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
RS751845138 SPAG1 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 28, Primary ciliary dyskinesia
RS751846529 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS75184679 RNASEH2B Health Risk Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 2, Aicardi Goutieres syndrome
RS751846954 DLG3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 90
RS751847293 DIAPH1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS751847978 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS751848086 ABCC8 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS751848182 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS751848355 FDXR Health Risk Likely pathogenic —
RS751849031 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 8
RS751849649 ATP6V0A4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751849953 PNPLA8 Health Risk Pathogenic —
RS751850836 MLC1 Health Risk Conflicting classifications of pathogenicity Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts
RS751852085 NEUROD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751852332 NDUFA13 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 28
RS751855048 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS751856962 PCYT2 Health Risk Likely pathogenic Spastic paraplegia 82, autosomal recessive
RS751858602 VPS33B Health Risk Pathogenic/Likely pathogenic Arthrogryposis, renal dysfunction
RS751859147 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS751859807 PDE6B Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, PDE6B-related disorder
RS751859873 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS751860205 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS751860643 COG5 Health Risk Pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS751861897 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS751861982 PIGT Health Risk Pathogenic PIGT-related disorder, Multiple congenital anomalies-hypotonia-seizures syndrome 3
RS751862142 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS751863851 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental delay
RS751866338 ABCG8 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS751867352 EIF2B4 Health Risk Likely pathogenic —
RS751867550 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS751867551 CLXN Health Risk Likely pathogenic Ciliary dyskinesia, primary
RS751868289 CR2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS751868470 ALPK1 Health Risk Conflicting classifications of pathogenicity —
RS751868529 DDX3X Health Risk Conflicting classifications of pathogenicity —
RS75186889 RNASEH2B Health Risk Pathogenic Aicardi-Goutieres syndrome 2, RNASEH2B-related disorder
RS751869068 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS751870182 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS751870680 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS751870750 SKIC3 Health Risk Pathogenic/Likely pathogenic Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1
RS751871500 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS751871946 MYH8 Health Risk Conflicting classifications of pathogenicity Carney complex - trismus - pseudocamptodactyly syndrome, Carney complex - trismus - pseudocamptodactyly syndrome
RS751872237 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Breast and/or ovarian cancer
RS751872971 STAMBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751873016 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS751873212 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS751873605 ESRP2 Health Risk Likely pathogenic Cleft lip with or without cleft palate, Cleft lip with or without cleft palate
RS751874720 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS751874776 NALCN Health Risk Conflicting classifications of pathogenicity —
RS751875215 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS751875471 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS751875578 PROKR2 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia
RS751876256 RECQL Health Risk Conflicting classifications of pathogenicity —
RS751878651 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, PIEZO1-related disorder
RS751879424 DPY19L2 Health Risk Pathogenic Spermatogenic failure 9, Spermatogenic failure 9
RS751880371 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder
RS751881283 AIPL1 Health Risk Pathogenic Leber congenital amaurosis 4, AIPL1-related disorder
RS751881962 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, Inborn genetic diseases
RS751882106 KAT6A Health Risk Conflicting classifications of pathogenicity Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS751882709 PRNP Health Risk Conflicting classifications of pathogenicity Fatal familial insomnia, Huntington disease-like 1
RS751883130 DLD Health Risk Pathogenic/Likely pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS751883638 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS751885031 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS751885208 CAMK2A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 53
RS751885773 CASQ2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS751886644 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS751888532 ALDH5A1 Health Risk Pathogenic/Likely pathogenic Succinate-semialdehyde dehydrogenase deficiency, ALDH5A1-related disorder
RS751888761 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal dominant
RS751889864 MUSK Health Risk Pathogenic/Likely pathogenic Fetal akinesia deformation sequence 1, Bilateral ptosis
RS751890334 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Inborn genetic diseases
RS751890826 MITF Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Waardenburg syndrome type 2A
RS751890878 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS751891969 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS751892262 ACOX1 Health Risk Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS751893107 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS751894165 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS751894227 GDF9 Health Risk Likely pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS751894635 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS751895494 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS751895513 CEP290 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Joubert syndrome
RS751896015 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS751896733 CACNA1G Health Risk Conflicting classifications of pathogenicity —
RS751898309 GLIS2 Health Risk Conflicting classifications of pathogenicity GLIS2-related disorder, Nephronophthisis
RS751900290 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS751900293 SLC25A46 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary motor and sensory
RS751900799 KIF7 Health Risk Likely pathogenic Acrocallosal syndrome, Multiple epiphyseal dysplasia
RS751900819 UNC80 Health Risk Pathogenic —
RS751900826 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B
RS751901105 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS751901845 MTOR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751902026 GALM Health Risk Pathogenic Galactosemia 4, Galactosemia 4
RS751902051 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS751902505 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS751903254 TMEM231 Health Risk Pathogenic Meckel syndrome, type 11
RS751903373 SCNN1A Health Risk Conflicting classifications of pathogenicity Bronchiectasis with or without elevated sweat chloride 2, Pseudohypoaldosteronism
RS751903628 TRPM4 Health Risk Conflicting classifications of pathogenicity Ventricular tachycardia, Progressive familial heart block type IB
RS751904277 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS751904301 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS751904543 SDHA Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS751906633 SMARCA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751906696 SLC35C1 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency type II, Inborn genetic diseases
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