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
RS759453664 PIGN Health Risk Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS759454598 SLC25A15 Health Risk Likely pathogenic —
RS759455097 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal dominant Alport syndrome
RS759455327 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS759455445 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS759455459 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759456303 NOD2 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Blau syndrome
RS759456867 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS759457950 VCAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759458296 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS759458391 TNNT1 Health Risk Pathogenic Nemaline myopathy 5B, autosomal recessive
RS759460647 COL9A1 Health Risk Likely pathogenic COL9A1-related disorder, COL9A1-related disorder
RS759460806 SYNE1 Health Risk Pathogenic/Likely pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS759461234 EDARADD Health Risk Conflicting classifications of pathogenicity Hypohidrotic ectodermal dysplasia, Inborn genetic diseases
RS759461742 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Inborn genetic diseases
RS759462215 ITGA2B Health Risk Conflicting classifications of pathogenicity Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS75946332 ALB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759464073 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS759464364 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS759465116 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS759465865 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS759466766 PPP1R15B Health Risk Conflicting classifications of pathogenicity —
RS759466798 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS759468315 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS759468353 OFD1 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome I, Joubert syndrome
RS759468399 SMAD6 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Inborn genetic diseases
RS759468416 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 15, Usher syndrome
RS759468738 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS759468742 PINK1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS759468937 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS759469907 FLVCR2 Health Risk Pathogenic —
RS759471464 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1
RS759472256 KIF5A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 10, Spastic paraplegia
RS759472787 SDHAF2 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS759473511 CRELD1 Health Risk Conflicting classifications of pathogenicity CRELD1-related disorder, Atrioventricular septal defect
RS759473833 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS759473851 NDUFS6 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Mitochondrial complex I deficiency
RS759474127 TTN Health Risk Conflicting classifications of pathogenicity —
RS759474251 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Inborn genetic diseases
RS759477389 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS759477396 RMND1 Health Risk Pathogenic Combined oxidative phosphorylation defect type 11, Combined oxidative phosphorylation defect type 11
RS759479262 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Inborn genetic diseases
RS75948012 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS759481997 TPM1 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS759483184 GLB1 Health Risk Conflicting classifications of pathogenicity GM1 gangliosidosis, Mucopolysaccharidosis
RS759483250 UNG Health Risk Pathogenic Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5
RS759483921 ASS1 Health Risk Pathogenic/Likely pathogenic Citrullinemia, Citrullinemia type I
RS759484732 ALOX12B Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS759484932 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS759485449 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS759486889 ELANE Health Risk Conflicting classifications of pathogenicity Cyclical neutropenia, Neutropenia
RS759487287 KCNJ11 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS759487846 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Inborn genetic diseases
RS759488854 RAPSN Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1
RS759489151 EXOC7 Health Risk Pathogenic Neurodevelopmental disorder with seizures and brain atrophy, Neurodevelopmental disorder with seizures and brain atrophy
RS75949023 LOXHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Rare genetic deafness
RS759490631 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS759493134 SCARB2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Inborn genetic diseases
RS759493890 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS759494098 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS759494205 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS759494825 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS759496973 TRNT1 Health Risk Conflicting classifications of pathogenicity Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RS759497776 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS759500388 DVL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759500860 CLPB Health Risk Pathogenic 3-methylglutaconic aciduria, type VIIB
RS759501468 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS759501511 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS759501764 DDX41 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS759503727 FRMPD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759505367 B3GLCT Health Risk Pathogenic Peters plus syndrome, Peters plus syndrome
RS759505522 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759505780 RLBP1 Health Risk Pathogenic/Likely pathogenic Newfoundland cone-rod dystrophy, Pigmentary retinal dystrophy
RS759507153 OCLN Health Risk Pathogenic Pseudo-TORCH syndrome 1, Pseudo-TORCH syndrome 1
RS759509150 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS759509443 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Epidermolysis bullosa
RS759510649 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS759510890 LRP5 Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS759511006 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Melanoma
RS759511516 SKIC2 Health Risk Pathogenic/Likely pathogenic Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome
RS759512115 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS759512176 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS759512847 TTR Health Risk Conflicting classifications of pathogenicity Amyloidosis, hereditary systemic 1
RS759513613 ABCA4 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS759513930 PMM2 Health Risk Pathogenic/Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-related disorder
RS759513934 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS759515663 GALC Health Risk Likely pathogenic —
RS759516161 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS759516529 LAMA2 Health Risk Pathogenic —
RS759517614 DRP2 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS759518184 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS759518659 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS759518981 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS759520211 BBS4 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
RS759520465 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS759520580 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis syndrome
RS759520915 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Generalized juvenile polyposis/juvenile polyposis coli
RS759520932 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Dilated cardiomyopathy 1EE
RS759521447 PHF21A Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, Inborn genetic diseases
RS759522148 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
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