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
RS749810824 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, NTHL1-deficiency tumor predisposition syndrome
RS749811911 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS749812958 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS749813523 CACNA1G Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CACNA1G-related disorder
RS749813559 CHKB Health Risk Conflicting classifications of pathogenicity Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS749815295 WDR19 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 5, Cranioectodermal dysplasia 4
RS74981632 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS749816424 PNPLA1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10
RS749816778 NKX2-5 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype
RS749817240 COL4A5 Health Risk Likely pathogenic —
RS749817266 SLC25A15 Health Risk Pathogenic/Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS749817666 ADSL Health Risk Pathogenic/Likely pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS749817667 CEP78 Health Risk Pathogenic —
RS749818659 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS749820299 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS749820775 TCN1 Health Risk Pathogenic Transcobalamin I deficiency, Transcobalamin I deficiency
RS749820891 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS749823104 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS749825961 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS749826312 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS749826506 SOX11 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism, Inborn genetic diseases
RS749827230 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS749827376 CCDC78 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with internal nuclei and atypical cores, Congenital myopathy with internal nuclei and atypical cores
RS749827433 TYMP Health Risk Pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS749828824 SPINK5 Health Risk Pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS749829526 EXOSC8 Health Risk Pathogenic Spastic ataxia, Spastic ataxia
RS749829859 CEP104 Health Risk Pathogenic/Likely pathogenic Joubert syndrome and related disorders, Intellectual developmental disorder
RS749830948 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS749831587 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS74983220 RDX Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 24, RDX-related disorder
RS749832328 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS749832848 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS749833271 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS749833945 ARID2 Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 6, Inborn genetic diseases
RS749834266 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS749834830 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder
RS749836021 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS749836697 ALPK3 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS749837689 OPHN1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Inborn genetic diseases
RS749837829 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS749838192 SCO2 Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Cardioencephalomyopathy
RS749839670 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS749839913 RGR Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS749840435 THBD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749841821 RAB11B Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with ataxic gait, absent speech
RS749842172 SEC63 Health Risk Pathogenic Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS749842477 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS749842554 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS749842881 CNGA3 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Achromatopsia 2
RS749843747 OSGEP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749844096 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis 4
RS749844591 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS749844592 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS749845322 TSEN34 Health Risk Conflicting classifications of pathogenicity Pontoneocerebellar hypoplasia, TSEN34-related disorder
RS749846538 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS749846681 VAMP1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Myasthenic syndrome
RS749848324 EHMT1 Health Risk Pathogenic Inborn genetic diseases, Kleefstra syndrome 1
RS749848370 HADHA Health Risk Pathogenic/Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS749848775 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS749848937 RASA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Capillary malformation-arteriovenous malformation syndrome
RS749849028 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Congenital ichthyosis of skin
RS749849152 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS749850181 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4
RS749850642 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, LRSAM1-related disorder
RS749852225 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS749852593 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS749852883 DDR2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749853265 PREPL Health Risk Pathogenic/Likely pathogenic Myasthenic syndrome, congenital
RS749853484 CNGA3 Health Risk Conflicting classifications of pathogenicity Cone dystrophy, Cone dystrophy
RS749853995 PKD1 Health Risk Conflicting classifications of pathogenicity PKD1-related disorder, Inborn genetic diseases
RS749854039 PCNT Health Risk Pathogenic —
RS749854099 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS749855263 EFTUD2 Health Risk Pathogenic/Likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS749855424 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS749855513 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS749856222 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS749858541 MOGS Health Risk Likely pathogenic MOGS-congenital disorder of glycosylation, MOGS-congenital disorder of glycosylation
RS749859427 WASHC5 Health Risk Likely pathogenic Ritscher-Schinzel syndrome 1, Ritscher-Schinzel syndrome 1
RS749860792 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS749861265 ADNP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS749861487 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS749861944 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS749862200 CPLANE1 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome type 6, Joubert syndrome 17
RS749863676 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy
RS749864407 WNT10A Health Risk Conflicting classifications of pathogenicity Odonto-onycho-dermal dysplasia, Tooth agenesis
RS749864465 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Brugada syndrome 1
RS749864626 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS749864968 DVL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749866053 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS749866079 BCAT2 Health Risk Pathogenic Hypervalinemia and hyperleucine-isoleucinemia, Hypervalinemia and hyperleucine-isoleucinemia
RS749866369 NEK8 Health Risk Likely pathogenic Nephronophthisis 9, Nephronophthisis 9
RS749866545 CHRND Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Congenital myasthenic syndrome
RS749868411 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS749869303 MITF Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS749869317 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS749869789 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS749870323 RGS9 Health Risk Pathogenic —
RS749873028 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Infantile liver failure syndrome 2
RS749873354 ACAT1 Health Risk Pathogenic/Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS749875053 CFH Health Risk Conflicting classifications of pathogenicity Basal laminar drusen, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
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