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
RS373979607 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS373979810 TXNRD2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Primary dilated cardiomyopathy
RS373980582 DLL3 Health Risk Conflicting classifications of pathogenicity Syndactyly, Spondylocostal dysostosis 1
RS373982157 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS373982540 SACS Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Spastic paraplegia
RS373983482 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373983977 PROS1 Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein S deficiency, autosomal dominant
RS373985781 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS373986368 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SETBP1-related disorder
RS373987090 RTTN Health Risk Likely pathogenic Microcephalic primordial dwarfism due to RTTN deficiency, Microcephalic primordial dwarfism due to RTTN deficiency
RS373987254 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, GLDC-related disorder
RS373991357 WNT10A Health Risk Conflicting classifications of pathogenicity Tooth agenesis, selective
RS373992160 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS373992649 TMEM70 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
RS373993156 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Weill-Marchesani syndrome
RS373993732 AIRE Health Risk Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
RS373994051 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS373995498 ZFP36L2 Health Risk Pathogenic Oocyte maturation defect 13, Oocyte maturation defect 13
RS373995960 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS373996629 COL9A3 Health Risk Conflicting classifications of pathogenicity —
RS373997222 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS373998843 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS373998956 CTNS Health Risk Conflicting classifications of pathogenicity Ocular cystinosis, Nephropathic cystinosis
RS374001771 DNAH1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 18, Ciliary dyskinesia
RS374001837 OBSL1 Health Risk Conflicting classifications of pathogenicity —
RS374002111 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS374003257 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS374003662 RTN2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS374003717 NPHP4 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 4, Nephronophthisis
RS374003770 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS374003966 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS374004608 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS374004875 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, SLX4-related disorder
RS374005016 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Wiedemann-Steiner syndrome
RS374006397 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS374006597 DLG3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 90
RS374006808 TFG Health Risk Conflicting classifications of pathogenicity Hereditary motor and sensory neuropathy, Okinawa type
RS374007277 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS374007383 FLNB Health Risk Conflicting classifications of pathogenicity —
RS374007477 COG5 Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS374007793 GCH1 Health Risk Conflicting classifications of pathogenicity GTP cyclohydrolase I deficiency, Dystonia 5
RS374008042 UPK3A Health Risk Conflicting classifications of pathogenicity Renal hypodysplasia/aplasia 1, UPK3A-related disorder
RS374010060 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, PEX1-related disorder
RS374010531 CTSD Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10
RS374010824 FGF14 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374011338 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS374011978 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS374012512 SPINK5 Health Risk Likely pathogenic Ichthyosis linearis circumflexa, Ovarian serous cystadenocarcinoma
RS374012753 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS3740128 CHST3 Health Risk Conflicting classifications of pathogenicity Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS374013084 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS374013818 OBSCN Health Risk Conflicting classifications of pathogenicity —
RS374014162 NF1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS374014228 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia
RS374014611 RSPH3 Health Risk Pathogenic Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32
RS374014662 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiomyopathy
RS374015407 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS374016408 LAMB3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374016704 GDF1 Health Risk Pathogenic/Likely pathogenic Congenital heart defects, multiple types
RS374017520 TMC8 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, Inborn genetic diseases
RS374017889 PROM1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 41, Cone-rod dystrophy 12
RS374018271 PIEZO1 Health Risk Conflicting classifications of pathogenicity Lymphatic malformation 6, Lymphatic malformation 6
RS374019555 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS374019782 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS374020067 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS374021326 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS374021722 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS374022098 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS374022393 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS374022749 DLL4 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 6, Inborn genetic diseases
RS374024105 ITGA3 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa, junctional 7
RS374024543 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS374024951 SGPL1 Health Risk Pathogenic Nephrotic syndrome 14, Nephrotic syndrome 14
RS374025483 BMPR2 Health Risk Conflicting classifications of pathogenicity Primary pulmonary hypertension, Inborn genetic diseases
RS374026247 SBF1 Health Risk Conflicting classifications of pathogenicity —
RS374027175 SETD1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374027926 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases
RS3740296 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS374030577 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, FANCA-related disorder
RS374031658 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS374032491 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1G
RS374032892 TRIP4 Health Risk Likely pathogenic TRIP4-related disorder, Gastric cancer
RS374033085 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS374033335 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS374034519 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ADGRV1-related disorder
RS374036874 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS374037026 BMP4 Health Risk Conflicting classifications of pathogenicity Orofacial cleft 11, Microphthalmia with brain and digit anomalies
RS374037958 EIF2B2 Health Risk Likely pathogenic Vanishing white matter disease, Vanishing white matter disease
RS374038746 AMHR2 Health Risk Conflicting classifications of pathogenicity —
RS374039266 SCN4A Health Risk Conflicting classifications of pathogenicity Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis
RS374040275 SUN1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
RS374040448 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS374040562 LMBRD1 Health Risk Likely pathogenic LMBRD1-related disorder, Methylmalonic aciduria and homocystinuria type cblF
RS374040699 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS374041375 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS374041678 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS374042455 POMGNT2 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS374043005 EPM2A Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Seizure
RS374043017 SGCD Health Risk Conflicting classifications of pathogenicity Qualitative or quantitative defects of delta-sarcoglycan, Qualitative or quantitative defects of delta-sarcoglycan
RS374043253 TYMP Health Risk Pathogenic —
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