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
RS193253559 PEX12 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 3A (Zellweger), Inborn genetic diseases
RS193257576 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS193261408 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS1932632616 PDGFB Health Risk Likely pathogenic Basal ganglia calcification, idiopathic
RS193265138 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS193267972 GSS Health Risk Conflicting classifications of pathogenicity Inherited glutathione synthetase deficiency, Inborn genetic diseases
RS193271416 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases
RS193272250 ETS1 Health Risk Likely pathogenic ETS1-related disorder, ETS1-related disorder
RS193275092 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1932758693 MN1 Health Risk Pathogenic CEBALID syndrome, CEBALID syndrome
RS1932758837 MN1 Health Risk Likely pathogenic MN1 C-terminal truncation (MCTT) syndrome, MN1 C-terminal truncation (MCTT) syndrome
RS1932759453 MN1 Health Risk Likely pathogenic MN1 C-terminal truncation (MCTT) syndrome, MN1 C-terminal truncation (MCTT) syndrome
RS193284839 MPDZ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS193291760 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1932931896 CFAP44 Health Risk Likely pathogenic CFAP44-related disorder, CFAP44-related disorder
RS1932981715 ANOS1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS193298428 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype
RS1933016162 GK Health Risk Likely pathogenic Inborn genetic diseases, Inborn glycerol kinase deficiency
RS193302438 OBSCN Health Risk Conflicting classifications of pathogenicity Rhabdomyolysis, susceptibility to
RS193302847 GNPTG Health Risk Pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS193302848 GNPTG Health Risk Pathogenic GNPTG-mucolipidosis, Retinal dystrophy
RS193302849 GNPTG Health Risk Pathogenic/Likely pathogenic GNPTG-mucolipidosis, Rod-cone dystrophy
RS193302852 GNPTG Health Risk Pathogenic —
RS193302853 GNPTG Health Risk Pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS193302854 GNPTG Health Risk Pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS193302855 GNPTG Health Risk Pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS193302856 GNPTG Health Risk Pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS193302858 GNPTG Health Risk Pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS193302859 GNPTG Health Risk Pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS193302861 SLITRK1 Health Risk Pathogenic Trichotillomania, Tourette syndrome
RS193302864 EFEMP2 Health Risk Pathogenic/Likely pathogenic Cutis laxa, autosomal recessive
RS193302865 EFEMP2 Health Risk Pathogenic Cutis laxa, autosomal recessive
RS193302866 EFEMP2 Health Risk Pathogenic Cutis laxa, autosomal recessive
RS193302867 EFEMP2 Health Risk Pathogenic/Likely pathogenic Cutis laxa, autosomal recessive
RS193302868 EFEMP2 Health Risk Pathogenic Cutis laxa, autosomal recessive
RS193302869 EFEMP2 Health Risk Pathogenic Cutis laxa, autosomal recessive
RS193302870 EFEMP2 Health Risk Pathogenic Cutis laxa, autosomal recessive
RS193302871 SERPINF1 Health Risk Pathogenic Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6
RS193302872 SERPINF1 Health Risk Pathogenic Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6
RS193302873 SERPINF1 Health Risk Pathogenic Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6
RS193302876 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia
RS193302877 SLC37A4 Health Risk Conflicting classifications of pathogenicity Glucose-6-phosphate transport defect, Phosphate transport defect
RS193302878 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS193302879 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS193302880 SLC37A4 Health Risk Pathogenic/Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS193302881 SLC37A4 Health Risk Pathogenic/Likely pathogenic Glucose-6-phosphate transport defect, Phosphate transport defect
RS193302882 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Congenital disorder of glycosylation
RS193302883 SLC37A4 Health Risk Pathogenic/Likely pathogenic Glucose-6-phosphate transport defect, Phosphate transport defect
RS193302884 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS193302885 SLC37A4 Health Risk Pathogenic/Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS193302887 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS193302888 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS193302889 SLC37A4 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type I
RS193302890 SLC37A4 Health Risk Pathogenic/Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS193302891 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Phosphate transport defect
RS193302892 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS193302893 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Congenital disorder of glycosylation
RS193302894 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS193302903 SLC37A4 Health Risk Pathogenic/Likely pathogenic Glucose-6-phosphate transport defect, Glycogen storage disease type 1 due to SLC37A4 mutation
RS193302904 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS193302905 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS193302906 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS193302907 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS193302908 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS193302909 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS193302910 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS193302911 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS193302912 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS193302913 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS193302914 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS193303018 MT-TL1 Health Risk Likely pathogenic Myelodysplastic syndrome, MELAS syndrome
RS193303102 NOBOX Health Risk Pathogenic Premature ovarian failure 5, Premature ovarian failure 5
RS193303103 NOBOX Health Risk Pathogenic Premature ovarian failure 5, Premature ovarian failure 5
RS193303104 NOBOX Health Risk Pathogenic Premature ovarian failure 5, Premature ovarian failure 5
RS1933151965 ZRSR2 Health Risk Likely pathogenic Severe hydrocephalus, Median cleft lip and palate
RS1933190705 MID2 Health Risk Likely pathogenic Intellectual disability, X-linked 101
RS1933254254 CLCN5 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1933254834 CLCN5 Health Risk Likely pathogenic Dent disease type 1, Dent disease type 1
RS1933255436 CLCN5 Health Risk Pathogenic Proteinuria, low molecular weight
RS1933257247 CLCN5 Health Risk Likely pathogenic Dent disease type 1, Dent disease type 1
RS1933302820 MN1 Health Risk Conflicting classifications of pathogenicity CEBALID syndrome, MN1 C-terminal truncation (MCTT) syndrome
RS1933304057 MN1 Health Risk Likely pathogenic MN1 C-terminal truncation (MCTT) syndrome, MN1 C-terminal truncation (MCTT) syndrome
RS1933308051 MN1 Health Risk Pathogenic CEBALID syndrome, CEBALID syndrome
RS1933329681 SLCO2A1 Health Risk Pathogenic Hypertrophic osteoarthropathy, primary
RS1933335869 NSDHL Health Risk Likely pathogenic —
RS1933337210 NSDHL Health Risk Pathogenic —
RS1933378166 MN1 Health Risk Pathogenic CEBALID syndrome, CEBALID syndrome
RS1933378481 CLCN5 Health Risk Likely pathogenic Thyroid cancer, nonmedullary
RS1933380245 CLCN5 Health Risk Pathogenic Dent disease type 1, Dent disease type 1
RS1933387717 MN1 Health Risk Likely pathogenic —
RS1933401338 MN1 Health Risk Likely pathogenic —
RS1933405005 PHEX Health Risk Pathogenic —
RS1933408913 PHEX Health Risk Pathogenic Nonpapillary renal cell carcinoma, Hypophosphatemic rickets
RS1933409121 PHEX Health Risk Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1933458497 SLCO2A1 Health Risk Likely pathogenic Hypertrophic osteoarthropathy, primary
RS1933531491 SLC9A9 Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS1933652537 CLCN5 Health Risk Pathogenic Nephrotic syndrome, Nephrotic syndrome
RS1933713383 CLCN5 Health Risk Likely pathogenic Nephrotic syndrome, X-linked recessive nephrolithiasis with renal failure
RS1933773048 PHEX Health Risk Pathogenic —
RS1933775645 PHEX Health Risk Pathogenic —
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