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
RS587776724 PIGA Health Risk Pathogenic Paroxysmal nocturnal hemoglobinuria, Paroxysmal nocturnal hemoglobinuria
RS587776725 PIGA Health Risk Pathogenic Paroxysmal nocturnal hemoglobinuria, Paroxysmal nocturnal hemoglobinuria
RS587776726 PIGA Health Risk Pathogenic Paroxysmal nocturnal hemoglobinuria, Paroxysmal nocturnal hemoglobinuria
RS587776727 PIGA Health Risk Pathogenic Paroxysmal nocturnal hemoglobinuria, Paroxysmal nocturnal hemoglobinuria
RS587776728 PIGA Health Risk Pathogenic Paroxysmal nocturnal hemoglobinuria, Paroxysmal nocturnal hemoglobinuria
RS587776729 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS587776730 G6PD Health Risk Pathogenic/Likely pathogenic Anemia, nonspherocytic hemolytic
RS587776731 PHKA2 Health Risk Likely pathogenic Glycogen storage disease IXa1, Thyroid cancer
RS587776732 PHKA2 Health Risk Pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS587776733 PHKA2 Health Risk Pathogenic Glycogen storage disease IXa2, Glycogen storage disease IXa2
RS587776734 RAB39B Health Risk Pathogenic Intellectual disability, X-linked 72
RS587776735 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS587776736 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS587776737 PORCN Health Risk Pathogenic Focal dermal hypoplasia, Focal dermal hypoplasia
RS587776738 AP1S2 Health Risk Pathogenic Pettigrew syndrome, Pettigrew syndrome
RS587776739 AP1S2 Health Risk Likely pathogenic Pettigrew syndrome, Pettigrew syndrome
RS587776740 GK Health Risk Pathogenic Inborn glycerol kinase deficiency, Inborn glycerol kinase deficiency
RS587776741 TAFAZZIN Health Risk Pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS587776742 WAS Health Risk Pathogenic Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome
RS587776743 WAS Health Risk Pathogenic Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome
RS587776744 WAS Health Risk Pathogenic Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome
RS587776745 WAS Health Risk Pathogenic Wiskott-Aldrich syndrome, X-linked severe congenital neutropenia
RS587776746 CHM Health Risk Pathogenic Choroideremia, Retinal dystrophy
RS587776747 DMD Health Risk Pathogenic/Likely pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS587776748 TRAPPC2 Health Risk Pathogenic Spondyloepiphyseal dysplasia tarda, Spondyloepiphyseal dysplasia tarda
RS587776749 TRAPPC2 Health Risk Pathogenic Spondyloepiphyseal dysplasia tarda, Spondyloepiphyseal dysplasia tarda
RS587776750 TRAPPC2 Health Risk Pathogenic Spondyloepiphyseal dysplasia tarda, Spondyloepiphyseal dysplasia tarda
RS587776751 TRAPPC2 Health Risk Pathogenic Spondyloepiphyseal dysplasia tarda, Hereditary spastic paraplegia 4
RS587776752 TRAPPC2 Health Risk Pathogenic Spondyloepiphyseal dysplasia tarda, X-linked
RS587776753 TRAPPC2 Health Risk Pathogenic Spondyloepiphyseal dysplasia tarda, Spondyloepiphyseal dysplasia tarda
RS587776754 TRAPPC2 Health Risk Pathogenic Spondyloepiphyseal dysplasia tarda, Spondyloepiphyseal dysplasia tarda
RS587776755 RPS6KA3 Health Risk Pathogenic Coffin-Lowry syndrome, Coffin-Lowry syndrome
RS587776756 ATRX Health Risk Pathogenic Acquired hemoglobin H disease, Acquired hemoglobin H disease
RS587776757 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS587776758 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS587776759 SLC25A20 Health Risk Pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS587776760 SLC25A20 Health Risk Pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS587776761 UGT1A1 Health Risk Pathogenic Crigler-Najjar syndrome type 1, Crigler-Najjar syndrome type 1
RS587776762 UGT1A1 Health Risk Pathogenic/Likely pathogenic Crigler-Najjar syndrome type 1, Crigler-Najjar syndrome
RS587776763 UGT1A1 Health Risk Pathogenic Crigler-Najjar syndrome type 1, Crigler-Najjar syndrome type 1
RS587776764 UGT1A1 Health Risk Pathogenic/Likely pathogenic Crigler-Najjar syndrome type 1, Crigler-Najjar syndrome
RS587776765 UGT1A1 Health Risk Likely pathogenic Crigler-Najjar syndrome type 1, Crigler-Najjar syndrome
RS587776766 UGT1A1 Health Risk Pathogenic Crigler-Najjar syndrome type 1, Crigler-Najjar syndrome type 1
RS587776767 TH Health Risk Pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS587776768 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS587776769 TGFBR2 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS587776770 TGFBR2 Health Risk Likely pathogenic Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS587776771 HNF1B Health Risk Pathogenic Chromophobe renal cell carcinoma, Renal cysts and diabetes syndrome
