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
RS115035890 DOCK6 Health Risk Conflicting classifications of pathogenicity DOCK6-related disorder, DOCK6-related disorder
RS115041708 RIPK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS115042043 LOXHD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS115042730 INVS Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Infantile nephronophthisis
RS115046538 STX16 Health Risk Conflicting classifications of pathogenicity Pseudohypoparathyroidism type 1B, Inborn genetic diseases
RS115047866 MRPS7 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation deficiency 34, See cases
RS115049252 MTHFR Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Inborn genetic diseases
RS115052399 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS115063639 HSD17B3 Health Risk Pathogenic/Likely pathogenic Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
RS115065523 CENPE Health Risk Conflicting classifications of pathogenicity —
RS115065877 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS115066564 CACNA1D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CACNA1D-related disorder
RS115072194 NEFH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NEFH-related disorder
RS115073082 COG7 Health Risk Conflicting classifications of pathogenicity COG7 congenital disorder of glycosylation, COG7-related disorder
RS115074675 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS115076370 PARD3 Health Risk Conflicting classifications of pathogenicity —
RS115079861 RMND1 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 11, Mitochondrial disease
RS115099192 GATA4 Health Risk Conflicting classifications of pathogenicity Tetralogy of Fallot, Ventricular septal defect 1
RS115108794 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 8, Osteogenesis Imperfecta
RS115109161 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS115109291 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Inborn genetic diseases
RS115111282 SLC26A2 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IB
RS115113440 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS115116398 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS115119858 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS115120891 KCNJ10 Health Risk Conflicting classifications of pathogenicity EAST syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS115126975 GABRG2 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE
RS115129687 BCHE Health Risk Pathogenic Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS115130936 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS115144373 ESCO2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Roberts-SC phocomelia syndrome
RS115145637 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS115149211 FREM2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS115150240 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS115153488 SOS1 Health Risk Conflicting classifications of pathogenicity Fibromatosis, gingival
RS115155458 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS115155934 FKTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS115156486 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases
RS115164694 TNFRSF1A Health Risk Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS), Autoinflammatory syndrome
RS115169993 DDR2 Health Risk Conflicting classifications of pathogenicity DDR2-related disorder, Warburg-cinotti syndrome
RS115184652 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related disorder
RS115193744 GATAD2B Health Risk Conflicting classifications of pathogenicity Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS115193764 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Carcinoma of colon
RS115195927 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS115195998 TMEM67 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS115198029 CRTAP Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta
RS115198308 PHYH Health Risk Conflicting classifications of pathogenicity Phytanic acid storage disease, Phytanic acid storage disease
RS115198722 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS115199093 PLOD2 Health Risk Conflicting classifications of pathogenicity PLOD2-related disorder, PLOD2-related disorder
RS115199914 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS115200412 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS115203053 ACO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ACO2-related disorder
RS115206553 DGUOK Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), DGUOK-related disorder
RS115209243 PIGC Health Risk Conflicting classifications of pathogenicity Glycosylphosphatidylinositol biosynthesis defect 16, Glycosylphosphatidylinositol biosynthesis defect 16
RS115209326 FNIP1 Health Risk Conflicting classifications of pathogenicity Uterine corpus endometrial carcinoma, Familial cancer of breast
RS115212523 EPCAM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS115220304 RFXANK Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, RFXANK-related disorder
RS115223836 TMPRSS3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS115226995 TFAP2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TFAP2B-related disorder
RS115227204 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS115230292 UTRN Health Risk Conflicting classifications of pathogenicity —
RS115230894 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia 1
RS115231482 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS115238711 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 11, Usher syndrome type 1
RS115239207 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS115246141 CNGB3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 3, Severe early-childhood-onset retinal dystrophy
RS115246424 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS115248068 ANK1 Health Risk Conflicting classifications of pathogenicity Spherocytosis, Hereditary spherocytosis type 1
RS115252223 PKD2L1 Health Risk Conflicting classifications of pathogenicity —
RS115259839 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS115260724 P2RX2 Health Risk Conflicting classifications of pathogenicity P2RX2-related disorder, P2RX2-related disorder
RS115263899 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS115265574 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome
RS115272158 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS115272639 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS115273369 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, KCNMA1-related disorder
RS115275492 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS115282473 SLC6A3 Health Risk Conflicting classifications of pathogenicity Parkinsonism-dystonia, infantile
RS115282699 HOGA1 Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS115286894 ROS1 Health Risk Conflicting classifications of pathogenicity —
RS115287026 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ALPK3-related disorder
RS115295826 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS115297652 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS115298512 CFHR4 Health Risk Conflicting classifications of pathogenicity —
RS115298665 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, WRN-related disorder
RS115299174 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS115299472 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 9
RS115303497 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS115308424 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS115310278 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS115317386 LCA5 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS115320113 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS115321388 DNAH7 Health Risk Conflicting classifications of pathogenicity —
RS115324411 INVS Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Inborn genetic diseases
RS115327470 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS115328026 MCCC2 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 2 deficiency, MCCC2-related disorder
RS115328064 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS115330112 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Autoinflammatory syndrome
RS115333628 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS115344041 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS115347084 RUNX2 Health Risk Conflicting classifications of pathogenicity —
« Prev 1 ... 174 175 176 177 178 179 180 ... 4509 Next »

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

Get Started Free →