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
RS398123529 GBA1 Health Risk Pathogenic —
RS398123530 GBA1 Health Risk Pathogenic Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I
RS398123531 GBA1 Health Risk Conflicting classifications of pathogenicity —
RS398123532 GBA1 Health Risk Pathogenic/Likely pathogenic Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I
RS398123538 IQCB1 Health Risk Pathogenic Senior-Loken syndrome 5, Retinitis pigmentosa
RS398123540 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS398123546 G6PD Health Risk Pathogenic Anemia, nonspherocytic hemolytic
RS398123547 G6PD Health Risk Conflicting classifications of pathogenicity Anemia, nonspherocytic hemolytic
RS398123552 G6PD Health Risk Conflicting classifications of pathogenicity Anemia, nonspherocytic hemolytic
RS398123555 FKTN Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS398123557 FKTN Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS398123558 FKTN Health Risk Conflicting classifications of pathogenicity —
RS398123559 WDR62 Health Risk Conflicting classifications of pathogenicity —
RS398123560 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS398123561 TCF4 Health Risk Pathogenic Intellectual disability, Pitt-Hopkins syndrome
RS398123562 ACTA1 Health Risk Pathogenic/Likely pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS398123563 ACTA1 Health Risk Likely pathogenic Actin accumulation myopathy, Alpha-actinopathy
RS398123567 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS398123568 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS398123569 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS398123570 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS398123572 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS398123573 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS398123574 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 25
RS398123575 EYS Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa
RS398123576 EYS Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 25
RS398123577 NDE1 Health Risk Pathogenic —
RS398123578 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS398123579 SCN1A Health Risk Pathogenic —
RS398123580 SCN1A Health Risk Pathogenic —
RS398123581 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS398123584 SCN1A Health Risk Likely pathogenic —
RS398123585 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Migraine
RS398123588 SCN1A Health Risk Pathogenic Autosomal dominant epilepsy, Seizure
RS398123589 SCN1A Health Risk Likely pathogenic —
RS398123590 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS398123591 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS398123592 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS398123593 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Inborn genetic diseases
RS398123594 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS398123595 SCN1A Health Risk Pathogenic Seizure, Seizure
RS398123596 SCN1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS398123597 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS398123598 SCN1A Health Risk Likely pathogenic —
RS398123599 SCN1A Health Risk Pathogenic —
RS398123600 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS398123603 PCDH19 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 9
RS398123606 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS398123607 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS398123613 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS398123614 FLNA Health Risk Pathogenic/Likely pathogenic Oto-palato-digital syndrome, type II
RS398123615 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS398123616 FLNA Health Risk Pathogenic —
RS398123617 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS398123618 FLNA Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Familial thoracic aortic aneurysm and aortic dissection
RS398123619 FLNA Health Risk Pathogenic —
RS398123620 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS398123621 FLNA Health Risk Pathogenic —
RS398123623 FLNA Health Risk Pathogenic —
RS398123624 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS398123626 CDH3 Health Risk Conflicting classifications of pathogenicity —
RS398123627 CLCN4 Health Risk Conflicting classifications of pathogenicity —
RS398123628 COL2A1 Health Risk Pathogenic —
RS398123630 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS398123631 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Sensorimotor neuropathy
RS398123632 COL6A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A
RS398123633 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS398123634 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS398123635 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS398123636 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS398123637 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS398123638 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS398123639 COL6A1 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS398123640 COL6A1 Health Risk Pathogenic Limb-girdle muscle weakness, EMG abnormality
RS398123641 COL6A1 Health Risk Conflicting classifications of pathogenicity —
RS398123643 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Collagen 6-related myopathy
RS398123644 COL6A1 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS398123645 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS398123646 COL6A2 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS398123649 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS398123650 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS398123652 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS398123653 CPT1A Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyl transferase 1A deficiency, CPT1A-related disorder
RS398123654 CPT1A Health Risk Pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS398123658 DBT Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease
RS398123660 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 2
RS398123662 DBT Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease
RS398123663 DBT Health Risk Likely pathogenic —
RS398123664 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS398123665 DBT Health Risk Pathogenic —
RS398123666 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS398123667 DBT Health Risk Pathogenic —
RS398123668 DBT Health Risk Likely pathogenic Maple syrup urine disease type 2, Maple syrup urine disease type 1A
RS398123669 DBT Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 2
RS398123672 DBT Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease
RS398123674 DBT Health Risk Pathogenic Maple syrup urine disease type 2, Maple syrup urine disease type 2
RS398123675 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS398123676 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 2
RS398123679 IVD Health Risk Conflicting classifications of pathogenicity Isovaleryl-CoA dehydrogenase deficiency, IVD-related disorder
RS398123680 IVD Health Risk Conflicting classifications of pathogenicity Isovaleryl-CoA dehydrogenase deficiency, IVD-related disorder
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