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
RS61754427 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS61754428 MECP2 Health Risk Pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS61754430 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS61754431 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS61754432 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS61754436 MECP2 Health Risk Pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS61754437 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS61754438 MECP2 Health Risk Pathogenic/Likely pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS61754441 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS61754447 MECP2 Health Risk Conflicting classifications of pathogenicity Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS61754448 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS61754452 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS61754453 MECP2 Health Risk Likely pathogenic Rett syndrome, Angelman syndrome
RS61754455 MECP2 Health Risk Pathogenic/Likely pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS61754456 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS61754457 MECP2 Health Risk Pathogenic/Likely pathogenic Rett syndrome, X-linked intellectual disability-psychosis-macroorchidism syndrome
RS61754458 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS61754459 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS61754478 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS61754490 SERPINA7 Health Risk Pathogenic Thyroxine-binding globulin, Chicago
RS61754503 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS61754525 MED17 Health Risk Conflicting classifications of pathogenicity Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, Ovarian serous cystadenocarcinoma
RS61754534 VCAN Health Risk Conflicting classifications of pathogenicity Vitreoretinopathy, Wagner disease
RS61754582 GDF9 Health Risk Conflicting classifications of pathogenicity —
RS61754634 GPI Health Risk Conflicting classifications of pathogenicity Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS61754640 GPSM2 Health Risk Conflicting classifications of pathogenicity Chudley-McCullough syndrome, Melanoma
RS61754767 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Autoinflammatory syndrome
RS61754769 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS61754780 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS61754783 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS61754796 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS61754850 ADAMTS7 Health Risk Conflicting classifications of pathogenicity —
RS61754865 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS61754921 PKDCC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PKDCC-related disorder
RS61754966 NBN Health Risk Conflicting classifications of pathogenicity Aplastic anemia, Leukemia
RS61754967 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS61754978 TGS1 Health Risk Conflicting classifications of pathogenicity —
RS61754979 TGS1 Health Risk Conflicting classifications of pathogenicity —
RS61755039 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, NIPBL-related disorder
RS61755062 NDRG1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D
RS61755173 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS61755182 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS61755320 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Spastic Paraplegia
RS61755357 DDX3X Health Risk Likely pathogenic Intellectual disability, X-linked 102
RS61755444 PLCG2 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3, Acute myeloid leukemia
RS61755579 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Noonan syndrome 9
RS61755595 WNK4 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2B, Pseudohypoaldosteronism type 2B
RS61755600 WNK4 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2B, Pseudohypoaldosteronism type 2B
RS61755602 WNK4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS61755607 WNK4 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2B, Pseudohypoaldosteronism type 2B
RS61755628 WNK4 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2B, Inborn genetic diseases
RS61755653 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS61755705 HIF1A Health Risk Conflicting classifications of pathogenicity Maffucci syndrome, Maffucci syndrome
RS61755731 HSPD1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS61755760 MECP2 Health Risk Conflicting classifications of pathogenicity Rett syndrome, Syndromic X-linked intellectual disability Lubs type
RS61755761 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS61755762 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS61755763 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS61755765 PRPH2 Health Risk Pathogenic Retinitis punctata albescens, autosomal dominant
RS61755766 PRPH2 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, PRPH2-related disorder
RS61755767 PRPH2 Health Risk Conflicting classifications of pathogenicity PRPH2-related disorder, Stargardt disease
RS61755768 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS61755769 PRPH2 Health Risk Pathogenic Retinal dystrophy, Stargardt disease
RS61755771 PRPH2 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 7, PRPH2-related disorder
RS61755774 PRPH2 Health Risk Likely pathogenic PRPH2-related disorder, PRPH2-related disorder
RS61755775 PRPH2 Health Risk Pathogenic PRPH2-related disorder, Choroidal dystrophy
RS61755776 PRPH2 Health Risk Pathogenic Retinitis pigmentosa, PRPH2-related disorder
RS61755777 PRPH2 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 7, Retinitis pigmentosa 7
RS61755778 PRPH2 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS61755780 PRPH2 Health Risk Likely pathogenic PRPH2-related disorder, Retinal dystrophy
RS61755781 PRPH2 Health Risk Pathogenic/Likely pathogenic Patterned macular dystrophy 1, PRPH2-related disorder
RS61755783 PRPH2 Health Risk Pathogenic/Likely pathogenic Choroidal dystrophy, central areolar 2
RS61755784 PRPH2 Health Risk Pathogenic maculopathy, Stargardt disease
RS61755785 PRPH2 Health Risk Pathogenic/Likely pathogenic PRPH2-related disorder, Retinitis pigmentosa
RS61755786 PRPH2 Health Risk Pathogenic Retinitis pigmentosa 7, Patterned macular dystrophy 1
RS61755787 PRPH2 Health Risk Likely pathogenic Blurred vision, Abnormal retinal pigmentation
RS61755788 PRPH2 Health Risk Conflicting classifications of pathogenicity PRPH2-related disorder, Retinitis pigmentosa
RS61755789 PRPH2 Health Risk Likely pathogenic Patterned macular dystrophy 1, PRPH2-related disorder
RS61755790 PRPH2 Health Risk Likely pathogenic —
RS61755792 PRPH2 Health Risk Likely pathogenic Choroidal dystrophy, central areolar 2
RS61755793 PRPH2 Health Risk Likely pathogenic Choroidal dystrophy, central areolar 2
RS61755794 PRPH2 Health Risk Likely pathogenic Retinitis pigmentosa 7, PRPH2-related disorder
RS61755795 PRPH2 Health Risk Conflicting classifications of pathogenicity PRPH2-related disorder, Retinitis pigmentosa 7
RS61755796 PRPH2 Health Risk Likely pathogenic Retinitis pigmentosa, PRPH2-related disorder
RS61755797 PRPH2 Health Risk Pathogenic Vitelliform macular dystrophy 2, PRPH2-related disorder
RS61755798 PRPH2 Health Risk Pathogenic/Likely pathogenic PRPH2-related disorder, Patterned dystrophy of the retinal pigment epithelium
RS61755799 PRPH2 Health Risk Pathogenic/Likely pathogenic PRPH2-related disorder, PRPH2-related disorder
RS61755800 PRPH2 Health Risk Pathogenic Retinitis pigmentosa, PRPH2-related disorder
RS61755801 PRPH2 Health Risk Likely pathogenic Patterned macular dystrophy 1, Retinal dystrophy
RS61755802 PRPH2 Health Risk Pathogenic Leber congenital amaurosis 18, Patterned macular dystrophy 1
RS61755803 PRPH2 Health Risk Likely pathogenic PRPH2-related disorder, Retinal dystrophy
RS61755804 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS61755805 PRPH2 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, PRPH2-related disorder
RS61755806 PRPH2 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 7, Retinal dystrophy
RS61755807 PRPH2 Health Risk Likely pathogenic Retinitis pigmentosa 7, Retinitis pigmentosa 7
RS61755808 PRPH2 Health Risk Conflicting classifications of pathogenicity PRPH2-related disorder, Retinal dystrophy
RS61755809 PRPH2 Health Risk Conflicting classifications of pathogenicity Macular dystrophy, Retinal dystrophy
RS61755810 PRPH2 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS61755811 PRPH2 Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS61755812 PRPH2 Health Risk Pathogenic —
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