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
RS2469858111 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS2469858380 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS2469858602 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS2469858844 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS2469859573 COL4A3 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS2469859818 COL4A3 Health Risk Likely pathogenic —
RS2469860236 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS2469860660 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469861021 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469861547 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469862075 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2469863067 COL4A3 Health Risk Likely pathogenic —
RS2469863365 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS2469863486 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469863799 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Hematuria
RS2469863831 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2469864130 BCS1L Health Risk Pathogenic —
RS2469865195 MBD5 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 1
RS2469865292 COL6A3 Health Risk Likely pathogenic Ullrich congenital muscular dystrophy 1A, Ullrich congenital muscular dystrophy 1A
RS2469865789 COL4A3 Health Risk Likely pathogenic Alport syndrome 3b, autosomal recessive
RS2469865804 COL4A3 Health Risk Likely pathogenic Alport syndrome 3b, autosomal recessive
RS2469865930 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2469866005 COL4A3 Health Risk Likely pathogenic —
RS2469866015 COL4A3 Health Risk Likely pathogenic —
RS2469866613 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS2469867055 COL6A3 Health Risk Pathogenic Bethlem myopathy 1C, Bethlem myopathy 1C
RS2469867117 COL6A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Bethlem myopathy 1A
RS2469867274 BCS1L Health Risk Pathogenic —
RS2469867473 MBD5 Health Risk Likely pathogenic —
RS2469868154 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469868272 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS2469868293 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469868522 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS2469868631 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS2469868875 BCS1L Health Risk Conflicting classifications of pathogenicity —
RS2469869076 BCS1L Health Risk Likely pathogenic GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1
RS2469871803 BCS1L Health Risk Likely pathogenic Neonatal encephalopathy, Pili torti-deafness syndrome
RS2469871880 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469872185 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469872310 MBD5 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 1
RS2469872324 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2469873434 BCS1L Health Risk Likely pathogenic —
RS2469873818 BCS1L Health Risk Likely pathogenic Pili torti-deafness syndrome, Mitochondrial complex III deficiency nuclear type 1
RS2469874383 BCS1L Health Risk Pathogenic —
RS2469874620 BCS1L Health Risk Pathogenic —
RS2469879669 BCS1L Health Risk Likely pathogenic GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1
RS2469879768 ITPR1 Health Risk Likely pathogenic Gillespie syndrome, Gillespie syndrome
RS2469879795 COL4A3 Health Risk Pathogenic —
RS2469879851 BCS1L Health Risk Likely pathogenic Pili torti-deafness syndrome, Pili torti-deafness syndrome
RS2469880076 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2469880171 BCS1L Health Risk Likely pathogenic GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1
RS2469880434 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2469880668 BCS1L Health Risk Likely pathogenic —
RS2469880740 COL4A3 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS2469880848 BCS1L Health Risk Pathogenic —
RS2469881143 BCS1L Health Risk Likely pathogenic Pili torti-deafness syndrome, Mitochondrial complex III deficiency nuclear type 1
RS2469881916 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469883327 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2469883432 COL6A3 Health Risk Likely pathogenic COL6A3-related disorder, COL6A3-related disorder
RS2469883983 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469884530 ITPR1 Health Risk Pathogenic —
RS2469884673 COL6A3 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2469885136 BCS1L Health Risk Likely pathogenic Pili torti-deafness syndrome, Pili torti-deafness syndrome
RS2469885359 BCS1L Health Risk Pathogenic —
RS2469885478 COL4A3 Health Risk Pathogenic/Likely pathogenic Alport syndrome, Alport syndrome
RS2469885681 COL4A3 Health Risk Pathogenic —
RS2469885706 COL4A3 Health Risk Pathogenic —
RS2469886224 COL4A3 Health Risk Pathogenic —
RS2469887657 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469888162 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469888379 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2469888970 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469889006 BCS1L Health Risk Likely pathogenic Pili torti-deafness syndrome, Pili torti-deafness syndrome
RS2469889068 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2469889428 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2469889654 BCS1L Health Risk Likely pathogenic Pili torti-deafness syndrome, Pili torti-deafness syndrome
RS2469889765 BCS1L Health Risk Likely pathogenic GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1
RS2469890152 BCS1L Health Risk Pathogenic —
RS2469890626 BCS1L Health Risk Likely pathogenic Pili torti-deafness syndrome, Pili torti-deafness syndrome
RS2469890771 BCS1L Health Risk Likely pathogenic —
RS2469891210 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469891712 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469893628 BCS1L Health Risk Likely pathogenic Pili torti-deafness syndrome, Pili torti-deafness syndrome
RS2469895386 DIS3L2 Health Risk Pathogenic Perlman syndrome, Perlman syndrome
RS2469895875 DIS3L2 Health Risk Likely pathogenic Perlman syndrome, Perlman syndrome
RS2469897768 BCS1L Health Risk Likely pathogenic Pili torti-deafness syndrome, Pili torti-deafness syndrome
RS2469897807 BCS1L Health Risk Likely pathogenic Pili torti-deafness syndrome, Pili torti-deafness syndrome
RS2469899610 ALS2 Health Risk Likely pathogenic Juvenile primary lateral sclerosis, Amyotrophic lateral sclerosis type 2
RS2469900041 ALS2 Health Risk Likely pathogenic Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS2469900458 TTN Health Risk Likely pathogenic —
RS2469901335 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469901730 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469902547 FANCD2 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2469904584 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469904729 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Hematuria
RS2469904884 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2469904962 COL4A3 Health Risk Likely pathogenic Alport syndrome 3b, autosomal recessive
RS2469905125 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS2469905368 COL6A3 Health Risk Likely pathogenic —
RS2469906284 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
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