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
RS148095325 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS148095363 ATPAF2 Health Risk Conflicting classifications of pathogenicity —
RS148095551 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS148095831 SLC34A3 Health Risk Conflicting classifications of pathogenicity —
RS148095899 ERCC6 Health Risk Conflicting classifications of pathogenicity —
RS148096263 PKP1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex due to plakophilin deficiency, Epidermolysis bullosa simplex due to plakophilin deficiency
RS1480966586 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS148097786 IKBKB Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to IKK2 deficiency, Inborn genetic diseases
RS148097981 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS148098584 MBD4 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 2, Inborn genetic diseases
RS148098950 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12
RS148099176 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS1480995114 PTS Health Risk Conflicting classifications of pathogenicity 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, PTS-related disorder
RS1481004397 FOCAD Health Risk Pathogenic Liver disease, severe congenital
RS1481006723 FOXF1 Health Risk Pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS148100796 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS148101195 FLNB Health Risk Conflicting classifications of pathogenicity Spondylocarpotarsal synostosis syndrome, Atelosteogenesis type III
RS148101254 POLG2 Health Risk Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
RS148102335 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS148102980 KRT13 Health Risk Conflicting classifications of pathogenicity White sponge nevus 2, Inborn genetic diseases
RS148103512 BIVM-ERCC5;ERCC5;LOC126861834 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group G
RS148104401 CSF3R Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, CSF3R-related disorder
RS148104494 NTHL1 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome
RS148104605 FGFR3 Health Risk Conflicting classifications of pathogenicity —
RS148104757 VCAN Health Risk Conflicting classifications of pathogenicity Vitreoretinopathy, VCAN-related disorder
RS148104911 C6 Health Risk Conflicting classifications of pathogenicity C6-related disorder, C6-related disorder
RS148104959 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS148105120 C1S Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, periodontal type 2
RS148105340 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Charcot-Marie-Tooth disease dominant intermediate B
RS1481054050 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS148106526 FAAP24 Health Risk Conflicting classifications of pathogenicity —
RS148106618 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS148108322 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1481084539 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS148108718 PROC Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein C deficiency, autosomal dominant
RS148108992 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS148109242 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148109679 VSX2 Health Risk Conflicting classifications of pathogenicity Microphthalmia, isolated
RS148109897 ANK3 Health Risk Conflicting classifications of pathogenicity —
RS148110518 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, CPT2-related disorder
RS148110552 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS148110558 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 2, isolated
RS148111963 ASNS Health Risk Conflicting classifications of pathogenicity Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS1481119745 TMPRSS15 Health Risk Pathogenic —
RS1481122214 KCNT1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 14
RS148112476 LRPPRC Health Risk Pathogenic/Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1481129490 MLH1 Health Risk Pathogenic Lynch syndrome, Colorectal cancer
RS1481136060 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS148113884 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS148114532 CFAP418 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Cone-rod dystrophy 16
RS148114593 CD36 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 10, Platelet-type bleeding disorder 10
RS1481151440 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS148115230 NPHS1 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis, Finnish congenital nephrotic syndrome
RS1481152382 NHEJ1 Health Risk Likely pathogenic Cernunnos-XLF deficiency, Cernunnos-XLF deficiency
RS148115492 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS148115514 TTN Health Risk Conflicting classifications of pathogenicity —
RS148115738 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Intrauterine growth retardation
RS1481158831 AQP2 Health Risk Pathogenic/Likely pathogenic Diabetes insipidus, nephrogenic
RS1481160549 CYP4V2 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS148116542 CEP164 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 15, Nephronophthisis 15
RS148117486 SH3BP2 Health Risk Conflicting classifications of pathogenicity Fibrous dysplasia of jaw, Inborn genetic diseases
RS148118523 DOLK Health Risk Conflicting classifications of pathogenicity DK1-congenital disorder of glycosylation, Cardiovascular phenotype
RS1481189891 AP3B2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 48
RS1481189997 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1481197092 GCK Health Risk Conflicting classifications of pathogenicity —
RS148119952 NUDT2 Health Risk Likely pathogenic Intellectual developmental disorder with or without peripheral neuropathy, Intellectual developmental disorder with or without peripheral neuropathy
RS1481200467 ABCC6 Health Risk Pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS1481212897 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Stickler syndrome type 1
RS148121889 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Atrial fibrillation
RS148122007 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS148122591 ENAM Health Risk Conflicting classifications of pathogenicity Amelogenesis imperfecta, Amelogenesis imperfecta
RS148122817 HUWE1 Health Risk Conflicting classifications of pathogenicity —
RS148123045 DTNA Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 1, DTNA-related disorder
RS148123430 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS148124447 CLCN5 Health Risk Conflicting classifications of pathogenicity Dent disease type 1, X-linked recessive nephrolithiasis with renal failure
RS1481254965 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS148126079 VANGL1 Health Risk Conflicting classifications of pathogenicity Sacral defect with anterior meningocele, Neural tube defect
RS1481262338 NPHS2 Health Risk Pathogenic Nephrotic syndrome, type 2
RS1481262806 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS1481266018 PANK2 Health Risk Pathogenic/Likely pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS1481266372 NPAT Health Risk Conflicting classifications of pathogenicity —
RS1481266590 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS148126873 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS148127231 SPTB Health Risk Conflicting classifications of pathogenicity —
RS148127874 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Macular degeneration
RS1481291533 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS1481292684 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS148129382 HUWE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1481294022 COL4A4 Health Risk Pathogenic —
RS1481295744 TAOK1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Developmental delay with or without intellectual impairment or behavioral abnormalities
RS148129755 CPAMD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148131473 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Infantile cortical hyperostosis
RS148131534 KDM5B Health Risk Likely pathogenic KDM5B-related disorder, KDM5B-related disorder
RS148131665 STXBP1 Health Risk Conflicting classifications of pathogenicity Infantile epilepsy syndrome, Early-infantile DEE
RS148132118 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cardiovascular phenotype
RS148132134 KATNIP Health Risk Conflicting classifications of pathogenicity —
RS1481337703 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS148134079 REV3L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148134252 HPS4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, HPS4-related disorder
RS1481353859 RPL5 Health Risk Pathogenic —
« Prev 1 ... 692 693 694 695 696 697 698 ... 4509 Next »

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

Get Started Free →