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
RS762793049 KMT2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762794153 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS762794527 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS762794821 MYLK Health Risk Likely pathogenic Aortic aneurysm, familial thoracic 7
RS762795511 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS762795756 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia 7
RS762795868 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS762796240 SCO2 Health Risk Pathogenic/Likely pathogenic Cardioencephalomyopathy, fatal infantile
RS762796464 DPAGT1 Health Risk Conflicting classifications of pathogenicity DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13
RS762796465 GNE Health Risk Pathogenic/Likely pathogenic GNE myopathy, Sialuria
RS762797016 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS762797278 LARS2 Health Risk Pathogenic Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
RS762798018 MSTO1 Health Risk Conflicting classifications of pathogenicity Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
RS762798984 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS762804216 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS762804291 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS762804357 SETBP1 Health Risk Conflicting classifications of pathogenicity —
RS762804574 EEF1A2 Health Risk Likely pathogenic —
RS762805265 CDH23 Health Risk Pathogenic Retinal dystrophy, Pituitary adenoma 5
RS762806573 COL18A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762806617 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS762806915 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS762808143 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Seizures
RS762808367 SETX Health Risk Pathogenic —
RS762808690 DES Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1I, Cardiovascular phenotype
RS762809403 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS762809900 PDE6C Health Risk Conflicting classifications of pathogenicity Achromatopsia, Cone dystrophy 4
RS762809955 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS762810203 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS762810343 MOCS1 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS762810380 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS762810555 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS762811521 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS762811727 ALG8 Health Risk Pathogenic/Likely pathogenic Polycystic liver disease 3 with or without kidney cysts, ALG8 congenital disorder of glycosylation
RS762812025 SDHB Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Gastrointestinal stromal tumor
RS762812157 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS762812608 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS762813092 YARS2 Health Risk Conflicting classifications of pathogenicity Myopathy, lactic acidosis
RS762813218 GLE1 Health Risk Pathogenic —
RS762813373 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS762814792 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS762814879 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome 1
RS762815611 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS762815657 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2A (Zellweger), Peroxisome biogenesis disorder 2B
RS762816338 RELT Health Risk Pathogenic Amelogenesis imperfecta, type 3C
RS762817061 IFT140 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Saldino-Mainzer syndrome
RS762817385 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS762817852 EPHB4 Health Risk Pathogenic/Likely pathogenic Hereditary lymphedema type I, Hereditary lymphedema type I
RS762818044 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS762818441 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS762819541 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS762820678 DLL4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762821420 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS762821474 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS762821714 SETBP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 29
RS762821794 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS762823337 ABCA4 Health Risk Likely pathogenic —
RS762824375 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS762824612 ABCB11 Health Risk Conflicting classifications of pathogenicity —
RS762825254 KRT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762825632 COL9A1 Health Risk Conflicting classifications of pathogenicity —
RS762826555 NEK8 Health Risk Pathogenic/Likely pathogenic Renal-hepatic-pancreatic dysplasia 2, Renal-hepatic-pancreatic dysplasia 2
RS762827140 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS762827742 FN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762828701 XRCC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group U
RS762828809 PHEX Health Risk Conflicting classifications of pathogenicity —
RS762829348 GUCY2C Health Risk Conflicting classifications of pathogenicity Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency, Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
RS762831481 SGCB Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS762831751 TUSC3 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation, Congenital disorder of glycosylation
RS76283214 SPTB Health Risk Conflicting classifications of pathogenicity SPTB-related disorder, SPTB-related disorder
RS762834512 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS762835866 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS762836110 GABRA1 Health Risk Conflicting classifications of pathogenicity —
RS762836610 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS762836620 HROB Health Risk Pathogenic/Likely pathogenic Premature ovarian insufficiency, Ovarian dysgenesis 11
RS762836841 ADAMTSL4 Health Risk Pathogenic —
RS762837293 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS762837543 MAK Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 62
RS762837582 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS762837601 TTC21B Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Nephronophthisis
RS762837979 TMEM231 Health Risk Pathogenic Joubert syndrome 20, Meckel syndrome
RS762838462 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS762841458 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS762841746 HNF1B Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS762842144 CEBPE Health Risk Conflicting classifications of pathogenicity Specific granule deficiency, Inborn genetic diseases
RS762842543 RAD50 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS762842997 CYP7B1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS762843285 DNAAF1 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 13
RS762844777 CFTR Health Risk Pathogenic Cystic fibrosis, CFTR-related disorder
RS762845449 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS762845573 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS762846821 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS762848021 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS762850669 SLC6A5 Health Risk Conflicting classifications of pathogenicity Hyperekplexia 3, Inborn genetic diseases
RS762851416 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS762851435 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, Leukodystrophy
RS762851661 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2O
RS762852144 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B
RS762852631 SLC12A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 34
RS762854920 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
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