RS587776772 TTN Health Risk Pathogenic Early-onset myopathy with fatal cardiomyopathy, Early-onset myopathy with fatal cardiomyopathy
RS587776773 PRKAR1A Health Risk Conflicting classifications of pathogenicity Pigmented nodular adrenocortical disease, primary
RS587776774 PRKAR1A Health Risk Pathogenic Adrenocortical tumor, somatic
RS587776776 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS587776777 SPR Health Risk Pathogenic Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dopa-responsive dystonia due to sepiapterin reductase deficiency
RS587776778 SAG Health Risk Pathogenic Oguchi disease, Retinitis pigmentosa 47
RS587776779 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS587776780 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS587776781 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS587776782 RB1 Health Risk Pathogenic/Likely pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS587776783 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS587776784 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS587776785 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS587776786 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS587776787 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS587776788 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS587776789 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS587776790 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS587776791 RB1 Health Risk Pathogenic/Likely pathogenic Retinoblastoma, Retinoblastoma
RS587776793 PDGFRA Health Risk Pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS587776794 PDGFRA Health Risk Pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS587776795 PDGFRA Health Risk Pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS587776797 ENPP1 Health Risk Pathogenic Hypophosphatemic rickets, autosomal recessive
RS587776798 POU1F1 Health Risk Likely pathogenic Pituitary hormone deficiency, combined
RS587776799 POU1F1 Health Risk Pathogenic Pituitary hormone deficiency, combined
RS587776800 PLA2G2A Health Risk Pathogenic Familial colorectal cancer, Familial colorectal cancer
RS587776801 PGM1 Health Risk Pathogenic PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
RS587776802 PIK3CA Health Risk Likely pathogenic Hepatocellular carcinoma, Gastric cancer
RS587776804 KIT Health Risk Pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS587776805 ERBB2 Health Risk Pathogenic Lung adenocarcinoma, Lung adenocarcinoma
RS587776806 NPM1 Health Risk Pathogenic Acute myeloid leukemia, Myelodysplastic syndrome progressed to acute myeloid leukemia
RS587776807 IL12B Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
RS587776808 MYH9 Health Risk Pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS587776809 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
RS587776810 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS587776811 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS587776812 LAMB3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, non-Herlitz type
RS587776813 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa, non-Herlitz type
RS587776814 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa, non-Herlitz type
RS587776815 KRT10 Health Risk Pathogenic Congenital reticular ichthyosiform erythroderma, Congenital reticular ichthyosiform erythroderma
RS587776816 KRT10 Health Risk Pathogenic Congenital reticular ichthyosiform erythroderma, Congenital reticular ichthyosiform erythroderma
RS587776817 KRT10 Health Risk Pathogenic Congenital reticular ichthyosiform erythroderma, Congenital reticular ichthyosiform erythroderma
RS587776819 INSR Health Risk Pathogenic Rabson-Mendenhall syndrome, Rabson-Mendenhall syndrome
RS587776820 INSR Health Risk Pathogenic Rabson-Mendenhall syndrome, Rabson-Mendenhall syndrome
RS587776822 IFNGR2 Health Risk Pathogenic Immunodeficiency 28, Immunodeficiency 28
RS587776823 IFNGR2 Health Risk Pathogenic Immunodeficiency 28, Immunodeficiency 28
RS587776825 HNF1A Health Risk Pathogenic Maturity-onset diabetes of the young type 3, Clear cell carcinoma of kidney
RS587776826 HBA2 Health Risk Pathogenic Alpha trait thalassemia, Alpha trait thalassemia
RS587776827 HBA2 Health Risk Likely pathogenic HEMOGLOBIN CLINICO-MADRID, Hemoglobin H disease
RS587776828 HBA2 Health Risk Pathogenic Alpha-thalassemia, Hmong type
RS587776829 GNAS Health Risk Pathogenic/Likely pathogenic Pseudohypoparathyroidism, Progressive osseous heteroplasia
RS587776831 GYS2 Health Risk Pathogenic Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency
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