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
RS756329385 WDR19 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS756329704 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS756331568 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related myopathy
RS756332498 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS756332675 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS756332789 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS756333430 IDH3A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 90, Retinitis pigmentosa 90
RS756335904 RP1L1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756335940 TRPM1 Health Risk Pathogenic —
RS756336099 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS756336949 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS756337302 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Ehlers-Danlos syndrome
RS756337473 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS756337758 AARS1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS756338119 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS756339433 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia, Cardiovascular phenotype
RS756339648 TTN Health Risk Pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS756339822 NDUFAF3 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS756339957 ASL Health Risk Pathogenic/Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS756341043 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, Retinal cone dystrophy 4
RS756341143 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Woolly hair-skin fragility syndrome
RS756341249 ARL6 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 3, Retinitis pigmentosa 55
RS756341605 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 6
RS756341923 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G
RS756342135 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS756342212 ENG Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS756343304 TSEN54 Health Risk Conflicting classifications of pathogenicity Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 4
RS756344458 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS756344990 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS756345976 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS756345989 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS756346998 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Attenuated familial adenomatous polyposis
RS756347672 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS756347993 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS756348570 KIF5A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 10, Spastic paraplegia
RS756348656 FBN2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Congenital contractural arachnodactyly
RS756350869 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS756351856 TAF15 Health Risk Conflicting classifications of pathogenicity —
RS756352033 ASPRV1 Health Risk Pathogenic Autosomal dominant lamellar ichthyosis, Autosomal dominant lamellar ichthyosis
RS756352186 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS756352775 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS756352952 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS756353660 CLCN1 Health Risk Conflicting classifications of pathogenicity Batten-Turner congenital myopathy, Congenital myotonia
RS756353784 FLG Health Risk Likely pathogenic Dermatitis, atopic
RS756353876 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS756355930 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS756357907 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS756358402 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS756358409 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS756358866 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS756360188 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS756360226 KCNQ2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS756360361 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2
RS756360655 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Type 2 collagenopathy
RS756361030 TRAPPC12 Health Risk Pathogenic Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
RS756361248 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS756361392 SLC26A2 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IB
RS756361785 LOXHD1 Health Risk Conflicting classifications of pathogenicity —
RS756362905 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS756363516 ASL Health Risk Pathogenic/Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS756363734 NBN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS756363870 PYCR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive cutis laxa type 2B
RS756363927 SH3KBP1 Health Risk Conflicting classifications of pathogenicity —
RS756363951 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy
RS756364348 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS756365280 CHD7 Health Risk Conflicting classifications of pathogenicity Amenorrhea, Inborn genetic diseases
RS756366019 SMPD1 Health Risk Pathogenic/Likely pathogenic Sphingomyelin/cholesterol lipidosis, Niemann-Pick disease
RS756367182 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS756367276 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS756367933 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS756368261 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, KIF7-related disorder
RS756368560 MKS1 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS756368998 COX15 Health Risk Pathogenic —
RS756369937 GABRB3 Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence
RS756370084 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis 4
RS756370324 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS756372984 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS756374268 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS756376477 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 9
RS756377315 ITGB4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756377692 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Atrial septal defect 7
RS756378362 EPG5 Health Risk Likely pathogenic Vici syndrome, Vici syndrome
RS756378949 LRP5 Health Risk Pathogenic —
RS756379625 DOCK6 Health Risk Likely pathogenic —
RS756380512 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS756380526 BBS9 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS756382250 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS756382502 SDHC Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3
RS756384471 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS756384834 RAG1 Health Risk Likely pathogenic Combined immunodeficiency due to partial RAG1 deficiency, Severe combined immunodeficiency
RS756384880 AP4E1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS756385578 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, FG syndrome
RS756385625 CLCN2 Health Risk Pathogenic/Likely pathogenic Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Epilepsy
RS756386867 SRPX Health Risk Likely pathogenic Short stature, Short stature
RS756387018 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, CREBBP-related disorder
RS756387775 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS756388778 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Inborn genetic diseases
RS756389027 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS756389249 SPTBN1 Health Risk Pathogenic Developmental delay, impaired speech
RS756389970 PDE4D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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