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
RS376401006 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Febrile seizures
RS376402032 GEN1 Health Risk Conflicting classifications of pathogenicity —
RS376402047 EPHA2 Health Risk Conflicting classifications of pathogenicity Cataract 6 multiple types, Cataract 6 multiple types
RS376402363 PAPPA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376402418 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS376403182 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS376404333 GLIS3 Health Risk Conflicting classifications of pathogenicity Neonatal diabetes mellitus with congenital hypothyroidism, Neonatal diabetes mellitus with congenital hypothyroidism
RS376405451 DNAJB6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
RS376405554 KIF4A Health Risk Conflicting classifications of pathogenicity KIF4A-related disorder, KIF4A-related disorder
RS376405589 LHX3 Health Risk Conflicting classifications of pathogenicity Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities
RS376405759 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS376406896 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS376408039 KCND3 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 19/22, Cardiovascular phenotype
RS376408289 NCDN Health Risk Likely pathogenic Neurodevelopmental disorder with infantile epileptic spasms, Neurodevelopmental disorder with infantile epileptic spasms
RS376408404 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS376411022 ERCC5 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group G
RS376411072 CRPPA Health Risk Likely pathogenic —
RS376412367 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS376412573 LAMB3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376413488 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS376414138 SDCCAG8 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS376414614 RPL5 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 6, Diamond-Blackfan anemia
RS376416099 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, Gastric cancer
RS376416252 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrullinemia type II
RS376416531 FGFR1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS376416766 ROR2 Health Risk Conflicting classifications of pathogenicity —
RS376416924 PCLO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376417482 ACVRL1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS376417698 ERMARD Health Risk Conflicting classifications of pathogenicity —
RS376417882 TMEM67 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS376419401 CREB3L1 Health Risk Conflicting classifications of pathogenicity —
RS376420351 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS376420466 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS376421641 COL11A1 Health Risk Conflicting classifications of pathogenicity COL11A1-related disorder, Inborn genetic diseases
RS376421903 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS376422513 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS376422522 FAT4 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS376424106 MOGS Health Risk Conflicting classifications of pathogenicity MOGS-congenital disorder of glycosylation, MOGS-congenital disorder of glycosylation
RS376426309 GLRA1 Health Risk Conflicting classifications of pathogenicity Hyperekplexia 1, Hereditary hyperekplexia
RS376428763 ADGRV1 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS376429075 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376429116 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS376430565 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS376431510 TCOF1 Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS376432083 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376432164 COQ6 Health Risk Likely pathogenic —
RS376432305 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS376432808 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS376433615 PSEN1 Health Risk Conflicting classifications of pathogenicity Alzheimer disease 3, Frontotemporal dementia
RS376434225 HCN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, HCN1-related disorder
RS376436307 MTOR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376436419 MTOR Health Risk Conflicting classifications of pathogenicity Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
RS376437712 LEMD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376438052 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS376438203 GABBR2 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Inborn genetic diseases
RS376438394 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Inborn genetic diseases
RS376438767 PDE6B Health Risk Pathogenic —
RS376439588 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Cardiovascular phenotype
RS376439815 MEF2C Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS376441206 GALNT12 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS376441643 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy
RS376442872 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Type 2 collagenopathy
RS376443291 IMPG2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 56
RS376443365 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS376443652 AR Health Risk Conflicting classifications of pathogenicity Androgen resistance syndrome, Kennedy disease
RS376444481 SLC38A8 Health Risk Conflicting classifications of pathogenicity —
RS376444685 SON Health Risk Conflicting classifications of pathogenicity —
RS376445406 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Tibial muscular dystrophy
RS376446854 CARD11 Health Risk Conflicting classifications of pathogenicity BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency
RS376447025 SERPINF1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6
RS376448083 SLC34A1 Health Risk Conflicting classifications of pathogenicity —
RS376448611 SLC6A20 Health Risk Conflicting classifications of pathogenicity Hyperglycinuria, Iminoglycinuria
RS376449340 HTRA1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 7, HTRA1-related disorder
RS376449640 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
RS376451005 CDHR1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 15, Cone-rod dystrophy 15
RS376451171 FGFR2 Health Risk Conflicting classifications of pathogenicity FGFR2-related craniosynostosis, FGFR2-related craniosynostosis
RS376451611 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, MYO15A-related disorder
RS376452111 LGI1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant epilepsy with auditory features, Inborn genetic diseases
RS376452135 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS376452358 IMPG2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS376452612 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS376452959 FKTN Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype
RS376453450 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS376453517 PIK3CG Health Risk Pathogenic Immunodeficiency 97 with autoinflammation, Immunodeficiency 97 with autoinflammation
RS376453519 DNA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376454715 CLN5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS376455464 FBXO7 Health Risk Pathogenic Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS376455983 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS376456050 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy 1
RS376456377 TNNT1 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 5, Nemaline myopathy 5
RS376456435 SCNN1A Health Risk Conflicting classifications of pathogenicity Bronchiectasis with or without elevated sweat chloride 2, Pseudohypoaldosteronism
RS376456598 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS376456666 MSH3 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS376457425 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS376458338 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, FRAS1-related disorder
RS376459715 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Hereditary cancer-predisposing syndrome
RS376459828 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS376461109 CUBN Health Risk Likely pathogenic Proteinuria, chronic benign
RS376461141 PHEX Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS376461465 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
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