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
RS377366300 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS377366418 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS377367461 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377367586 SAMD11 Health Risk Conflicting classifications of pathogenicity —
RS377367981 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS377368156 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377368177 TRDN Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS377368442 HPS3 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS377368588 LOXHD1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 77, Inborn genetic diseases
RS377369610 CLN3 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3
RS377369857 FRAS1 Health Risk Pathogenic Fraser syndrome 1, FRAS1-related disorder
RS377370089 BEST1 Health Risk Likely pathogenic —
RS377370918 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377371473 LAMB3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS377371591 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS377372480 POMT1 Health Risk Conflicting classifications of pathogenicity POMT1-related congenital myopathy, POMT1-related congenital myopathy
RS377372888 PIKFYVE Health Risk Conflicting classifications of pathogenicity Fleck corneal dystrophy, Fleck corneal dystrophy
RS377372901 DISP2 Health Risk Conflicting classifications of pathogenicity —
RS377374469 NPHS2 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2
RS377374761 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS377375638 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS377376395 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS377377367 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS377378051 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, 3M syndrome 2
RS377378925 OTOF Health Risk Conflicting classifications of pathogenicity —
RS377381100 GPC3 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1
RS377382567 TET2 Health Risk Likely pathogenic —
RS377383606 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Inborn genetic diseases
RS377383740 SLC6A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Epilepsy with myoclonic atonic seizures
RS377384219 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS377384434 ADAMTSL4 Health Risk Pathogenic —
RS377384557 ABCC9 Health Risk Conflicting classifications of pathogenicity Hypertrichotic osteochondrodysplasia Cantu type, Dilated cardiomyopathy 1O
RS377384792 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS377385081 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS377386207 OSBP2 Health Risk Conflicting classifications of pathogenicity —
RS377386505 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8
RS377387515 ZNF292 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS377387902 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS377388291 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377388499 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS377388669 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, MYO7A-related disorder
RS377389081 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS377389267 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS377389290 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Inborn genetic diseases
RS377389861 MYPN Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Dilated cardiomyopathy 1KK
RS377390031 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS377390914 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS377391143 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS377391406 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS377391723 ERCC3 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum group B, Xeroderma pigmentosum group B
RS377392290 SZT2 Health Risk Pathogenic —
RS377392348 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS377392943 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS377393052 EVC2 Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS377393842 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS377397369 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS377399080 KRT4 Health Risk Conflicting classifications of pathogenicity White sponge nevus 1, Inborn genetic diseases
RS377399732 MYH14 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377400638 MCPH1 Health Risk Conflicting classifications of pathogenicity —
RS377401016 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS377401997 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS377402117 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Nephronophthisis 8, Joubert syndrome 7
RS377402848 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS377403073 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS377403883 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS377404952 CTNNA3 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 13, CTNNA3-related disorder
RS377405677 ABCC8 Health Risk Likely pathogenic Leucine-induced hypoglycemia, Diabetes mellitus
RS377405910 MMACHC Health Risk Conflicting classifications of pathogenicity Cobalamin C disease, Cobalamin C disease
RS377406711 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS377406897 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS377408189 PRDM13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377408813 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377410503 MYH11 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Aortic aneurysm
RS377411211 SH3BP2 Health Risk Conflicting classifications of pathogenicity Fibrous dysplasia of jaw, Inborn genetic diseases
RS377411318 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS377412251 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS377412567 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS377414980 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS377416092 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS377416669 RHBDF2 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma-esophageal carcinoma syndrome, Palmoplantar keratoderma-esophageal carcinoma syndrome
RS377416834 WNT10A Health Risk Pathogenic Odonto-onycho-dermal dysplasia, Tooth agenesis
RS377417974 FKTN Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS377419542 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS377419930 MPI Health Risk Conflicting classifications of pathogenicity MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS377420237 KMT2B Health Risk Conflicting classifications of pathogenicity —
RS377421427 TNNI3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS377423130 BCKDK Health Risk Likely pathogenic Branched-chain keto acid dehydrogenase kinase deficiency, Branched-chain keto acid dehydrogenase kinase deficiency
RS377423720 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS377424162 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS377424990 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
RS377425803 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS377426710 DUOXA2 Health Risk Likely pathogenic Thyroglobulin synthesis defect, Thyroglobulin synthesis defect
RS377427003 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS377428273 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS377428323 SBF1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease type 4B3
RS377428336 NR0B1 Health Risk Conflicting classifications of pathogenicity Congenital adrenal hypoplasia, X-linked
RS377428995 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, ITGB4-related disorder
RS377429190 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS377429197 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS377429225 RAD50 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
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