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
RS374773455 PLXNB3 Health Risk Conflicting classifications of pathogenicity —
RS374774483 SAG Health Risk Conflicting classifications of pathogenicity —
RS374774816 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, Congenital microvillous atrophy
RS374774989 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS374775005 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS374775605 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Hurler syndrome
RS374776250 TNPO3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1F, TNPO3-related disorder
RS374776444 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Polycystic kidney disease
RS374776968 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS374777494 TK2 Health Risk Likely pathogenic —
RS374778697 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS374779600 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS374780236 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
RS374780430 SLC25A22 Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Inborn genetic diseases
RS374782165 SORL1 Health Risk Conflicting classifications of pathogenicity —
RS374782327 TGM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374783099 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS374783170 DLL4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DLL4-related disorder
RS3747833 TRIM32 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 11
RS3747834 TRIM32 Health Risk Conflicting classifications of pathogenicity Sarcotubular myopathy, Bardet-Biedl syndrome
RS3747835 TRIM32 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 11, Bardet-Biedl syndrome
RS374784209 MMAA Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblA type
RS374787000 COL4A3 Health Risk Likely pathogenic —
RS374787755 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, ELP1-related disorder
RS374787771 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS374788113 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS374790646 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS374791168 ERCC6 Health Risk Conflicting classifications of pathogenicity Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
RS374791576 UNC80 Health Risk Conflicting classifications of pathogenicity Hypotonia, infantile
RS374793201 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS374793617 TMPRSS3 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Hearing loss
RS374794960 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Inborn genetic diseases
RS374795477 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS374795810 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS374796686 CHMP2B Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
RS374797859 CDH23 Health Risk Pathogenic/Likely pathogenic Pituitary adenoma 5, multiple types
RS374799169 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS374799616 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS374799651 MYH3 Health Risk Conflicting classifications of pathogenicity Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1
RS374801637 PRPF6 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS374801798 MMP2 Health Risk Conflicting classifications of pathogenicity Multicentric osteolysis nodulosis arthropathy spectrum, Multicentric osteolysis nodulosis arthropathy spectrum
RS374802008 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS374802057 PDGFRB Health Risk Conflicting classifications of pathogenicity Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome, Basal ganglia calcification
RS374802138 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374802298 H6PD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374802332 VWF Health Risk Conflicting classifications of pathogenicity —
RS374802787 MMAB Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
RS374803743 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8
RS374805003 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS374805072 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374805348 PDE6C Health Risk Pathogenic/Likely pathogenic Cone dystrophy 4, Cone dystrophy 4
RS374806849 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS374807145 KAT6A Health Risk Conflicting classifications of pathogenicity Intellectual disability, Inborn genetic diseases
RS374807397 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS374807892 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS374807974 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS374808967 MYO5B Health Risk Likely pathogenic —
RS374810953 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS374811215 GYPB Health Risk association BLOOD GROUP, Ss
RS374811709 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, ABCA4-related disorder
RS374813758 RERE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neurodevelopmental disorder with or without anomalies of the brain
RS374814563 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Medulloblastoma
RS374815480 UBR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374815903 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Benign familial hematuria
RS374817147 ALG9 Health Risk Conflicting classifications of pathogenicity ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
RS374818694 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS374819009 KIAA1549 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374819268 ROGDI Health Risk Conflicting classifications of pathogenicity Amelocerebrohypohidrotic syndrome, Inborn genetic diseases
RS374820261 ABCG8 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ABCG8-related disorder
RS374821228 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS374821442 WAC Health Risk Conflicting classifications of pathogenicity DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
RS374821619 RD3 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 12, Leber congenital amaurosis 12
RS374823079 MFRP Health Risk Pathogenic/Likely pathogenic Nanophthalmia, Isolated microphthalmia 5
RS374824835 CEP104 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Joubert syndrome 25
RS374825491 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS374825937 NDUFAF3 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS374826041 TRAPPC9 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 13
RS374826188 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS374826826 ATP1A3 Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Dystonia 12
RS3748278 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS374829012 MLC1 Health Risk Conflicting classifications of pathogenicity Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts
RS374829524 NIPAL4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6
RS374830118 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS374831450 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS374833797 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS374836052 RINT1 Health Risk Conflicting classifications of pathogenicity Infantile liver failure syndrome 3, Infantile liver failure syndrome 3
RS374836404 C12orf57 Health Risk Likely pathogenic Temtamy syndrome, Temtamy syndrome
RS374836502 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS374836619 CIB2 Health Risk Conflicting classifications of pathogenicity —
RS374836770 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group C, Fanconi anemia complementation group A
RS374840025 HADHB Health Risk Conflicting classifications of pathogenicity Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS374840260 MYH9 Health Risk Conflicting classifications of pathogenicity —
RS374840361 MSH2 Health Risk Pathogenic Ovarian cancer, Hereditary cancer-predisposing syndrome
RS374840594 ADAMTS13 Health Risk Likely pathogenic Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS374841593 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS374841625 GYS2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency
RS374842275 SLC5A5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374843101 RP1L1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Retinal dystrophy
RS374843302 CAPN5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374843706 COL9A1 Health Risk Pathogenic/Likely pathogenic COL9A1-related disorder, COL9A1-related disorder
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