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
RS199475622 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475623 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475624 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475625 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475626 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475627 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475628 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475629 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475630 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475631 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475632 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475633 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475634 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475638 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475639 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475641 PAH Health Risk Pathogenic/Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475643 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475644 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475645 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475647 PAH Health Risk Likely pathogenic Phenylketonuria, See cases
RS199475648 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475649 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475650 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475651 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475652 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475653 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475654 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475655 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475656 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475657 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475658 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475659 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475660 PAH Health Risk Pathogenic/Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475661 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475663 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475664 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475665 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475666 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475670 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475671 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475673 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475674 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475675 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475676 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475677 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475678 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475679 PAH Health Risk Pathogenic Phenylketonuria, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS199475680 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475682 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475684 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475686 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475689 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475690 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475691 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475692 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475693 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475694 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475695 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475696 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475697 PAH Health Risk Pathogenic Phenylketonuria, Inborn genetic diseases
RS199475698 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475763 NLRP5 Health Risk Likely pathogenic —
RS199475868 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
RS199475923 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS199475953 NLRC4 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome
RS199476082 AGT Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Renal tubular dysgenesis of genetic origin
RS199476083 MUSK Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS199476084 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS199476085 BMPR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS199476086 BMPR1A Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS199476087 BMPR1A Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS199476088 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS199476089 BMPR1A Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS199476090 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS199476093 PTCH1 Health Risk Pathogenic Holoprosencephaly 7, Holoprosencephaly 7
RS199476094 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS199476095 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS199476096 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS199476097 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS199476098 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS199476099 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS199476100 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS199476101 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS199476102 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS199476103 CCDC107;RMRP Health Risk Pathogenic/Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS199476104 MT-ND6 Health Risk Pathogenic Leber optic atrophy, Leigh syndrome
RS199476105 MT-ND5;MT-ND6 Health Risk Pathogenic Leber optic atrophy and dystonia, Leigh syndrome due to mitochondrial complex I deficiency
RS199476106 MT-ND6 Health Risk Likely pathogenic Leber optic atrophy, Mitochondrial disease
RS199476107 MT-ND6 Health Risk Likely pathogenic MELAS syndrome, Leigh syndrome
RS199476108 MT-ND6 Health Risk Likely pathogenic Leber optic atrophy, Mitochondrial disease
RS199476109 MT-ND6 Health Risk Pathogenic Striatal necrosis, bilateral
RS199476112 MT-ND4 Health Risk Pathogenic Leber optic atrophy, Mitochondrial disease
RS199476117 MT-ND3 Health Risk Pathogenic Mitochondrial complex I deficiency, mitochondrial type 1
RS199476118 MT-ND1 Health Risk Pathogenic Leber optic atrophy, Leigh syndrome
RS199476122 MT-ND1 Health Risk Likely pathogenic Leber optic atrophy and dystonia, MELAS syndrome
RS199476123 covers 22 genes, none of which curated to show dosage sensitivity Health Risk Likely pathogenic MELAS syndrome, Leigh syndrome
RS199476128 MT-CO1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS199476129 MT-CO1 Health Risk Likely pathogenic Myoglobinuria, recurrent
RS199476130 MT-TN Health Risk Pathogenic Ophthalmoplegia, isolated
RS199476132 MT-TN Health Risk Likely pathogenic MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 2
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