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
RS755776820 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS755777005 TGM6 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 35, Spinocerebellar ataxia type 35
RS755777744 TG Health Risk Pathogenic —
RS755777807 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS755779040 CEP250 Health Risk Conflicting classifications of pathogenicity —
RS755780019 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS755780700 CSF2RB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755782051 RSPH4A Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS755782087 COLQ Health Risk Pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS755782127 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS755782924 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS755783122 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS755783378 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS755783618 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, Inborn genetic diseases
RS755783805 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, SOS2-related disorder
RS755786402 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS755786597 HIBCH Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS755786784 SLC39A8 Health Risk Conflicting classifications of pathogenicity SLC39A8-CDG, Inborn genetic diseases
RS755787013 LAMB2 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS755789146 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS755789450 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS755789696 RANBP2 Health Risk Conflicting classifications of pathogenicity Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
RS755790570 CFH Health Risk Pathogenic/Likely pathogenic Factor H deficiency, Atypical hemolytic-uremic syndrome
RS755791142 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS755791156 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS755791578 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS755791719 FGFR3 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS755791846 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS755792441 COL4A3 Health Risk Pathogenic —
RS755793186 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS755793521 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS755793630 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS755793871 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS755794886 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS755795110 SEC63 Health Risk Pathogenic/Likely pathogenic Autosomal dominant polycystic liver disease, Polycystic liver disease 2
RS755796609 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS755796820 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS755796920 NCF2 Health Risk Pathogenic —
RS755797350 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS755797374 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome 11
RS755797497 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS755798109 PRKAR1A Health Risk Conflicting classifications of pathogenicity Carney complex, type 1
RS755798626 TBCE Health Risk Pathogenic —
RS755799226 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS755799430 VSX2 Health Risk Pathogenic Anophthalmia-microphthalmia syndrome, VSX2-related Microphthalmia
RS755799528 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS755799702 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS755800734 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, CCM2-related disorder
RS755801203 CHD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755802114 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases
RS755802156 PRDM5 Health Risk Likely pathogenic Brittle cornea syndrome 2, Brittle cornea syndrome 2
RS755802373 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases
RS755803064 XPA Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS755804518 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS755804651 GPSM2 Health Risk Pathogenic/Likely pathogenic Deafness, Hearing loss
RS755805420 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS755805461 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS755806238 ACAT1 Health Risk Conflicting classifications of pathogenicity Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS755806405 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS755806449 VCAN Health Risk Conflicting classifications of pathogenicity Vitreoretinopathy, Inborn genetic diseases
RS755806668 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS755808099 MOCS1 Health Risk Pathogenic/Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS755809709 ABCG5 Health Risk Pathogenic Sitosterolemia, Sitosterolemia
RS75581470 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS755815057 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS755815612 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS755815669 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS755817220 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS755817854 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS755818010 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS755818414 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 14
RS755818826 ADGRV1 Health Risk Conflicting classifications of pathogenicity Hearing impairment, Hearing impairment
RS755820155 NEK8 Health Risk Likely pathogenic Renal-hepatic-pancreatic dysplasia 2, Renal-hepatic-pancreatic dysplasia 2
RS755820725 AP4S1 Health Risk Likely pathogenic Inborn genetic diseases, Spastic paraplegia
RS755821378 MYO15A Health Risk Conflicting classifications of pathogenicity MYO15A-related disorder, Inborn genetic diseases
RS755822013 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS755822321 TUBGCP4 Health Risk Pathogenic Microcephaly and chorioretinopathy 3, Microcephaly and chorioretinopathy 3
RS755822641 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS755823086 STAR Health Risk Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, STAR-related disorder
RS755823797 FLG Health Risk Pathogenic —
RS755824618 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS755825264 XPC Health Risk Pathogenic Xeroderma pigmentosum, group C
RS755825482 TRPC6 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS755825865 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 9, Primary ciliary dyskinesia
RS755825913 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS755826006 ABCA4 Health Risk Pathogenic/Likely pathogenic —
RS755826566 TG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755827237 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS755827664 HPS5 Health Risk Pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 5
RS755827803 TGFBR1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1
RS755828990 FGFR1 Health Risk Conflicting classifications of pathogenicity Craniosynostosis syndrome, Osteoglophonic dysplasia
RS755829473 DNAJC12 Health Risk Pathogenic Hyperphenylalaninemia due to DNAJC12 deficiency, Hyperphenylalaninemia due to DNAJC12 deficiency
RS755830520 CPT2 Health Risk Likely pathogenic Carnitine palmitoyl transferase II deficiency, neonatal form
RS755831030 NUP133 Health Risk Conflicting classifications of pathogenicity —
RS755832014 FLNC Health Risk Likely pathogenic Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS755832695 GNB5 Health Risk Pathogenic/Likely pathogenic Gnb5-related intellectual disability-cardiac arrhythmia syndrome, Gnb5-related intellectual disability-cardiac arrhythmia syndrome
RS755832705 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS755833290 KDM5B Health Risk Likely pathogenic —
RS755834578 ITGB2 Health Risk Likely pathogenic Leukocyte adhesion deficiency 1, Colon adenocarcinoma
RS755835144 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
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