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
RS747752349 LRP4 Health Risk Likely pathogenic LRP4-related disorder, LRP4-related disorder
RS747752633 CUL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747753013 TRAF3IP1 Health Risk Likely pathogenic —
RS747753156 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS747753388 TPK1 Health Risk Pathogenic/Likely pathogenic Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
RS747754623 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS747755806 CFI Health Risk Conflicting classifications of pathogenicity CFI-related disorder, CFI-related disorder
RS747756728 NF2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS747758069 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS74775944 CFAP65 Health Risk Conflicting classifications of pathogenicity Non-syndromic male infertility due to sperm motility disorder, Non-syndromic male infertility due to sperm motility disorder
RS747759524 GNAS Health Risk Conflicting classifications of pathogenicity GNAS-related disorder, GNAS-related disorder
RS747759906 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS747761045 AIRE Health Risk Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
RS747761762 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy
RS747762028 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS747762087 PDZRN3 Health Risk Likely pathogenic Short stature, Short stature
RS747762186 ALPL Health Risk Pathogenic/Likely pathogenic Infantile hypophosphatasia, Adult hypophosphatasia
RS747762398 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS747764475 HGD Health Risk Conflicting classifications of pathogenicity Alkaptonuria, Alkaptonuria
RS747768310 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS747768366 COL4A5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747768373 FIG4 Health Risk Pathogenic Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
RS747769277 COL7A1 Health Risk Pathogenic —
RS747769396 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747769504 DCTN1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 1, Perry syndrome
RS747771646 ATP8B1 Health Risk Conflicting classifications of pathogenicity —
RS747771951 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS747773227 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS747773771 ADAMTS18 Health Risk Pathogenic —
RS747774101 ADA2 Health Risk Pathogenic Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2
RS747774131 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS747774702 CYBA Health Risk Pathogenic Granulomatous disease, chronic
RS747777227 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS747777230 PMM2 Health Risk Pathogenic/Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS747778052 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS747779231 COQ4 Health Risk Pathogenic/Likely pathogenic Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, COQ4-related disorder
RS747781002 KARS1 Health Risk Conflicting classifications of pathogenicity —
RS747781875 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS747782128 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747783069 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy
RS747783371 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS747783435 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS747783902 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS747784568 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS747785443 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS74778545 CRB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CRB2-related disorder
RS747785577 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS747785888 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS747786336 LPL Health Risk Pathogenic —
RS747787770 COL11A1 Health Risk Pathogenic Hearing loss, autosomal dominant 37
RS747789493 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS747789567 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS747790197 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ovarian serous cystadenocarcinoma
RS747791200 WNK1 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C, Neuropathy
RS747791818 GOSR2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 6, Progressive myoclonic epilepsy
RS747791819 NRL Health Risk Pathogenic —
RS747794145 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS747794466 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS747794940 BICC1 Health Risk Conflicting classifications of pathogenicity —
RS747796744 DENND5A Health Risk Pathogenic —
RS74779744 ARHGAP24 Health Risk Conflicting classifications of pathogenicity ARHGAP24-related disorder, ARHGAP24-related disorder
RS747797803 APC Health Risk Conflicting classifications of pathogenicity Carcinoma of colon, Hereditary cancer-predisposing syndrome
RS747798210 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS747799051 TCF3 Health Risk Conflicting classifications of pathogenicity Agammaglobulinemia 8b, autosomal recessive
RS747800057 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS747800874 PROM1 Health Risk Conflicting classifications of pathogenicity —
RS747801924 EXOSC9 Health Risk Pathogenic —
RS747802164 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS747802606 CENPF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747802641 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS747802743 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS747803510 RCBTB1 Health Risk Pathogenic —
RS747804357 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS747805096 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS747805226 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS747805491 COL4A4 Health Risk Conflicting classifications of pathogenicity —
RS747805984 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS747806672 EDAR Health Risk Pathogenic Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A
RS747806875 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS747807491 IVD Health Risk Pathogenic/Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS747807631 GNE Health Risk Conflicting classifications of pathogenicity Sialuria, GNE myopathy
RS747807971 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS747808524 TP63 Health Risk Conflicting classifications of pathogenicity TP63-Related Spectrum Disorders, 8 conditions
RS747808820 MYOT Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 3, Myofibrillar myopathy 3
RS747809412 SGCB Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy
RS747810439 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS747810555 CYP1B1 Health Risk Likely pathogenic Glaucoma 3A, Glaucoma 3A
RS747810875 DLD Health Risk Pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS747812191 GLB1 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-B
RS747812567 IDH3B Health Risk Likely pathogenic —
RS747812668 ADGRG1 Health Risk Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria, ADGRG1-related disorder
RS747813139 CLCN2 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS747813425 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747815091 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 8
RS747815674 AGT Health Risk Pathogenic/Likely pathogenic Essential hypertension, genetic
RS747815682 CPLANE1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 17, Orofaciodigital syndrome type 6
RS747817359 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS747817752 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS747819910 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS747820097 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
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