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
RS2152770295 DST Health Risk Pathogenic Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS2152770696 NBEA Health Risk Pathogenic —
RS2152773598 SKIC3 Health Risk Likely pathogenic —
RS2152777457 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2152780514 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2152786967 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS2152788089 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2152791033 DYSF Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS2152792645 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2152792714 DYSF Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS2152796748 BRCA1 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2152799718 HDAC4 Health Risk Likely pathogenic —
RS2152800486 HERC1 Health Risk Likely pathogenic —
RS2152811000 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2152811004 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2152811441 DYSF Health Risk Likely pathogenic —
RS2152811529 ATG7 Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive 31
RS2152811823 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS2152811869 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS2152813916 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
RS2152813970 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2152814060 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS2152814567 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2152814618 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2152819923 UBE3A Health Risk Likely pathogenic Angelman syndrome, Angelman syndrome
RS2152821411 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2152822637 UBE3A Health Risk Likely pathogenic See cases, See cases
RS2152822941 NEB Health Risk Likely pathogenic Nemaline myopathy, Nemaline myopathy
RS2152822956 DYSF Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS2152823877 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS2152826353 CBLB Health Risk Pathogenic Autoimmune disease, multisystem
RS2152829108 NEB Health Risk Pathogenic Nemaline myopathy 2, Ovarian serous cystadenocarcinoma
RS2152843443 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2152843484 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
RS2152848080 UBE3A Health Risk Likely pathogenic Angelman syndrome, Angelman syndrome
RS2152848314 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS2152850167 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2152855735 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2152855822 DYSF Health Risk Pathogenic Abnormality of the musculature, Abnormality of the musculature
RS2152855991 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Abnormality of the musculature
RS2152859973 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
RS2152861747 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
RS2152861881 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2152863770 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2152874815 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2152875407 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2152876033 NEB Health Risk Likely pathogenic —
RS2152876293 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2152876577 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS2152877211 DYSF Health Risk Likely pathogenic —
RS2152878049 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2152894046 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2152903817 RARS1 Health Risk Pathogenic —
RS2152910468 HERC1 Health Risk Likely pathogenic See cases, See cases
RS2152915773 SYNE1 Health Risk Pathogenic —
RS2152917882 HDAC4 Health Risk Pathogenic Neurodevelopmental disorder with central hypotonia and dysmorphic facies, Neurodevelopmental disorder with central hypotonia and dysmorphic facies
RS2152917896 HDAC4 Health Risk Pathogenic Neurodevelopmental disorder with central hypotonia and dysmorphic facies, Neurodevelopmental disorder with central hypotonia and dysmorphic facies
RS2152924667 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2152925644 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2152930968 NBEA Health Risk Likely pathogenic Neurodevelopmental disorder with or without early-onset generalized epilepsy, Neurodevelopmental disorder with or without early-onset generalized epilepsy
RS2152937269 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2152937799 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy
RS2152940909 DYSF Health Risk Pathogenic/Likely pathogenic Abnormality of the musculature, Miyoshi muscular dystrophy 1
RS2152940961 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy
RS2152941075 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2152944295 KCNMA1 Health Risk Pathogenic Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS2152950672 DYSF Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS2152950744 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2152951164 HDAC4 Health Risk Likely pathogenic —
RS2152951747 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2152951812 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2152951851 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy
RS2152954992 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2152955557 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2152955939 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS2152956005 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS2152956502 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
RS2152956531 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2152961243 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
RS2152961374 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy
RS2152967730 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2152967769 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
RS2152967795 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS2152967860 DYSF Health Risk Pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS2152967880 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2152967906 DYSF Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS2152970043 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
RS2152970089 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2152971975 DYSF Health Risk Pathogenic/Likely pathogenic Abnormality of the musculature, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS2152976526 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy
RS2152979136 HERC1 Health Risk Likely pathogenic —
RS2152991690 NEB Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS2152992966 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2152998141 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2152998142 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2153009764 CRYBA1 Health Risk Likely pathogenic Cataract 10 multiple types, Cataract 10 multiple types
RS2153015244 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2153015588 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2153015607 IDUA Health Risk Pathogenic Mucopolysaccharidosis, MPS-I-H/S
RS2153015621 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Hurler syndrome
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