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
RS769942827 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS769943554 SLC2A1 Health Risk Conflicting classifications of pathogenicity Dystonia 9, Encephalopathy due to GLUT1 deficiency
RS76994389 ARID2 Health Risk Conflicting classifications of pathogenicity —
RS769945146 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4B
RS769947055 NEU1 Health Risk Pathogenic —
RS769947583 MAGEC1 Health Risk Conflicting classifications of pathogenicity —
RS769947722 COL5A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS769948095 POLE Health Risk Pathogenic —
RS769948178 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS769948289 ALPL Health Risk Pathogenic Infantile hypophosphatasia, Adult hypophosphatasia
RS769950368 CYP11A1 Health Risk Likely pathogenic Congenital adrenal insufficiency with 46, XY sex reversal OR 46
RS769950460 KIFBP Health Risk Pathogenic/Likely pathogenic Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome
RS769950582 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Olaparib response
RS769951912 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS769953411 MTHFR Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS769954220 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS769954836 COL7A1 Health Risk Likely pathogenic —
RS769954937 IL7R Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS769955594 ALPL Health Risk Likely pathogenic ALPL-related disorder, Hypophosphatasia
RS769955930 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS769956199 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS769956664 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS769957169 C7 Health Risk Pathogenic —
RS769957689 TMEM67 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS769958855 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS769959260 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS769959338 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS769960206 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS769960273 CD19 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS769960481 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS769961549 CACNA1E Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69
RS769962086 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS769962695 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS769962713 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS769962887 GABBR2 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Inborn genetic diseases
RS769963369 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4
RS769963583 IFNGR2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 28, Inborn genetic diseases
RS769963625 SYNE1 Health Risk Likely pathogenic Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1A
RS769964818 AAAS Health Risk Conflicting classifications of pathogenicity Glucocorticoid deficiency with achalasia, Inborn genetic diseases
RS769964944 DPM1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation type 1E, DPM1-related disorder
RS769964962 IGF1R Health Risk Conflicting classifications of pathogenicity Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS769964986 CCDC78 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases
RS769965398 TECTA Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 21, Autosomal recessive nonsyndromic hearing loss 21
RS769965440 EPHB4 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation 2, Cardiovascular phenotype
RS769965673 CASK Health Risk Pathogenic —
RS769965899 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS769966495 COA8 Health Risk Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 17
RS769967221 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS769967246 GPX4 Health Risk Pathogenic Spondylometaphyseal dysplasia, Sedaghatian type
RS769967565 LAMB3 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS769968442 SAMHD1 Health Risk Conflicting classifications of pathogenicity Chilblain lupus 2, Aicardi-Goutieres syndrome 5
RS769968548 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS769968875 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Transitory neonatal diabetes mellitus
RS769969734 MANBA Health Risk Conflicting classifications of pathogenicity Beta-D-mannosidosis, Beta-D-mannosidosis
RS769970658 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS769971508 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS769971743 SCN9A Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS769972336 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769972347 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS769973987 MFAP5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS769975073 DYNC2LI1 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 15 with polydactyly, Asphyxiating thoracic dystrophy 1
RS769975164 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS769976401 DNAH17 Health Risk Likely pathogenic Male infertility with spermatogenesis disorder, Male infertility with spermatogenesis disorder
RS769976586 ETFA Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2A
RS769977710 LMNA Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS769979770 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS769980220 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS769980324 ALOXE3 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3
RS769980647 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS769981285 HOXD10 Health Risk Conflicting classifications of pathogenicity Congenital vertical talus, Congenital vertical talus
RS769982050 COLQ Health Risk Pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome
RS769982359 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS769982436 BCOR Health Risk Conflicting classifications of pathogenicity BCOR-related disorder, Oculofaciocardiodental syndrome
RS769982482 ABCC8 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, permanent neonatal 3
RS769982899 ADCY10 Health Risk Pathogenic —
RS769983049 FMO3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Trimethylaminuria
RS769983282 GRXCR1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 25, Autosomal recessive nonsyndromic hearing loss 25
RS769983361 LAMC2 Health Risk Likely pathogenic Epidermolysis bullosa, junctional 3A
RS769983873 ABCB11 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS769984570 C7 Health Risk Pathogenic/Likely pathogenic Complement component 7 deficiency, Complement component 7 deficiency
RS769986219 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS769987150 SPTBN2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS769988372 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS769988721 TMEM127 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS769989185 ABCC8 Health Risk Pathogenic/Likely pathogenic Type 2 diabetes mellitus, Maturity-onset diabetes of the young
RS769989306 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A
RS769990941 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769991459 KCTD7 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
RS769992835 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS769994130 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS769994336 UBR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769995080 MN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MN1-related disorder
RS769996056 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS769996976 ARX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS769997937 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS769998552 TF Health Risk Conflicting classifications of pathogenicity Atransferrinemia, Atransferrinemia
RS769998628 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS769999356 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A
RS769999843 RAB33B Health Risk Conflicting classifications of pathogenicity Smith-McCort dysplasia 2, Smith-McCort dysplasia 2
RS770001257 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
« Prev 1 ... 3520 3521 3522 3523 3524 3525 3526 ... 4509 Next »

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

Get Started Free →