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
RS577894144 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS577902897 LARS1 Health Risk Conflicting classifications of pathogenicity —
RS577913880 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ZNF469-related disorder
RS577915245 RAB3GAP1 Health Risk Conflicting classifications of pathogenicity RAB3GAP1-related disorder, Inborn genetic diseases
RS577915581 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS577919981 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS577921112 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS577922766 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, Inborn genetic diseases
RS577929869 RET Health Risk Pathogenic Multiple endocrine neoplasia, type 2
RS577932201 RPGRIP1 Health Risk Pathogenic Retinal dystrophy, Leber congenital amaurosis 6
RS577932894 LRP5 Health Risk Likely pathogenic —
RS577934998 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS577936545 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS577938494 USH2A Health Risk Conflicting classifications of pathogenicity Rare genetic deafness, Usher syndrome
RS577939684 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS577940601 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS577945739 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases
RS577952179 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS577954688 HADH Health Risk Uncertain significance/Uncertain risk allele Hyperinsulinemic hypoglycemia, familial
RS577957158 NBEAL2 Health Risk Conflicting classifications of pathogenicity Gray platelet syndrome, Inborn genetic diseases
RS577958629 TSEN54 Health Risk Conflicting classifications of pathogenicity —
RS577964890 NKX6-2 Health Risk Conflicting classifications of pathogenicity —
RS577968084 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 2, Transient Neonatal Diabetes
RS577969558 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS57797061 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS577972555 DST Health Risk Pathogenic Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS577973228 RIN2 Health Risk Conflicting classifications of pathogenicity —
RS577979265 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS577983461 MAPKBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS577991475 TNRC18 Health Risk Conflicting classifications of pathogenicity Ovarian serous cystadenocarcinoma, Thyroid cancer
RS578012528 THOC6 Health Risk Pathogenic THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
RS578013785 VDR Health Risk Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
RS578014563 DUOX2 Health Risk Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS578020342 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS57802288 KRT83 Health Risk Likely pathogenic Monilethrix-3, Monilethrix
RS578023308 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS578023593 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS578024729 TRDN Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 5, Cardiovascular phenotype
RS578030952 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS578033982 PACS1 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases
RS578048957 ALDOB Health Risk Conflicting classifications of pathogenicity Hereditary fructosuria, Hereditary fructosuria
RS578056399 SGCD Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2F, Cardiomyopathy
RS578069093 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS578073937 GPIHBP1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS578085621 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS578086869 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS578091032 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS578091934 RMRP Health Risk Conflicting classifications of pathogenicity Anauxetic dysplasia, RMRP-related disorder
RS578092914 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, PRF1-related disorder
RS578095133 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS578102641 MFSD8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS578112440 TNFRSF1A Health Risk Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS), TNF receptor-associated periodic fever syndrome (TRAPS)
RS578113271 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS578116271 C3 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Complement component 3 deficiency
RS578118592 VARS2 Health Risk Pathogenic/Likely pathogenic —
RS578127995 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS578128759 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS578137786 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS578140620 FAT4 Health Risk Conflicting classifications of pathogenicity —
RS578141234 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS578153138 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS578156841 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS578166707 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS578166720 MYH7 Health Risk Conflicting classifications of pathogenicity MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy
RS578184315 FLG Health Risk Pathogenic/Likely pathogenic Ichthyosis vulgaris, Dermatitis
RS578185749 DEPDC5 Health Risk Pathogenic Epilepsy, familial focal
RS578187010 ZFP57 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS578189296 ADAM17 Health Risk Conflicting classifications of pathogenicity Inflammatory skin and bowel disease, neonatal
RS578189699 COQ8A Health Risk Likely pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS578191306 DES Health Risk Conflicting classifications of pathogenicity Neurogenic scapuloperoneal syndrome, Kaeser type
RS578191491 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Myopathy
RS578193315 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS578199793 POMT1 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS578202936 COL18A1 Health Risk Conflicting classifications of pathogenicity —
RS578204135 LTBP4 Health Risk Conflicting classifications of pathogenicity Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
RS578205635 SLC35A1 Health Risk Pathogenic/Likely pathogenic SLC35A1-congenital disorder of glycosylation, SLC35A1-congenital disorder of glycosylation
RS578207030 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS578214371 COQ9 Health Risk Conflicting classifications of pathogenicity Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
RS578218280 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS578222814 PIDD1 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder, autosomal recessive 75
RS578226820 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS578228721 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS578233776 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS578234038 CFAP74 Health Risk Likely pathogenic Ciliary dyskinesia, primary
RS578239628 MYF6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant centronuclear myopathy, Autosomal dominant centronuclear myopathy
RS578245415 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS578245757 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS57830985 LMNA Health Risk Conflicting classifications of pathogenicity Familial partial lipodystrophy, Dunnigan type
RS57837128 KRT1 Health Risk Pathogenic/Likely pathogenic Annular epidermolytic ichthyosis, Ichthyosis
RS57845028 KRT5 Health Risk Likely pathogenic —
RS57848467 NEFL Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, dominant intermediate G
RS57872071 KRT3 Health Risk Pathogenic Corneal dystrophy, Meesmann
RS57890479 KRT5 Health Risk Pathogenic Epidermolysis bullosa simplex 2A, generalized severe
RS57901307 LMNA Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS57920071 LMNA Health Risk Pathogenic/Likely pathogenic Familial partial lipodystrophy, Dunnigan type
RS57932685 TMEM216 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 2
RS57946868 GJA1 Health Risk Conflicting classifications of pathogenicity Syndactyly type 3, Oculodentodigital dysplasia
RS57955682 DES Health Risk Likely pathogenic Desmin-related myofibrillar myopathy, Limb-girdle muscular dystrophy
RS57959072 KRT1 Health Risk Pathogenic Epidermolytic ichthyosis, Epidermolytic ichthyosis
RS57965306 DES Health Risk Pathogenic Neurogenic scapuloperoneal syndrome, Kaeser type
« Prev 1 ... 2983 2984 2985 2986 2987 2988 2989 ... 4509 Next »

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

Get Started Free →