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
RS760423996 ACADSB Health Risk Conflicting classifications of pathogenicity Deficiency of 2-methylbutyryl-CoA dehydrogenase, Clear cell carcinoma of kidney
RS760424025 STUB1 Health Risk Likely pathogenic Autosomal recessive spinocerebellar ataxia 16, Spinocerebellar ataxia 48
RS760424301 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS760425899 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS760426025 TMEM231 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 11
RS760426665 RGR Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS760426736 AFF4 Health Risk Conflicting classifications of pathogenicity Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome, AFF4-related disorder
RS760426769 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS760428119 ALOX12B Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS760428308 CACNA1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Episodic ataxia type 2
RS760428437 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS760429286 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Lamellar ichthyosis
RS760429732 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Inborn genetic diseases
RS760430056 CNGB1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa
RS760431541 SPEN Health Risk Conflicting classifications of pathogenicity See cases, Inborn genetic diseases
RS760432217 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS760433367 DSP Health Risk Conflicting classifications of pathogenicity Lethal acantholytic epidermolysis bullosa, Arrhythmogenic right ventricular dysplasia 8
RS760433806 AMPD2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 9, Pontoneocerebellar hypoplasia
RS760434412 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS760436036 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS760437173 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS760438511 SLC25A22 Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Early-infantile DEE
RS760440073 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS760440581 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Congenital ichthyosis of skin
RS760440966 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS760441649 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS760442721 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS760443264 DYSF Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS760445518 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS760445854 MYH14 Health Risk Conflicting classifications of pathogenicity Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome, Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
RS760446904 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS760447338 TRIP4 Health Risk Likely pathogenic —
RS760448302 RAG1 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS760448993 HNF1B Health Risk Conflicting classifications of pathogenicity HNF1B-related disorder, Type 2 diabetes mellitus
RS760451045 CUL7 Health Risk Conflicting classifications of pathogenicity —
RS760451348 MYORG Health Risk Pathogenic Basal ganglia calcification, idiopathic
RS760451762 LAMB2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis, LAMB2-related disorder
RS760452079 RPIA Health Risk Pathogenic Deficiency of ribose-5-phosphate isomerase, Inborn genetic diseases
RS760452532 SLC7A9 Health Risk Pathogenic Cystinuria, Cystinuria
RS760452661 HPS6 Health Risk Pathogenic Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
RS760452917 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS760453324 P4HTM Health Risk Pathogenic —
RS760454261 DOCK6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760454961 PDHX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760455133 TMEM231 Health Risk Pathogenic Joubert syndrome 20, Meckel syndrome
RS760455624 ICOSLG Health Risk Conflicting classifications of pathogenicity —
RS760455927 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS760457821 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS760458744 MC1R Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS760459672 EVC2 Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS760459724 SLC12A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 34
RS760460054 COL7A1 Health Risk Pathogenic Transient bullous dermolysis of the newborn, Recessive dystrophic epidermolysis bullosa
RS760461056 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS760461822 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS760461823 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS760462179 CUL7 Health Risk Conflicting classifications of pathogenicity —
RS760462252 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS760462654 COL4A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Brain small vessel disease 1 with or without ocular anomalies
RS760466007 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS760467197 TTN Health Risk Conflicting classifications of pathogenicity —
RS760470297 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS760470520 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS760471578 WHRN Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D
RS760471706 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS760472019 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS760472969 C8B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760473402 SCLT1 Health Risk Pathogenic —
RS760474458 TBC1D24 Health Risk Pathogenic/Likely pathogenic DOORS syndrome, Developmental and epileptic encephalopathy
RS760476125 COL27A1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS760477475 IMPG2 Health Risk Pathogenic —
RS760477654 LINS1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 27
RS760478436 RP1L1 Health Risk Likely pathogenic Retinitis pigmentosa 88, Retinitis pigmentosa 88
RS760479588 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS760479868 WDFY3 Health Risk Conflicting classifications of pathogenicity Microcephaly 18, primary
RS760480600 FDXR Health Risk Likely pathogenic —
RS760481450 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS760481743 MYH14 Health Risk Conflicting classifications of pathogenicity —
RS760482209 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS760482527 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS760482912 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS760482922 LDB3 Health Risk Likely pathogenic Cardiovascular phenotype, Myofibrillar myopathy 4
RS760483684 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS760484081 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS760484787 CEP78 Health Risk Pathogenic Cone-rod dystrophy and hearing loss 1, Cone-rod dystrophy and hearing loss 1
RS760485028 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS760485585 BCHE Health Risk Pathogenic/Likely pathogenic Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS76048624 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS760486899 ADNP Health Risk Conflicting classifications of pathogenicity —
RS760487161 LAMA3 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa, Epidermolysis bullosa
RS760487688 TTN Health Risk Likely pathogenic 6 conditions, Cardiovascular phenotype
RS76048775 IMPG2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS760487849 HK1 Health Risk Pathogenic Neurodevelopmental disorder with visual defects and brain anomalies, Neurodevelopmental disorder with visual defects and brain anomalies
RS760488689 BAAT Health Risk Conflicting classifications of pathogenicity —
RS760488958 INF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate E
RS760489144 IL36RN Health Risk Conflicting classifications of pathogenicity Generalized pustular psoriasis, Autoinflammatory syndrome
RS760489473 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS760489717 ADCY7 Health Risk Conflicting classifications of pathogenicity —
RS760489970 GJB2 Health Risk Likely pathogenic nonsyndromic sensorineural hearing loss, Autosomal recessive nonsyndromic hearing loss 1A
RS760490431 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS760490445 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
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