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
RS370928637 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS370928726 ZIC3 Health Risk Conflicting classifications of pathogenicity Heterotaxy, visceral
RS370929830 PNKD Health Risk Conflicting classifications of pathogenicity Paroxysmal nonkinesigenic dyskinesia 1, Paroxysmal nonkinesigenic dyskinesia
RS370930012 RNPC3 Health Risk Pathogenic Isolated growth hormone deficiency, type 5
RS370931212 DSPP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370931495 NLRP5 Health Risk Conflicting classifications of pathogenicity —
RS370931683 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS370932895 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS370933531 RIPPLY2 Health Risk Conflicting classifications of pathogenicity Spondylocostal dysostosis 6, autosomal recessive
RS370934116 HOXB13 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS370934186 NPR2 Health Risk Conflicting classifications of pathogenicity Acromesomelic dysplasia 1, Maroteaux type
RS370934806 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS370937269 SCN1B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 5, Cardiovascular phenotype
RS370939644 COL4A1 Health Risk Conflicting classifications of pathogenicity Hemorrhage, intracerebral
RS370940232 DEPDC5 Health Risk Conflicting classifications of pathogenicity Self-limited epilepsy with centrotemporal spikes, Familial focal epilepsy with variable foci
RS370940450 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS370940497 LAMA5 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, IIa 26
RS370940954 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS370941771 ELFN1 Health Risk Conflicting classifications of pathogenicity ELFN1-related disorder, ELFN1-related disorder
RS370941975 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS370943521 CCT5 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy with spastic paraplegia, Hereditary sensory and autonomic neuropathy with spastic paraplegia
RS370943663 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, BNAR syndrome
RS370943966 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, Inborn genetic diseases
RS370944350 MYORG Health Risk Conflicting classifications of pathogenicity Basal ganglia calcification, idiopathic
RS370947152 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS370948914 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS370950187 SLC5A6 Health Risk Pathogenic Neurodegeneration, infantile-onset
RS370950728 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS370951369 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic valve disease 1
RS370951378 SUOX Health Risk Likely pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS370951695 SOX9 Health Risk Conflicting classifications of pathogenicity —
RS370951929 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS370952253 ARCN1 Health Risk Conflicting classifications of pathogenicity Short stature, rhizomelic
RS370952321 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS370952454 EMC1 Health Risk Pathogenic/Likely pathogenic Cerebellar atrophy, visual impairment
RS370952607 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS370954970 DUOX2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370955311 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS370955995 LGI1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features
RS370956790 POLA1 Health Risk Conflicting classifications of pathogenicity —
RS370958363 POLE Health Risk Pathogenic —
RS370958401 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS370959127 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS370960689 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS370960966 SPTBN4 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, neuropathy
RS370961691 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS370962049 TH Health Risk Pathogenic/Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS370962244 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS370964946 TMIE Health Risk Conflicting classifications of pathogenicity TMIE-related disorder, TMIE-related disorder
RS370965011 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS370965183 CIB2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 48, Hearing loss
RS370966353 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, RYR1-related disorder
RS370966667 COL11A2 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia
RS370967218 CDH15 Health Risk Conflicting classifications of pathogenicity —
RS370968275 TAPT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370968487 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370968992 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS370969225 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS370969296 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS370970067 SQSTM1 Health Risk Conflicting classifications of pathogenicity Paget disease of bone 3, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
RS370970617 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS370971334 LAMA2 Health Risk Conflicting classifications of pathogenicity Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS370972136 FKBP10 Health Risk Pathogenic —
RS370972259 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS370972311 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS370972367 EDAR Health Risk Conflicting classifications of pathogenicity Hypohidrotic ectodermal dysplasia, Ectodermal dysplasia 10A
RS370972881 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS370973153 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype
RS370973542 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS370973715 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS370974124 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group C, Fanconi anemia
RS370974945 PCLO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370976402 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS370976687 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2O
RS370976710 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS370977392 HNRNPU Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS370978230 POMK Health Risk Conflicting classifications of pathogenicity Limb-girdle muscular dystrophy due to POMK deficiency, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS370978420 CDH3 Health Risk Conflicting classifications of pathogenicity EEM syndrome, EEM syndrome
RS370978752 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy
RS370979904 TELO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370979982 BICRA Health Risk Conflicting classifications of pathogenicity —
RS370981323 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS370983472 CDH23 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Usher syndrome type 1
RS370983765 ARID1A Health Risk Conflicting classifications of pathogenicity —
RS370984700 PKD1L1 Health Risk Pathogenic Heterotaxy, visceral
RS370984854 TRAPPC9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370985388 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS370985675 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS370985865 CLCNKB Health Risk Pathogenic Epilepsy, familial focal
RS370986101 GDF1 Health Risk Conflicting classifications of pathogenicity —
RS370986989 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS370988085 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370988507 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS370988625 CR2 Health Risk Pathogenic —
RS370988709 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS370989483 SPTA1 Health Risk Conflicting classifications of pathogenicity Pyropoikilocytosis, hereditary
RS370989546 ABL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370990052 ASPM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370991693 TG Health Risk Pathogenic/Likely pathogenic Congenital hypothyroidism, Congenital hypothyroidism
RS370992555 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
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