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
RS369196744 MYH11 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Aortic aneurysm
RS369197590 PEPD Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS369198471 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS369198557 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brittle cornea syndrome 1
RS369199804 PCSK1 Health Risk Conflicting classifications of pathogenicity Obesity due to prohormone convertase I deficiency, Obesity due to prohormone convertase I deficiency
RS369201060 SLC25A15 Health Risk Conflicting classifications of pathogenicity Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS369201077 NME8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 6, Primary ciliary dyskinesia
RS369201767 ROR2 Health Risk Conflicting classifications of pathogenicity Brachydactyly type B1, Autosomal recessive Robinow syndrome
RS369202854 ENG Health Risk Pathogenic Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia
RS369204500 CPLANE1 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome type 6, Joubert syndrome 17
RS369205319 COQ8B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nephrotic syndrome
RS369206584 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS369206712 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS369206894 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS369207280 KRT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369207471 CYP11B1 Health Risk Conflicting classifications of pathogenicity Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
RS369209127 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS369209261 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS369210646 PRKAR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Carney complex
RS369211467 PEX10 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder
RS369212457 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS369212896 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS369213196 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS369214822 AQP2 Health Risk Pathogenic —
RS369215519 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Inborn genetic diseases
RS369215974 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, See cases
RS369218128 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS369218541 DST Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS369218950 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS369219156 IL10RA Health Risk Pathogenic Inflammatory bowel disease 28, Inflammatory bowel disease 28
RS369219412 COL18A1 Health Risk Conflicting classifications of pathogenicity —
RS369221296 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome
RS369221655 FLNC Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS369221665 WNK4 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2B, Inborn genetic diseases
RS369221746 KNL1 Health Risk Conflicting classifications of pathogenicity Microcephaly 4, primary
RS369221824 DNMBP Health Risk Conflicting classifications of pathogenicity —
RS369222477 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS369222947 PCGF2 Health Risk Conflicting classifications of pathogenicity PCGF2-related disorder, Inborn genetic diseases
RS369223258 TWNK Health Risk Conflicting classifications of pathogenicity Infantile onset spinocerebellar ataxia, Hereditary spastic paraplegia
RS369223412 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS369223684 ALPK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369223841 AIPL1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 4, Retinitis pigmentosa
RS369224209 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS369224273 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy
RS369224511 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS369227523 KRIT1 Health Risk Conflicting classifications of pathogenicity Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformation
RS369227537 SPG7 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 7, Mitochondrial disease
RS369227601 ERCC3 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, Xeroderma pigmentosum
RS369227827 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS369227883 CLPB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, 3-methylglutaconic aciduria
RS369230323 COQ6 Health Risk Conflicting classifications of pathogenicity —
RS369230457 PIGL Health Risk Pathogenic —
RS369230654 XDH Health Risk Conflicting classifications of pathogenicity Hereditary xanthinuria type 1, Xanthinuria type II
RS369231996 ALG2 Health Risk Conflicting classifications of pathogenicity ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14
RS369232492 STAR Health Risk Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS369232922 FGFR3 Health Risk Conflicting classifications of pathogenicity 14 conditions, FGFR3-related disorder
RS369233107 MPDZ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369233658 PACS1 Health Risk Conflicting classifications of pathogenicity PACS1-related disorder, PACS1-related disorder
RS369233949 PLCB4 Health Risk Conflicting classifications of pathogenicity Auriculocondylar syndrome 2, Inborn genetic diseases
RS369236009 TECTA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369237346 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS369237977 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS369238198 KARS1 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy, progressive
RS369238258 G6PC1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS369238799 ALDOB Health Risk Conflicting classifications of pathogenicity —
RS369239179 RYR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RYR1-related disorder
RS369240170 MCPH1 Health Risk Likely pathogenic Autosomal recessive primary microcephaly, Autosomal recessive primary microcephaly
RS369241009 TPI1 Health Risk Conflicting classifications of pathogenicity Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency
RS369242529 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS369242693 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS369243993 NDUFA10 Health Risk Conflicting classifications of pathogenicity —
RS369244905 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS369245661 IFIH1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS369245990 CDC14A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 32, Autosomal recessive nonsyndromic hearing loss 32
RS369246066 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 8
RS369246649 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS369247906 MYH6 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Primary familial hypertrophic cardiomyopathy
RS369249473 TINF2 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Revesz syndrome
RS369250297 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS369250510 CLDN16 Health Risk Conflicting classifications of pathogenicity Primary hypomagnesemia, Primary hypomagnesemia
RS369251473 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS369251527 CHAT Health Risk Pathogenic Familial infantile myasthenia, Congenital myasthenic syndrome
RS369253474 MASTL Health Risk Conflicting classifications of pathogenicity Thrombocytopenia, Thrombocytopenia
RS369253537 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS369254062 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS369254308 MUSK Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS369254585 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS369255146 SLC40A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hemochromatosis type 4
RS369255684 USH1C Health Risk Conflicting classifications of pathogenicity —
RS369255906 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G
RS369255950 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS369256548 MYL3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS369257896 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS369258590 MAPK8IP3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369259434 NOTCH1 Health Risk Conflicting classifications of pathogenicity Arterial dissection, Adams-Oliver syndrome 5
RS369259771 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS369259961 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS369260005 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS369262127 CAV1 Health Risk Conflicting classifications of pathogenicity Pulmonary hypertension, primary
RS369262181 LIPC Health Risk Conflicting classifications of pathogenicity Type 2 diabetes mellitus, Type 2 diabetes mellitus
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