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
RS2124020775 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2124020896 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2124040438 COL9A2 Health Risk Likely pathogenic See cases, See cases
RS2124040785 COL9A2 Health Risk Pathogenic —
RS2124041126 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2124041510 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2124041750 FOXE3 Health Risk Pathogenic Congenital primary aphakia, Congenital primary aphakia
RS2124042006 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2124042297 FOXE3 Health Risk Likely pathogenic Congenital primary aphakia, Congenital primary aphakia
RS2124042660 FOXE3 Health Risk Likely pathogenic Congenital primary aphakia, Anterior segment dysgenesis
RS2124042965 FOXE3 Health Risk Likely pathogenic —
RS2124043258 FOXE3 Health Risk Conflicting classifications of pathogenicity Anterior segment dysgenesis, Congenital primary aphakia
RS2124043339 FOXE3 Health Risk Pathogenic Congenital primary aphakia, Congenital primary aphakia
RS2124044159 CLDN19 Health Risk Pathogenic Renal hypomagnesemia 5 with ocular involvement, Renal hypomagnesemia 5 with ocular involvement
RS2124045053 FOXE3 Health Risk Conflicting classifications of pathogenicity Congenital primary aphakia, Anterior segment dysgenesis
RS2124045186 FOXE3 Health Risk Pathogenic Cataract 34 multiple types, Cataract 34 multiple types
RS2124045967 FRMD7 Health Risk Likely pathogenic —
RS2124046017 FRMD7 Health Risk Pathogenic —
RS2124046210 FRMD7 Health Risk Pathogenic —
RS2124046861 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2124046923 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2124046974 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2124048012 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2124048199 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2124049493 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2124050215 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2124050272 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2124052011 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2124053251 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2124053783 CDC42 Health Risk Likely pathogenic See cases, See cases
RS2124053916 COL9A2 Health Risk Pathogenic —
RS2124053934 CDC42 Health Risk Pathogenic —
RS2124054281 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2124055161 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2124055167 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2124055267 ADPRS Health Risk Likely pathogenic Neurodegeneration, childhood-onset
RS2124055341 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2124055460 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2124055504 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2124056600 ARID1A Health Risk Pathogenic Intellectual disability, autosomal dominant 14
RS2124062571 COL9A2 Health Risk Likely pathogenic Epiphyseal dysplasia, multiple
RS2124062810 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2124062961 ARID1A Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2124063075 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2124063133 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2124063287 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2124063616 ARID1A Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2124063783 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2124063841 ARID1A Health Risk Likely pathogenic —
RS2124065699 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2124065847 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2124065955 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2124066296 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS2124067653 ARID1A Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2124069318 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2124069617 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2124069687 ARID1A Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2124070263 ARID1A Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2124071974 P3H1 Health Risk Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2124072579 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2124076001 IGSF1 Health Risk Pathogenic —
RS2124076040 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2124076122 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2124076966 P3H1 Health Risk Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2124077667 P3H1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2124079876 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2124081540 ARID1A Health Risk Pathogenic ARID1A-related BAFopathy, ARID1A-related BAFopathy
RS2124082382 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2124082390 COL9A2 Health Risk Likely pathogenic See cases, See cases
RS2124082414 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2124082775 SASH3 Health Risk Likely pathogenic Immunodeficiency 102, Immunodeficiency 102
RS2124083267 SASH3 Health Risk Pathogenic Immunodeficiency 102, Immunodeficiency 102
RS2124084444 SASH3 Health Risk Pathogenic Immunodeficiency 102, Immunodeficiency 102
RS2124086560 ARID1A Health Risk Pathogenic Intellectual disability, autosomal dominant 14
RS2124087389 ARID1A Health Risk Likely pathogenic ARID1A-related BAFopathy, ARID1A-related BAFopathy
RS2124087488 ARID1A Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2124087634 ARID1A Health Risk Likely pathogenic Intellectual disability, autosomal dominant 14
RS2124087817 ARID1A Health Risk Pathogenic —
RS2124090120 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2124093521 P3H1 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta type 8
RS2124094299 F8 Health Risk Likely pathogenic Thrombophilia, X-linked
RS2124094327 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2124094420 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2124097438 ARID1A Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 14
RS2124097454 IGSF1 Health Risk Pathogenic —
RS2124099163 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2124099224 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2124100025 CLCNKB Health Risk Likely pathogenic —
RS2124102347 CLCNKB Health Risk Likely pathogenic Bartter disease type 3, Bartter disease type 3
RS2124103620 GPC4 Health Risk Likely pathogenic —
RS2124103896 ARID1A Health Risk Conflicting classifications of pathogenicity —
RS2124105158 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2124105418 F8 Health Risk Pathogenic —
RS2124105703 ZDHHC9 Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability Raymond type, Syndromic X-linked intellectual disability Raymond type
RS2124105757 ZDHHC9 Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability Raymond type, Syndromic X-linked intellectual disability Raymond type
RS2124105898 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2124106016 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2124106062 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2124107312 CSF3R Health Risk Likely pathogenic —
RS2124109849 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
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