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
RS2061032710 SCN5A Health Risk Pathogenic —
RS2061038127 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS2061040474 COL4A4 Health Risk Conflicting classifications of pathogenicity Hematuria, benign familial
RS2061041235 COL4A4 Health Risk Pathogenic —
RS2061066554 RTTN Health Risk Pathogenic —
RS2061073406 HUWE1 Health Risk Likely pathogenic —
RS2061094546 SCN5A Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2061097129 ITGB4 Health Risk Likely pathogenic —
RS2061098856 NDUFA13 Health Risk Pathogenic Decreased activity of mitochondrial complex I, Mitochondrial complex I deficiency
RS2061100863 SCN5A Health Risk Likely pathogenic —
RS2061105702 NDUFA13 Health Risk Pathogenic Decreased activity of mitochondrial complex I, Mitochondrial complex I deficiency
RS2061105872 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS2061111812 CEP83 Health Risk Pathogenic Nephronophthisis 18, Nephronophthisis 18
RS2061113374 CEP83 Health Risk Pathogenic Nephronophthisis 18, Nephronophthisis 18
RS2061116343 NFKB2 Health Risk Likely pathogenic Immunodeficiency, common variable
RS2061147191 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome 1, Brugada syndrome 1
RS2061157682 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2061162295 SCN5A Health Risk Likely pathogenic Brugada syndrome, Brugada syndrome
RS2061168979 ITGB4 Health Risk Likely pathogenic —
RS2061175467 SCN5A Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2061175762 SCN5A Health Risk Pathogenic —
RS2061204822 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2061224553 TCF12 Health Risk Pathogenic TCF12-related craniosynostosis, TCF12-related craniosynostosis
RS2061228286 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome 1, Brugada syndrome 1
RS2061229370 SCN5A Health Risk Pathogenic Brugada syndrome, Brugada syndrome
RS2061230986 SCN5A Health Risk Pathogenic —
RS2061265539 BPTF Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2061267874 SCN5A Health Risk Likely pathogenic Cardiac arrhythmia, Brugada syndrome
RS2061270021 SCN5A Health Risk Likely pathogenic Brugada syndrome, Brugada syndrome
RS2061271482 SCN5A Health Risk Pathogenic —
RS2061278560 NFKB2 Health Risk Likely pathogenic Immunodeficiency, common variable
RS2061279365 NFKB2 Health Risk Pathogenic Immunodeficiency, common variable
RS2061298344 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS2061301543 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2061305104 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS2061310130 COG1 Health Risk Pathogenic COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation
RS2061310712 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS2061312470 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS2061316510 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2061318885 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2061323811 BRIP1 Health Risk Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2061323841 GPHN Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2061324917 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS2061326120 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS2061326585 BRIP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2061333185 ITGB4 Health Risk Pathogenic Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS2061340335 PCDH15 Health Risk Pathogenic —
RS2061340651 TTN Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2061351777 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS2061353270 BRIP1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2061353736 BRIP1 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2061354035 BRIP1 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2061355653 ITGB4 Health Risk Pathogenic Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS2061358219 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2061359296 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2061363316 TBCD Health Risk Conflicting classifications of pathogenicity Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
RS2061366129 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2061375797 COG1 Health Risk Pathogenic COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation
RS2061376825 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2061387927 GRIP1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 3, Fraser syndrome 3
RS2061391242 TCF4 Health Risk Pathogenic —
RS2061393783 COL4A4 Health Risk Pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2061393958 COL4A4 Health Risk Pathogenic Alport syndrome, Autosomal recessive Alport syndrome
RS2061394463 IL17RA Health Risk Pathogenic Immunodeficiency 51, Immunodeficiency 51
RS2061396039 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS2061397001 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2061409627 CTNND1 Health Risk Pathogenic Cleft lip with or without cleft palate, Cleft lip with or without cleft palate
RS2061428442 ITGB4 Health Risk Likely pathogenic ITGB4-related disorder, ITGB4-related disorder
RS2061464108 ATP2B2 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss, Autosomal dominant nonsyndromic hearing loss
RS2061467212 SCN5A Health Risk Likely pathogenic —
RS2061476512 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS2061477443 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2061477722 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2061478781 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2061478980 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2061494723 SCN5A Health Risk Conflicting classifications of pathogenicity —
RS2061514243 ITGB4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2061523666 CDAN1 Health Risk Pathogenic —
RS2061536765 SCN5A Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1E, Dilated cardiomyopathy 1E
RS2061536929 ITGB4 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS2061548697 CDAN1 Health Risk Pathogenic —
RS2061548936 FTSJ1 Health Risk Pathogenic Intellectual disability, X-linked 9
RS2061563475 GALK1 Health Risk Pathogenic/Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2061564118 GALK1 Health Risk Pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2061565957 FTSJ1 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2061566465 RALGAPA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neurodevelopmental disorder with hypotonia
RS2061574410 SCN5A Health Risk Pathogenic —
RS2061578946 SCN5A Health Risk Pathogenic —
RS2061580394 SCN5A Health Risk Pathogenic Brugada syndrome, Brugada syndrome
RS2061581608 SCN5A Health Risk Pathogenic/Likely pathogenic —
RS2061592335 GALK1 Health Risk Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2061594762 GALK1 Health Risk Pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2061596711 GALK1 Health Risk Pathogenic/Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2061598689 GALK1 Health Risk Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2061598873 GALK1 Health Risk Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2061599016 GALK1 Health Risk Pathogenic/Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2061599170 GALK1 Health Risk Pathogenic/Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS2061653217 USP7 Health Risk Pathogenic Hao-Fountain syndrome, Hao-Fountain syndrome
RS2061653258 SCN5A Health Risk Pathogenic Brugada syndrome 1, Brugada syndrome 1
RS2061653458 H3-3B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Brain imaging abnormality
« Prev 1 ... 1560 1561 1562 1563 1564 1565 1566 ... 4509 Next »

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

Get Started Free →