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
RS745507744 P3H2 Health Risk Conflicting classifications of pathogenicity —
RS74550830 LARGE1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
RS745508510 PGM3 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 23, Severe combined immunodeficiency disease
RS745508761 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer
RS745508762 KCNQ2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 7
RS745509085 POMT1 Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS745509632 SORD Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS745510765 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS74551128 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, ivacaftor response - Efficacy
RS745511282 NAGS Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III
RS745511715 GLIS3 Health Risk Conflicting classifications of pathogenicity Neonatal diabetes mellitus with congenital hypothyroidism, Inborn genetic diseases
RS745511810 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy
RS745512079 LAMC2 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS745512712 LAMA1 Health Risk Pathogenic —
RS745516122 SPART Health Risk Pathogenic —
RS745516434 FLG Health Risk Pathogenic/Likely pathogenic FLG-related disorder, FLG-related disorder
RS745517212 CAD Health Risk Conflicting classifications of pathogenicity Infantile epileptic dyskinetic encephalopathy, Infantile epileptic dyskinetic encephalopathy
RS745517517 GNE Health Risk Pathogenic GNE myopathy, Sialuria
RS745518012 MKS1 Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS745518051 ALMS1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Alstrom syndrome
RS745519889 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS745520295 NDRG1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4
RS745521166 TCIRG1 Health Risk Conflicting classifications of pathogenicity —
RS745521288 PGAP2 Health Risk Likely pathogenic Hyperphosphatasia with intellectual disability syndrome 3, Hyperphosphatasia with intellectual disability syndrome 3
RS745522018 COL9A2 Health Risk Conflicting classifications of pathogenicity Melanoma, Melanoma
RS745522483 CEP290 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis, Meckel-Gruber syndrome
RS745522921 PAX9 Health Risk Likely pathogenic Tooth agenesis, selective
RS745522949 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS745523154 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS745523374 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS745524993 SLC6A19 Health Risk Likely pathogenic Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect
RS745525261 DNAH17 Health Risk Likely pathogenic DNAH17-related disorder, DNAH17-related disorder
RS74552543 CNNM4 Health Risk Pathogenic Jalili syndrome, Jalili syndrome
RS745526087 SKIC2 Health Risk Pathogenic —
RS745526568 NEK1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Short-rib thoracic dysplasia 6 with or without polydactyly
RS745528043 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, Inborn genetic diseases
RS745528502 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS745528772 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS745528957 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS745529713 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS745529755 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Inborn genetic diseases
RS745530308 PRICKLE2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Progressive myoclonic epilepsy type 5
RS745530646 YARS1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS745531507 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KBG syndrome
RS745532481 COL9A1 Health Risk Pathogenic/Likely pathogenic —
RS745533713 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS745534256 SCO2 Health Risk Pathogenic —
RS745534850 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS745538859 GRIN2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745538883 BLM Health Risk Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS745539518 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinal dystrophy
RS74553953 CEP152 Health Risk Conflicting classifications of pathogenicity Seckel syndrome 5, Microcephaly 9
RS745539599 POLG Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome, Mitochondrial DNA depletion syndrome
RS745539706 SLC6A5 Health Risk Pathogenic Hyperekplexia 3, Hyperekplexia 3
RS745541294 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS745542691 GPR179 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745543661 WARS2 Health Risk Likely pathogenic Neurodevelopmental disorder, mitochondrial
RS745543829 SLC34A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive hypophosphatemic bone disease
RS745544039 ABCA4 Health Risk Pathogenic —
RS745544108 DDX41 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS745544854 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS745544964 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS745545200 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS745546266 ATP8B1 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
RS745546363 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental delay
RS745547578 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS745547693 COL9A3 Health Risk Conflicting classifications of pathogenicity —
RS745547797 RHOBTB2 Health Risk Conflicting classifications of pathogenicity —
RS745549446 PYCR1 Health Risk Conflicting classifications of pathogenicity Cutis laxa, Cutis laxa
RS745549628 TPM2 Health Risk Likely pathogenic Arthrogryposis, distal
RS745551441 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Inborn genetic diseases
RS745552747 RP1 Health Risk Pathogenic —
RS745552903 DNAH1 Health Risk Likely pathogenic Spermatogenic failure 18, Spermatogenic failure 18
RS745553087 MSH3 Health Risk Likely pathogenic Endometrial carcinoma, Endometrial carcinoma
RS745553184 UQCRC2 Health Risk Conflicting classifications of pathogenicity —
RS745553724 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS745554323 FIG4 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
RS745554420 MID1 Health Risk Pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS745555171 CRYBA1 Health Risk Likely pathogenic Cataract 10 multiple types, Cataract 10 multiple types
RS745555433 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS745557293 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS745557512 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS74555752 RNASEH2B Health Risk Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
RS745557569 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS745557874 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS745558003 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS745559136 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS745559323 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS745563552 AQP5 Health Risk Likely pathogenic Palmoplantar keratoderma, Bothnian type
RS745563711 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS745563920 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases
RS745564692 SLC35D1 Health Risk Conflicting classifications of pathogenicity Schneckenbecken dysplasia, Schneckenbecken dysplasia
RS745565332 GPT2 Health Risk Conflicting classifications of pathogenicity Glutamate pyruvate transaminase 2 deficiency, Hereditary spastic paraplegia 73
RS745565855 NDUFS6 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS745566147 CCDC8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745566747 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS74556809 TREX1 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 1, Chilblain lupus 1
RS745568808 COL11A2 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia
RS745568821 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS745569223 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Central core myopathy
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