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
RS387907260 KCTD7 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 3, Neuronal ceroid lipofuscinosis
RS387907261 KCTD7 Health Risk Pathogenic Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
RS387907262 KCTD7 Health Risk Pathogenic Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
RS387907263 KCTD7 Health Risk Pathogenic Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
RS387907264 PFN1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 18, Amyotrophic lateral sclerosis type 18
RS387907265 PFN1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 18, PFN1-related disorder
RS387907266 PFN1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 18, Amyotrophic lateral sclerosis type 18
RS387907267 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy 4, Cardiovascular phenotype
RS387907268 PRCD Health Risk Pathogenic Retinitis pigmentosa 36, Retinitis pigmentosa
RS387907269 AMER1 Health Risk Pathogenic Osteopathia striata with cranial sclerosis, Osteopathia striata with cranial sclerosis
RS387907270 RBPJ Health Risk Pathogenic Adams-Oliver syndrome 3, Adams-Oliver syndrome 3
RS387907271 RBPJ Health Risk Pathogenic Adams-Oliver syndrome 3, Adams-Oliver syndrome 3
RS387907273 TCTN3 Health Risk Pathogenic/Likely pathogenic Orofacial-digital syndrome IV, Joubert syndrome 18
RS387907274 FUS Health Risk Pathogenic Tremor, hereditary essential
RS387907275 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS387907276 SLC3A1 Health Risk Pathogenic Cystinuria, Cystinuria
RS387907278 TGFB2 Health Risk Pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS387907279 FAN1 Health Risk Pathogenic Karyomegalic interstitial nephritis, FAN1-related disorder
RS387907280 FAN1 Health Risk Pathogenic Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis
RS387907281 ATP1A3 Health Risk Pathogenic Alternating hemiplegia of childhood 2, Dystonia 12
RS387907282 ATP1A3 Health Risk Pathogenic Alternating hemiplegia of childhood 2, Dystonia 12
RS387907283 SMAD6 Health Risk Pathogenic Aortic valve disease 2, Aortic valve disease 2
RS387907285 KIF5A Health Risk Pathogenic Hereditary spastic paraplegia 10, Spastic paraplegia
RS387907286 KIF5A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 10, Spastic paraplegia
RS387907287 KIF5A Health Risk Likely pathogenic Hereditary spastic paraplegia 10, Spastic paraplegia
RS387907288 KIF5A Health Risk Likely pathogenic Hereditary spastic paraplegia 10, Hereditary spastic paraplegia
RS387907289 KIF5A Health Risk Likely pathogenic Hereditary spastic paraplegia 10, Hereditary spastic paraplegia 10
RS387907290 NMNAT1 Health Risk Pathogenic Leber congenital amaurosis 9, Leber congenital amaurosis 9
RS387907291 NMNAT1 Health Risk Pathogenic Leber congenital amaurosis 9, Leber congenital amaurosis 9
RS387907293 NMNAT1 Health Risk Pathogenic Leber congenital amaurosis 9, Leber congenital amaurosis 9
RS387907294 NMNAT1 Health Risk Pathogenic Leber congenital amaurosis 9, Retinal dystrophy
RS387907295 SLCO2A1 Health Risk Pathogenic/Likely pathogenic Hypertrophic osteoarthropathy, primary
RS387907296 SLCO2A1 Health Risk Pathogenic Hypertrophic osteoarthropathy, primary
RS387907297 SLCO2A1 Health Risk Pathogenic Hypertrophic osteoarthropathy, primary
RS387907298 SGCA Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Abnormality of the musculature
RS387907299 POMGNT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS387907300 POMGNT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS387907301 XIAP Health Risk Pathogenic X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
RS387907302 KCNV2 Health Risk Pathogenic Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
RS387907303 SKI Health Risk Pathogenic/Likely pathogenic Shprintzen-Goldberg syndrome, Shprintzen-Goldberg syndrome
RS387907304 SKI Health Risk Pathogenic Shprintzen-Goldberg syndrome, Inborn genetic diseases
RS387907305 SKI Health Risk Pathogenic Shprintzen-Goldberg syndrome, Shprintzen-Goldberg syndrome
RS387907306 SKI Health Risk Pathogenic Shprintzen-Goldberg syndrome, Inborn genetic diseases
RS387907307 TICAM1 Health Risk risk factor Herpes simplex encephalitis, susceptibility to
RS387907308 NIN Health Risk Conflicting classifications of pathogenicity Seckel syndrome 7, Seckel syndrome 7
RS387907309 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS387907310 CEP164 Health Risk Pathogenic/Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS387907311 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS387907312 SLC2A1 Health Risk Pathogenic Dystonia 9, GLUT1 deficiency syndrome 1
