4 Health Risk Pathogenic —
RS2545885560 FOXP1 Health Risk Likely pathogenic —
RS2545885692 ITGB4 Health Risk Likely pathogenic Melanoma, Melanoma
RS2545886648 ITGB4 Health Risk Pathogenic —
RS2545887085 ITGB4 Health Risk Pathogenic —
RS2545887560 ITGB4 Health Risk Pathogenic —
RS2545888966 ITGB4 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa, junctional 5A
RS2545893385 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS2545893534 LRBA Health Risk Likely pathogenic —
RS2545893731 LRBA Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS2545898782 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2545899422 GALK1 Health Risk Pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2545899470 GALK1 Health Risk Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2545899596 GALK1 Health Risk Pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2545899880 GALK1 Health Risk Pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2545900132 GALK1 Health Risk Pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2545900183 GALK1 Health Risk Pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2545900206 GALK1 Health Risk Pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2545900232 GALK1 Health Risk Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2545900278 GALK1 Health Risk Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2545900296 GALK1 Health Risk Pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2545900350 GALK1 Health Risk Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2545900373 GALK1 Health Risk Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2545901248 SPEG Health Risk Pathogenic —
RS2545903065 GALK1 Health Risk Pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2545903117 GALK1 Health Risk Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2545903185 GALK1 Health Risk Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2545903420 GALK1 Health Risk Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2545903458 GALK1 Health Risk Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2545903471 GALK1 Health Risk Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2545903484 GALK1 Health Risk Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
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