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
RS759982229 SCN4A Health Risk Conflicting classifications of pathogenicity Paramyotonia congenita of Von Eulenburg, Congenital myasthenic syndrome 16
RS759982570 DNAJB6 Health Risk Pathogenic Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Abnormality of the musculature
RS759982943 G6PC1 Health Risk Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS759983332 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS759983785 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS759985112 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759987183 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS759987234 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS759987427 F9 Health Risk Pathogenic/Likely pathogenic Hereditary factor IX deficiency disease, Thrombophilia
RS759987473 IGHMBP2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
RS759988046 PIGV Health Risk Likely pathogenic Hyperphosphatasia with intellectual disability syndrome 1, Hyperphosphatasia with intellectual disability syndrome 1
RS759988398 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS759988845 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS759989401 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759989949 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS759989953 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS759990188 UBR1 Health Risk Conflicting classifications of pathogenicity —
RS759990189 COL7A1 Health Risk Pathogenic Epidermolysis bullosa pruriginosa, autosomal recessive
RS759990771 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS759991375 SLC26A4 Health Risk Likely pathogenic —
RS759991844 DVL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759992526 KCNJ1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 2, Inborn genetic diseases
RS759992645 SUOX Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS759993423 KCNJ10 Health Risk Conflicting classifications of pathogenicity EAST syndrome, Inborn genetic diseases
RS759993457 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, Inborn genetic diseases
RS759997079 MVK Health Risk Conflicting classifications of pathogenicity Mevalonic aciduria, Porokeratosis 3
RS759997114 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS759997694 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Acute febrile neutrophilic dermatosis
RS759997772 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS759998177 MAP2K2 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS759998394 GLRA1 Health Risk Conflicting classifications of pathogenicity Hereditary hyperekplexia, Hereditary hyperekplexia
RS759998867 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS759998900 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Ehlers-Danlos syndrome
RS759998919 ANK3 Health Risk Conflicting classifications of pathogenicity Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Inborn genetic diseases
RS760000075 TTI1 Health Risk Likely pathogenic Severe intellectual disability, Severe intellectual disability
RS760000110 CHM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760001414 ATF6 Health Risk Pathogenic —
RS760001730 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Cervical cancer
RS760001916 ENG Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS760003063 NAGA Health Risk Conflicting classifications of pathogenicity Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2
RS760003191 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS760003902 ITPA Health Risk Pathogenic Inosine triphosphatase deficiency, Inosine triphosphatase deficiency
RS760004573 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS760004891 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation
RS760005580 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS760006536 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS760006956 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS760007187 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS760007740 SYNE4 Health Risk Conflicting classifications of pathogenicity —
RS760007747 TTN Health Risk Conflicting classifications of pathogenicity —
RS760007799 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS760008381 DLL1 Health Risk Pathogenic See cases, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
RS760010021 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS760010175 RYR1 Health Risk Likely pathogenic —
RS760011180 MOCS1 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS760011764 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS760012847 NDE1 Health Risk Conflicting classifications of pathogenicity Lissencephaly 4, Lissencephaly 4
RS760013326 INVS Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Infantile nephronophthisis
RS760014795 TTPA Health Risk Pathogenic/Likely pathogenic Familial isolated deficiency of vitamin E, Inborn genetic diseases
RS760015202 COG5 Health Risk Likely pathogenic —
RS760015622 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS760015626 KCNA5 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS760017478 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Inborn genetic diseases
RS760017935 SP110 Health Risk Conflicting classifications of pathogenicity Hepatic veno-occlusive disease-immunodeficiency syndrome, Inborn genetic diseases
RS760019076 RELN Health Risk Pathogenic 9 conditions, 9 conditions
RS760021784 KARS1 Health Risk Conflicting classifications of pathogenicity —
RS760021808 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
RS760022693 PTPN23 Health Risk Conflicting classifications of pathogenicity Global developmental delay, Brain atrophy
RS760022829 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4B
RS760022956 TACR3 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 11 with or without anosmia, TACR3-related disorder
RS760023025 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS760023084 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS760024638 TUBGCP6 Health Risk Pathogenic/Likely pathogenic Microcephaly and chorioretinopathy 1, Microcephaly and chorioretinopathy 1
RS760024863 IL13RA1 Health Risk Conflicting classifications of pathogenicity —
RS760025627 TPRN Health Risk Pathogenic —
RS760026221 DNAH9 Health Risk Pathogenic/Likely pathogenic Congenital heart disease, Ciliary dyskinesia
RS760027420 ERCC6 Health Risk Pathogenic —
RS760027964 AIRE Health Risk Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
RS760028443 TRIP11 Health Risk Pathogenic Achondrogenesis, type IA
RS760029026 GEMIN5 Health Risk Likely pathogenic GEMIN5-related neurodevelopmental disorder, Inborn genetic diseases
RS760029045 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760029192 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS760029254 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphatasia, Adult hypophosphatasia
RS760030067 FDXR Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS760030699 MYO5B Health Risk Pathogenic —
RS760031457 DUOX2 Health Risk Conflicting classifications of pathogenicity Congenital hypothyroidism, Thyroid dyshormonogenesis 6
RS760031526 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS760032006 TP63 Health Risk Likely pathogenic —
RS760032797 CYP17A1 Health Risk Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS760033003 ANO5 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS760033566 PRKAR1A Health Risk Conflicting classifications of pathogenicity Carney complex, type 1
RS760033609 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS760033804 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Shprintzen-Goldberg syndrome
RS760034724 VPS13A Health Risk Pathogenic —
RS760034947 TCTN2 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS760036030 TCOF1 Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS760037330 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS760037989 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS760038328 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS760038605 RACGAP1 Health Risk Pathogenic Anemia, congenital dyserythropoietic
« Prev 1 ... 3357 3358 3359 3360 3361 3362 3363 ... 4509 Next »

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

Get Started Free →