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
RS1425913203 AGRN Health Risk Pathogenic Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS142591816 CYP11B1 Health Risk Conflicting classifications of pathogenicity —
RS142592480 BRAF Health Risk Conflicting classifications of pathogenicity Noonan syndrome 7, LEOPARD syndrome 3
RS142592778 FLG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ichthyosis vulgaris
RS142593414 BBS12 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS142594036 NDUFS2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS142594229 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142594314 VANGL1 Health Risk Conflicting classifications of pathogenicity Sacral defect with anterior meningocele, Neural tube defect
RS142594852 USH2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1425948622 MAK Health Risk Pathogenic —
RS142595337 BCOR Health Risk Conflicting classifications of pathogenicity Oculofaciocardiodental syndrome, Inborn genetic diseases
RS142595450 STXBP1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 4
RS1425964299 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS142596580 KCNJ10 Health Risk Conflicting classifications of pathogenicity EAST syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS1425974785 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS1425976342 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS142597944 FAN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142598024 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, Inborn genetic diseases
RS142598041 PIGG Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 53
RS1425981651 LPL Health Risk Conflicting classifications of pathogenicity Hyperlipoproteinemia, type I
RS142598777 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, KIF7-related disorder
RS1425990651 POLE Health Risk Likely pathogenic —
RS1425995839 TRPM4 Health Risk Likely pathogenic —
RS1425998598 BPTF Health Risk Likely pathogenic Secondary microcephaly, Expressive language delay
RS142600056 RP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 1, Retinitis pigmentosa
RS142600079 WDR62 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142600166 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Inborn genetic diseases
RS1426006136 CRB1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1426009756 ALMS1 Health Risk Pathogenic Alstrom syndrome, Cone-rod dystrophy
RS142601143 MMP13 Health Risk Conflicting classifications of pathogenicity Metaphyseal anadysplasia, Spondyloepimetaphyseal dysplasia
RS1426011893 CACNA1S Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Malignant hyperthermia
RS1426014295 ECHS1 Health Risk Pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS142601521 TGFB3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Arrhythmogenic right ventricular dysplasia 1
RS142602400 GBA2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS142602984 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1
RS142603089 ALPK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142603479 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1426040506 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS142604510 PRPF31 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1426045227 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS142604577 ATPAF2 Health Risk Conflicting classifications of pathogenicity —
RS142604625 FKTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1X
RS142604963 WNT9B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1426053406 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1426054272 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS142605836 CENPF Health Risk Conflicting classifications of pathogenicity CENPF-related disorder, Inborn genetic diseases
RS142606252 MYH8 Health Risk Conflicting classifications of pathogenicity Hecht syndrome, MYH8-related disorder
RS142606486 PTPN11 Health Risk Conflicting classifications of pathogenicity LEOPARD syndrome 1, Metachondromatosis
RS142606828 PRF1 Health Risk Pathogenic/Likely pathogenic Aplastic anemia, Familial hemophagocytic lymphohistiocytosis 2
RS142607078 GBA2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS142607751 CIT Health Risk Conflicting classifications of pathogenicity Melanoma, Gastric cancer
RS142609007 FGD4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4H
RS142609245 NDUFB3 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, Inborn genetic diseases
RS142609349 STING1 Health Risk Conflicting classifications of pathogenicity STING-associated vasculopathy with onset in infancy, Autoinflammatory syndrome
RS1426095369 SCO2 Health Risk Pathogenic/Likely pathogenic Cardioencephalomyopathy, fatal infantile
RS142611359 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS142611434 SAMD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SAMD9-related disorder
RS1426120425 ATP6V1B1 Health Risk Pathogenic —
RS142612062 MTHFR Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS142612379 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS142612655 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1426127948 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS142613217 GNMT Health Risk Conflicting classifications of pathogenicity —
RS1426135314 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS142614369 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS1426156076 HACD1 Health Risk Pathogenic Congenital myopathy 11, Congenital myopathy 11
RS142616130 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS1426170956 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy
RS1426175410 GATA2 Health Risk Pathogenic/Likely pathogenic Leukemia, acute myeloid
RS142617551 MTHFR Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS142617606 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Inborn genetic diseases
RS1426178024 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS142618460 COX5A Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 20
RS1426188025 UNG Health Risk Pathogenic Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5
RS1426192255 VPS13D Health Risk Pathogenic —
RS142619269 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS142619737 DPYD Health Risk Conflicting classifications of pathogenicity Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS142619902 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1426201422 TMEM70 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
RS142620145 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1426201872 KLHL7 Health Risk Pathogenic —
RS142620337 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, AGRN-related disorder
RS1426204968 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS142620954 MYLK2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
RS142621039 GBA2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS142621386 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Inborn genetic diseases
RS142621533 UTRN Health Risk Conflicting classifications of pathogenicity —
RS142622396 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142622803 OGDHL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142623022 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cardiovascular phenotype
RS1426234144 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS142624021 D2HGDH Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 1, Inborn genetic diseases
RS1426246334 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1426253750 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS142626035 PEX10 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder
RS1426262136 PIGS Health Risk Likely pathogenic Glycosylphosphatidylinositol biosynthesis defect 18, Glycosylphosphatidylinositol biosynthesis defect 18
RS142626276 HSPB3 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS142626656 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS1426272694 ATP6V0A1 Health Risk Pathogenic Neurodevelopmental disorder with epilepsy and brain atrophy, Neurodevelopmental disorder with epilepsy and brain atrophy
RS1426280102 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
« Prev 1 ... 554 555 556 557 558 559 560 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →