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
RS757797994 RAG1 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS757799254 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS757800887 MTRR Health Risk Pathogenic Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE
RS757801770 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS757803046 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS75780325 VWA3B Health Risk Conflicting classifications of pathogenicity —
RS757803941 FGF13 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder, X-linked 110
RS757803976 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS757805966 TRDN Health Risk Pathogenic/Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia
RS757807971 CC2D2A Health Risk Pathogenic Meckel syndrome, type 6
RS757808169 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS757808220 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS757810589 SIN3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757810767 MYO3A Health Risk Conflicting classifications of pathogenicity —
RS757811625 KCNT1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy
RS757816344 SBF1 Health Risk Conflicting classifications of pathogenicity —
RS757816355 KRAS Health Risk Conflicting classifications of pathogenicity RASopathy, 12 conditions
RS757816546 COQ9 Health Risk Conflicting classifications of pathogenicity Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
RS757816953 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS757817018 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS757817254 F11 Health Risk Conflicting classifications of pathogenicity Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS757818559 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS757818801 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS757819428 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS757819771 ADAR Health Risk Pathogenic —
RS757820442 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS757820496 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS757820624 SLC26A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS757820671 TTN Health Risk Conflicting classifications of pathogenicity —
RS757820735 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS757821091 FBXO11 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS757821270 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Malignant tumor of breast
RS757823284 TTLL5 Health Risk Pathogenic —
RS757823317 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS757823463 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS757823678 DNMT3A Health Risk Pathogenic/Likely pathogenic Tatton-Brown-Rahman overgrowth syndrome, Inborn genetic diseases
RS757823891 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS757824441 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS757825631 STAR Health Risk Conflicting classifications of pathogenicity Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS757825778 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS757826187 DPF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757827840 WDR62 Health Risk Pathogenic WDR62-related disorder, WDR62-related disorder
RS757828751 ASNS Health Risk Conflicting classifications of pathogenicity —
RS757829667 NPHS2 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2
RS757830349 POMT1 Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2K
RS75783175 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related disorder
RS757832700 IVD Health Risk Conflicting classifications of pathogenicity Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS757832991 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS757834403 SCAPER Health Risk Likely pathogenic Intellectual developmental disorder and retinitis pigmentosa, IDDRP
RS75783492 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Decreased circulating carnitine concentration
RS757836263 SPTB Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 2, Chudley-McCullough syndrome
RS757836340 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Pyropoikilocytosis
RS757836789 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS757837763 ADNP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757838397 TWNK Health Risk Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
RS757840030 MYH6 Health Risk Conflicting classifications of pathogenicity Congestive heart failure, Hypertrophic cardiomyopathy 14
RS757840865 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS757840893 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Familial melanoma
RS757841012 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS757841535 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS757843416 LTBP2 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Glaucoma 3
RS757845058 SPTA1 Health Risk Pathogenic/Likely pathogenic —
RS757845999 SHOX Health Risk Conflicting classifications of pathogenicity Langer mesomelic dysplasia syndrome, Leri-Weill dyschondrosteosis
RS757846343 FGFR2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757846451 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS757846582 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS757846841 NSD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757847164 BUB1 Health Risk Conflicting classifications of pathogenicity —
RS757847276 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS757847775 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS757848062 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS757848486 CDC20 Health Risk Pathogenic Oocyte maturation defect 14, Oocyte maturation defect 14
RS757849047 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS757849639 STUB1 Health Risk Conflicting classifications of pathogenicity —
RS757849830 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS757849893 RAB27A Health Risk Pathogenic Griscelli syndrome type 2, Griscelli syndrome type 2
RS757850587 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS757850760 PHOX2B Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS757851017 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS757852651 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS757852728 EIF2AK4 Health Risk Pathogenic Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS757854282 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS757857101 MFSD8 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS757858465 PSMB8 Health Risk Conflicting classifications of pathogenicity Proteasome-associated autoinflammatory syndrome 1, Autoinflammatory syndrome
RS757858684 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS757858711 MERTK Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Inborn genetic diseases
RS757859799 ADNP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757860001 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS757860505 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Febrile seizures
RS757860628 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS757860709 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS757861047 KLF1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia type 4, Congenital dyserythropoietic anemia type 4
RS757862609 INSL3 Health Risk Likely pathogenic Bilateral cryptorchidism, Bilateral cryptorchidism
RS757863128 WWOX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS757863670 B9D2 Health Risk Pathogenic Joubert syndrome, Joubert syndrome 34
RS757865122 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS757865136 SLC29A3 Health Risk Conflicting classifications of pathogenicity H syndrome, H syndrome
RS757868659 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS757868774 GABRG2 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE
RS757868800 KCNE5 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Brugada syndrome
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