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
RS730880260 NECTIN4 Health Risk Pathogenic Ectodermal dysplasia-syndactyly syndrome 1, Ectodermal dysplasia-syndactyly syndrome 1
RS730880261 CUL7 Health Risk Pathogenic 3M syndrome 1, CUL7-related disorder
RS730880262 CUL7 Health Risk Pathogenic 3M syndrome 1, 3M syndrome 1
RS730880263 CUL7 Health Risk Pathogenic 3M syndrome 1, 3M syndrome 1
RS730880264 ALDH3A2 Health Risk Pathogenic Sjögren-Larsson syndrome, Cerebral palsy
RS730880265 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS730880266 NAGS Health Risk Pathogenic Hyperammonemia, type III
RS730880267 NAGS Health Risk Pathogenic Hyperammonemia, type III
RS730880268 USH1G Health Risk Pathogenic Usher syndrome type 1G, Usher syndrome type 1G
RS730880269 SECISBP2 Health Risk Pathogenic Thyroid hormone metabolism, abnormal 1
RS730880270 SLC45A2 Health Risk Pathogenic Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
RS730880271 SLC45A2 Health Risk Pathogenic Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
RS730880272 FBXO7 Health Risk Pathogenic Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS730880273 MERTK Health Risk Pathogenic Retinitis pigmentosa 38, Retinal dystrophy
RS730880274 TBX19 Health Risk Pathogenic Congenital isolated adrenocorticotropic hormone deficiency, TBX19-related disorder
RS730880275 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS730880276 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS730880277 FANCF Health Risk Pathogenic Fanconi anemia complementation group F, Fanconi anemia
RS730880278 FANCF Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group F, Fanconi anemia
RS730880279 DDX11 Health Risk Pathogenic Warsaw breakage syndrome, Warsaw breakage syndrome
RS730880280 DDX11 Health Risk Pathogenic Warsaw breakage syndrome, Warsaw breakage syndrome
RS730880281 GHR Health Risk Pathogenic Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect
RS730880282 GHR Health Risk Pathogenic Laron syndrome with elevated serum GH-binding protein, Laron syndrome with elevated serum GH-binding protein
RS730880284 SELP Health Risk Likely pathogenic Premature coronary artery atherosclerosis, Premature coronary artery atherosclerosis
RS730880285 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS730880286 COL7A1 Health Risk Likely pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS730880287 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS730880288 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS730880289 DES Health Risk Pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS730880290 WWOX Health Risk Pathogenic Developmental and epileptic encephalopathy, 28
RS730880291 WWOX Health Risk Pathogenic Developmental and epileptic encephalopathy, 28
RS730880292 WWOX Health Risk Pathogenic Developmental and epileptic encephalopathy, 28
RS730880293 LONP1 Health Risk Pathogenic CODAS syndrome, CODAS syndrome
RS730880294 TSEN2 Health Risk Pathogenic Pontocerebellar hypoplasia type 2B, Pontocerebellar hypoplasia type 2B
RS730880295 LACC1 Health Risk Conflicting classifications of pathogenicity Juvenile arthritis due to defect in LACC1, Juvenile arthritis due to defect in LACC1
RS730880296 CD3D Health Risk Pathogenic/Likely pathogenic Immunodeficiency 19, CD3D-related disorder
RS730880297 ITGB6 Health Risk Pathogenic Amelogenesis imperfecta type 1H, Amelogenesis imperfecta type 1H
RS730880298 ITGB6 Health Risk Likely pathogenic Amelogenesis imperfecta type 1H, Amelogenesis imperfecta type 1H
RS730880299 DCDC2 Health Risk Pathogenic Nephronophthisis 19, Isolated neonatal sclerosing cholangitis
RS730880300 CRB2 Health Risk Conflicting classifications of pathogenicity Ventriculomegaly-cystic kidney disease, Ventriculomegaly-cystic kidney disease
RS730880301 CUL7 Health Risk Pathogenic Yakut short stature syndrome, Yakut short stature syndrome
RS730880302 PINK1 Health Risk Pathogenic Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS730880303 NAGS Health Risk Likely pathogenic Hyperammonemia, type III
RS730880304 ALG2 Health Risk Pathogenic ALG2-congenital disorder of glycosylation, ALG2-congenital disorder of glycosylation
RS730880305 HSD17B3 Health Risk Pathogenic Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
RS730880306 LPIN1 Health Risk Pathogenic Myoglobinuria, acute recurrent
RS730880307 PRKRA Health Risk Pathogenic Dystonia 16, Dystonia 16
RS730880308 GHR Health Risk Pathogenic Short stature due to partial GHR deficiency, Short stature due to partial GHR deficiency
