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
RS766411096 CRB1 Health Risk Pathogenic Retinal dystrophy, Leber congenital amaurosis 8
RS766411601 TTC7A Health Risk Pathogenic Multiple gastrointestinal atresias, Multiple gastrointestinal atresias
RS766411890 DUOX2 Health Risk Conflicting classifications of pathogenicity —
RS766413225 SOS2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Noonan syndrome 9
RS766413410 AGK Health Risk Pathogenic/Likely pathogenic Cataract 38, Sengers syndrome
RS766414287 KDM6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KDM6B-related disorder
RS766414903 JMJD1C Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Early myoclonic encephalopathy
RS766415575 SKIC3 Health Risk Likely pathogenic —
RS766415751 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS766416007 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS766416224 ANO6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766416564 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS766416620 CUL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766417784 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS766418091 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS766418804 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS766419491 PNKP Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 12
RS766419568 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS766420051 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS766420467 LOXL3 Health Risk Pathogenic —
RS766420673 GNE Health Risk Pathogenic/Likely pathogenic GNE myopathy, Sialuria
RS766420907 MUTYH Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS766421052 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS766421214 NALCN Health Risk Pathogenic Hypotonia, infantile
RS766421283 TBXAS1 Health Risk Pathogenic —
RS766422429 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS766422988 AMT Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS766423432 PROS1 Health Risk Pathogenic/Likely pathogenic Thrombophilia due to protein S deficiency, autosomal recessive
RS766424461 PKD1 Health Risk Conflicting classifications of pathogenicity PKD1-related disorder, Polycystic kidney disease
RS766425037 CYP1B1 Health Risk Pathogenic/Likely pathogenic Congenital glaucoma, Anterior segment dysgenesis 6
RS76642637 TREX1 Health Risk Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 1, Chilblain lupus 1
RS766427132 DMD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
RS766427173 PHGDH Health Risk Pathogenic/Likely pathogenic Neu-Laxova syndrome 1, PHGDH deficiency
RS766427609 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS766429217 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, PIEZO1-related disorder
RS766430458 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS766431294 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Cardiovascular phenotype
RS766431403 ABCC8 Health Risk Pathogenic/Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS766432619 EIF2AK3 Health Risk Likely pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS766433101 ASXL1 Health Risk Pathogenic/Likely pathogenic Cafe-au-lait spot, Juvenile myelomonocytic leukemia
RS766433250 HTRA1 Health Risk Pathogenic/Likely pathogenic Vascular dementia, HTRA1-related cerebral small vessel disease
RS766433603 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy
RS766435425 SDCCAG8 Health Risk Pathogenic Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS76643734 UTP20 Health Risk Conflicting classifications of pathogenicity —
RS766438395 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS766438770 CREB3L1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Osteogenesis imperfecta type 16
RS766438805 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS766439271 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS766439784 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Hyperplastic polyposis syndrome
RS766440021 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS766440228 CYP24A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hypercalcemia
RS766440476 PRKAR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Carney complex
RS766440492 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, 6 conditions
RS766441395 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy
RS766442736 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS766443353 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS766443371 RPGRIP1 Health Risk Pathogenic Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS766443785 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Usher syndrome type 2A
RS766444609 LTBP2 Health Risk Pathogenic —
RS766444850 EFHC1 Health Risk Conflicting classifications of pathogenicity Absence seizure, Myoclonic epilepsy
RS766445416 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS766445638 SHMT2 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with cardiomyopathy, spasticity
RS766446110 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS766446275 TTN Health Risk Conflicting classifications of pathogenicity —
RS766446900 HPS3 Health Risk Pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS766448695 G6PC1 Health Risk Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS766450555 GFPT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital myasthenic syndrome 12
RS766450773 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS766451124 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS766451267 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS766451294 FGFR1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia, Craniosynostosis syndrome
RS766451588 PUS1 Health Risk Conflicting classifications of pathogenicity Myopathy, lactic acidosis
RS766452597 PIGV Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 1, Inborn genetic diseases
RS766453711 CBS Health Risk Pathogenic Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS766454175 SCO1 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 4
RS76645461 G6PD Health Risk Pathogenic/Likely pathogenic G6PD AURES, Anemia
RS766454749 CHUK Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766454930 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS766455566 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS766456579 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766457071 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS766457850 AIMP1 Health Risk Pathogenic Hypomyelinating leukodystrophy 3, Hypomyelinating leukodystrophy 3
RS766457949 COG1 Health Risk Conflicting classifications of pathogenicity COG1 congenital disorder of glycosylation, Inborn genetic diseases
RS766458324 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS766458792 MPI Health Risk Conflicting classifications of pathogenicity MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS766460176 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS766461175 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS766461654 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS766463226 SCN4A Health Risk Conflicting classifications of pathogenicity Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg
RS766463432 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766464017 ADGRV1 Health Risk Pathogenic Inborn genetic diseases, Retinal dystrophy
RS766465153 CILK1 Health Risk Conflicting classifications of pathogenicity —
RS766465200 OTOG Health Risk Pathogenic —
RS766465847 CFAP61 Health Risk Pathogenic Spermatogenic failure 84, Spermatogenic failure 84
RS766465907 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS766467431 NEB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nemaline myopathy 2
RS766470088 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS766470524 HAND2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766470739 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS766470795 CRB2 Health Risk Conflicting classifications of pathogenicity —
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