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
RS61750090 VWF Health Risk Conflicting classifications of pathogenicity von Willebrand disease type 2, von Willebrand disease type 2
RS61750094 VWF Health Risk Pathogenic —
RS61750095 VWF Health Risk Pathogenic Abnormality of coagulation, Abnormality of coagulation
RS61750097 VWF Health Risk Likely pathogenic —
RS61750100 VWF Health Risk Pathogenic/Likely pathogenic Hereditary von Willebrand disease, von Willebrand disease type 2
RS61750101 VWF Health Risk Likely pathogenic Von Willebrand disease type 2A, Von Willebrand disease type 2A
RS61750103 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS61750110 VWF Health Risk Likely pathogenic von Willebrand disease type 2, von Willebrand disease type 2
RS61750111 VWF Health Risk Likely pathogenic —
RS61750112 VWF Health Risk Pathogenic von Willebrand disorder, von Willebrand disorder
RS61750117 VWF Health Risk Pathogenic Von Willebrand disease type 2A, Inborn genetic diseases
RS61750118 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS61750119 ABCA4 Health Risk Pathogenic —
RS61750120 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Stargardt disease
RS61750121 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS61750122 ABCA4 Health Risk Pathogenic —
RS61750124 ABCA4 Health Risk Pathogenic —
RS61750125 ABCA4 Health Risk Pathogenic —
RS61750128 ABCA4 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS61750130 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, MACULAR DEGENERATION
RS61750131 ABCA4 Health Risk Pathogenic —
RS61750132 ABCA4 Health Risk Pathogenic Retinal dystrophy, Cone-rod dystrophy 3
RS61750133 ABCA4 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS61750134 ABCA4 Health Risk Pathogenic —
RS61750135 ABCA4 Health Risk Pathogenic/Likely pathogenic; other Retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS61750137 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61750138 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61750139 ABCA4 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS61750140 ABCA4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive retinitis pigmentosa, Retinal dystrophy
RS61750141 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS61750142 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, ABCA4-related disorder
RS61750144 ABCA4 Health Risk Pathogenic —
RS61750145 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61750146 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3
RS61750147 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61750148 ABCA4 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS61750149 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Inborn genetic diseases
RS61750152 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa 19
RS61750153 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, ABCA4-related disorder
RS61750154 ABCA4 Health Risk Pathogenic —
RS61750155 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61750156 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS61750158 ABCA4 Health Risk Likely pathogenic Cone-rod dystrophy 3, Cone-rod dystrophy 3
RS61750159 ABCA4 Health Risk Pathogenic —
RS61750161 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS61750164 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS61750168 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS61750171 GUCY2D Health Risk Likely pathogenic Leber congenital amaurosis 1, Cone-rod dystrophy 6
RS61750172 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Cone dystrophy
RS61750173 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Retinal dystrophy
RS61750179 GUCY2D Health Risk Likely pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS61750182 GUCY2D Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Cone-rod dystrophy 6
RS61750183 GUCY2D Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Leber congenital amaurosis 1
RS61750184 GUCY2D Health Risk Likely pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS61750185 GUCY2D Health Risk Pathogenic Leber congenital amaurosis 1, Cone-rod dystrophy 6
RS61750187 GUCY2D Health Risk Likely pathogenic Leber congenital amaurosis 1, GUCY2D-related recessive retinopathy
RS61750188 GUCY2D Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 1, Retinal dystrophy
RS61750189 GUCY2D Health Risk Likely pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS61750194 GUCY2D Health Risk Pathogenic Leber congenital amaurosis 1, Cone-rod dystrophy 6
RS61750200 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3
RS61750202 ABCA4 Health Risk Pathogenic Stargardt disease, Retinal dystrophy
RS61750225 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS61750232 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS61750235 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS61750238 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS61750240 MECP2 Health Risk Pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS61750241 MECP2 Health Risk Pathogenic X-linked intellectual disability-psychosis-macroorchidism syndrome, Rett syndrome
RS61750242 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS61750247 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS61750249 MECP2 Health Risk Likely pathogenic Rett syndrome, X-linked intellectual disability-psychosis-macroorchidism syndrome
RS61750250 CDKL5 Health Risk Pathogenic Atypical Rett syndrome, CDKL5 disorder
RS61750256 MECP2 Health Risk Pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS61750259 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS61750320 CUL7 Health Risk Conflicting classifications of pathogenicity 3M syndrome 1, CUL7-related disorder
RS61750322 CUL7 Health Risk Conflicting classifications of pathogenicity 3M syndrome 1, 3M syndrome 1
RS61750324 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia
RS61750388 SRD5A2 Health Risk Conflicting classifications of pathogenicity 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS61750397 SRD5A2 Health Risk Pathogenic/Likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS61750404 PEX1 Health Risk Pathogenic Peroxisome biogenesis disorder, Zellweger spectrum disorders
RS61750406 PEX1 Health Risk Pathogenic Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)
RS61750407 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS61750409 PEX1 Health Risk Pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder
RS61750412 PEX1 Health Risk Pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B
RS61750414 PEX1 Health Risk Pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder
RS61750415 PEX1 Health Risk Pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1
RS61750417 PEX1 Health Risk Pathogenic Peroxisome biogenesis disorder, Zellweger spectrum disorders
RS61750418 PEX1 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B
RS61750419 PEX1 Health Risk Likely pathogenic Heimler syndrome 1, Heimler syndrome 1
RS61750420 PEX1 Health Risk Pathogenic Peroxisome biogenesis disorder, Leber congenital amaurosis
RS61750422 PEX1 Health Risk Pathogenic Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)
RS61750423 PEX1 Health Risk Pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder
RS61750425 PEX1 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS61750426 PEX1 Health Risk Pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder
RS61750427 PEX1 Health Risk Pathogenic/Likely pathogenic Heimler syndrome 1, Peroxisome biogenesis disorder 1A (Zellweger)
RS61750428 PEX1 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 1A (Zellweger)
RS61750430 PEX1 Health Risk Pathogenic Peroxisome biogenesis disorder, Zellweger spectrum disorders
RS61750432 PEX10 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder
RS61750434 PEX10 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 6B, Peroxisome biogenesis disorder 6A (Zellweger)
RS61750435 PEX10 Health Risk Pathogenic Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6B
RS61750440 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
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