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
RS751458185 HSPG2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751458617 NEU1 Health Risk Likely pathogenic Sialidosis, Sialidosis type 2
RS751459058 FARS2 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 14, Hereditary spastic paraplegia 77
RS751459271 POLR3B Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Inborn genetic diseases
RS751459281 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS751459908 CANT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751460221 PROM1 Health Risk Pathogenic —
RS751460831 ACO2 Health Risk Pathogenic ACO2-related disorder, ACO2-related disorder
RS751460863 SMS Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability Snyder type, Inborn genetic diseases
RS751461388 GNPTAB Health Risk Pathogenic Mucolipidosis, Mucolipidosis
RS751461705 ARSG Health Risk Pathogenic Usher syndrome, type 4
RS751464024 CBS Health Risk Likely pathogenic Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS751464413 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Inborn genetic diseases
RS751465004 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS751465048 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS751465593 POLE Health Risk Conflicting classifications of pathogenicity Intrauterine growth retardation, metaphyseal dysplasia
RS751466510 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS751466686 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS751466815 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, SGCA-related disorder
RS751468762 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS751468976 EIF2S3 Health Risk Likely pathogenic MEHMO syndrome, MEHMO syndrome
RS751469553 ESCO2 Health Risk Pathogenic —
RS751470049 CHST3 Health Risk Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS751470493 HSD3B2 Health Risk Conflicting classifications of pathogenicity 3 beta-Hydroxysteroid dehydrogenase deficiency, HSD3B2-related disorder
RS751470649 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS751471043 CD36 Health Risk Pathogenic See cases, See cases
RS751471386 ARL2BP Health Risk Likely pathogenic Retinitis pigmentosa with or without situs inversus, Retinitis pigmentosa with or without situs inversus
RS751472475 NDUFS2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS751472610 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2
RS751473506 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS751473818 FKTN Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype
RS751475729 SPEN Health Risk Conflicting classifications of pathogenicity Radio-Tartaglia syndrome, Radio-Tartaglia syndrome
RS751475855 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS751477326 TP53 Health Risk Pathogenic/Likely pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS751477334 PNPO Health Risk Pathogenic Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
RS751477523 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS751477540 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS751478115 SCUBE3 Health Risk Pathogenic/Likely pathogenic Abnormality of the dentition, Abnormal facial shape
RS751478142 HSPA9 Health Risk Pathogenic Even-plus syndrome, Even-plus syndrome
RS751478782 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS751479180 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome
RS751482122 SCO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751482231 RBBP8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751482282 RHBDF2 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases
RS751483486 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS751484278 EMC1 Health Risk Likely pathogenic Cerebellar atrophy, visual impairment
RS751484879 BCS1L Health Risk Pathogenic/Likely pathogenic GRACILE syndrome, Pili torti-deafness syndrome
RS75148532 ABCC2 Health Risk Conflicting classifications of pathogenicity ABCC2-related disorder, ABCC2-related disorder
RS751486476 CLN6 Health Risk Conflicting classifications of pathogenicity Ceroid lipofuscinosis, neuronal
RS751486617 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS751488725 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS751490043 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS751490881 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS751491596 PACS1 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases
RS751492244 CFAP206 Health Risk Pathogenic Abnormal sperm tail morphology, Abnormal sperm tail morphology
RS751493277 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS751494076 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS751494785 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS751494861 SLC12A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 34
RS751495086 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS751495618 FGFR2 Health Risk Conflicting classifications of pathogenicity FGFR2-related craniosynostosis, FGFR2-related craniosynostosis
RS751496223 CLN5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS751496558 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Amyotrophic lateral sclerosis
RS751497896 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS751499706 ATAD1 Health Risk Pathogenic/Likely pathogenic Hyperekplexia 4, Hyperekplexia 4
RS751501857 PRKAR1A Health Risk Conflicting classifications of pathogenicity Carney complex, type 1
RS751502450 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS751502842 TTN Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS751503394 RECQL4 Health Risk Likely pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS751505614 GCK Health Risk Pathogenic —
RS751506204 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, PEX1-related disorder
RS751506325 CR2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS751507296 ACADS Health Risk Conflicting classifications of pathogenicity Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS751507771 PEX26 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS751507887 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases
RS751507915 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS751509135 NEDD4L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751509404 ANKS6 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 16, Inborn genetic diseases
RS751511116 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS751511204 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS751511532 USP53 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS751511778 PPOX Health Risk Conflicting classifications of pathogenicity Variegate porphyria, Variegate porphyria
RS751511835 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS751512442 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, Fibrochondrogenesis 1
RS751512548 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS751513015 GLI2 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS751513869 NFKBIA Health Risk Conflicting classifications of pathogenicity Ectodermal dysplasia and immunodeficiency 2, NFKBIA-related disorder
RS751514645 SCN1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, Inborn genetic diseases
RS751515136 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS751515174 CANT1 Health Risk Pathogenic —
RS751515818 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS751516224 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS751516838 JAG1 Health Risk Conflicting classifications of pathogenicity Isolated Nonsyndromic Congenital Heart Disease, Alagille syndrome due to a JAG1 point mutation
RS751517725 TMEM67 Health Risk Pathogenic Joubert syndrome 6, Joubert syndrome
RS751518356 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS751519679 DDC Health Risk Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS751520054 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, Congenital microvillous atrophy
RS75152012 ALB Health Risk Pathogenic Analbuminemia, Analbuminemia
RS751520590 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS751521888 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 1, Cone-rod dystrophy 13
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