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
RS746135465 BUB1B Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS746135723 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS746136472 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS746136883 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS746138428 GFRA1 Health Risk Pathogenic Renal hypodysplasia/aplasia 4, Renal hypodysplasia/aplasia 4
RS746138504 MOCS1 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Inborn genetic diseases
RS746139865 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2D, Neuronopathy
RS746139953 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS746141070 PDE6B Health Risk Likely pathogenic Retinitis pigmentosa 40, Retinal dystrophy
RS746141726 ZNF341 Health Risk Pathogenic Hyper-IgE recurrent infection syndrome 3, autosomal recessive
RS746142129 XRCC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Spermatogenic failure 50
RS746145270 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS746145535 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS746146532 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Inborn genetic diseases
RS746146690 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS746147472 PCLO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746147610 DVL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746147656 NTRK2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746148722 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS746149047 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS746150420 NLRP7 Health Risk Conflicting classifications of pathogenicity Hydatidiform mole, recurrent
RS746150931 ROBO2 Health Risk Conflicting classifications of pathogenicity ROBO2-related disorder, Vesicoureteral reflux 2
RS746151218 SI Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sucrase-isomaltase deficiency
RS746152064 PEX3 Health Risk Likely pathogenic —
RS746152219 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS746152246 CDH23 Health Risk Pathogenic/Likely pathogenic Childhood onset hearing loss, Pituitary adenoma 5
RS746152408 ADAR Health Risk Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS746153198 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2
RS746154279 TRNT1 Health Risk Pathogenic/Likely pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, TRNT1-related disorder
RS746155183 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS746155190 SLC25A13 Health Risk Pathogenic Neonatal intrahepatic cholestasis due to citrin deficiency, Citrin deficiency
RS746155226 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS746155423 COQ9 Health Risk Pathogenic —
RS746155701 SERPINA1 Health Risk Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS746156911 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS746158069 KIAA0586 Health Risk Pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS746158689 DMD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 3B, Dilated cardiomyopathy 3B
RS746159001 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS746159424 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS746159592 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS746159648 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A2-related disorder
RS746159728 LRSAM1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS746160070 TMPO Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS746160626 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS746160756 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS746161025 POMT1 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS746161154 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS746163041 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS746163138 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS746163664 CHD8 Health Risk Conflicting classifications of pathogenicity CHD8-related disorder, Inborn genetic diseases
RS746164022 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS746164064 CEACAM16 Health Risk Conflicting classifications of pathogenicity Nonsyndromic genetic hearing loss, Hearing loss
RS746165168 SDHA Health Risk Pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS746165832 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS746166271 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS746166328 DDX41 Health Risk Conflicting classifications of pathogenicity Bone marrow hypocellularity, DDX41-related hematologic malignancy predisposition syndrome
RS746166372 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS746166913 ABCB4 Health Risk Conflicting classifications of pathogenicity ABCB4-related disorder, ABCB4-related disorder
RS746169425 SUMF1 Health Risk Conflicting classifications of pathogenicity Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS746169492 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS746170176 C1QBP Health Risk Pathogenic —
RS746170558 PRPF8 Health Risk Pathogenic —
RS746171104 BBS2 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS746171271 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS746173019 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS746173483 PEX16 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 8A (Zellweger), Peroxisome biogenesis disorder
RS746173561 DSC2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS746174066 TNFRSF6B Health Risk Conflicting classifications of pathogenicity —
RS746174154 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS746174328 PROM1 Health Risk Pathogenic Retinitis pigmentosa 41, Retinal dystrophy
RS746175107 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS746175548 NF2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS746176365 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS746177025 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS746177210 DSP Health Risk Likely pathogenic Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS746177326 SYNE1 Health Risk Pathogenic/Likely pathogenic Arthrogryposis multiplex congenita 3, myogenic type
RS746177544 GOSR2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 6, Muscular dystrophy
RS746177794 TPM2 Health Risk Conflicting classifications of pathogenicity Congenital myopathy 23, Arthrogryposis
RS746177907 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS746177928 DYRK1A Health Risk Pathogenic Complex neurodevelopmental disorder, DYRK1A-related intellectual disability syndrome
RS746178364 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS746178942 SLC27A4 Health Risk Pathogenic Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome
RS746180213 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS746180658 MPV17 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746180694 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, Inborn genetic diseases
RS746181375 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS746182820 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, FLNC-related disorder
RS746183321 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS746183882 FLNC Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 5, Cardiovascular phenotype
RS746183974 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS746184019 CHST6 Health Risk Pathogenic Macular corneal dystrophy, Macular corneal dystrophy
RS746184552 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS746186338 TCTN2 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS746187344 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, SLC22A5-related disorder
RS746187785 DPAGT1 Health Risk Conflicting classifications of pathogenicity DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13
RS746192125 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS746193063 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS746193653 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS746194866 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS746195311 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
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