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
RS751781089 MSH4 Health Risk Likely pathogenic Non-obstructive azoospermia, Non-obstructive azoospermia
RS751781253 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS751781504 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS751782722 ERCC4 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group F
RS751782763 CDH4 Health Risk Conflicting classifications of pathogenicity —
RS751784955 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS751785066 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS751787202 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS751787590 ENG Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS751787816 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS751788298 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS751788327 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS751788879 CDH23 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Pituitary adenoma 5
RS751789670 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS751789834 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS751790458 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS751790521 RAPSN Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS751791095 ABCA4 Health Risk Pathogenic —
RS751792216 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS751794368 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS751795238 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS751795256 FANCM Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS751795794 FLNB Health Risk Conflicting classifications of pathogenicity —
RS751795987 COL1A2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Osteogenesis imperfecta type I
RS751796325 ATL1 Health Risk Likely pathogenic —
RS751797884 GSS Health Risk Pathogenic Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria
RS751798253 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS751798471 SH3BP2 Health Risk Conflicting classifications of pathogenicity Fibrous dysplasia of jaw, Fibrous dysplasia of jaw
RS751798708 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS751798987 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS751799266 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS751800062 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS751802785 PCLO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751802868 ACBD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS75180385 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS751803871 TYMP Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS751804284 MMUT Health Risk Conflicting classifications of pathogenicity —
RS751804613 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Cardiovascular phenotype
RS751804837 CD36 Health Risk Likely pathogenic Platelet-type bleeding disorder 10, Platelet-type bleeding disorder 10
RS751805500 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS751807811 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS751808345 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Familial hemiplegic migraine
RS751809412 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS751809418 HACE1 Health Risk Pathogenic Spastic paraplegia-severe developmental delay-epilepsy syndrome, Spastic paraplegia-severe developmental delay-epilepsy syndrome
RS751809435 PTPN23 Health Risk Conflicting classifications of pathogenicity Global developmental delay, Brain atrophy
RS751809792 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS751809997 NPHS1 Health Risk Pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS751810874 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS751810893 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS751812338 PPARG Health Risk Conflicting classifications of pathogenicity —
RS751812984 GPD1L Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS751813170 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related myopathy
RS751815253 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751815309 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751815828 STAR Health Risk Pathogenic —
RS751817675 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS751818062 MKS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 13, Bardet-Biedl syndrome 13
RS751818701 AHDC1 Health Risk Conflicting classifications of pathogenicity AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, Inborn genetic diseases
RS751818903 ADAMTS18 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS751819044 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS751819645 COX15 Health Risk Conflicting classifications of pathogenicity Cardioencephalomyopathy, fatal infantile
RS751820545 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS751821289 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS751822337 GUCY2D Health Risk Likely pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS751822516 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS751822565 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS751822606 OCA2 Health Risk Conflicting classifications of pathogenicity —
RS751822769 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS751823180 AHI1 Health Risk Pathogenic Joubert syndrome 3, Joubert syndrome 1
RS751823989 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS751824761 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, FBN2-related disorder
RS751825185 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS751825784 CACNA1G Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751826777 ABCC8 Health Risk Pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS751828098 NPHP3 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS751828447 SLC35C1 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency type II, Leukocyte adhesion deficiency type II
RS751828470 MMACHC;PRDX1 Health Risk Pathogenic METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
RS751829128 PHOX2B Health Risk Conflicting classifications of pathogenicity Congenital central hypoventilation, Neuroblastoma
RS751829413 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS751829426 PEX1 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B
RS751830146 SMC5 Health Risk Pathogenic Atelis syndrome 2, Atelis syndrome 2
RS75183025 FOXRED1 Health Risk Conflicting classifications of pathogenicity FOXRED1-related disorder, FOXRED1-related disorder
RS751831606 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 4
RS751832374 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751833826 MTRR Health Risk Likely pathogenic Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE
RS751834233 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Lymphangiomyomatosis
RS751834545 RAG1 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS751838040 ERCC6 Health Risk Pathogenic/Likely pathogenic Cockayne syndrome type 2, DE SANCTIS-CACCHIONE SYNDROME
RS751838091 WHRN Health Risk Likely pathogenic Usher syndrome, Usher syndrome
RS751838285 STRA6 Health Risk Likely pathogenic Matthew-Wood syndrome, Matthew-Wood syndrome
RS751838296 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS751839903 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS751840434 NKAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751840512 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS751840699 TMEM231 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 11
RS751842443 CHRNA2 Health Risk Likely pathogenic —
RS75184268 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS751844313 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Stargardt disease
RS751844801 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 14, Primary ciliary dyskinesia
RS751844947 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases
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