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
RS763957669 SLC12A3 Health Risk Pathogenic —
RS763958615 ERLIN2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS763959308 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS763959604 CCDC78 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases
RS763960674 FAT4 Health Risk Conflicting classifications of pathogenicity FAT4-related disorder, Van Maldergem syndrome 2
RS763961289 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS763963623 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiovascular phenotype
RS763964671 HFM1 Health Risk Likely pathogenic Premature ovarian failure 9, Premature ovarian failure 9
RS763965257 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Rapadilino syndrome
RS763966000 TREX1 Health Risk Pathogenic Aicardi-Goutieres syndrome 1, Chilblain lupus 1
RS763966726 COMP Health Risk Conflicting classifications of pathogenicity —
RS763966860 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763967156 NPAT Health Risk Conflicting classifications of pathogenicity —
RS763967610 RPS29 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 13, Diamond-Blackfan anemia 13
RS763968231 MPDZ Health Risk Pathogenic —
RS763969133 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS763969166 NSD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763970235 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Myofibrillar myopathy 4
RS763971300 LDLRAP1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, LDLRAP1-related disorder
RS763971371 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS763971574 DSP Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic right ventricular dysplasia 8
RS763971677 GMPPB Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
RS763971799 RBCK1 Health Risk Conflicting classifications of pathogenicity Polyglucosan body myopathy type 1, Inborn genetic diseases
RS763972372 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS763972729 SMAD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763974538 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS763975565 DYNC2I2 Health Risk Pathogenic Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly
RS763975867 MYO15A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 3
RS763976244 NDUFV1 Health Risk Pathogenic —
RS763976313 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Familial cancer of breast
RS763977756 TRPM6 Health Risk Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS763978422 GP1BA Health Risk Pathogenic Bernard Soulier syndrome, Bernard-Soulier syndrome
RS763978514 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS763979844 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Hereditary cancer
RS763980789 CLN5 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS763982675 ATP6V0A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive distal renal tubular acidosis, ATP6V0A4-related disorder
RS763983337 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS763983499 PINK1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS763984813 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS763985746 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS763986208 TOP3A Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS763986788 SGCA Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS763986985 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases
RS763988041 SLC4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant distal renal tubular acidosis, Hemolytic anemia
RS763988265 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS763988476 FLG Health Risk Pathogenic Ichthyosis vulgaris, Ichthyosis vulgaris
RS763988639 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS763989940 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS763990023 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS763990034 SCO2 Health Risk Pathogenic —
RS763991073 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS763991246 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS763991433 WNT10B Health Risk Pathogenic Split hand-foot malformation 6, WNT10B-related disorder
RS763992299 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS763992407 INPP5E Health Risk Pathogenic/Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome
RS763992668 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS763992842 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS763993023 EMC1 Health Risk Pathogenic —
RS763993912 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Inborn genetic diseases
RS763994045 SMARCB1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS763994831 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype
RS763995767 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763996159 PDE6B Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS763996233 CREBBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CREBBP-related disorder
RS763997333 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SCN1A-related disorder
RS763997393 FBN2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Congenital contractural arachnodactyly
RS763998635 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS763999626 IMPDH1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 11
RS764000635 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP3-related disorder
RS764000877 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS764001564 FASN Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS764002833 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS764002893 PCK1 Health Risk Conflicting classifications of pathogenicity Phosphoenolpyruvate carboxykinase deficiency, cytosolic
RS764005069 MYO15A Health Risk Conflicting classifications of pathogenicity —
RS764006338 HADHB Health Risk Conflicting classifications of pathogenicity Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency 2
RS764006572 NOTCH1 Health Risk Likely pathogenic NOTCH1-related disorder, NOTCH1-related disorder
RS764006601 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS764007081 LOX Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS764007539 ERCC6L2 Health Risk Pathogenic ERCC6L2-related disorder, ERCC6L2-related disorder
RS764008354 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS764008859 FBXL3 Health Risk Pathogenic Intellectual disability, short stature
RS764009461 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS764009509 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS764010406 F5 Health Risk Pathogenic Congenital factor V deficiency, Congenital factor V deficiency
RS764011276 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS764011372 NR2F1 Health Risk Likely pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS764012209 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764012422 TMEM127 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS764013641 DUOX2 Health Risk Likely pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS764014106 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS764014190 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS764015186 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS764015648 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS764016097 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS764016208 DSC2 Health Risk Likely pathogenic —
RS764016240 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS764017933 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764018144 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS764018631 GUSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS764019241 CTC1 Health Risk Pathogenic/Likely pathogenic Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
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