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
RS2519918613 RP2 Health Risk Pathogenic —
RS2519918676 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS2519918702 RP2 Health Risk Pathogenic —
RS2519918709 RP2 Health Risk Pathogenic Retinitis pigmentosa 2, Retinitis pigmentosa 2
RS2519921731 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2519922156 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2519922410 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2519924091 NHS Health Risk Pathogenic Cataract 40, Ovarian serous cystadenocarcinoma
RS2519927267 RPGR Health Risk Likely pathogenic Primary ciliary dyskinesia, RPGR-related retinopathy
RS2519927471 NHS Health Risk Pathogenic Nance-Horan syndrome, Nance-Horan syndrome
RS2519927569 NHS Health Risk Likely pathogenic Nance-Horan syndrome, Cataract 40
RS2519928443 RP2 Health Risk Pathogenic —
RS2519928455 RP2 Health Risk Pathogenic —
RS2519928496 RP2 Health Risk Pathogenic —
RS2519928505 RP2 Health Risk Pathogenic —
RS2519929432 AP1S2 Health Risk Likely pathogenic —
RS2519929717 AP1S2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2519929746 AP1S2 Health Risk Pathogenic —
RS2519929822 AP1S2 Health Risk Likely pathogenic Pettigrew syndrome, Pettigrew syndrome
RS2519930695 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS2519935536 NHS Health Risk Conflicting classifications of pathogenicity Nance-Horan syndrome, Nance-Horan syndrome
RS2519936481 ATRX Health Risk Likely pathogenic Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
RS2519937826 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2519938626 NHS Health Risk Pathogenic Nance-Horan syndrome, Nance-Horan syndrome
RS2519938991 NHS Health Risk Pathogenic Nance-Horan syndrome, Nance-Horan syndrome
RS2519939810 NHS Health Risk Pathogenic Nance-Horan syndrome, Nance-Horan syndrome
RS2519940981 NHS Health Risk Pathogenic/Likely pathogenic Nance-Horan syndrome, Nance-Horan syndrome
RS2519941556 NHS Health Risk Pathogenic Nance-Horan syndrome, Nance-Horan syndrome
RS2519941830 ATRX Health Risk Pathogenic Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS2519941885 NHS Health Risk Likely pathogenic Nance-Horan syndrome, Nance-Horan syndrome
RS2519941939 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2519945087 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2519949224 DEPDC5 Health Risk Likely pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2519950487 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2519951682 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS2519952390 OTC Health Risk Pathogenic —
RS2519952395 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2519952402 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2519954454 ATRX Health Risk Pathogenic Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS2519959270 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2519963370 UBQLN2 Health Risk Likely pathogenic UBQLN2-related disorder, UBQLN2-related disorder
RS2519972989 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2519973556 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2519974595 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2519975343 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2519975441 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2519975452 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2519978937 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2519979325 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2519979361 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2519979419 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2519979431 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2519979459 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2519986909 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2519986961 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2520005872 EFNB1 Health Risk Likely pathogenic Craniofrontonasal syndrome, Craniofrontonasal syndrome
RS2520012737 EFNB1 Health Risk Pathogenic Craniofrontonasal syndrome, Craniofrontonasal syndrome
RS2520012748 EFNB1 Health Risk Likely pathogenic —
RS2520012780 EFNB1 Health Risk Likely pathogenic Craniofrontonasal syndrome, Craniofrontonasal syndrome
RS2520012797 EFNB1 Health Risk Pathogenic Craniofrontonasal syndrome, Craniofrontonasal syndrome
RS2520014009 CHM Health Risk Pathogenic —
RS2520014015 CHM Health Risk Pathogenic —
RS2520014175 CHM Health Risk Pathogenic —
RS2520014545 CHM Health Risk Pathogenic —
RS2520014610 CHM Health Risk Pathogenic —
RS2520014655 CHM Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2520014875 CHM Health Risk Pathogenic Choroideremia, Choroideremia
RS2520014897 CHM Health Risk Likely pathogenic —
RS2520018459 BCOR Health Risk Likely pathogenic Oculofaciocardiodental syndrome (OFCD), Oculofaciocardiodental syndrome (OFCD)
RS2520020650 DMD Health Risk Likely pathogenic Elevated circulating creatine kinase concentration, Elevated circulating creatine kinase concentration
RS2520021065 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS2520022633 DMD Health Risk Pathogenic —
RS2520022878 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2520023216 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2520023450 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2520024317 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS2520027760 CHM Health Risk Pathogenic —
RS2520028194 CHM Health Risk Likely pathogenic Choroideremia, Choroideremia
RS2520028297 CHM Health Risk Pathogenic CHM-related disorder, Choroideremia
RS2520029962 ATRX Health Risk Conflicting classifications of pathogenicity Intellectual disability-hypotonic facies syndrome, X-linked
RS2520030124 ATRX Health Risk Likely pathogenic Intellectual disability-hypotonic facies syndrome, X-linked
RS2520032988 ARHGEF9 Health Risk Likely pathogenic —
RS2520039276 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS2520058084 BCOR Health Risk Pathogenic —
RS2520063904 BCOR Health Risk Conflicting classifications of pathogenicity Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS2520071379 CHM Health Risk Pathogenic —
RS2520071979 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS2520072012 CHM Health Risk Pathogenic —
RS2520079176 ATRX Health Risk Likely pathogenic Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS2520083089 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS2520090573 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2520092645 DEPDC5 Health Risk Pathogenic Seizure, Seizure
RS2520095426 CHM Health Risk Pathogenic —
RS2520095436 CHM Health Risk Pathogenic/Likely pathogenic Choroideremia, Choroideremia
RS2520097855 CHM Health Risk Pathogenic —
RS2520098232 CHM Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2520098282 CHM Health Risk Pathogenic —
RS2520098357 CHM Health Risk Pathogenic —
RS2520105884 BCOR Health Risk Likely pathogenic BCOR-related disorder, BCOR-related disorder
RS2520112715 BCOR Health Risk Likely pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
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