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
RS763294619 PACS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PACS1-related disorder
RS763294691 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS763295314 IMPG2 Health Risk Pathogenic Vitelliform macular dystrophy 5, Autosomal recessive retinitis pigmentosa
RS763295786 AFF4 Health Risk Conflicting classifications of pathogenicity Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome, Inborn genetic diseases
RS763295904 SEMA3E Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, SEMA3E-related disorder
RS763295910 RNASET2 Health Risk Conflicting classifications of pathogenicity Cystic leukoencephalopathy without megalencephaly, Cystic leukoencephalopathy without megalencephaly
RS763295984 NIPA1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 6, Hereditary spastic paraplegia 6
RS763296134 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS763296454 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS763296857 SRD5A2 Health Risk Pathogenic/Likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS763298490 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, PC-related disorder
RS763298510 SLC22A12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Dalmatian hypouricemia
RS763298811 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS763299645 NAGLU Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS763299839 DST Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS763299856 WDPCP Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS763299873 BMP1 Health Risk Pathogenic Osteogenesis imperfecta type 13, Osteogenesis imperfecta type 13
RS763299947 DCDC2 Health Risk Pathogenic DCDC2-related disorder, DCDC2-related disorder
RS763300393 NPHP3 Health Risk Pathogenic Nephronophthisis 3, Nephronophthisis
RS763300541 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS763301021 USH2A Health Risk Pathogenic —
RS763301606 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS763301637 HGSNAT Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Mucopolysaccharidosis
RS763302311 GBE1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV
RS763302328 TRMT1 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 68
RS763302555 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Neuronopathy
RS763302590 FGFR3 Health Risk Conflicting classifications of pathogenicity —
RS763303046 DLD Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS763303290 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS763303967 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS763305108 HPS3 Health Risk Pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS763305896 NT5C2 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45
RS763306448 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS763307794 CFAP300 Health Risk Pathogenic —
RS763308199 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS763308607 PMS2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS763309812 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS763310793 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS763310804 NEK1 Health Risk Pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS763311061 COQ8A Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS763312940 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS763313220 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS763314828 PSMB8 Health Risk Likely pathogenic Proteasome-associated autoinflammatory syndrome 1, Proteasome-associated autoinflammatory syndrome 1
RS763315364 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS763315862 ERCC3 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum group B, Inborn genetic diseases
RS763316592 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS763317358 NCF2 Health Risk Pathogenic Granulomatous disease, chronic
RS763317497 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS763320093 LMX1A Health Risk Conflicting classifications of pathogenicity Sensorineural hearing loss disorder, Autosomal-Recessive Hereditary Hearing Impairment
RS763320493 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763321913 SMARCD2 Health Risk Pathogenic —
RS763321998 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS763323157 SUN2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
RS763323368 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS763324017 SUCLG1 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 9, Mitochondrial DNA depletion syndrome 9
RS763324083 HSPG2 Health Risk Conflicting classifications of pathogenicity —
RS763324131 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS763324776 CRB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS763325410 SYNE1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive ataxia, Beauce type
RS763325435 NMNAT1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 9, Leber congenital amaurosis 9
RS763326062 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS763326505 SOX4 Health Risk Likely pathogenic —
RS763326515 TBXAS1 Health Risk Pathogenic Ghosal hematodiaphyseal dysplasia, Ghosal hematodiaphyseal dysplasia
RS763328506 ALOX12B Health Risk Pathogenic Autosomal recessive congenital ichthyosis 2, Lamellar ichthyosis
RS763329139 TCF4 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS763330257 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS763330423 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Primary dilated cardiomyopathy
RS763330792 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 1
RS763330900 ADAMTS18 Health Risk Pathogenic —
RS763331671 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS763331925 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Inborn genetic diseases
RS763332557 MYL2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 10
RS763332823 PBX1 Health Risk Pathogenic —
RS763332859 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS763333048 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS763333945 HADHB Health Risk Pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS763336139 EGF Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, EGF-related disorder
RS763336230 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Myopathy
RS763336891 CR2 Health Risk Pathogenic Immunodeficiency, common variable
RS763336898 DNMT3A Health Risk Conflicting classifications of pathogenicity Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS763337272 YARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate C, Inborn genetic diseases
RS763339068 HCN1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS763339686 CFTR Health Risk Conflicting classifications of pathogenicity CFTR-related disorder, Cystic fibrosis
RS763342449 SI Health Risk Pathogenic —
RS763342949 DOCK7 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 23
RS763343306 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS763343344 DAG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS763343580 AFG2B Health Risk Pathogenic Hearing loss, autosomal recessive 119
RS763344375 THOC6 Health Risk Pathogenic Inborn genetic diseases, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
RS763344414 GFM1 Health Risk Pathogenic/Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS763344951 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS763345078 CEP290 Health Risk Pathogenic Bardet-Biedl syndrome 14, Meckel syndrome
RS763346457 PEPD Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS763346690 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, EGFR-related lung cancer
RS763347763 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS763348222 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS763349669 DIAPH1 Health Risk Likely pathogenic Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1
RS763349891 PYCR1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive cutis laxa type 2B, PYCR1-related de Barsy syndrome
RS763350185 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS763351805 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
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