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
RS756574089 HDAC4 Health Risk Likely pathogenic —
RS756575126 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 5
RS756575234 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS756575833 GLB1 Health Risk Likely pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
RS756575861 KIAA1549 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756581500 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS756581886 GLI3 Health Risk Conflicting classifications of pathogenicity Polydactyly, Greig cephalopolysyndactyly syndrome
RS756582306 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, Inborn genetic diseases
RS756582449 SLITRK3 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS756582576 COL4A6 Health Risk Conflicting classifications of pathogenicity COL4A6-related disorder, COL4A6-related disorder
RS756584594 TCOF1 Health Risk Conflicting classifications of pathogenicity TCOF1-related disorder, Treacher Collins syndrome 1
RS756585755 PJVK Health Risk Pathogenic —
RS756586058 FGD1 Health Risk Pathogenic/Likely pathogenic Aarskog syndrome, FGD1-related disorder
RS756587349 LAMC3 Health Risk Likely pathogenic —
RS756587384 ACADSB Health Risk Pathogenic/Likely pathogenic Deficiency of 2-methylbutyryl-CoA dehydrogenase, See cases
RS756588136 COL4A1 Health Risk Conflicting classifications of pathogenicity —
RS756589820 COQ8A Health Risk Pathogenic —
RS756590256 FANCL Health Risk Likely pathogenic Fanconi anemia complementation group L, Fanconi anemia complementation group L
RS756590471 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS756591718 PNPLA6 Health Risk Pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS756592483 PHKB Health Risk Pathogenic PHKB-related disorder, PHKB-related disorder
RS756593088 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS756594069 ARHGEF10 Health Risk Conflicting classifications of pathogenicity —
RS756594449 ACTC1 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS756595568 ADNP Health Risk Conflicting classifications of pathogenicity ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS756597098 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS756597120 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS756597598 GJB6 Health Risk Conflicting classifications of pathogenicity Hidrotic ectodermal dysplasia syndrome, Autosomal dominant nonsyndromic hearing loss 3B
RS756599740 SALL1 Health Risk Conflicting classifications of pathogenicity Townes syndrome, Townes syndrome
RS756599931 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS756600903 TRMU Health Risk Likely pathogenic Aminoglycoside-induced deafness, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS756601658 AP3D1 Health Risk Conflicting classifications of pathogenicity AP3D1-related disorder, AP3D1-related disorder
RS756602466 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 15, Primary ciliary dyskinesia
RS756602672 RNF170 Health Risk Conflicting classifications of pathogenicity Autosomal dominant sensory ataxia 1, Spastic paraplegia 85
RS756604268 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS756604557 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS756605558 FLG Health Risk Pathogenic —
RS756605964 ROBO1 Health Risk Conflicting classifications of pathogenicity —
RS756606180 ALG1 Health Risk Likely pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS756606586 SH3BP2 Health Risk Conflicting classifications of pathogenicity Fibrous dysplasia of jaw, Inborn genetic diseases
RS756606635 STRC Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 16, Autosomal recessive nonsyndromic hearing loss 16
RS756607245 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS756607591 HSD3B2 Health Risk Pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency, Congenital adrenal hyperplasia
RS756607995 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS756608508 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS756609752 PGAP1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal recessive 42
RS756609768 KCNQ2 Health Risk Conflicting classifications of pathogenicity Complex neurodevelopmental disorder, Early-infantile DEE
RS756610221 TTN Health Risk Conflicting classifications of pathogenicity —
RS756611351 SZT2 Health Risk Pathogenic —
RS756611519 DCTN1 Health Risk Conflicting classifications of pathogenicity Perry syndrome, Neuronopathy
RS756611897 HPS3 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS756612643 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS756613387 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS756614404 DNAJB2 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS756614581 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS756614749 CUBN Health Risk Pathogenic/Likely pathogenic Proteinuria, chronic benign
RS756614796 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS756615692 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS756615930 ZC4H2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756616242 KDM5B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS756616538 DNAH8 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS756616712 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS756616792 DNAJC19 Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria type 5, 3-methylglutaconic aciduria type 5
RS756617788 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS756618692 EIF2AK3 Health Risk Conflicting classifications of pathogenicity EIF2AK3-related disorder, Inborn genetic diseases
RS756621896 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS756622196 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS756622578 ASPM Health Risk Conflicting classifications of pathogenicity —
RS756623054 RAI1 Health Risk Conflicting classifications of pathogenicity RAI1-related disorder, RAI1-related disorder
RS756623509 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS756623639 ABCA4 Health Risk Pathogenic —
RS756623659 AGRN Health Risk Likely pathogenic Congenital myasthenic syndrome, Congenital myasthenic syndrome 8
RS756624928 TERT Health Risk Conflicting classifications of pathogenicity 7 conditions, Idiopathic Pulmonary Fibrosis
RS756625074 SZT2 Health Risk Likely pathogenic —
RS756626190 FLG Health Risk Pathogenic —
RS756626295 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS756630156 ERCC2 Health Risk Pathogenic Trichothiodystrophy 1, photosensitive
RS756630815 AKR1D1 Health Risk Conflicting classifications of pathogenicity —
RS756631085 IGF2R Health Risk Likely pathogenic Premature ovarian failure, Premature ovarian failure
RS756632286 G6PC1 Health Risk Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS756632517 BBS10 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Bardet-Biedl syndrome
RS756632601 NDUFS1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS756632688 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Polyps
RS756632799 PIGT Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3
RS756632960 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS756635283 SIX2 Health Risk Likely pathogenic —
RS756636036 ROBO4 Health Risk risk factor Congenital diaphragmatic hernia, Congenital diaphragmatic hernia
RS756636650 CASQ2 Health Risk Pathogenic/Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 2
RS756637497 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 3, Joubert syndrome
RS756637706 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS756638436 NHP2 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Dyskeratosis congenita
RS756638660 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS756639505 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS756639595 HIVEP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756639609 QDPR Health Risk Pathogenic/Likely pathogenic Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS756640084 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS756640163 A2ML1 Health Risk Conflicting classifications of pathogenicity Otitis media, susceptibility to
RS756641209 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS756641324 KIF22 Health Risk Conflicting classifications of pathogenicity —
RS756642176 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
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