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
RS376162589 TOP2B Health Risk Conflicting classifications of pathogenicity —
RS376163010 ETV6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376163184 ARHGAP6 Health Risk Conflicting classifications of pathogenicity —
RS376163622 TTC21B Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Nephronophthisis
RS376163818 F10 Health Risk Pathogenic Hereditary factor X deficiency disease, Hereditary factor X deficiency disease
RS376164225 LRP5 Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS376164426 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 15, Bardet-Biedl syndrome
RS376164700 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS376165374 HPS6 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
RS376166098 ATXN7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376168781 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS376169369 TUFM Health Risk Conflicting classifications of pathogenicity —
RS376169815 ENG Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS3761702 MERTK Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS376170264 SKIC3 Health Risk Conflicting classifications of pathogenicity —
RS376170600 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS376170776 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS376170815 COG7 Health Risk Conflicting classifications of pathogenicity COG7 congenital disorder of glycosylation, Inborn genetic diseases
RS376171095 COL3A1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Ehlers-Danlos syndrome
RS376171433 SUCLG1 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 9, Mitochondrial DNA depletion syndrome 9
RS376173303 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiomyopathy
RS376173313 NFATC1 Health Risk Conflicting classifications of pathogenicity —
RS376174484 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS376174565 EEF2 Health Risk Conflicting classifications of pathogenicity Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma
RS376174896 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4
RS376175156 UPF3B Health Risk Likely pathogenic Syndromic X-linked intellectual disability 14, UPF3B-related disorder
RS376176332 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS376177219 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases
RS376177973 HARS2 Health Risk Pathogenic/Likely pathogenic Perrault syndrome 2, Perrault syndrome
RS376178701 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS376179264 COL17A1 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, non-Herlitz type
RS376179903 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases
RS376180339 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS376181876 HARS2 Health Risk Pathogenic/Likely pathogenic Perrault syndrome 2, Gastric cancer
RS376183960 LMBR1 Health Risk Conflicting classifications of pathogenicity —
RS376185352 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS376185703 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS376186141 DSP Health Risk Conflicting classifications of pathogenicity Lethal acantholytic epidermolysis bullosa, Arrhythmogenic right ventricular dysplasia 8
RS376187378 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, Knobloch syndrome
RS376187918 SLC19A3 Health Risk Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS376188585 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS376188691 PRLR Health Risk Pathogenic Familial hyperprolactinemia, Familial hyperprolactinemia
RS376188702 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS376188859 TTN Health Risk Pathogenic/Likely pathogenic Myopathy, myofibrillar
RS376189614 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS376189812 TBX3 Health Risk Conflicting classifications of pathogenicity Ulnar-mammary syndrome, TBX3-related disorder
RS376189927 IFT27 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 19, Inborn genetic diseases
RS376190109 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS376193228 KRT83 Health Risk Conflicting classifications of pathogenicity —
RS376193847 USH2A Health Risk Pathogenic —
RS376194507 FBN2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Congenital contractural arachnodactyly
RS376194706 CAMTA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376194840 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, RBP3-related disorder
RS376194864 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS376195897 CRPPA Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS376196220 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS376196793 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS376197467 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS376197674 USH1C Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1C, Usher syndrome type 1C
RS376198104 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS376198840 PROM1 Health Risk Conflicting classifications of pathogenicity Retinal macular dystrophy type 2, Stargardt disease 4
RS376199241 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS376200169 TG Health Risk Likely pathogenic Congenital hypothyroidism, Iodotyrosyl coupling defect
RS376201065 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS376201066 SETD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376201106 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS376202643 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS376206840 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS376206979 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Maturity-onset diabetes of the young
RS376207235 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS376207606 HSD3B2 Health Risk Conflicting classifications of pathogenicity 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency
RS376208076 MYH3 Health Risk Conflicting classifications of pathogenicity Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome
RS376208769 TRDN Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 5, Catecholaminergic polymorphic ventricular tachycardia 1
RS376209388 AIFM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency
RS376210355 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS376210604 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Inborn genetic diseases
RS376211703 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
RS376212738 CYP27B1 Health Risk Conflicting classifications of pathogenicity Vitamin D-dependent rickets, type 1
RS376213437 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS376213990 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS376215289 PIK3R2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
RS376215728 LAMP2 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype
RS376216286 ABCB11 Health Risk Conflicting classifications of pathogenicity ABCB11-related disorder, Benign recurrent intrahepatic cholestasis type 2
RS376216833 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Inborn genetic diseases
RS376217891 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS376218204 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS376219481 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS376219601 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS376220034 NHP2 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 2
RS376220212 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS376220834 DIAPH1 Health Risk Conflicting classifications of pathogenicity Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1
RS376221105 ALPL Health Risk Pathogenic —
RS376222034 CCDC50 Health Risk Conflicting classifications of pathogenicity —
RS376222605 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS376222680 SYP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376223052 AARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 8, Combined oxidative phosphorylation defect type 8
RS376223781 ASH1L Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder, ASH1L-related disorder
RS376223981 ADSS1 Health Risk Likely pathogenic Ovarian serous cystadenocarcinoma, Acute myeloid leukemia
RS376225163 TEK Health Risk Conflicting classifications of pathogenicity Multiple cutaneous and mucosal venous malformations, TEK-related disorder
RS376225756 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
« Prev 1 ... 2759 2760 2761 2762 2763 2764 2765 ... 4509 Next »

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

Get Started Free →