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
RS2125580580 SLC25A38 Health Risk Conflicting classifications of pathogenicity Sideroblastic anemia 2, Sideroblastic anemia 2
RS2125580600 SLC25A38 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2125580802 SETD5 Health Risk Pathogenic —
RS2125582750 SLC25A38 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2125582823 SLC25A38 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2125582841 SLC25A38 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2125582986 SLC25A38 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2125584589 SLC25A38 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2125584640 SLC25A38 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2125591475 GLB1 Health Risk Pathogenic Infantile GM1 gangliosidosis, Infantile GM1 gangliosidosis
RS2125591484 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS2125596197 CRTAP Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS2125597503 KIF1A Health Risk Pathogenic Hereditary spastic paraplegia 30, Neuropathy
RS2125598333 KIF1A Health Risk Pathogenic Hereditary spastic paraplegia 30, Neuropathy
RS2125602711 CRTAP Health Risk Likely pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS2125603874 CRTAP Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS2125616991 CTNNB1 Health Risk Pathogenic —
RS2125617589 CTNNB1 Health Risk Pathogenic Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2125617859 CTNNB1 Health Risk Pathogenic Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2125617982 CTNNB1 Health Risk Pathogenic —
RS2125619523 CTNNB1 Health Risk Likely pathogenic Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2125619545 CTNNB1 Health Risk Pathogenic Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2125619553 CTNNB1 Health Risk Pathogenic Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
RS2125620428 CTNNB1 Health Risk Pathogenic —
RS2125620433 CTNNB1 Health Risk Pathogenic —
RS2125620755 CTNNB1 Health Risk Pathogenic —
RS2125621297 CTNNB1 Health Risk Pathogenic —
RS2125622579 CTNNB1 Health Risk Pathogenic Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2125623075 CTNNB1 Health Risk Pathogenic Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2125623360 CTNNB1 Health Risk Pathogenic Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2125623412 CTNNB1 Health Risk Likely pathogenic See cases, See cases
RS2125623951 CTNNB1 Health Risk Pathogenic Colorectal cancer, Severe intellectual disability-progressive spastic diplegia syndrome
RS2125624259 CTNNB1 Health Risk Pathogenic —
RS2125624969 CTNNB1 Health Risk Likely pathogenic —
RS2125628072 CTNNB1 Health Risk Pathogenic —
RS2125628162 CTNNB1 Health Risk Likely pathogenic Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2125628404 CTNNB1 Health Risk Likely pathogenic —
RS2125629897 GMPPA Health Risk Likely pathogenic Alacrima, achalasia
RS2125632199 SETD5 Health Risk Likely pathogenic —
RS2125637461 CTNNB1 Health Risk Pathogenic Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2125637783 CTNNB1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2125637830 CTNNB1 Health Risk Pathogenic —
RS2125638080 CTNNB1 Health Risk Likely pathogenic Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2125638106 CTNNB1 Health Risk Pathogenic Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2125638578 CTNNB1 Health Risk Likely pathogenic —
RS2125638582 CTNNB1 Health Risk Pathogenic —
RS2125639190 CTNNB1 Health Risk Pathogenic —
RS2125639278 CTNNB1 Health Risk Pathogenic —
RS2125639654 GMPPA Health Risk Pathogenic Alacrima, achalasia
RS2125639718 CTNNB1 Health Risk Pathogenic Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2125640126 CTNNB1 Health Risk Conflicting classifications of pathogenicity CTNNB1-related syndromic intellectual disability, CTNNB1-related syndromic intellectual disability
RS2125640624 CTNNB1 Health Risk Pathogenic —
RS2125640691 CTNNB1 Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2125640705 CTNNB1 Health Risk Pathogenic —
RS2125640866 CTNNB1 Health Risk Pathogenic —
RS2125641801 CTNNB1 Health Risk Pathogenic —
RS2125644619 CTNNB1 Health Risk Pathogenic —
RS2125644627 CTNNB1 Health Risk Pathogenic Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2125644658 CTNNB1 Health Risk Likely pathogenic —
RS2125645038 CTNNB1 Health Risk Pathogenic —
RS2125645060 CTNNB1 Health Risk Likely pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS2125645129 CTNNB1 Health Risk Likely pathogenic Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2125646219 CTNNB1 Health Risk Pathogenic —
RS2125646355 CTNNB1 Health Risk Likely pathogenic CTNNB1-related disorder, CTNNB1-related disorder
RS2125647138 CTNNB1 Health Risk Pathogenic Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS2125650298 ARPC4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental delay
RS2125650519 CTNNB1 Health Risk Likely pathogenic —
RS2125652997 CTNNB1 Health Risk Pathogenic —
RS2125653005 CTNNB1 Health Risk Pathogenic —
RS2125653590 CTNNB1 Health Risk Conflicting classifications of pathogenicity —
RS2125672068 LARS2 Health Risk Pathogenic —
RS2125680264 LZTFL1 Health Risk Likely pathogenic Bardet-Biedl syndrome 17, Bardet-Biedl syndrome 17
RS2125682287 PIKFYVE Health Risk Pathogenic —
RS2125682979 PIKFYVE Health Risk Pathogenic Fleck corneal dystrophy, Fleck corneal dystrophy
RS2125693080 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2125693198 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2125693258 MLH1 Health Risk Pathogenic —
RS2125693589 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2125693612 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS2125693787 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS2125694037 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS2125694105 MLH1 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2125694695 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2125694907 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2125699699 POMGNT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS2125700249 POMGNT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS2125700641 POMGNT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS2125700808 POMGNT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS2125710774 MLH1 Health Risk Pathogenic/Likely pathogenic Endometrial carcinoma, Hereditary cancer-predisposing syndrome
RS2125711087 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2125711616 MLH1 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2125711634 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2125735291 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2125735738 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS2125736167 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2125739189 AFG2A Health Risk Likely pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS2125750668 LARS2 Health Risk Pathogenic Perrault syndrome 4, Perrault syndrome 4
RS2125756455 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2125756776 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2125757477 MLH1 Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
« Prev 1 ... 1710 1711 1712 1713 1714 1715 1716 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →