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
RS121918661 TERT Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS121918662 TERT Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS121918665 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS121918666 TERT Health Risk Pathogenic/Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS121918668 TSHB Health Risk Pathogenic/Likely pathogenic Isolated thyroid-stimulating hormone deficiency, Isolated thyroid-stimulating hormone deficiency
RS121918669 TSHB Health Risk Pathogenic Isolated thyroid-stimulating hormone deficiency, Isolated thyroid-stimulating hormone deficiency
RS121918670 TSHB Health Risk Pathogenic/Likely pathogenic Isolated thyroid-stimulating hormone deficiency, TSHB-related disorder
RS121918671 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS121918672 HNF1B Health Risk Pathogenic/Likely pathogenic Renal cysts and diabetes syndrome, Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
RS121918673 HNF1B Health Risk Conflicting classifications of pathogenicity Type 2 diabetes mellitus, Renal cysts and diabetes syndrome
RS121918674 HNF1B Health Risk Pathogenic/Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS121918675 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS121918676 TF Health Risk Pathogenic Transferrin variant D1, Transferrin variant D1
RS121918678 TF Health Risk Pathogenic Transferrin variant Bv, Transferrin variant Bv
RS121918679 TF Health Risk Pathogenic Atransferrinemia, Atransferrinemia
RS121918681 TF Health Risk Pathogenic Atransferrinemia, Atransferrinemia
RS121918683 MYC Health Risk Pathogenic Burkitt lymphoma, Burkitt lymphoma
RS121918684 MYC Health Risk Pathogenic Burkitt lymphoma, Burkitt lymphoma
RS121918686 THRB Health Risk Likely pathogenic Thyroid hormone resistance, generalized
RS121918687 THRB Health Risk Likely pathogenic Thyroid hormone resistance, generalized
RS121918688 THRB Health Risk Pathogenic Thyroid hormone resistance, generalized
RS121918690 THRB Health Risk Likely pathogenic Thyroid hormone resistance, generalized
RS121918691 THRB Health Risk Likely pathogenic Thyroid hormone resistance, generalized
RS121918692 THRB Health Risk Pathogenic Thyroid hormone resistance, generalized
RS121918693 THRB Health Risk Pathogenic Thyroid hormone resistance, generalized
RS121918694 THRB Health Risk Pathogenic Thyroid hormone resistance, generalized
RS121918695 THRB Health Risk Pathogenic Selective pituitary resistance to thyroid hormone, Thyroid hormone resistance
RS121918696 THRB Health Risk Pathogenic Thyroid hormone resistance, generalized
RS121918697 THRB Health Risk Pathogenic Thyroid hormone resistance, generalized
RS121918698 THRB Health Risk Pathogenic Thyroid hormone resistance, generalized
RS121918700 THRB Health Risk Pathogenic Generalized resistance to thyroid hormone, Generalized resistance to thyroid hormone
RS121918701 THRB Health Risk Pathogenic Generalized resistance to thyroid hormone, Generalized resistance to thyroid hormone
RS121918702 THRB Health Risk Pathogenic Generalized resistance to thyroid hormone, Generalized resistance to thyroid hormone
RS121918703 THRB Health Risk Pathogenic Thyroid hormone resistance, generalized
RS121918704 THRB Health Risk Likely pathogenic Thyroid hormone resistance, generalized
RS121918705 THRB Health Risk Pathogenic Thyroid hormone resistance, generalized
RS121918706 THRB Health Risk Pathogenic Thyroid hormone resistance, generalized
RS121918707 THRB Health Risk Pathogenic Thyroid hormone resistance, generalized
RS121918708 THRB Health Risk Pathogenic/Likely pathogenic Thyroid hormone resistance, generalized
RS121918709 THRB Health Risk Pathogenic Selective pituitary resistance to thyroid hormone, Selective pituitary resistance to thyroid hormone
RS121918710 TGFBR1 Health Risk Pathogenic Loeys-Dietz syndrome 1, Loeys-Dietz syndrome 1
RS121918711 TGFBR1 Health Risk Pathogenic Loeys-Dietz syndrome 1, Loeys-Dietz syndrome 1
RS121918712 TGFBR1 Health Risk Pathogenic Loeys-Dietz syndrome 1, Loeys-Dietz syndrome 1
RS121918714 TGFBR2 Health Risk Likely pathogenic Malignant tumor of esophagus, Familial thoracic aortic aneurysm and aortic dissection
RS121918715 TGFBR2 Health Risk Pathogenic Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS121918716 TGM1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 1, Lamellar ichthyosis
RS121918717 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Lamellar ichthyosis
RS121918718 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Abnormality of the skin
RS121918719 TGM1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 1, Abnormality of the skin
RS121918720 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Lamellar ichthyosis
RS121918721 TGM1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS121918722 TGM1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 1, Lamellar ichthyosis
RS121918723 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Abnormality of the skin
RS121918724 TGM1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 1, Lamellar ichthyosis
RS121918725 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Lamellar ichthyosis
RS121918726 TGM1 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS121918727 TGM1 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 1, TGM1-related disorder
RS121918728 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS121918729 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS121918730 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS121918731 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Lamellar ichthyosis
RS121918732 TGM1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 1, Congenital ichthyosiform erythroderma
RS121918733 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121918734 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus
RS121918735 SCN1A Health Risk Conflicting classifications of pathogenicity Severe myoclonic epilepsy in infancy, Seizure
RS121918736 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Seizure
RS121918737 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Migraine
RS121918738 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Inborn genetic diseases
RS121918739 SCN1A Health Risk Conflicting classifications of pathogenicity Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS121918740 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121918741 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121918742 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121918744 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 1
RS121918745 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121918746 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS121918748 SCN1A Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 2
RS121918750 SCN1A Health Risk Conflicting classifications of pathogenicity Severe myoclonic epilepsy in infancy, Developmental and epileptic encephalopathy
RS121918751 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Seizure
RS121918753 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Inborn genetic diseases
RS121918754 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121918756 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Generalized epilepsy with febrile seizures plus
RS121918757 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS121918763 SCN1A Health Risk Conflicting classifications of pathogenicity Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121918764 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121918765 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS121918767 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121918768 SCN1A Health Risk Conflicting classifications of pathogenicity Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121918770 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121918771 SCN1A Health Risk Conflicting classifications of pathogenicity Severe myoclonic epilepsy in infancy, Migraine
RS121918773 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121918774 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS121918775 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus
RS121918776 SCN1A Health Risk Likely pathogenic Seizure, Seizure
RS121918777 SCN1A Health Risk Conflicting classifications of pathogenicity Severe myoclonic epilepsy in infancy, SCN1A-related disorder
RS121918778 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121918779 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121918780 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Developmental and epileptic encephalopathy 6B
RS121918781 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 1
RS121918782 SCN1A Health Risk Pathogenic/Likely pathogenic Generalized epilepsy with febrile seizures plus, type 1
RS121918783 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 1
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