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
RS138374817 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Inborn genetic diseases
RS138374956 MMUT Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS1383756739 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS138376436 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Developmental and epileptic encephalopathy 6B
RS138376525 SLC25A19 Health Risk Conflicting classifications of pathogenicity Amish lethal microcephaly, SLC25A19-related disorder
RS1383769505 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, X-linked Alport syndrome
RS138376962 XIRP2 Health Risk Conflicting classifications of pathogenicity —
RS138376967 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, CIITA-related disorder
RS1383770460 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS138377835 HARS1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 3B, Usher syndrome type 3B
RS138378067 FUCA1 Health Risk Conflicting classifications of pathogenicity Fucosidosis, Inborn genetic diseases
RS1383783171 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS1383783174 HECW2 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, seizures
RS138378695 DLL3 Health Risk Conflicting classifications of pathogenicity Syndactyly, Spondylocostal dysostosis 1
RS138379032 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS138379074 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS1383792017 ACTN1 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 15, Platelet-type bleeding disorder 15
RS1383795440 DEPDC5 Health Risk Pathogenic Self-limited epilepsy with centrotemporal spikes, Self-limited epilepsy with centrotemporal spikes
RS138379977 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS1383803030 EVC2 Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS138380958 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS138381632 SCN1B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 5, Cardiovascular phenotype
RS138381683 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, MSH3-related disorder
RS138381915 GRHL3 Health Risk Conflicting classifications of pathogenicity Van der Woude syndrome 2, Inborn genetic diseases
RS1383819913 DEAF1 Health Risk Pathogenic Intellectual disability, autosomal dominant 24
RS1383821738 KMT2D Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, Kabuki syndrome
RS138382420 SLC12A1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 1, Inborn genetic diseases
RS1383825118 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS138382534 LRP2 Health Risk Conflicting classifications of pathogenicity LRP2-related disorder, LRP2-related disorder
RS1383826978 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS138382758 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2A2, Hereditary motor and sensory neuropathy with optic atrophy
RS138383101 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS1383833874 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS138385061 ERCC3 Health Risk Pathogenic Xeroderma pigmentosum group B, Xeroderma pigmentosum
RS138386557 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS138386617 DAG1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
RS138386772 PAPSS2 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, PAPSS2 type
RS138387687 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS138387807 SLC10A2 Health Risk Conflicting classifications of pathogenicity —
RS138387856 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS138387946 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases
RS138388301 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS138389072 FBN2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Congenital contractural arachnodactyly
RS1383907349 PDE6A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 43
RS138390862 MACF1 Health Risk Conflicting classifications of pathogenicity Lissencephaly 9 with complex brainstem malformation, Inborn genetic diseases
RS1383911599 DISP1 Health Risk Likely pathogenic —
RS1383912514 XPA Health Risk Pathogenic —
RS138391404 KCNJ8 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS138392504 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS138392588 MYOM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS138392909 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138393322 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS138393416 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS138394487 DMXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DMXL2-related disorder
RS1383948929 GRM1 Health Risk Conflicting classifications of pathogenicity —
RS138395184 FANCG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Fanconi anemia
RS138396764 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Spondylometaphyseal dysplasia
RS138396959 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS138397380 INTS1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with cataracts, poor growth
RS138397457 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS138398085 SEMA4A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Cone-rod dystrophy 10
RS138398268 COG8 Health Risk Conflicting classifications of pathogenicity COG8-congenital disorder of glycosylation, Inborn genetic diseases
RS138398480 BICC1 Health Risk Conflicting classifications of pathogenicity BICC1-related disorder, BICC1-related disorder
RS1383985512 UNC45A Health Risk Pathogenic Osteootohepatoenteric syndrome, Osteootohepatoenteric syndrome
RS138398760 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group D2
RS138398778 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS138398782 DLD Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E3 deficiency, Leigh syndrome
RS138398942 C2CD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138399473 AMER1 Health Risk Conflicting classifications of pathogenicity Osteopathia striata with cranial sclerosis, Osteopathia striata with cranial sclerosis
RS1384003425 UBQLN2 Health Risk Likely pathogenic —
RS138400599 ABHD5 Health Risk Conflicting classifications of pathogenicity Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis
RS138400723 MATN3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138401303 SZT2 Health Risk Conflicting classifications of pathogenicity —
RS1384021857 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1384034145 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1384034981 DBT Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1384040769 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS1384042381 OCA2 Health Risk Likely pathogenic Albinism, Tyrosinase-positive oculocutaneous albinism
RS138404783 SCN10A Health Risk Conflicting classifications of pathogenicity Episodic pain syndrome, familial
RS138405215 HBB Health Risk Conflicting classifications of pathogenicity —
RS1384052546 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KBG syndrome
RS138406248 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138406510 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N
RS138407155 APOA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS138407813 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS1384084291 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis 4
RS138409434 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS1384099162 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS1384101598 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS138410865 APC Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS138410893 PIGL Health Risk Conflicting classifications of pathogenicity CHIME syndrome, CHIME syndrome
RS138410949 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Intellectual disability
RS138411530 BTK Health Risk Conflicting classifications of pathogenicity X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency
RS138413231 PRAMEF4 Health Risk Conflicting classifications of pathogenicity —
RS1384133905 IDH3A Health Risk Likely pathogenic —
RS138413501 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1384148842 TAF8 Health Risk Likely pathogenic Neurodevelopmental disorder with severe motor impairment, absent language
RS1384158714 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS138416154 PHKG2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXc, PHKG2-related disorder
RS1384166265 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
« Prev 1 ... 449 450 451 452 453 454 455 ... 4509 Next »

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

Get Started Free →