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
RS375304428 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS375305122 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS375305567 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, POLG-related disorder
RS375306400 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS375307057 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS375307767 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS375307834 TBC1D32 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome IX, Orofaciodigital syndrome IX
RS375308385 GABRG2 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE
RS375308440 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, PRDM16-related disorder
RS375309278 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS375309858 RBFOX3 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Idiopathic generalized epilepsy
RS375309925 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Intellectual disability
RS375310569 TCAP Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy
RS375310575 ADGRV1 Health Risk Pathogenic Usher syndrome type 2C, Usher syndrome type 2C
RS375313472 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia, Cardiovascular phenotype
RS375313641 ZNF727 Health Risk Conflicting classifications of pathogenicity —
RS375314297 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS375314464 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Left ventricular noncompaction 8
RS375314757 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375314974 LTBP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375315233 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS375315619 ABCB4 Health Risk Conflicting classifications of pathogenicity Cholestasis, intrahepatic
RS375315668 PRUNE2 Health Risk Conflicting classifications of pathogenicity —
RS375316659 NEDD4L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NEDD4L-related disorder
RS375316758 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Macular degeneration
RS375317575 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, TCIRG1-related disorder
RS375318010 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS375318012 GJC2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, GJC2-related disorder
RS375318218 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, Inborn genetic diseases
RS375318710 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS375318905 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS375319565 SLC45A2 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
RS375320117 CASQ2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS375321548 CA5A Health Risk Conflicting classifications of pathogenicity Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, CA5A-related disorder
RS375321647 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS375322679 ACAN Health Risk Pathogenic Osteochondritis dissecans, Spondyloepiphyseal dysplasia
RS375323203 GSN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Finnish type amyloidosis
RS375323253 IRF7 Health Risk risk factor Immunodeficiency 39, Immunodeficiency 39
RS375323548 SCN5A Health Risk Conflicting classifications of pathogenicity Progressive familial heart block, type 1A
RS375323558 NIN Health Risk Conflicting classifications of pathogenicity —
RS375324850 LTBP2 Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary infantile
RS375325266 OPHN1 Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome
RS375325395 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS375325546 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS375325893 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS375326054 TNFRSF6B Health Risk Conflicting classifications of pathogenicity TNFRSF6B-related disorder, TNFRSF6B-related disorder
RS375327000 TBCD Health Risk Conflicting classifications of pathogenicity TBCD-related disorder, Inborn genetic diseases
RS375327581 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS375328311 ALG12 Health Risk Conflicting classifications of pathogenicity ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS375328523 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS375329638 HADHB Health Risk Pathogenic/Likely pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency 2
RS375329908 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS375330013 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2
RS375330016 KCNJ2 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Short QT syndrome type 3
RS375330570 CABP4 Health Risk Conflicting classifications of pathogenicity Cone-rod synaptic disorder, congenital nonprogressive
RS375330730 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS375331819 KLHL40 Health Risk Pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS375332060 YARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate C, Charcot-Marie-Tooth disease dominant intermediate C
RS375332299 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Inborn genetic diseases
RS375332745 MTRR Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblE, Inborn genetic diseases
RS375332939 HYLS1 Health Risk Conflicting classifications of pathogenicity Hydrolethalus syndrome, Inborn genetic diseases
RS375333284 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS375334289 MAPK1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 13, Noonan syndrome 13
RS375335006 HPGD Health Risk Likely pathogenic Hypertrophic osteoarthropathy, primary
RS375335095 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS375336581 ATP2A1 Health Risk Conflicting classifications of pathogenicity Brody myopathy, Brody myopathy
RS375338359 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS375339408 CDAN1 Health Risk Pathogenic Anemia, congenital dyserythropoietic
RS375340441 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS375341409 LAMP2 Health Risk Conflicting classifications of pathogenicity Trifascicular block on electrocardiogram, Danon disease
RS375341444 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS375342465 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS375342580 RBP3 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS375343084 PDGFRB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Acroosteolysis-keloid-like lesions-premature aging syndrome
RS375343753 AFG2A Health Risk Conflicting classifications of pathogenicity Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS375344403 MPL Health Risk Conflicting classifications of pathogenicity Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS375345044 SCO2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS375345961 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS375346212 PCDH12 Health Risk Pathogenic Diencephalic-mesencephalic junction dysplasia syndrome 1, Diencephalic-mesencephalic junction dysplasia syndrome 1
RS375346290 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS375346333 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS375347534 MYBPC3 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS375347596 TTN Health Risk Conflicting classifications of pathogenicity —
RS375348086 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS375348725 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS375348828 TELO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375349172 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS375350193 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, SPG11-related disorder
RS375350359 RINT1 Health Risk Pathogenic Fulminant hepatic failure, Infantile liver failure syndrome 3
RS375350474 ELANE Health Risk Conflicting classifications of pathogenicity Cyclical neutropenia, Neutropenia
RS375351205 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS375351432 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS375352888 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS375353223 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS375353872 TECTA Health Risk Likely pathogenic —
RS375354077 CACNA1A Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 6, Episodic ataxia type 2
RS375354960 TRAPPC12 Health Risk Likely pathogenic Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
RS375355193 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS375355661 ARFGEF2 Health Risk Conflicting classifications of pathogenicity Periventricular heterotopia with microcephaly, autosomal recessive
RS375356144 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
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