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
RS1454297839 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
RS145430692 SGCD Health Risk Conflicting classifications of pathogenicity Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F
RS145430714 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax
RS145430883 PUS1 Health Risk Conflicting classifications of pathogenicity Myopathy, lactic acidosis
RS145430946 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS145431655 LRP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145433186 CHRNG Health Risk Conflicting classifications of pathogenicity Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS145433823 PRMT7 Health Risk Conflicting classifications of pathogenicity —
RS145434331 C9 Health Risk Pathogenic Complement component 9 deficiency, Complement component 9 deficiency
RS145434723 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS145434725 FGFR1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS1454368792 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 8
RS1454370746 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS145437410 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS145438423 FASTKD2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS145438428 GJB6 Health Risk Conflicting classifications of pathogenicity Hidrotic ectodermal dysplasia syndrome, Autosomal recessive nonsyndromic hearing loss 1B
RS145438758 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS145438764 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS1454398092 ERCC1 Health Risk Likely pathogenic —
RS145440700 MTOR Health Risk Conflicting classifications of pathogenicity MTOR-related disorder, MTOR-related disorder
RS1454408814 GCK Health Risk Likely risk allele Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1454412918 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS1454417236 XRCC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1454428915 B3GAT3 Health Risk Conflicting classifications of pathogenicity Larsen-like syndrome, B3GAT3 type
RS1454430871 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1454432774 ALAD Health Risk Likely pathogenic —
RS1454438150 PHYH Health Risk Pathogenic —
RS145443888 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome 9, Meckel syndrome
RS1454439049 PDHB Health Risk Likely pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS1454442286 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS145444830 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Colorectal adenoma
RS145444931 BFSP2 Health Risk Conflicting classifications of pathogenicity Cataract 12 multiple types, BFSP2-related disorder
RS1454450104 TK2 Health Risk Pathogenic Mitochondrial DNA depletion syndrome, myopathic form
RS145445063 AFF4 Health Risk Conflicting classifications of pathogenicity Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome, Inborn genetic diseases
RS145445140 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS145445372 FHL1 Health Risk Likely pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS145445629 NEUROD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145446060 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS145446412 RNU4ATAC Health Risk Conflicting classifications of pathogenicity RNU4ATAC-related disorder, RNU4ATAC-related disorder
RS145446438 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia
RS1454466097 CHD8 Health Risk Pathogenic Intellectual developmental disorder with autism and macrocephaly, Autism spectrum disorder
RS145446970 AAAS Health Risk Pathogenic Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
RS1454474832 BBS9 Health Risk Likely pathogenic Bardet-Biedl syndrome 9, BBS9-related disorder
RS145447555 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiomyopathy
RS1454477626 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS145447965 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS145448362 USH1G Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1G, Optic atrophy
RS145448880 RFXANK Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, Inborn genetic diseases
RS145449046 CFTR Health Risk Pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS145449060 TSPAN12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TSPAN12-related disorder
RS1454496778 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Majeed syndrome
RS1454498033 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1454499969 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS145450812 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS145450943 PTPN23 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145451123 AFG2B Health Risk Pathogenic/Likely pathogenic SPATA5L1-associated disorder, Hearing loss
RS1454512341 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1454512890 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS1454517884 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS145452809 NAGLU Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS1454530658 LTBP2 Health Risk Pathogenic —
RS145453157 VIPAS39 Health Risk Conflicting classifications of pathogenicity Arthrogryposis, renal dysfunction
RS1454542532 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1454552122 EPM2A Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Lafora disease
RS145456588 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome
RS1454572839 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS145457535 DNAAF19 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 17, Primary ciliary dyskinesia
RS145457604 RFXANK Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS145458355 DNAH17 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1454587963 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1454595224 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, CBL-related disorder
RS145459571 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS145460295 TTN Health Risk Conflicting classifications of pathogenicity —
RS1454603838 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS145460760 LRP4 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 17, Sclerosteosis 2
RS145460785 LAMA3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa gravis of Herlitz, Laryngo-onycho-cutaneous syndrome
RS145461325 C5 Health Risk Conflicting classifications of pathogenicity C5-related disorder, Gastric cancer
RS1454630791 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS1454632203 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS145463632 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Inborn genetic diseases
RS145463677 ITGA7 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS1454639285 DST Health Risk Likely pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS145464247 LAMB3 Health Risk Likely pathogenic Abnormality of the skin, Abnormality of the skin
RS145464311 FBN1 Health Risk Conflicting classifications of pathogenicity 8 conditions, Familial thoracic aortic aneurysm and aortic dissection
RS145465364 DNMT3A Health Risk Likely pathogenic —
RS145465720 LAMB2 Health Risk Conflicting classifications of pathogenicity Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS145465905 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS145465919 AGA Health Risk Conflicting classifications of pathogenicity Aspartylglucosaminuria, Inborn genetic diseases
RS1454665394 LZTR1 Health Risk Pathogenic —
RS145466894 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS145466944 GHRHR Health Risk Conflicting classifications of pathogenicity Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB
RS1454672768 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1454680088 ABCC2 Health Risk Pathogenic —
RS145468090 USH2A Health Risk Conflicting classifications of pathogenicity —
RS1454692506 F8 Health Risk Pathogenic —
RS145469545 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 13
RS1454698596 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1454703878 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS1454706390 SLC26A2 Health Risk Pathogenic Achondrogenesis, type IB
RS145470870 ACSF3 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia, Combined malonic and methylmalonic acidemia
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