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
RS374203426 MYO18B Health Risk Conflicting classifications of pathogenicity MYO18B-related disorder, Inborn genetic diseases
RS374203813 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS374204025 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS374204240 TUBGCP6 Health Risk Conflicting classifications of pathogenicity —
RS374204436 ABCB4 Health Risk Likely pathogenic —
RS374204501 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Inborn genetic diseases
RS374205118 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS374206128 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS374206451 SETD1A Health Risk Conflicting classifications of pathogenicity Epilepsy, early-onset
RS374207670 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS374209343 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS374210667 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS374211312 CHCHD10 Health Risk Conflicting classifications of pathogenicity Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
RS374211586 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS374214185 LIG1 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 96, Sarcoma
RS374215303 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS374215533 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS374216845 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS374217132 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group B
RS374217265 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CODAS syndrome
RS374219808 TGM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374220843 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS374221053 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS374221267 MYH7B Health Risk Conflicting classifications of pathogenicity MYH7B-related disorder, Sarcoma
RS374221404 CEP152 Health Risk Pathogenic —
RS374222050 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS374222196 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS374222301 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Cardiovascular phenotype
RS374223039 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS374223163 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS374223828 COL4A1 Health Risk Conflicting classifications of pathogenicity COL4A1-related disorder, COL4A1-related disorder
RS374224226 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS374224714 POLG Health Risk Conflicting classifications of pathogenicity —
RS374224955 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Age related macular degeneration 2
RS374225489 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS374227554 PIGO Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS374227836 RASGRP1 Health Risk Pathogenic —
RS374228427 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS374228630 IGF1 Health Risk Conflicting classifications of pathogenicity Growth delay due to insulin-like growth factor type 1 deficiency, IGF1-related disorder
RS374228930 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS374229587 TCF3 Health Risk Conflicting classifications of pathogenicity Agammaglobulinemia 8, autosomal dominant
RS374230313 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS374232191 TOR1AIP1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y
RS374232523 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS374232562 TREX1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
RS374232950 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS374233100 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS374235131 MAGT1 Health Risk Conflicting classifications of pathogenicity X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
RS374237444 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, PRKDC-related disorder
RS374240342 PRPH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374241516 SLC17A5 Health Risk Conflicting classifications of pathogenicity Salla disease, Sialic acid storage disease
RS374242625 CELSR1 Health Risk Conflicting classifications of pathogenicity —
RS374243353 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS374243549 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS374244026 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS374244303 ABCC6 Health Risk Likely pathogenic —
RS374244985 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS374247020 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases
RS374247138 AMHR2 Health Risk Pathogenic/Likely pathogenic AMHR2-related disorder, Persistent Mullerian duct syndrome
RS374248199 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS374248298 HADH Health Risk Uncertain significance/Uncertain risk allele Monogenic diabetes, Hyperinsulinemic hypoglycemia
RS374248747 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS374249242 HERC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Macrocephaly
RS374249526 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS374250366 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS374251317 BMP1 Health Risk Conflicting classifications of pathogenicity —
RS374252944 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS374253258 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS374253690 CELSR3 Health Risk Conflicting classifications of pathogenicity —
RS374254535 MARS2 Health Risk Conflicting classifications of pathogenicity —
RS374254751 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy
RS374255033 AIPL1 Health Risk Pathogenic Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS374255381 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS374257100 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS374257343 CEP78 Health Risk Conflicting classifications of pathogenicity —
RS374258390 FRAS1 Health Risk Conflicting classifications of pathogenicity FRAS1-related disorder, FRAS1-related disorder
RS374258471 CNGA3 Health Risk Likely pathogenic Achromatopsia 2, Retinal dystrophy
RS374259530 ADSL Health Risk Pathogenic Adenylosuccinate lyase deficiency, Severe global developmental delay
RS374260443 USH1G Health Risk Conflicting classifications of pathogenicity —
RS374262024 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS374262463 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS374262499 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS374262706 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS374262841 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PIEZO1-related disorder
RS374263658 PLK4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374263671 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS374263890 DSP Health Risk Conflicting classifications of pathogenicity Ventricular fibrillation, Arrhythmogenic right ventricular dysplasia 8
RS374264233 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, Osteopetrosis
RS374264520 SCNN1B Health Risk Conflicting classifications of pathogenicity Bronchiectasis with or without elevated sweat chloride 1, Liddle syndrome 1
RS374265585 INPPL1 Health Risk Conflicting classifications of pathogenicity —
RS374266534 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS374267444 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS374267988 TBCD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374268790 IL1RN Health Risk Conflicting classifications of pathogenicity Sterile multifocal osteomyelitis with periostitis and pustulosis, Inborn genetic diseases
RS374268850 SPATA7 Health Risk Pathogenic Leber congenital amaurosis 3, Retinitis pigmentosa
RS374269726 STXBP1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 4
RS374270497 ENPP1 Health Risk Pathogenic Arterial calcification, generalized
RS374270799 CYP4V2 Health Risk Conflicting classifications of pathogenicity CYP4V2-related disorder, CYP4V2-related disorder
RS374271754 CLN6 Health Risk Pathogenic —
RS374272301 OTOGL Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 84B, Autosomal recessive nonsyndromic hearing loss 84B
« Prev 1 ... 2725 2726 2727 2728 2729 2730 2731 ... 4509 Next »

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

Get Started Free →