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
RS745759890 ACAD9 Health Risk Likely pathogenic —
RS745759931 DNAJC21 Health Risk Pathogenic —
RS745759959 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS745760392 JPH2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS745761673 WFS1 Health Risk Likely pathogenic —
RS745763201 PMS2 Health Risk Likely pathogenic —
RS745763431 TCF20 Health Risk Conflicting classifications of pathogenicity Developmental delay with variable intellectual impairment and behavioral abnormalities, Inborn genetic diseases
RS745763932 CRTAP Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS745763987 PEX26 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS745764335 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS745764562 CBS Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Homocystinuria
RS745764691 LMF1 Health Risk Likely pathogenic LMF1-related disorder, LMF1-related disorder
RS745765337 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group D2, Fanconi anemia
RS745765868 LRP2 Health Risk Likely pathogenic Donnai-Barrow syndrome, Thyroid cancer
RS745766346 MATN3 Health Risk Conflicting classifications of pathogenicity Multiple epiphyseal dysplasia type 5, Multiple epiphyseal dysplasia type 5
RS745766441 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
RS745766760 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 2
RS745766916 MRE11 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS745766977 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS745767539 TMC1 Health Risk Pathogenic —
RS745768694 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS745768777 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS745769829 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS745770134 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases
RS745770404 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS745771647 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS745772518 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS745772634 MED13 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder 61, Intellectual developmental disorder 61
RS745772939 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS745773225 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS745773662 SMARCB1 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 1, SMARCB1-related schwannomatosis
RS745774108 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype
RS745774620 SLC26A2 Health Risk Pathogenic/Likely pathogenic Multiple epiphyseal dysplasia type 4, Achondrogenesis
RS745774658 SCN2A Health Risk Conflicting classifications of pathogenicity Seizure, Seizure
RS745775171 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS745775382 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS745775419 SETX Health Risk Pathogenic Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS745775887 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS745775933 MAN2B2 Health Risk Likely pathogenic —
RS745776063 MAGEL2 Health Risk Conflicting classifications of pathogenicity MAGEL2-related disorder, MAGEL2-related disorder
RS745776539 TRIOBP Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 28, TRIOBP-related disorder
RS745776915 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS745776920 KHDC3L Health Risk Likely pathogenic Hydatidiform mole, recurrent
RS745776977 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS745777805 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS745778317 POLH Health Risk Pathogenic Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type
RS745782166 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, Trigonocephaly 2
RS745782331 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS745783052 BRAF Health Risk Conflicting classifications of pathogenicity RASopathy, Primary dilated cardiomyopathy
RS745783399 TDRD1 Health Risk Likely pathogenic Male infertility, Male infertility
RS745784432 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Renal tubular dysgenesis
RS745785393 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, OTOF-related disorder
RS745788222 COL2A1 Health Risk Likely pathogenic MASS syndrome, MASS syndrome
RS745788940 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS745789021 MOCS1 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS745789469 MKS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 13, Meckel syndrome
RS745790694 FIG4 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4J
RS745791097 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS745793409 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS745793517 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS745794356 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS745795188 ADA2 Health Risk Pathogenic Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2
RS745795470 EDN3 Health Risk Likely pathogenic Hirschsprung disease, susceptibility to
RS745797691 MECOM Health Risk Conflicting classifications of pathogenicity Abnormal bleeding, Thrombocytopenia
RS745797941 RAD50 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS745798632 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS745800110 TBC1D24 Health Risk Pathogenic/Likely pathogenic TBC1D24-related disorder, Autosomal dominant nonsyndromic hearing loss 65
RS745800212 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS745800327 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS745800344 DRC1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS745801834 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS745802492 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS745802920 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Inborn genetic diseases
RS745803719 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS745803896 NBAS Health Risk Pathogenic —
RS745804153 FGA Health Risk Likely pathogenic Familial dysfibrinogenemia, Familial dysfibrinogenemia
RS745804540 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Café-au-lait macules with pulmonary stenosis
RS745805590 SKIC3 Health Risk Conflicting classifications of pathogenicity —
RS745806197 AARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 8, Combined oxidative phosphorylation defect type 8
RS745806504 NPHP1 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis 1
RS745806637 RERE Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without anomalies of the brain, eye
RS745806762 GMPPA Health Risk Pathogenic/Likely pathogenic Alacrima, achalasia
RS745807085 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS745807357 PRPH2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Pigmentary retinal dystrophy
RS745807727 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS745807900 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS745808344 TRIM8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745808884 SLC26A2 Health Risk Likely pathogenic Achondrogenesis, type IB
RS745808996 COL9A3 Health Risk Conflicting classifications of pathogenicity —
RS745809543 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS745811346 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS745811356 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, APC-Associated Polyposis Disorders
RS745812917 KMT2B Health Risk Conflicting classifications of pathogenicity —
RS745812924 GATA2 Health Risk Conflicting classifications of pathogenicity Monocytopenia with susceptibility to infections, Deafness-lymphedema-leukemia syndrome
RS745813087 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 4
RS745814294 NGLY1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of deglycosylation, Congenital disorder of deglycosylation 1
RS745815071 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS745816899 PTPRC Health Risk Likely pathogenic Immunodeficiency 104, Immunodeficiency 104
RS745817076 SPTBN4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neurodevelopmental disorder with hypotonia
RS745817393 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
« Prev 1 ... 3127 3128 3129 3130 3131 3132 3133 ... 4509 Next »

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

Get Started Free →