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
RS530406993 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS530413587 FRRS1L Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 37
RS530428285 COPA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome
RS530430137 ARID1B Health Risk Conflicting classifications of pathogenicity Intellectual disability, Inborn genetic diseases
RS530441485 COL11A1 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 1, Stickler syndrome type 2
RS530442560 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS530445034 ITGA3 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa, junctional 7
RS530452383 DNA2 Health Risk Conflicting classifications of pathogenicity —
RS530464947 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS530465133 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS530479821 PLCB4 Health Risk Conflicting classifications of pathogenicity Auriculocondylar syndrome 2, Inborn genetic diseases
RS530481219 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS530486445 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PIEZO1-related disorder
RS530496528 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS530503488 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS530505647 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS530507211 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Dilated cardiomyopathy 1G
RS530508947 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Alstrom syndrome
RS530511188 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS530517316 BCHE Health Risk Pathogenic/Likely pathogenic Deficiency of butyrylcholinesterase, BCHE-related disorder
RS530520654 MYO7A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Autosomal recessive nonsyndromic hearing loss 2
RS530529988 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS530533430 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS530537278 RPS19 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia, Diamond-Blackfan anemia 1
RS530537991 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS530540257 AP4B1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Inborn genetic diseases
RS530549178 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Inborn genetic diseases
RS530551814 CNGB1 Health Risk Pathogenic —
RS530553915 MMADHC Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria and homocystinuria type cblD, Disorders of Intracellular Cobalamin Metabolism
RS530569305 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Autosomal dominant familial acute myeloid leukemia
RS530569572 CPLANE1 Health Risk Pathogenic Joubert syndrome 17, Orofaciodigital syndrome type 6
RS530570306 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS530570673 DNAH1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 18, Ciliary dyskinesia
RS530572005 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS530576939 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, Inborn genetic diseases
RS530587789 KCNJ5 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS530590989 AKT3 Health Risk Conflicting classifications of pathogenicity Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
RS530591432 LEMD3 Health Risk Conflicting classifications of pathogenicity Dermatofibrosis lenticularis disseminata, Dermatofibrosis lenticularis disseminata
RS530593118 PDE6C Health Risk Conflicting classifications of pathogenicity —
RS530596364 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
RS530603992 SNTA1 Health Risk Conflicting classifications of pathogenicity Ventricular fibrillation, paroxysmal familial
RS530612385 KCNQ1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Long QT syndrome
RS530613857 THPO Health Risk Conflicting classifications of pathogenicity Thrombocythemia 1, Inborn genetic diseases
RS530614586 EGR2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS530625182 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS530647574 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS530653041 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS530655602 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS530670052 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, APC-related disorder
RS530672259 SRCAP Health Risk Conflicting classifications of pathogenicity Floating-Harbor syndrome, Developmental delay
RS530679736 ERCC8 Health Risk Pathogenic/Likely pathogenic ERCC8-related disorder, Cockayne syndrome type 1
RS530680231 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS530685019 ZNF469 Health Risk Conflicting classifications of pathogenicity —
RS530692211 LAMB3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Inborn genetic diseases
RS530697513 POLG2 Health Risk Conflicting classifications of pathogenicity —
RS530700201 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Complex neurodevelopmental disorder
RS530700420 MYO7A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS530701227 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Cardiovascular phenotype
RS530710210 AUH Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria type 1, 3-methylglutaconic aciduria type 1
RS530717933 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS530717943 WNT10A Health Risk Likely pathogenic Tooth agenesis, selective
RS530719719 DUOX2 Health Risk Pathogenic/Likely pathogenic Familial thyroid dyshormonogenesis, Inborn genetic diseases
RS530720576 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS530720914 CA4 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 17, CA4-related disorder
RS530727340 CTNNA3 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13
RS530734300 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
RS530735519 TNC Health Risk Conflicting classifications of pathogenicity —
RS530736554 DUOX2 Health Risk Conflicting classifications of pathogenicity DUOX2-related disorder, Thyroid dyshormonogenesis 6
RS530738094 SLC45A2 Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 4, SLC45A2-related disorder
RS530739140 SETBP1 Health Risk Conflicting classifications of pathogenicity —
RS530739375 ANKRD1 Health Risk Conflicting classifications of pathogenicity ANKRD1-related dilated cardiomyopathy, Cardiovascular phenotype
RS530749007 PROM1 Health Risk Pathogenic Retinitis pigmentosa 41, Retinal dystrophy
RS530762140 PEX16 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 8A (Zellweger), PEX16-related disorder
RS530772984 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS530780611 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Coffin-Siris syndrome 1
RS530783345 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS530791761 DMXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nonsyndromic genetic hearing loss
RS530793570 HSD3B7 Health Risk Pathogenic —
RS530801101 ANKRD26 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS530808102 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, COL18A1-related disorder
RS530810462 TJP2 Health Risk Conflicting classifications of pathogenicity —
RS530814648 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS530824367 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS530830788 GFPT1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 12, Inborn genetic diseases
RS530831319 DIAPH1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 1, DIAPH1-related disorder
RS530832015 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS530834583 SEC23B Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II
RS530866854 COL6A3 Health Risk Likely pathogenic Ullrich congenital muscular dystrophy 1A, Ullrich congenital muscular dystrophy 1A
RS530867627 GLE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS530867686 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy
RS530872313 NEFH Health Risk Conflicting classifications of pathogenicity Peripheral neuropathy, Charcot-Marie-Tooth disease axonal type 2CC
RS530872564 BTD Health Risk Pathogenic/Likely pathogenic Biotinidase deficiency, BTD-related disorder
RS530874854 OTOG Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS530880273 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS530880623 PEX16 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS530882236 TBX5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Aortic valve disease 2
RS530891983 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2D, Charcot-Marie-Tooth disease type 2
RS530892254 MARVELD2 Health Risk Conflicting classifications of pathogenicity —
RS530896300 OPA1 Health Risk Conflicting classifications of pathogenicity Optic atrophy, Optic atrophy
RS530910180 NR2F1 Health Risk Likely pathogenic —
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