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
RS748454316 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS748454609 PRICKLE1 Health Risk Conflicting classifications of pathogenicity Epilepsy, progressive myoclonic
RS748454643 IFT43 Health Risk Pathogenic —
RS748455192 CDH3 Health Risk Conflicting classifications of pathogenicity EEM syndrome, EEM syndrome
RS748455430 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS748455832 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS74845752 SLC6A4 Health Risk Conflicting classifications of pathogenicity Behavior disorder, Behavior disorder
RS748457992 AR Health Risk Conflicting classifications of pathogenicity Androgen resistance syndrome, Kennedy disease
RS748458910 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Familial dysautonomia
RS748459210 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS748459670 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Stickler syndrome
RS748460226 HESX1 Health Risk Pathogenic Septo-optic dysplasia sequence, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES
RS748461293 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS748464075 C9 Health Risk Pathogenic —
RS748464182 FREM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, FREM1-related disorder
RS748464757 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS74846539 SGCD Health Risk Conflicting classifications of pathogenicity Qualitative or quantitative defects of delta-sarcoglycan, Cardiomyopathy
RS748465849 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome, Usher syndrome type 2A
RS748466015 COL7A1 Health Risk Conflicting classifications of pathogenicity —
RS748466861 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Charcot-Marie-Tooth disease axonal type 2O
RS748467821 SRCAP Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Developmental delay
RS748468302 MMP13 Health Risk Pathogenic/Likely pathogenic Metaphyseal anadysplasia 1, autosomal dominant
RS748468371 COX15 Health Risk Pathogenic —
RS748468831 ENPP1 Health Risk Conflicting classifications of pathogenicity Arterial calcification, generalized
RS748470273 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases
RS748471297 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS748471791 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Inborn genetic diseases
RS748471942 CEP290 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Nephronophthisis
RS748473096 TBXAS1 Health Risk Pathogenic —
RS748473278 COL4A4 Health Risk Pathogenic Autosomal recessive Alport syndrome, Hematuria
RS748475674 ABRAXAS1 Health Risk Conflicting classifications of pathogenicity —
RS748475714 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS748475805 TYK2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS748475864 PROM1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Inborn genetic diseases
RS748476974 TWIST1 Health Risk Pathogenic/Likely pathogenic Sweeney-Cox syndrome, Saethre-Chotzen syndrome
RS748477031 KIF1A Health Risk Pathogenic Hereditary spastic paraplegia 30, Neuropathy
RS748477839 GANAB Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 3 with or without polycystic liver disease, Inborn genetic diseases
RS748478445 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy
RS748478593 PRPH2 Health Risk Likely pathogenic Vitelliform macular dystrophy 3, Vitelliform macular dystrophy 3
RS748479655 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS748480363 DMXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748480664 CYP7B1 Health Risk Pathogenic Spastic paraplegia, Hereditary spastic paraplegia
RS748480687 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS748484883 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS748487419 ABCA4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Retinal dystrophy
RS748487774 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Craniosynostosis syndrome, Ectopia lentis 2
RS748488870 CARD10 Health Risk Pathogenic Immunodeficiency 89 and autoimmunity, Immunodeficiency 89 and autoimmunity
RS748491031 EGFR Health Risk Pathogenic EGFR-related lung cancer, EGFR-related lung cancer
RS748491132 SCN1B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 5, Brugada syndrome 5
RS748491825 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS748492214 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS748494624 MASP1 Health Risk Likely pathogenic —
RS748495327 TBCE Health Risk Conflicting classifications of pathogenicity Hypoparathyroidism-retardation-dysmorphism syndrome, Hypoparathyroidism-retardation-dysmorphism syndrome
RS748495610 SETD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Inborn genetic diseases
RS748496499 DNAL1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 16, Primary ciliary dyskinesia 16
RS748497823 ST3GAL5 Health Risk Pathogenic GM3 synthase deficiency, GM3 synthase deficiency
RS748497834 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS748499180 RAG1 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS748500676 MPV17 Health Risk Likely pathogenic Uterine corpus endometrial carcinoma, Uterine corpus endometrial carcinoma
RS748500860 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS748501516 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS748501800 SPTBN1 Health Risk Pathogenic/Likely pathogenic Developmental delay, impaired speech
RS748501827 VPS13C Health Risk Likely pathogenic —
RS748502176 CUX2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hypertrophic cardiomyopathy
RS748503586 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS748504264 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS748504948 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS748505119 CIITA Health Risk Likely pathogenic MHC class II deficiency, MHC class II deficiency
RS748505216 PMPCB Health Risk Likely pathogenic Multiple mitochondrial dysfunctions syndrome 6, Multiple mitochondrial dysfunctions syndrome 6
RS748505843 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS748506175 PNPLA6 Health Risk Conflicting classifications of pathogenicity Ataxia-hypogonadism-choroidal dystrophy syndrome, Hereditary spastic paraplegia 39
RS748506439 NAA60 Health Risk Pathogenic Basal ganglia calcification, idiopathic
RS748506953 SALL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748507521 DNAH8 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS748508287 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS748508322 LARGE1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy type B6
RS748508725 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS748510210 TMEM237 Health Risk Pathogenic Joubert syndrome 14, Joubert syndrome 14
RS748510599 KIF14 Health Risk Pathogenic —
RS748510736 NLRC4 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome
RS748511141 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS748511475 TUBGCP6 Health Risk Pathogenic —
RS748511528 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Type 2 collagenopathy
RS748512916 ARID1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748513242 GCM2 Health Risk Pathogenic Inborn genetic diseases, Hypoparathyroidism
RS748513310 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS748513464 ADCY10 Health Risk Conflicting classifications of pathogenicity —
RS748514374 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS748514860 TTC21B Health Risk Pathogenic Asphyxiating thoracic dystrophy 4, Nephronophthisis 12
RS748515167 BMPR1A Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS748515506 IL2RA Health Risk Conflicting classifications of pathogenicity Type 1 diabetes mellitus 10, Immunodeficiency due to CD25 deficiency
RS748516187 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS748516947 MYH11;NDE1 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS748517635 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, SCN4A-related non-dystrophic myotonia
RS748518694 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS748519030 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS748519147 PYGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type VI
RS748521267 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS748522054 AMT Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS748522633 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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