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
RS764606007 OTOF Health Risk Pathogenic —
RS764606893 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS764607184 FREM2 Health Risk Pathogenic Fraser syndrome 2, Fraser syndrome 2
RS764607908 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS764608036 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS764608253 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS764608497 CRLS1 Health Risk Pathogenic Combined oxidative phosphorylation deficiency 57, Combined oxidative phosphorylation deficiency 57
RS764608837 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS764608956 OPHN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764608975 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS764609423 GPC3 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Inborn genetic diseases
RS764609499 TCF20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764610550 WDR62 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Microcephaly 2
RS764611160 DLD Health Risk Pathogenic/Likely pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS764612179 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome
RS764612223 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, KIF5A-related disorder
RS764613146 ABCC8 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS764614303 ADNP Health Risk Conflicting classifications of pathogenicity ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, Inborn genetic diseases
RS764614440 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS764616648 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS764617561 NOTCH3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS76461792 OTOG Health Risk Conflicting classifications of pathogenicity Meniere disease, Meniere disease
RS764617954 TCIRG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764618040 PHGDH Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Seizure
RS764620067 EPHB4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS764620077 COX20 Health Risk Conflicting classifications of pathogenicity —
RS764620128 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases
RS764620253 LRP6 Health Risk Conflicting classifications of pathogenicity —
RS764620351 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS764620593 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS764620689 KRT6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764621123 NRXN1 Health Risk Likely pathogenic Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS764621889 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS764622267 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS764622793 TRMU Health Risk Pathogenic/Likely pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Aminoglycoside-induced deafness
RS764623179 HADHB Health Risk Pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency 2 with myopathy and neuropathy
RS764623767 PAX8 Health Risk Conflicting classifications of pathogenicity Hypothyroidism, congenital
RS764625508 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS764625823 GMPPB Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
RS764626266 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS764626319 FASN Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS764626623 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS764629375 NDUFV1 Health Risk Pathogenic —
RS76463072 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS764632543 ZNF408 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Retinal dystrophy
RS764632652 ANK3 Health Risk Conflicting classifications of pathogenicity Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Inborn genetic diseases
RS764633604 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS764636915 TNFRSF1A Health Risk Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS), TNF receptor-associated periodic fever syndrome (TRAPS)
RS764637880 IMPG2 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS764638041 CBS Health Risk Pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS764638887 DDHD2 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia 54
RS764639019 B4GALT7 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome progeroid type, Inborn genetic diseases
RS764639416 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS764640232 CYP11B2 Health Risk Conflicting classifications of pathogenicity Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency
RS764640427 NEXN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20
RS764640893 XRCC2 Health Risk Likely pathogenic Fanconi anemia complementation group U, Hereditary cancer-predisposing syndrome
RS764641619 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS76464258 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Autoinflammatory syndrome
RS764644332 AP3D1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764644357 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, See cases
RS764645296 SET Health Risk Pathogenic Intellectual disability, autosomal dominant 58
RS764647159 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764647345 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS764647588 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia 11
RS764647902 MMP13 Health Risk Pathogenic —
RS764647908 DIABLO Health Risk Conflicting classifications of pathogenicity —
RS764647930 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS764648497 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ovarian cancer
RS764648571 KIF4A Health Risk Conflicting classifications of pathogenicity —
RS764648709 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS764649916 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS764650203 MTHFR Health Risk Conflicting classifications of pathogenicity Global developmental delay, Lower limb spasticity
RS764650219 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS764650519 PEPD Health Risk Pathogenic/Likely pathogenic Prolidase deficiency, Prolidase deficiency
RS764651405 ASXL1 Health Risk Pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS764652187 LTBP2 Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary congenital
RS764653097 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS764653772 DYRK1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DYRK1A-related intellectual disability syndrome
RS764654025 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS764654357 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS764654464 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS764654925 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS764655128 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS764655568 DCT Health Risk Pathogenic Oculocutaneous albinism type 8, Oculocutaneous albinism type 8
RS764657057 STUB1 Health Risk Conflicting classifications of pathogenicity —
RS764657253 PEX12 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger)
RS764658302 FANCG Health Risk Likely pathogenic Fanconi anemia complementation group G, Fanconi anemia complementation group G
RS764658426 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, Autoinflammatory syndrome
RS764658964 WNT10A Health Risk Pathogenic/Likely pathogenic Odonto-onycho-dermal dysplasia, Tooth agenesis
RS764659822 TACR3 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 11 with or without anosmia, Autism spectrum disorder
RS764661082 FGFR3 Health Risk Conflicting classifications of pathogenicity —
RS764662524 PDGFRB Health Risk Conflicting classifications of pathogenicity Infantile myofibromatosis, Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
RS764663152 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS764663555 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS764663599 LRP5 Health Risk Conflicting classifications of pathogenicity —
RS764663923 SRRM2 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS764665426 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS764666741 AGBL2 Health Risk Conflicting classifications of pathogenicity Abnormal brain morphology, Epilepsy
RS764668399 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764668779 RARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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