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
RS148352371 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, ARSA-related disorder
RS1483527885 BRIP1 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS148353187 TRAPPC9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148354076 LIFR Health Risk Conflicting classifications of pathogenicity Stuve-Wiedemann syndrome, Connective tissue disorder
RS148354227 STX11 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4
RS148354898 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS148355179 KCNJ5 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1483554951 ASPA Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS148355969 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS148356050 ESRRB Health Risk Conflicting classifications of pathogenicity —
RS148356427 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Acute myeloid leukemia
RS148356887 CDHR1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 15, Retinal dystrophy
RS148357203 ALPL Health Risk Conflicting classifications of pathogenicity Adult hypophosphatasia, Adult hypophosphatasia
RS148357205 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS148357861 CSF1R Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148358078 GPR143 Health Risk Pathogenic —
RS148358896 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1483590394 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS1483600034 PNPO Health Risk Pathogenic/Likely pathogenic Pyridoxal phosphate-responsive seizures, Seizure
RS1483605155 RET Health Risk Pathogenic Multiple endocrine neoplasia, type 2
RS1483606765 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS148361794 KIF1C Health Risk Conflicting classifications of pathogenicity Spastic ataxia 2, Hereditary spastic paraplegia
RS148362066 LSR Health Risk Conflicting classifications of pathogenicity —
RS148362133 COL9A2 Health Risk Conflicting classifications of pathogenicity COL9A2-related disorder, COL9A2-related disorder
RS148362276 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, HSPG2-related disorder
RS148362467 MTTP Health Risk Conflicting classifications of pathogenicity Abetalipoproteinaemia, Abetalipoproteinaemia
RS148362959 SERPINA1 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, SERPINA1-related disorder
RS148362963 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Ehlers-Danlos syndrome
RS1483632178 MTHFR Health Risk Pathogenic/Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS148363748 AARS2 Health Risk Conflicting classifications of pathogenicity AARS2-related disorder, AARS2-related disorder
RS148364156 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS148364272 FLNB Health Risk Conflicting classifications of pathogenicity —
RS148364865 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21
RS148365271 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS1483660993 AGR2 Health Risk Pathogenic Respiratory infections, recurrent
RS1483668823 ATP13A2 Health Risk Pathogenic Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS148367422 TCOF1 Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS148368084 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Hyper-IgE recurrent infection syndrome 3
RS1483687600 FUCA1 Health Risk Conflicting classifications of pathogenicity Fucosidosis, Fucosidosis
RS148369068 FOXP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148369119 MCCC2 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 2 deficiency, Uterine carcinosarcoma
RS1483691434 NR5A1 Health Risk Likely pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS148369169 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS148370256 QRICH2 Health Risk Conflicting classifications of pathogenicity QRICH2-related disorder, QRICH2-related disorder
RS148370501 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS148370803 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Congenital myasthenic syndrome 4A
RS148371004 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Inborn genetic diseases
RS148372053 SLC25A19 Health Risk Conflicting classifications of pathogenicity Amish lethal microcephaly, SLC25A19-related disorder
RS148372700 IL6ST Health Risk Conflicting classifications of pathogenicity —
RS148372886 FASN Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS148373907 JAG1 Health Risk Conflicting classifications of pathogenicity Isolated Nonsyndromic Congenital Heart Disease, Alagille syndrome due to a JAG1 point mutation
RS148373909 DNASE1 Health Risk Conflicting classifications of pathogenicity Systemic lupus erythematosus, Systemic lupus erythematosus
RS148374246 DNAJC21 Health Risk Conflicting classifications of pathogenicity Bone marrow failure syndrome 3, Inborn genetic diseases
RS148374859 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS148375080 PRODH Health Risk Conflicting classifications of pathogenicity Proline dehydrogenase deficiency, Proline dehydrogenase deficiency
RS148375192 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS148376296 USH1C Health Risk Conflicting classifications of pathogenicity —
RS148376909 NHLRC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Fibrosis
RS148378112 PYGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type VI
RS1483781400 FKRP Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS148378319 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Familial dysautonomia
RS1483785677 LCT Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS148378635 TMEM38B Health Risk Conflicting classifications of pathogenicity TMEM38B-related disorder, TMEM38B-related disorder
RS1483820975 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS148382142 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148382606 MC3R Health Risk Conflicting classifications of pathogenicity MC3R-related disorder, MC3R-related disorder
RS148382941 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS148383122 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS148383343 ZFHX3 Health Risk Conflicting classifications of pathogenicity ZFHX3-related disorder, Cholangiocarcinoma
RS1483834388 ABCC8 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Transitory neonatal diabetes mellitus
RS148383499 CD46 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, CD46-related disorder
RS148384161 GJA1 Health Risk Conflicting classifications of pathogenicity Hypoplastic left heart syndrome 1, Syndactyly type 3
RS148385032 POLR1C Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 3, Hypomyelinating leukodystrophy 11
RS148385798 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, LRBA-related disorder
RS1483859285 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS148386297 PKD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Inborn genetic diseases
RS148386572 SLC26A1 Health Risk Conflicting classifications of pathogenicity Nephrolithiasis, calcium oxalate
RS1483869380 SON Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ZTTK syndrome
RS148387362 GHR Health Risk Conflicting classifications of pathogenicity Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect
RS148387367 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 13
RS148387660 ABCA4 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy, Retinal dystrophy
RS148388245 FN1 Health Risk Conflicting classifications of pathogenicity Chronic kidney disease, Chronic kidney disease
RS1483890972 AMT Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS148389773 UNC45B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148390122 TGIF1 Health Risk Conflicting classifications of pathogenicity TGIF1-related disorder, Holoprosencephaly 4
RS148390300 IL1RAPL2 Health Risk Conflicting classifications of pathogenicity —
RS1483909684 AGA Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS148391179 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS1483922249 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS148393161 ERCC8 Health Risk Pathogenic/Likely pathogenic Cockayne syndrome type 1, Cockayne syndrome
RS1483931960 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS148393324 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Inborn genetic diseases
RS148393417 CELSR2 Health Risk Conflicting classifications of pathogenicity —
RS148393425 ABCC2 Health Risk Conflicting classifications of pathogenicity ABCC2-related disorder, ABCC2-related disorder
RS148393631 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 2, isolated
RS1483938000 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS148394770 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS148395034 TRIM63 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Inborn genetic diseases
RS148395967 LAMB3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS1483960506 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
« Prev 1 ... 698 699 700 701 702 703 704 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →