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
RS281865497 TK2 Health Risk Pathogenic/Likely pathogenic Mitochondrial disease, Mitochondrial disease
RS281865498 TK2 Health Risk Likely pathogenic Mitochondrial disease, Mitochondrial disease
RS281865499 TK2 Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome, Mitochondrial disease
RS281865500 TK2 Health Risk Pathogenic Mitochondrial DNA depletion syndrome, myopathic form
RS281865501 TK2 Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome, myopathic form
RS281865502 TK2 Health Risk Pathogenic Mitochondrial DNA depletion syndrome, myopathic form
RS281865503 TK2 Health Risk Pathogenic Mitochondrial disease, Mitochondrial disease
RS281865504 TK2 Health Risk Pathogenic Mitochondrial disease, Mitochondrial disease
RS281865505 TK2 Health Risk Pathogenic Mitochondrial disease, Mitochondrial disease
RS281865506 TK2 Health Risk Pathogenic Mitochondrial disease, Mitochondrial disease
RS281865507 TK2 Health Risk Pathogenic Mitochondrial DNA depletion syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS281865514 ABCA4 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS281865515 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Leber congenital amaurosis 7
RS281865516 CRX Health Risk Pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS281865517 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Leber congenital amaurosis 7
RS281865520 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS281865522 TYR Health Risk Pathogenic Oculocutaneous albinism type 1A, SKIN/HAIR/EYE PIGMENTATION 3
RS281865524 TYR Health Risk Pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS281865526 TYR Health Risk Pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS281865527 TYR Health Risk Pathogenic Oculocutaneous albinism type 1A, Inborn genetic diseases
RS281865528 BEST1 Health Risk Pathogenic Vitelliform macular dystrophy 2, Retinal dystrophy
RS281865529 BEST1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS281865530 BEST1 Health Risk Pathogenic —
RS281865531 BEST1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS281865532 BEST1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS281865547 WRAP53 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 3
RS281865548 WRAP53 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 3
RS281865549 WRAP53 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 3
RS281865550 WRAP53 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 3
RS281865552 OTC Health Risk Pathogenic/Likely pathogenic Ornithine carbamoyltransferase deficiency, Thyroid cancer
RS281865554 OTC Health Risk Likely pathogenic Nonpapillary renal cell carcinoma, Ornithine carbamoyltransferase deficiency
RS281865555 HBA2 Health Risk Conflicting classifications of pathogenicity HEMOGLOBIN I (BURLINGTON), HEMOGLOBIN I (PHILADELPHIA)
RS281865557 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS281865560 HBA1 Health Risk Conflicting classifications of pathogenicity —
RS281865564 PRICKLE1 Health Risk Pathogenic Epilepsy, progressive myoclonic
RS281874656 COL4A5 Health Risk Pathogenic —
RS281874658 COL4A5 Health Risk Pathogenic —
RS281874659 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS281874663 COL4A5 Health Risk Pathogenic —
RS281874664 COL4A5 Health Risk Pathogenic —
RS281874667 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS281874668 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS281874669 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS281874670 COL4A5 Health Risk Pathogenic Alport syndrome, X-linked Alport syndrome
RS281874671 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS281874673 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, Alport syndrome
RS281874674 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS281874675 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS281874676 COL4A5 Health Risk Pathogenic —
RS281874680 COL4A5 Health Risk Pathogenic —
RS281874681 COL4A5 Health Risk Likely pathogenic —
RS281874683 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS281874684 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS281874688 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, Nonpapillary renal cell carcinoma
RS281874689 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS281874692 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS281874696 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS281874697 COL4A5 Health Risk Pathogenic COL4A5-related disorder, X-linked Alport syndrome
RS281874699 COL4A5 Health Risk Pathogenic —
RS281874702 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS281874703 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS281874706 COL4A5 Health Risk Pathogenic —
RS281874709 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, X-linked Alport syndrome
RS281874712 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS281874713 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, COL4A5-related disorder
RS281874715 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS281874717 COL4A5 Health Risk Pathogenic —
RS281874721 COL4A5 Health Risk Pathogenic Nephrotic syndrome, Nephrotic syndrome
RS281874722 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS281874723 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS281874724 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS281874725 COL4A5 Health Risk Likely pathogenic —
RS281874727 COL4A5 Health Risk Pathogenic —
RS281874734 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, Thyroid cancer
RS281874735 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS281874738 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS281874739 COL4A5 Health Risk Likely pathogenic —
RS281874741 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS281874743 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, Hearing impairment
RS281874747 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, Alport syndrome
RS281874750 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS281874753 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, Alport syndrome
RS281874755 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS281874759 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS281874760 COL4A5 Health Risk Pathogenic —
RS281874761 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS281874763 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, Alport syndrome
RS281874765 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS281874768 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS281874770 STAT2 Health Risk Pathogenic Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
RS281875168 SERPING1 Health Risk Likely pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS281875170 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Malignant tumor of urinary bladder
RS281875171 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS281875174 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema with C1Inh deficiency
RS281875178 SERPING1 Health Risk Conflicting classifications of pathogenicity Hereditary angioedema type 1, Hereditary angioedema type 1
RS281875184 SMARCA2 Health Risk Pathogenic Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome
RS281875185 SMARCA2 Health Risk Pathogenic Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome
RS281875186 SMARCA2 Health Risk Pathogenic/Likely pathogenic Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome
RS281875187 SMARCA2 Health Risk Pathogenic Nicolaides-Baraitser syndrome, SMARCA2-related BAFopathy
RS281875188 SMARCA2 Health Risk Likely pathogenic Nicolaides-Baraitser syndrome, SMARCA2-related BAFopathy
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