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
RS61752874 RPE65 Health Risk Likely pathogenic —
RS61752875 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, RPE65-related recessive retinopathy
RS61752876 RPE65 Health Risk Likely pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS61752877 RPE65 Health Risk Pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS61752880 RPE65 Health Risk Likely pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS61752882 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, RPE65-related recessive retinopathy
RS61752883 RPE65 Health Risk Pathogenic Retinitis pigmentosa 20, RPE65-related disorder
RS61752884 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Autosomal recessive retinitis pigmentosa
RS61752888 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS61752891 RPE65 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 2, Leber congenital amaurosis 2
RS61752892 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS61752895 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS61752896 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS61752899 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS61752902 RPE65 Health Risk Pathogenic Retinal dystrophy, Leber congenital amaurosis 2
RS61752903 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Leber congenital amaurosis 2
RS61752904 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 87 with choroidal involvement
RS61752905 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS61752906 RPE65 Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 20
RS61752908 RPE65 Health Risk Likely pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS61752909 RPE65 Health Risk Pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS61752920 FANCF Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group F
RS61752926 PDHX Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency
RS61752937 TYRP1 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 3, Oculocutaneous albinism type 3
RS61752939 TYRP1 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 3, TYRP1-related disorder
RS61752971 OCRL Health Risk Conflicting classifications of pathogenicity Developmental cataract, Lowe syndrome
RS61752992 MECP2 Health Risk Pathogenic Rett syndrome, zappella variant
RS61753011 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS61753017 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa
RS61753019 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS61753020 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61753021 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61753023 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, ABCA4-related disorder
RS61753025 ABCA4 Health Risk Pathogenic/Likely pathogenic Stargardt disease, Stargardt disease
RS61753026 ABCA4 Health Risk Pathogenic —
RS61753028 ABCA4 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS61753029 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Age related macular degeneration 2
RS61753030 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Stargardt disease
RS61753032 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS61753033 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Stargardt disease
RS61753034 ABCA4 Health Risk Pathogenic Stargardt disease, Stargardt disease
RS61753035 ABCA4 Health Risk Pathogenic —
RS61753036 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS61753037 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61753038 ABCA4 Health Risk Pathogenic Cone-rod dystrophy 3, Age related macular degeneration 2
RS61753039 ABCA4 Health Risk Likely pathogenic Cone-rod dystrophy 3, Age related macular degeneration 2
RS61753040 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS61753043 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa 19
RS61753044 ABCA4 Health Risk Likely pathogenic —
RS61753045 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61753046 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Cone dystrophy
RS61753057 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, ABCA4-related disorder
RS61753094 BRAT1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS61753138 NLRP1 Health Risk Conflicting classifications of pathogenicity NLRP1-related disorder, NLRP1-related disorder
RS61753139 NLRP1 Health Risk Conflicting classifications of pathogenicity NLRP1-related disorder, NLRP1-related disorder
RS61753146 CHD3 Health Risk Conflicting classifications of pathogenicity CHD3-related disorder, CHD3-related disorder
RS61753148 SCO1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Inborn genetic diseases
RS61753156 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS61753164 RS1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Juvenile retinoschisis
RS61753167 RS1 Health Risk Likely pathogenic —
RS61753169 RS1 Health Risk Pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS61753170 RS1 Health Risk Pathogenic Retinal dystrophy, Juvenile retinoschisis
RS61753171 RS1 Health Risk Likely pathogenic Juvenile retinoschisis, Retinal dystrophy
RS61753173 RS1 Health Risk Likely pathogenic —
RS61753174 RS1 Health Risk Likely pathogenic Retinal dystrophy, Juvenile retinoschisis
RS61753175 RS1 Health Risk Pathogenic —
RS61753178 TYR Health Risk Pathogenic Oculocutaneous albinism type 1A, SKIN/HAIR/EYE PIGMENTATION 3
RS61753179 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 1B, Oculocutaneous albinism type 1B
RS61753180 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1B
RS61753181 TYR Health Risk Pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS61753182 TYR Health Risk Pathogenic/Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS61753184 TYR Health Risk Pathogenic Oculocutaneous albinism type 1A, SKIN/HAIR/EYE PIGMENTATION 3
RS61753185 TYR Health Risk Pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1B
RS61753187 TYR Health Risk Pathogenic/Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS61753188 TYR Health Risk Conflicting classifications of pathogenicity TYR-related disorder, TYR-related disorder
RS61753189 TYR Health Risk Likely pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1A
RS61753190 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 1A, Abnormality of the skin
RS61753209 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B
RS61753210 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Heimler syndrome 2
RS61753211 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder
RS61753212 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B
RS61753213 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Heimler syndrome 2
RS61753215 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 4A (Zellweger)
RS61753219 PEX6 Health Risk Pathogenic/Likely pathogenic Heimler syndrome 2, Inborn genetic diseases
RS61753220 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder
RS61753223 PEX6 Health Risk Likely pathogenic Heimler syndrome 2, Peroxisome biogenesis disorder 4A (Zellweger)
RS61753224 PEX6 Health Risk Pathogenic/Likely pathogenic Heimler syndrome 2, Peroxisome biogenesis disorder
RS61753225 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Zellweger spectrum disorders
RS61753228 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS61753229 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B
RS61753230 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 4A (Zellweger)
RS61753231 PEX6 Health Risk Conflicting classifications of pathogenicity PEX6-related disorder, Peroxisome biogenesis disorder
RS61753233 PEX7 Health Risk Pathogenic/Likely pathogenic Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
RS61753236 PEX7 Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
RS61753237 PEX7 Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
RS61753238 PEX7 Health Risk Pathogenic Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1
RS61753240 PEX7 Health Risk Likely pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS61753245 PEX7 Health Risk Pathogenic/Likely pathogenic Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
RS61753248 PEX7 Health Risk Pathogenic/Likely pathogenic Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
RS61753251 CDKL5 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 2
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