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
RS2510859617 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS2510860466 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS2510860730 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS2510860847 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS2510860947 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS2510873581 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS2510873882 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS2510874108 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS2510874136 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS2510878113 ARSG Health Risk Pathogenic —
RS2510878653 TACO1 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 8
RS2510879184 ARSG Health Risk Likely pathogenic —
RS2510886408 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS2510889949 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS2510890611 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS2510890643 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS2510890824 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS2510890872 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS2510890974 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS2510892439 TBCD Health Risk Pathogenic —
RS2510893463 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS2510893525 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS2510893618 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS2510893832 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS2510894157 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS2510894183 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS2510894192 SGSH Health Risk Pathogenic —
RS2510894208 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS2510894240 DSC3 Health Risk Likely pathogenic —
RS2510894278 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS2510894297 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS2510897829 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS2510897873 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS2510897985 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS2510898674 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS2510903631 DSG2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2510903672 DSG2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2510905619 TBCD Health Risk Likely pathogenic —
RS2510906108 TBCD Health Risk Pathogenic —
RS2510907457 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2510909052 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS2510909137 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS2510909196 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS2510909324 SGSH Health Risk Likely pathogenic See cases, See cases
RS2510910018 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS2510910367 DSG2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2510910826 DSG2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2510910881 DSG2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2510911012 DSG2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2510911038 DSG2 Health Risk Likely pathogenic —
RS2510911089 DSG2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2510911160 DSG2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2510911170 DSG2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2510911656 DSG2 Health Risk Pathogenic Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10
RS2510912814 DSG2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2510912913 DSG2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2510915835 ASXL3 Health Risk Likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2510915938 ASXL3 Health Risk Likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2510916120 ASXL3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2510916449 ASXL3 Health Risk Pathogenic/Likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2510916454 ASXL3 Health Risk Pathogenic —
RS2510916552 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2510916589 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2510916787 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2510916863 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2510916922 ASXL3 Health Risk Likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2510916984 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2510917065 ASXL3 Health Risk Likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2510917105 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2510917271 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS2510917290 DSG2 Health Risk Likely pathogenic —
RS2510917341 DSG2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2510917365 DSG2 Health Risk Pathogenic —
RS2510917611 TBCD Health Risk Pathogenic —
RS2510917769 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular cardiomyopathy
RS2510917990 ASXL3 Health Risk Pathogenic —
RS2510918263 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2510918307 ASXL3 Health Risk Likely pathogenic —
RS2510918489 ASXL3 Health Risk Likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2510918585 ASXL3 Health Risk Likely pathogenic ASXL3-related disorder, ASXL3-related disorder
RS2510918753 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2510918902 DSG2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2510919512 ASXL3 Health Risk Likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2510919909 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS2510920014 DSG2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2510920042 DSG2 Health Risk Likely pathogenic Cardiovascular phenotype, Arrhythmogenic right ventricular cardiomyopathy
RS2510920197 ASXL3 Health Risk Likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2510920856 DSG2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2510920888 DSG2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2510920972 ASXL3 Health Risk Likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2510922295 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10
RS2510922441 DSG2 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS2510922661 DSG2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS2510924015 ASXL3 Health Risk Pathogenic —
RS2510924026 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2510924694 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2510925319 ASXL3 Health Risk Likely pathogenic Rare syndromic intellectual disability, Rare syndromic intellectual disability
RS2510925548 ASXL3 Health Risk Likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2510925752 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS2510926476 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
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