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
RS2123615453 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2123620765 COL6A2 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2123625485 COL6A2 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2123625569 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2123625716 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2123626018 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2123626073 COL6A2 Health Risk Pathogenic —
RS2123626138 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2123627113 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2123628251 COL6A2 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2123628814 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2123628848 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2123631474 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Ovarian serous cystadenocarcinoma
RS2123632697 COL6A2 Health Risk Likely pathogenic —
RS2123646701 COL6A2 Health Risk Pathogenic —
RS2123646873 COL6A2 Health Risk Pathogenic/Likely pathogenic Ullrich congenital muscular dystrophy 1B, Ullrich congenital muscular dystrophy 1B
RS2123647622 PEX26 Health Risk Likely pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7A (Zellweger)
RS2123651193 ADA2 Health Risk Pathogenic Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2
RS2123654642 PEX26 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS2123657331 PEX26 Health Risk Likely pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS2123660828 COL6A2 Health Risk Likely pathogenic Abnormality of the musculature, Abnormality of the musculature
RS2123661865 COL6A2 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2123663539 COL6A2 Health Risk Pathogenic —
RS2123663616 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2123664803 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2123678139 U2AF2 Health Risk Pathogenic/Likely pathogenic Developmental delay, dysmorphic facies
RS2123678169 U2AF2 Health Risk Pathogenic —
RS2123681235 IFNAR1 Health Risk Pathogenic —
RS2123691990 U2AF2 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2123699776 ADA2 Health Risk Pathogenic Sneddon syndrome, Sneddon syndrome
RS2123699789 TUBA8 Health Risk Pathogenic Macrothrombocytopenia, isolated
RS2123709418 ADA2 Health Risk Conflicting classifications of pathogenicity Deficiency of adenosine deaminase 2, Sneddon syndrome
RS2123738324 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS2123739840 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS2123739871 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS2123739943 CRX Health Risk Pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS2123742895 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS2123743110 CRX Health Risk Likely pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS2123743155 CRX Health Risk Pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS2123743175 CRX Health Risk Pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS2123743184 CRX Health Risk Pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS2123743198 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Leber congenital amaurosis 7
RS2123743219 CRX Health Risk Likely pathogenic Cone-rod dystrophy 2, Cone-rod dystrophy 2
RS2123743235 CRX Health Risk Pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS2123743284 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Leber congenital amaurosis 7
RS2123743320 CRX Health Risk Pathogenic Cone-rod dystrophy 2, Cone-rod dystrophy 2
RS2123743359 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS2123743395 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS2123743577 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS2123743692 CRX Health Risk Pathogenic Cone-rod dystrophy 2, Retinal dystrophy
RS2123758710 LSS Health Risk Likely pathogenic Alopecia-intellectual disability syndrome 4, Alopecia-intellectual disability syndrome 4
RS2123797291 IL17RA Health Risk Likely pathogenic Immunodeficiency 51, Immunodeficiency 51
RS2123798029 IL17RA Health Risk Pathogenic Immunodeficiency 51, Immunodeficiency 51
RS2123827619 MCM3AP Health Risk Pathogenic —
RS2123832235 MCM3AP Health Risk Likely pathogenic —
RS2123834953 MCM3AP Health Risk Pathogenic —
RS2123851661 MCM3AP Health Risk Pathogenic Peripheral neuropathy, autosomal recessive
RS2123873148 MN1 Health Risk Likely pathogenic CEBALID syndrome, CEBALID syndrome
RS2123993600 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2123993603 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Nonpapillary renal cell carcinoma
RS2123994155 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2123994176 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2123994187 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2123994190 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2123994213 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2123994237 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2123994251 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2123994360 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2123994397 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2123994508 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2123994709 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2123994828 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2123994875 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2123994946 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2123994961 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2123995054 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2123995091 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2123996355 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2123996454 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2123997081 F8 Health Risk Conflicting classifications of pathogenicity Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2123997676 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2123997870 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2123997982 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2124000594 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2124002050 ZMPSTE24 Health Risk Pathogenic —
RS2124005167 CDC42 Health Risk Likely pathogenic —
RS2124005776 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2124006012 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2124006380 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2124006398 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2124006451 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2124007227 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, type II
RS2124008235 PUM1 Health Risk Likely pathogenic Spastic ataxia, Spastic ataxia
RS2124008285 PUM1 Health Risk Pathogenic Spinocerebellar ataxia 47, Spinocerebellar ataxia 47
RS2124020031 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2124020278 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2124020552 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2124020573 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2124020632 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2124020665 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
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