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
RS61749426 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS61749427 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61749428 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61749429 ABCA4 Health Risk Pathogenic Stargardt disease, ABCA4-related disorder
RS61749432 ABCA4 Health Risk Likely pathogenic —
RS61749433 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61749435 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61749436 ABCA4 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS61749437 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61749438 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS61749439 ABCA4 Health Risk Pathogenic Age related macular degeneration 2, Age related macular degeneration 2
RS61749440 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, Age related macular degeneration 2
RS61749441 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61749444 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS61749446 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Stargardt disease
RS61749448 ABCA4 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS61749449 ABCA4 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS61749450 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3
RS61749451 ABCA4 Health Risk Likely pathogenic Retinal dystrophy, Retinitis pigmentosa
RS61749452 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS61749453 ABCA4 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS61749454 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61749455 ABCA4 Health Risk Pathogenic Macular dystrophy, Retinal dystrophy
RS61749456 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS61749457 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 19, Severe early-childhood-onset retinal dystrophy
RS61749459 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Stargardt disease
RS61749465 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS61749475 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, FANCM-related disorder
RS61749487 DNAH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS61749630 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS61749633 SAR1B Health Risk Pathogenic/Likely pathogenic Chylomicron retention disease, Chylomicron retention disease
RS61749643 GEMIN5 Health Risk Conflicting classifications of pathogenicity —
RS61749654 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS61749660 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS61749663 GUCY2D Health Risk Pathogenic Leber congenital amaurosis 1, Cone-rod dystrophy 6
RS61749668 GUCY2D Health Risk Likely pathogenic Cone dystrophy, Cone-rod dystrophy 6
RS61749669 GUCY2D Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS61749670 GUCY2D Health Risk Pathogenic Leber congenital amaurosis 1, Cone-rod dystrophy 6
RS61749671 GUCY2D Health Risk Pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS61749673 GUCY2D Health Risk Likely pathogenic Leber congenital amaurosis 1, Cone-rod dystrophy 6
RS61749674 GUCY2D Health Risk Likely pathogenic Leber congenital amaurosis 1, Cone-rod dystrophy 6
RS61749676 GUCY2D Health Risk Likely pathogenic Leber congenital amaurosis 1, Cone-rod dystrophy 6
RS61749679 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS61749682 GUCY2D Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS61749683 GUCY2D Health Risk Pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS61749700 CDKL5 Health Risk Likely pathogenic Atypical Rett syndrome, Developmental and epileptic encephalopathy
RS61749702 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS61749703 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS61749704 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS61749707 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS61749708 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS61749709 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS61749715 MECP2 Health Risk Pathogenic X-linked intellectual disability-psychosis-macroorchidism syndrome, Rett syndrome
RS61749717 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS61749718 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS61749721 MECP2 Health Risk Likely pathogenic Rett syndrome, X-linked intellectual disability-psychosis-macroorchidism syndrome
RS61749723 MECP2 Health Risk Pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS61749724 MECP2 Health Risk Pathogenic Rett syndrome, Inborn genetic diseases
RS61749726 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS61749727 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS61749728 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS61749729 MECP2 Health Risk Pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS61749734 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS61749736 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS61749737 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS61749739 MECP2 Health Risk Pathogenic/Likely pathogenic Rett syndrome, Rett syndrome
RS61749741 MECP2 Health Risk Pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS61749743 MECP2 Health Risk Pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS61749744 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS61749747 MECP2 Health Risk Pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS61749749 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS61749750 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS61749751 MECP2 Health Risk Pathogenic/Likely pathogenic Rett syndrome, Rett syndrome
RS61749752 MECP2 Health Risk Pathogenic/Likely pathogenic Rett syndrome, Rett syndrome
RS61749755 GUCY2D Health Risk Pathogenic Leber congenital amaurosis 1, GUCY2D-related recessive retinopathy
RS61749758 GUCY2D Health Risk Likely pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS61749759 GUCY2D Health Risk Pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS61749895 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Thyroid cancer
RS61749896 BIVM-ERCC5;ERCC5 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group G
RS61749951 DLD Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Pyruvate dehydrogenase E3 deficiency
RS61749952 DLD Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Pyruvate dehydrogenase complex deficiency
RS61750003 VAV1 Health Risk Conflicting classifications of pathogenicity —
RS61750060 ABCA4 Health Risk Pathogenic —
RS61750061 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Stargardt disease
RS61750062 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 19
RS61750064 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS61750065 ABCA4 Health Risk Pathogenic ABCA4-related disorder, Cone-rod dystrophy
RS61750069 VWF Health Risk Likely pathogenic Hereditary von Willebrand disease, von Willebrand disease type 1
RS61750070 VWF Health Risk Conflicting classifications of pathogenicity Hereditary von Willebrand disease, von Willebrand disease type 2
RS61750071 VWF Health Risk Pathogenic Hereditary von Willebrand disease, von Willebrand disease type 2
RS61750072 VWF Health Risk Pathogenic/Likely pathogenic Prolonged bleeding time, Abnormal bleeding
RS61750077 VWF Health Risk Pathogenic Hereditary von Willebrand disease, von Willebrand disease type 2
RS61750078 VWF Health Risk Pathogenic von Willebrand disease type 2M, von Willebrand disease type 2
RS61750080 VWF Health Risk Likely pathogenic von Willebrand disease type 2M, von Willebrand disease type 2M
RS61750081 VWF Health Risk Pathogenic/Likely pathogenic Hereditary von Willebrand disease, von Willebrand disease type 2
RS61750082 VWF Health Risk Likely pathogenic von Willebrand disease type 2, von Willebrand disease type 2
RS61750083 VWF Health Risk Likely pathogenic Hereditary von Willebrand disease, von Willebrand disease type 1
RS61750084 VWF Health Risk Pathogenic/Likely pathogenic von Willebrand disease type 2, von Willebrand disease type 1
RS61750088 VWF Health Risk Likely pathogenic —
RS61750089 VWF Health Risk Pathogenic —
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