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
RS191362319 TBX20 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 4, Atrial septal defect 4
RS191364028 STAT1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B
RS191365011 NR0B1 Health Risk Conflicting classifications of pathogenicity Congenital adrenal hypoplasia, X-linked
RS191369963 SBF1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4B3, Uterine corpus endometrial carcinoma
RS1913708075 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS191372051 SSX1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure, X-linked
RS191373374 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS191375566 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1913779276 MAF Health Risk Likely pathogenic Cataract 21 multiple types, Cataract 21 multiple types
RS191378148 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1913781557 MAF Health Risk Pathogenic/Likely pathogenic Ayme-Gripp syndrome, Cataract 21 multiple types
RS1913782042 MAF Health Risk Likely pathogenic —
RS191381310 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS191382529 COL10A1 Health Risk Conflicting classifications of pathogenicity —
RS191382767 ANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1913849770 RBBP8 Health Risk Pathogenic Jawad syndrome, Jawad syndrome
RS191386155 C6 Health Risk Pathogenic Complement component 6 deficiency, Complement component 6 deficiency
RS191389529 KCNQ4 Health Risk Conflicting classifications of pathogenicity —
RS191391831 GABRG2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, GABRG2-related disorder
RS191399467 PAX6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant keratitis, Aniridia 1
RS1914011596 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS191404689 ST14 Health Risk Conflicting classifications of pathogenicity ST14-related disorder, ST14-related disorder
RS1914081211 TUBB4A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1914085591 TUBB4A Health Risk Likely pathogenic —
RS1914101190 TUBB4A Health Risk Likely pathogenic —
RS1914104455 TUBB4A Health Risk Likely pathogenic Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS191412461 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS191420441 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Inborn genetic diseases
RS191421665 GNA11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS191426010 MRE11 Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1
RS191428830 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS191429370 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS191435594 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS191441658 KATNB1 Health Risk Conflicting classifications of pathogenicity —
RS191443556 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS1914445437 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS191451278 MKRN3 Health Risk Conflicting classifications of pathogenicity MKRN3-related disorder, Inborn genetic diseases
RS1914525410 TUBB4A Health Risk Likely pathogenic Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS191456345 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS191462023 GFM1 Health Risk Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS191465934 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS191466386 C5 Health Risk Likely pathogenic Complement component 5 deficiency, Eculizumab
RS191468413 HSD17B4 Health Risk Conflicting classifications of pathogenicity Perrault syndrome, Bifunctional peroxisomal enzyme deficiency
RS191471887 UGT1A1 Health Risk Conflicting classifications of pathogenicity Gilbert syndrome, Crigler-Najjar syndrome
RS1914769460 SMAD2 Health Risk Pathogenic/Likely pathogenic SMAD2-related disorder, SMAD2-related disorder
RS191484894 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Primary dilated cardiomyopathy
RS191486604 PRKN Health Risk Pathogenic/Likely pathogenic Autosomal recessive juvenile Parkinson disease 2, PRKN-related disorder
RS191491461 CDH15 Health Risk Conflicting classifications of pathogenicity —
RS191499757 PCLO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS191511427 WASHC4 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 43
RS191519947 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS191525506 PTPN11 Health Risk Conflicting classifications of pathogenicity LEOPARD syndrome 1, Noonan syndrome 1
RS191526202 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS191531119 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, PRKDC-related disorder
RS191532828 ACTN4 Health Risk Conflicting classifications of pathogenicity Kidney disorder, Kidney disorder
RS1915335064 MC4R Health Risk Pathogenic MC4R-related disorder, MC4R-related disorder
RS1915338291 MC4R Health Risk Likely pathogenic —
RS191534381 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS191535077 HBB Health Risk Conflicting classifications of pathogenicity —
RS191539637 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Myopathy
RS1915470891 JUP Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS191547933 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, SCN4A-related disorder
RS191549326 TENM4 Health Risk Conflicting classifications of pathogenicity —
RS191549948 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS191551032 TTN Health Risk Conflicting classifications of pathogenicity —
RS191557299 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS191563592 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Developmental disorder
RS191564916 DSC2;DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype
RS191566965 CPAMD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS191567701 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS191568463 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, OTOF-related disorder
RS191570676 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS191571748 MYH3 Health Risk Conflicting classifications of pathogenicity Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome
RS191573523 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Congenital portosystemic shunt
RS191573607 TK2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS191577774 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, PCDH15-related disorder
RS191579691 NEB Health Risk Pathogenic Nemaline myopathy, Nemaline myopathy 2
RS191582628 POLR1C Health Risk Pathogenic/Likely pathogenic Treacher Collins syndrome 3, Hypomyelinating leukodystrophy 11
RS1915827870 RBBP8 Health Risk Conflicting classifications of pathogenicity Jawad syndrome, Jawad syndrome
RS1915921460 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS191592668 CCBE1 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 1, CCBE1-related disorder
RS191594899 ODAD2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 23, Primary ciliary dyskinesia
RS191608083 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Inborn genetic diseases
RS191613017 CEP290 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS1916158060 JUP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Naxos disease
RS1916176553 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS191623874 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS191634088 TJP2 Health Risk Conflicting classifications of pathogenicity TJP2-related disorder, TJP2-related disorder
RS191645600 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Connective tissue disorder
RS191654621 ACBD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS191656121 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS191662816 OTOG Health Risk Conflicting classifications of pathogenicity OTOG-related disorder, OTOG-related disorder
RS191669043 ALG12 Health Risk Conflicting classifications of pathogenicity ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS191680997 IDH3B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, IDH3B-related disorder
RS191682072 KCNJ11 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 13, Diabetes mellitus
RS191682790 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 3
RS191699632 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS191708454 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS191710555 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS191711101 C12orf57 Health Risk Conflicting classifications of pathogenicity Temtamy syndrome, Temtamy syndrome
« Prev 1 ... 1325 1326 1327 1328 1329 1330 1331 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →