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
RS571733505 SPTB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS571739078 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS571740084 SLC4A1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal renal tubular acidosis, Renal tubular acidosis
RS571742202 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS571742271 LEMD3 Health Risk Conflicting classifications of pathogenicity —
RS571757257 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS571767462 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS571769859 DOK7 Health Risk Likely pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS571792728 TSC2 Health Risk Conflicting classifications of pathogenicity Isolated focal cortical dysplasia type II, Hereditary cancer-predisposing syndrome
RS571797590 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS57179857 ABCC6 Health Risk Conflicting classifications of pathogenicity ABCC6-related disorder, ABCC6-related disorder
RS571799365 MPDZ Health Risk Pathogenic Hydrocephalus, nonsyndromic
RS571800639 PIEZO2 Health Risk Pathogenic —
RS571800995 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS571806809 POLE Health Risk Conflicting classifications of pathogenicity —
RS571809727 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS571810545 TYR Health Risk Pathogenic/Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS571812048 SPINK5 Health Risk Conflicting classifications of pathogenicity Netherton syndrome, Ichthyosis linearis circumflexa
RS571817807 ATP6V1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS571823764 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS571824470 PLOD1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS571831870 NOTCH1 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 1, Adams-Oliver syndrome 5
RS571832030 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Inborn genetic diseases
RS571832933 TPO Health Risk Likely pathogenic —
RS571833399 IDUA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mucopolysaccharidosis type 1
RS571837788 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS571850239 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS571854709 PLEKHG2 Health Risk Conflicting classifications of pathogenicity PLEKHG2-related disorder, PLEKHG2-related disorder
RS571858561 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS571861704 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS571869797 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Benign familial hematuria
RS571871217 CLPB Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria, type VIIB
RS57187183 KRT5 Health Risk Pathogenic Epidermolysis bullosa simplex 2C, localized
RS571875820 CPLANE1 Health Risk Conflicting classifications of pathogenicity —
RS571894941 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS571899254 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS571903706 HBA1 Health Risk Conflicting classifications of pathogenicity —
RS571906190 MYO1A Health Risk Conflicting classifications of pathogenicity —
RS571918997 PIEZO2 Health Risk Likely pathogenic Arthrogryposis, distal
RS571919972 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS571926464 ETV6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS57193077 ALB Health Risk Conflicting classifications of pathogenicity Hyperthyroxinemia, familial dysalbuminemic
RS571932580 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS571935637 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS571938170 EPM2A Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Inborn genetic diseases
RS571940397 CLN6 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS571941412 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS571944290 VPS13C Health Risk Pathogenic —
RS571945132 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS571946670 WFS1 Health Risk Conflicting classifications of pathogenicity —
RS571950296 MFSD8 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 7, Late-infantile neuronal ceroid lipofuscinosis
RS571950456 PKD2 Health Risk Pathogenic —
RS571952564 ENPP1 Health Risk Conflicting classifications of pathogenicity Type 2 diabetes mellitus, Hypopigmentation-punctate palmoplantar keratoderma syndrome
RS571962145 XYLT2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, XYLT2-related disorder
RS571966529 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS571971903 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS571976990 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS571979064 CANT1 Health Risk Conflicting classifications of pathogenicity Desbuquois dysplasia 1, Desbuquois dysplasia 1
RS571981688 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS571985775 RYR2 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction, Catecholaminergic polymorphic ventricular tachycardia 1
RS571986845 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS571986941 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS571997198 SIX1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3
RS571999908 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS572007088 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS572010193 FAT4 Health Risk Conflicting classifications of pathogenicity —
RS572010627 MPZ Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, type I
RS572010910 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS572013653 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS572017658 SLC39A13 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, spondylocheirodysplastic type
RS572018781 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS572020866 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS572021052 PROC Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein C deficiency, autosomal dominant
RS572021323 ADGRG1 Health Risk Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS572028093 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group K
RS572034879 CFH Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 4, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
RS572036022 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS572038196 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS572043133 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS572043246 KAT8 Health Risk Conflicting classifications of pathogenicity Li-Ghorbani-Weisz-Hubshman syndrome, Li-Ghorbani-Weisz-Hubshman syndrome
RS572044496 ALDOB Health Risk Conflicting classifications of pathogenicity Hereditary fructosuria, Hereditary fructosuria
RS572052810 TRIM32 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 11, Sarcotubular myopathy
RS572056540 EVC2 Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS572061488 SPTBN2 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS572063023 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS57207746 LMNA Health Risk Pathogenic/Likely pathogenic Emery-Dreifuss muscular dystrophy 2, autosomal dominant
RS572081330 SH3TC2 Health Risk Conflicting classifications of pathogenicity Susceptibility to mononeuropathy of the median nerve, mild
RS572089064 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS572095826 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS572097661 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS572101154 ABCA3 Health Risk Pathogenic/Likely pathogenic —
RS572102702 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS572110753 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS572115942 PHKG2 Health Risk Conflicting classifications of pathogenicity Mauriac syndrome, Glycogen storage disease IXc
RS572116317 MYO18B Health Risk Likely pathogenic Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
RS572118148 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS572122562 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS572124553 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS572126510 AFF4 Health Risk Conflicting classifications of pathogenicity Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome, Inborn genetic diseases
RS572132215 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
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