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
RS368934219 AARS2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Combined oxidative phosphorylation defect type 8
RS368934543 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS368936457 HSPB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2F
RS368936546 NPRL3 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS368938309 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS368939471 BCOR Health Risk Conflicting classifications of pathogenicity Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS368940355 NEK1 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short rib-polydactyly syndrome
RS368940455 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS368941189 PIGQ Health Risk Conflicting classifications of pathogenicity Epilepsy, Inborn genetic diseases
RS368942024 MOCS1 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS368942722 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS368943553 UMOD Health Risk Conflicting classifications of pathogenicity Familial juvenile hyperuricemic nephropathy type 1, Inborn genetic diseases
RS368943794 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, FANCA-related disorder
RS368943864 PNPO Health Risk Conflicting classifications of pathogenicity Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
RS368943871 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS368944209 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, CYP11B1-related disorder
RS368944274 GLB1 Health Risk Conflicting classifications of pathogenicity GM1 gangliosidosis, Mucopolysaccharidosis
RS368944813 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS368945564 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS368945951 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS368946956 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D
RS368947038 OTOF Health Risk Pathogenic —
RS368948089 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS368948099 VPS53 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368949613 ACAD9 Health Risk Pathogenic/Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Mitochondrial complex I deficiency
RS368949953 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
RS368951498 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS368952892 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS368952984 OBSL1 Health Risk Conflicting classifications of pathogenicity OBSL1-related disorder, OBSL1-related disorder
RS368953286 POLR3B Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Charcot-Marie-Tooth disease
RS368953287 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS368953604 PIGO Health Risk Pathogenic/Likely pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS368956195 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS368956978 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS368957150 ALMS1 Health Risk Uncertain significance/Uncertain risk allele Monogenic diabetes, Alstrom syndrome
RS368957257 FKBP10 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS368957453 HYAL1 Health Risk Conflicting classifications of pathogenicity Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
RS368959634 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS368959723 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS368959759 CHRNA1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Lethal multiple pterygium syndrome
RS368960575 PDHX Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency
RS368960604 SEC23B Health Risk Pathogenic Congenital dyserythropoietic anemia, type II
RS368961102 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS368961588 GABRD Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Idiopathic generalized epilepsy
RS368962905 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS368963039 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS368963384 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS368963607 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS368964652 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS368965386 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, Spondylocarpotarsal synostosis syndrome
RS368965566 REEP1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 31, Inborn genetic diseases
RS368965675 FBXL4 Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS368965952 MAGEL2 Health Risk Conflicting classifications of pathogenicity Schaaf-Yang syndrome, Schaaf-Yang syndrome
RS368967111 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS368967197 TTN Health Risk Conflicting classifications of pathogenicity —
RS368967911 DUOX2 Health Risk Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS368967997 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS368969256 IL12RB1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS368969893 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS368970025 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS368970223 ANO5 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy, Gnathodiaphyseal dysplasia
RS368970459 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Pendred syndrome
RS368971586 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS368973334 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS368973524 AEBP1 Health Risk Conflicting classifications of pathogenicity AEBP1-related disorder, AEBP1-related disorder
RS368974927 SIX1 Health Risk Conflicting classifications of pathogenicity Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23
RS368975092 POMT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS368975126 NR1H4 Health Risk Conflicting classifications of pathogenicity —
RS368975225 RAI1 Health Risk Conflicting classifications of pathogenicity Smith-Magenis syndrome, Inborn genetic diseases
RS368975704 DUOX2 Health Risk Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS368976628 HADHA Health Risk Conflicting classifications of pathogenicity Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS368976749 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS368977441 PRPF31 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 11, Inborn genetic diseases
RS368977589 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS368978109 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS368979094 CHRNA1 Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS368979510 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS368979713 ACAN Health Risk Conflicting classifications of pathogenicity —
RS368980118 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiac arrhythmia
RS368980166 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS368980249 TRPS1 Health Risk Conflicting classifications of pathogenicity Trichorhinophalangeal syndrome, type III
RS368980595 RAD50 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS368981218 FKTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy
RS368982417 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS368982547 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, Cutis laxa
RS368983547 HSPG2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368983807 GNPTG Health Risk Likely pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS368984079 KDM6A Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 2, Inborn genetic diseases
RS368984997 CEP290 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Joubert syndrome
RS368984998 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS368985469 RARS2 Health Risk Pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS368985605 ABCB11 Health Risk Conflicting classifications of pathogenicity —
RS368985748 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS368986092 ERLIN2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS368986242 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 39, Usher syndrome type 2A
RS368986524 MUC5B Health Risk Conflicting classifications of pathogenicity Colon adenocarcinoma, Colon adenocarcinoma
RS368987984 DVL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368988689 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS368989339 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related disorder
RS368989581 MTTP Health Risk Conflicting classifications of pathogenicity Abetalipoproteinaemia, Abetalipoproteinaemia
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