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
RS755007390 ADA2 Health Risk Pathogenic Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2
RS755007541 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS755007607 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS755007671 SFRP4 Health Risk Pathogenic Pyle metaphyseal dysplasia, Pyle metaphyseal dysplasia
RS755007999 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS755008774 PMM2 Health Risk Pathogenic/Likely pathogenic PMM2-congenital disorder of glycosylation, Inborn genetic diseases
RS755009242 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS755009745 NGLY1 Health Risk Pathogenic/Likely pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS755011754 MFSD8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Late-infantile neuronal ceroid lipofuscinosis
RS755012183 ABCB4 Health Risk Pathogenic —
RS755012426 IL17RC Health Risk Likely pathogenic Candidiasis, familial
RS755012990 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS755013078 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS755013341 KCNQ2 Health Risk Conflicting classifications of pathogenicity Complex neurodevelopmental disorder, Early-infantile DEE
RS755013836 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Gorlin syndrome
RS755014001 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS755014798 ACADSB Health Risk Pathogenic/Likely pathogenic Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase
RS755017 ZBTB46 Health Risk association Chronic osteomyelitis, Chronic osteomyelitis
RS755017868 DHFR;MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS755018069 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS755021350 ATR Health Risk Pathogenic —
RS755021367 NXF5 Health Risk Conflicting classifications of pathogenicity —
RS755022193 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS755022770 TTN Health Risk Conflicting classifications of pathogenicity —
RS755023434 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS755024172 DNAJC19 Health Risk Likely pathogenic 3-methylglutaconic aciduria type 5, 3-methylglutaconic aciduria type 5
RS755024692 ACO2 Health Risk Conflicting classifications of pathogenicity Optic atrophy 9, Optic atrophy 9
RS755025293 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS755026998 TRIO Health Risk Conflicting classifications of pathogenicity —
RS755028000 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS755028719 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS755029414 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS755029735 BRPF1 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS755031010 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS755031341 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS755032078 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 39
RS755033580 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS755035387 LTBP4 Health Risk Conflicting classifications of pathogenicity Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
RS755035506 MBD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755036276 CNGB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 45, Retinitis pigmentosa 45
RS755036513 FOXA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755038966 CC2D1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 3
RS755039988 P3H2 Health Risk Pathogenic —
RS755040627 SLC6A5 Health Risk Pathogenic Hyperekplexia 3, Hyperekplexia 3
RS755040883 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755041461 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS755042147 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Inborn genetic diseases
RS755043110 TANC2 Health Risk Pathogenic —
RS755043772 KMT2C Health Risk Likely pathogenic —
RS755043901 COL2A1 Health Risk Conflicting classifications of pathogenicity COL2A1-related disorder, COL2A1-related disorder
RS755044609 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS755046298 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS755046558 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS755047447 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Deafness
RS755047520 ZBTB18 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755047928 SDHD Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS755049614 SLC26A2 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IB
RS755050703 MCM3AP Health Risk Likely pathogenic Peripheral neuropathy, autosomal recessive
RS755053175 AQP2 Health Risk Likely pathogenic —
RS755053984 ASXL1 Health Risk Pathogenic —
RS755054282 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS755054839 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS755055358 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Tuberous sclerosis syndrome
RS755056713 CACNB2 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 4, Brugada syndrome 4
RS755058199 COL1A2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant COL1A2-related disorders, Ehlers-Danlos syndrome
RS755058452 COQ8A Health Risk Pathogenic —
RS755058688 DPH2 Health Risk Conflicting classifications of pathogenicity Short stature, Global developmental delay
RS755058802 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS755059628 RAG1 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive
RS755060067 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Inborn genetic diseases
RS755060365 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS755060592 DNAI2 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 9
RS755061434 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS755064227 PROM1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 12, Retinal macular dystrophy type 2
RS755064267 HADHB Health Risk Pathogenic HADHB-related disorder, Mitochondrial trifunctional protein deficiency
RS755065532 PNPT1 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 13, Ovarian serous cystadenocarcinoma
RS755065651 MFN2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS755065800 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, King Denborough syndrome
RS755066542 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS755066600 ARID1A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS755067397 DSP Health Risk Conflicting classifications of pathogenicity Lethal acantholytic epidermolysis bullosa, Woolly hair-skin fragility syndrome
RS755067851 SCN9A Health Risk Pathogenic/Likely pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS755067873 ARHGEF10 Health Risk Conflicting classifications of pathogenicity —
RS755068491 LGI1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant epilepsy with auditory features, Inborn genetic diseases
RS755068898 C5 Health Risk Pathogenic —
RS755068980 FASTKD2 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS755069015 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS755069436 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS755069593 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS755071263 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS755073303 CASR Health Risk Likely pathogenic Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS755073786 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS755074605 PTPRO Health Risk Conflicting classifications of pathogenicity PTPRO-related disorder, Nephrotic syndrome
RS755075934 BRAT1 Health Risk Pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS755076586 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular cardiomyopathy
RS755077681 MMUT Health Risk Likely pathogenic Methylmalonic acidemia, Methylmalonic acidemia
RS755078197 UBE3A Health Risk Pathogenic —
RS755079949 ARHGAP31 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755081153 AFF4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755081246 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
« Prev 1 ... 3277 3278 3279 3280 3281 3282 3283 ... 4509 Next »

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

Get Started Free →