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
RS774069326 MBTPS1 Health Risk Likely pathogenic —
RS774069731 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS774069983 NDUFS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774069989 TP53RK Health Risk Pathogenic Microcephaly, Galloway-Mowat syndrome 4
RS774070092 NUP88 Health Risk Pathogenic Fetal akinesia deformation sequence 4, Fetal akinesia deformation sequence 4
RS774070544 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS774071705 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia
RS774072493 BCHE Health Risk Conflicting classifications of pathogenicity Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS774072752 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS774073166 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS774073234 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases
RS774073825 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS774075356 PHIP Health Risk Pathogenic —
RS774075554 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS774075577 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS774075762 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS774076269 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype
RS774076440 CDAN1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type I
RS774076578 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS774076870 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774077792 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS774078708 TSHR Health Risk Pathogenic Familial gestational hyperthyroidism, Familial gestational hyperthyroidism
RS774078839 ERCC5 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, Xeroderma pigmentosum
RS774079947 IGHMBP2 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS774080549 SLC7A7 Health Risk Pathogenic/Likely pathogenic Lysinuric protein intolerance, SLC7A7-related disorder
RS774080932 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS774081365 SLC12A6 Health Risk Conflicting classifications of pathogenicity Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS774081386 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS774081599 CCDC40 Health Risk Likely pathogenic Primary ciliary dyskinesia, Thyroid cancer
RS77408163 ALB Health Risk Pathogenic Analbuminemia Baghdad, Analbuminemia Baghdad
RS774081826 ALDH18A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant spastic paraplegia type 9
RS774084308 SMARCA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774085664 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS774086520 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS774087747 SLC25A3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy-hypotonia-lactic acidosis syndrome, Cardiomyopathy-hypotonia-lactic acidosis syndrome
RS774088864 PSAP Health Risk Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency, Inborn genetic diseases
RS774090082 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774091057 TMEM231 Health Risk Likely pathogenic Joubert syndrome 20, Meckel syndrome
RS774091248 TWNK Health Risk Conflicting classifications of pathogenicity Autosomal recessive cerebellar ataxia, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS774092000 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS774092678 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS77409459 CFTR Health Risk Pathogenic Cystic fibrosis, CFTR-related disorder
RS774095109 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS774095835 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS774096141 NALCN Health Risk Pathogenic Hypotonia, infantile
RS774096421 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS774096623 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS774099283 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS774099891 SLC36A2 Health Risk Conflicting classifications of pathogenicity —
RS774099930 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS774099938 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774100153 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS77410031 GNPTAB Health Risk Conflicting classifications of pathogenicity Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS774100942 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1
RS774101297 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Jervell and Lange-Nielsen syndrome 1
RS774102273 NR2E3 Health Risk Pathogenic Retinitis pigmentosa 37, Enhanced S-cone syndrome
RS774103837 RAG1 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive
RS774104069 COL9A2 Health Risk Conflicting classifications of pathogenicity Epiphyseal dysplasia, multiple
RS774104217 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS774105293 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS774106502 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS774109163 KCNH2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiac arrhythmia
RS774109260 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS774109272 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Inborn genetic diseases
RS774109373 SI Health Risk Likely pathogenic —
RS774109607 ADGRG1 Health Risk Pathogenic/Likely pathogenic Bilateral frontoparietal polymicrogyria, Polymicrogyria
RS774109639 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774110184 CARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 27, Combined oxidative phosphorylation defect type 27
RS774110241 MYORG Health Risk Likely pathogenic —
RS774110963 TMEM138 Health Risk Pathogenic Joubert syndrome 16, Joubert syndrome 16
RS774110999 BBS1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS774112675 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2O
RS774113388 FANCC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia
RS774113529 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS774113804 MPDU1 Health Risk Likely pathogenic —
RS774114061 HADHA Health Risk Pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS774114072 MYLK2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
RS774114705 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS774115028 ATP13A2 Health Risk Pathogenic Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
RS774115247 COL6A3 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS774115675 DCDC2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis
RS774117516 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS774118431 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS774118546 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS774119406 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS774119942 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS774120023 ACTA2 Health Risk Conflicting classifications of pathogenicity Multisystemic smooth muscle dysfunction syndrome, Aortic aneurysm
RS774120735 BSCL2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS774120769 DDX59 Health Risk Pathogenic —
RS774122562 RDH5 Health Risk Pathogenic/Likely pathogenic Pigmentary retinal dystrophy, Fundus albipunctatus
RS774123273 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS774124697 SLC7A9 Health Risk Pathogenic Cystinuria, Cystinuria
RS774124713 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS774126306 TTN Health Risk Conflicting classifications of pathogenicity —
RS774127285 TUBB4A Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS774129089 FLG Health Risk Pathogenic —
RS774129955 ABCG8 Health Risk Likely pathogenic —
RS774130423 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS774130469 FANCL Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group L
RS774130993 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
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