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
RS372696694 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS372698989 NTHL1 Health Risk Pathogenic —
RS372699223 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Inborn genetic diseases
RS372699306 LCAT Health Risk Conflicting classifications of pathogenicity LCAT deficiency, Cardiovascular phenotype
RS372699411 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS372699832 NPAT Health Risk Conflicting classifications of pathogenicity NPAT-related disorder, NPAT-related disorder
RS372700740 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS372701032 TMCO1 Health Risk Pathogenic Craniofacial dysmorphism, skeletal anomalies
RS372701206 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS372701360 ACOX1 Health Risk Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS372702131 DLL3 Health Risk Conflicting classifications of pathogenicity Spondylocostal dysostosis 1, autosomal recessive
RS372702466 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS372702492 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with fiber type disproportion, Congenital multicore myopathy with external ophthalmoplegia
RS372705263 NBEAL2 Health Risk Conflicting classifications of pathogenicity Gray platelet syndrome, Gray platelet syndrome
RS372705506 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS372707781 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS372708324 CUX1 Health Risk Pathogenic/Likely pathogenic Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development
RS372709792 DNAH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372710475 TMC1 Health Risk Conflicting classifications of pathogenicity Rare genetic deafness, Hearing loss
RS372710498 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 8, Inborn genetic diseases
RS372711844 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis Imperfecta, Recessive
RS372712109 SRCAP Health Risk Conflicting classifications of pathogenicity Developmental delay, hypotonia
RS372712521 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS372713647 OTOF Health Risk Conflicting classifications of pathogenicity —
RS372713895 GSN Health Risk Conflicting classifications of pathogenicity Finnish type amyloidosis, Inborn genetic diseases
RS372715292 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS372715546 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS372716177 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS372716250 ETV6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372716583 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS372716916 PPP2R1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372717647 EMC1 Health Risk Pathogenic/Likely pathogenic Cerebellar atrophy, visual impairment
RS372717861 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS372717953 TTC19 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex III deficiency nuclear type 2, Inborn genetic diseases
RS372718805 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS372719040 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS372720472 TUBB3 Health Risk Conflicting classifications of pathogenicity —
RS372721717 RP1L1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Retinal dystrophy
RS372722891 RANBP2 Health Risk Conflicting classifications of pathogenicity Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
RS372723292 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS372725563 GFPT1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12
RS372725624 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS372726521 FLNB Health Risk Conflicting classifications of pathogenicity —
RS372728084 FLVCR1 Health Risk Pathogenic/Likely pathogenic Posterior column ataxia-retinitis pigmentosa syndrome, Posterior column ataxia-retinitis pigmentosa syndrome
RS372729831 FLNA Health Risk Conflicting classifications of pathogenicity Sudden unexplained death in childhood, Oto-palato-digital syndrome
RS372730081 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS372730488 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS372730542 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS372732220 GNE Health Risk Conflicting classifications of pathogenicity GNE myopathy, Sialuria
RS372732702 MTFMT Health Risk Conflicting classifications of pathogenicity —
RS372733227 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS372733273 SPTB Health Risk Conflicting classifications of pathogenicity Familial hemolytic anemia, Familial hemolytic anemia
RS372733766 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS372734645 CARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 27, Inborn genetic diseases
RS372735218 ADGRG6 Health Risk Conflicting classifications of pathogenicity —
RS372735676 FBXL4 Health Risk Pathogenic —
RS372736855 PPP1R12A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372737420 PDSS2 Health Risk Conflicting classifications of pathogenicity Coenzyme Q10 deficiency, primary
RS372739350 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS372739455 CCM2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372739641 NEDD4L Health Risk Conflicting classifications of pathogenicity —
RS372739944 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Uterine corpus endometrial carcinoma
RS372740215 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS372740284 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS372740330 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS372740784 MYH8 Health Risk Conflicting classifications of pathogenicity —
RS372740903 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Polysyndactyly 4
RS372740994 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Intellectual disability
RS372742479 GABRA1 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS372743728 DSPP Health Risk Conflicting classifications of pathogenicity —
RS372744173 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS372744369 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS372745389 CEP152 Health Risk Likely pathogenic Microcephaly 9, primary
RS372746686 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS372747855 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS372748052 KCNJ1 Health Risk Likely pathogenic —
RS372748482 IGF1R Health Risk Conflicting classifications of pathogenicity Growth delay due to insulin-like growth factor I resistance, IGF1R-related disorder
RS372748919 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, Inborn genetic diseases
RS372748927 NEFL Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Inborn genetic diseases
RS372749193 DMXL2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 81
RS372749240 SCN1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS372749388 CEP164 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 15, Nephronophthisis 15
RS372750076 HTRA1 Health Risk Conflicting classifications of pathogenicity CARASIL syndrome, CARASIL syndrome
RS372750171 COL4A1 Health Risk Conflicting classifications of pathogenicity HANAC-like syndrome, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
RS372750330 EXT1 Health Risk Conflicting classifications of pathogenicity Chondrosarcoma, Multiple congenital exostosis
RS372750707 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS372751467 DOCK6 Health Risk Pathogenic/Likely pathogenic Adams-Oliver syndrome 1, DOCK6-related disorder
RS372751531 TPM2 Health Risk Conflicting classifications of pathogenicity Arthrogryposis, distal
RS372751663 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder
RS372753711 PUS1 Health Risk Conflicting classifications of pathogenicity —
RS372753740 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS372754098 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS372754256 FLG Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Ichthyosis vulgaris
RS372754279 CAV3 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS372754364 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS372754806 SMG9 Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS372755739 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, 6 conditions
RS372755874 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS372755956 DNAH17 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372756514 WNT10A Health Risk Conflicting classifications of pathogenicity Schöpf-Schulz-Passarge syndrome, Odonto-onycho-dermal dysplasia
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