RS730880309 AUH Health Risk Pathogenic 3-methylglutaconic aciduria type 1, 3-methylglutaconic aciduria type 1
RS730880310 AUH Health Risk Pathogenic 3-methylglutaconic aciduria type 1, 3-methylglutaconic aciduria type 1
RS730880311 AUH Health Risk Pathogenic 3-methylglutaconic aciduria type 1, 3-methylglutaconic aciduria type 1
RS730880312 AUH Health Risk Pathogenic/Likely pathogenic 3-methylglutaconic aciduria type 1, AUH-related disorder
RS730880313 RUNX2 Health Risk Pathogenic Cleidocranial dysostosis, Cleidocranial dysostosis
RS730880314 RUNX2 Health Risk Pathogenic Cleidocranial dysostosis, Cleidocranial dysostosis
RS730880315 RUNX2 Health Risk Pathogenic Cleidocranial dysostosis, Cleidocranial dysostosis
RS730880316 RPIA Health Risk Pathogenic Deficiency of ribose-5-phosphate isomerase, Deficiency of ribose-5-phosphate isomerase
RS730880317 PDE6B Health Risk Pathogenic Retinitis pigmentosa 40, Retinal dystrophy
RS730880318 ZAP70 Health Risk Pathogenic Combined immunodeficiency due to ZAP70 deficiency, ZAP70-related disorder
RS730880319 ZAP70 Health Risk Pathogenic Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency
RS730880320 CXCR4 Health Risk Pathogenic/Likely pathogenic Warts, hypogammaglobulinemia
RS730880321 MGP Health Risk Pathogenic Keutel syndrome, Keutel syndrome
RS730880322 MGP Health Risk Pathogenic Keutel syndrome, Keutel syndrome
RS730880323 MKS1 Health Risk Pathogenic Meckel syndrome, type 1
RS730880324 BRAT1 Health Risk Pathogenic/Likely pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases
RS730880325 GUCY2C Health Risk Pathogenic Meconium ileus, Meconium ileus
RS730880326 TCF12 Health Risk Pathogenic TCF12-related craniosynostosis, TCF12-related craniosynostosis
RS730880328 PTPN11 Health Risk Conflicting classifications of pathogenicity Metachondromatosis, Noonan syndrome 1
RS730880329 RBCK1 Health Risk Pathogenic Polyglucosan body myopathy 1 without immunodeficiency, Polyglucosan body myopathy type 1
RS730880330 RBCK1 Health Risk Pathogenic/Likely pathogenic Polyglucosan body myopathy type 1, Polyglucosan body myopathy 1 without immunodeficiency
RS730880331 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS730880335 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Cardiomyopathy
RS730880336 MYBPC3 Health Risk Pathogenic Cardiomyopathy, Hypertrophic cardiomyopathy
RS730880337 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS730880338 GJB2 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Rare genetic deafness
RS730880341 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
RS730880343 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS730880344 LAMP2 Health Risk Likely pathogenic Danon disease, Hypertrophic cardiomyopathy
RS730880345 LDB3 Health Risk Pathogenic Myofibrillar myopathy 4, Cardiovascular phenotype
RS730880347 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype
RS730880349 USH2A Health Risk Pathogenic Rare genetic deafness, Usher syndrome type 2A
RS730880351 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS730880352 EMD Health Risk Pathogenic Neuromuscular disease, X-linked Emery-Dreifuss muscular dystrophy
RS730880355 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS730880356 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS730880357 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS730880359 TMC1 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS730880361 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS730880362 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Cardiomyopathy
RS730880365 TTN Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Cardiomyopathy
RS730880366 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS730880367 MYO7A Health Risk Pathogenic Rare genetic deafness, Usher syndrome type 1
RS730880368 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Inborn genetic diseases
RS730880369 ADGRV1 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS730880370 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Atrial fibrillation
RS730880371 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS730880372 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS730880374 KCNH2 Health Risk Likely pathogenic Long QT syndrome 2, Long QT syndrome 2
RS730880377 CRB2 Health Risk Pathogenic Ventriculomegaly-cystic kidney disease, Ventriculomegaly-cystic kidney disease
RS730880388 ACTC1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
RS730880401 ACTC1 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
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