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
RS62646862 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Stargardt disease
RS62646863 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Abnormal retinal morphology
RS62646864 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS62646865 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS62646872 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS62646883 RPE65 Health Risk Likely pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS62650215 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS62650216 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Retinal disorder
RS62650218 RPGR Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS62651568 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62651994 KRT10 Health Risk Pathogenic Ichthyosis, annular epidermolytic 1
RS62653011 RPE65 Health Risk Pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS62653012 RPE65 Health Risk Likely pathogenic RPE65-related recessive retinopathy, RPE65-related recessive retinopathy
RS62653015 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS62653020 AIPL1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 4, Retinal dystrophy
RS62653029 RPGR Health Risk Pathogenic Retinal dystrophy, Primary ciliary dyskinesia
RS62653030 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS62653602 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 4A (Zellweger)
RS62653604 PEX7 Health Risk Pathogenic Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
RS62653606 PEX7 Health Risk Pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS62653608 PEX7 Health Risk Likely pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS62653611 PEX7 Health Risk Pathogenic/Likely pathogenic Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
RS62653623 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS62654391 CRX Health Risk Pathogenic maculopathy, Leber congenital amaurosis 7
RS62654395 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS62654397 ABCA4 Health Risk Pathogenic ABCA4-related disorder, Retinal dystrophy
RS62654864 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS62701461 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS62707562 MECP2 Health Risk Conflicting classifications of pathogenicity Severe neonatal-onset encephalopathy with microcephaly, Rett syndrome
RS62895363 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62931162 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Rett syndrome
RS62952161 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS63009262 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS63048261 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS63083560 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS63094662 MECP2 Health Risk Pathogenic X-linked intellectual disability-psychosis-macroorchidism syndrome, Rett syndrome
RS63102461 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS63159160 TYR Health Risk Pathogenic Oculocutaneous albinism type 1A, Nonsyndromic Oculocutaneous Albinism
RS63186960 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS63259763 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS63260260 MECP2 Health Risk Pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS63340060 GUCY2D Health Risk Likely pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS63535662 PEX7 Health Risk Pathogenic Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
RS63545361 PEX2 Health Risk Pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Zellweger spectrum disorders
RS63581460 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS63583161 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS63748989 CYP11B2 Health Risk Pathogenic/Likely pathogenic Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency
RS63749004 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B
RS63749008 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS63749009 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS63749010 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS63749012 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS63749018 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS63749023 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS63749024 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS63749029 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS63749030 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS63749038 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS63749055 ABCA4 Health Risk Pathogenic Retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS63749058 ABCA4 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS63749059 RPE65 Health Risk Pathogenic RPE65-related recessive retinopathy, RPE65-related recessive retinopathy
RS63749064 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS63749065 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS63749066 VWF Health Risk Likely pathogenic —
RS63749067 VWF Health Risk Likely pathogenic Hereditary von Willebrand disease, Hereditary von Willebrand disease
RS63749073 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS63749076 GUCY2D Health Risk Likely pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS63749078 GUCY2D Health Risk Pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS63749083 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS63749126 GPR143 Health Risk Pathogenic —
RS63749676 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS63749677 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS63749748 MECP2 Health Risk Pathogenic Angelman syndrome, Rett syndrome
RS63749792 MLH1 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63749794 ABCC6 Health Risk Pathogenic/Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification
RS63749795 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63749796 ABCC6 Health Risk Pathogenic/Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS63749800 ABCC6 Health Risk Likely pathogenic —
RS63749801 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Frontotemporal dementia
RS63749802 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63749804 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63749805 PSEN1 Health Risk Pathogenic/Likely pathogenic Alzheimer disease 3, Pick disease
RS63749806 PSEN1 Health Risk Pathogenic Pick disease, Frontotemporal dementia
RS63749807 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS63749810 APP Health Risk Pathogenic ABeta amyloidosis, Iowa type
RS63749811 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome
RS63749813 MLH1 Health Risk Pathogenic Lynch syndrome, Colorectal cancer
RS63749814 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63749816 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63749817 GRN Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS63749818 MLH1 Health Risk Pathogenic Lynch syndrome, Colorectal cancer
RS63749819 HBB Health Risk Pathogenic Beta zero thalassemia, beta Thalassemia
RS63749820 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63749821 MSH6 Health Risk Pathogenic/Likely pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63749823 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS63749824 PSEN1 Health Risk Pathogenic Alzheimer disease 3, Pick disease
RS63749827 MLH1 Health Risk Pathogenic Lynch syndrome, Colorectal cancer
RS63749828 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS63749829 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63749830 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
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