RS387907313 SLC2A1 Health Risk Pathogenic/Likely pathogenic Epilepsy, idiopathic generalized
RS387907314 MERTK Health Risk Pathogenic Retinitis pigmentosa 38, Autosomal recessive retinitis pigmentosa
RS387907315 ABCD4 Health Risk Pathogenic Methylmalonic acidemia with homocystinuria, type cblJ
RS387907316 STK4 Health Risk Pathogenic Combined immunodeficiency due to STK4 deficiency, Inherited Immunodeficiency Diseases
RS387907317 ABCB11 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS387907319 SMCHD1 Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS387907320 CCDC88C Health Risk Pathogenic Hydrocephalus, nonsyndromic
RS387907321 CCDC88C Health Risk Likely pathogenic Hydrocephalus, nonsyndromic
RS387907322 CYP24A1 Health Risk Pathogenic/Likely pathogenic Hypercalcemia, infantile
RS387907323 CYP24A1 Health Risk Pathogenic Hypercalcemia, infantile
RS387907324 CYP24A1 Health Risk Pathogenic/Likely pathogenic Hypercalcemia, infantile
RS387907325 FKBP10 Health Risk Pathogenic Osteogenesis imperfecta type 12, Osteogenesis imperfecta type 12
RS387907326 IL10RB Health Risk Pathogenic Inflammatory bowel disease 25, Inflammatory bowel disease 25
RS387907327 ATR Health Risk Pathogenic Seckel syndrome 1, Seckel syndrome 1
RS387907328 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, See cases
RS387907329 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, 6 conditions
RS387907330 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS387907331 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS387907332 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS387907333 CRTAP Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS387907334 CRTAP Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS387907335 PIKFYVE Health Risk Pathogenic Fleck corneal dystrophy, Fleck corneal dystrophy
RS387907336 CRYAB Health Risk Pathogenic Cataract 16 multiple types, Cataract 16 multiple types
RS387907337 CRYAB Health Risk Pathogenic Cataract 16 multiple types, Cataract 16 multiple types
RS387907338 CRYAB Health Risk Conflicting classifications of pathogenicity Cataract 16 multiple types, Dilated cardiomyopathy 1II
RS387907339 CRYAB Health Risk Pathogenic Myofibrillar myopathy 2, Myofibrillar myopathy 2
RS387907340 GNB4 Health Risk Likely pathogenic Charcot-Marie-Tooth disease dominant intermediate F, Charcot-Marie-Tooth disease dominant intermediate F
RS387907341 GNB4 Health Risk Pathogenic Charcot-Marie-Tooth disease dominant intermediate F, Charcot-Marie-Tooth disease dominant intermediate F
RS387907342 CRYGB Health Risk Pathogenic Cataract 39 multiple types, Cataract 39 multiple types
RS387907343 LAMB1 Health Risk Pathogenic Cobblestone lissencephaly without muscular or ocular involvement, Cobblestone lissencephaly without muscular or ocular involvement
RS387907344 LAMB1 Health Risk Pathogenic Cobblestone lissencephaly without muscular or ocular involvement, Cobblestone lissencephaly without muscular or ocular involvement
RS387907345 ACTN1 Health Risk Pathogenic/Likely pathogenic Platelet-type bleeding disorder 15, Macrothrombocytopenia
RS387907346 ACTN1 Health Risk Pathogenic Platelet-type bleeding disorder 15, Platelet-type bleeding disorder 15
RS387907347 ACTN1 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 15, Platelet-type bleeding disorder 15
RS387907348 ACTN1 Health Risk Pathogenic/Likely pathogenic Platelet-type bleeding disorder 15, Macrothrombocytopenia
RS387907349 ACTN1 Health Risk Conflicting classifications of pathogenicity —
RS387907350 ACTN1 Health Risk Pathogenic Platelet-type bleeding disorder 15, Macrothrombocytopenia
RS387907351 CARD11 Health Risk Pathogenic BENTA disease, BENTA disease
RS387907352 CARD11 Health Risk Pathogenic BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency
RS387907353 WNT1 Health Risk Pathogenic; risk factor Osteogenesis imperfecta type 15, OSTEOPOROSIS
RS387907354 WNT1 Health Risk Pathogenic Osteogenesis imperfecta type 15, Osteogenesis imperfecta type 15
RS387907355 WNT1 Health Risk Pathogenic Osteogenesis imperfecta type 15, Osteogenesis imperfecta type 15
RS387907356 WNT1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 15, Inborn genetic diseases
RS387907357 WNT1 Health Risk Pathogenic Osteogenesis imperfecta type 15, Osteogenesis imperfecta type 15
RS387907358 WNT1 Health Risk Likely pathogenic Osteogenesis imperfecta type 15, Keratoconus
RS387907359 WNT1 Health Risk Likely pathogenic OSTEOPOROSIS, EARLY-ONSET
RS387907360 MED12 Health Risk Conflicting classifications of pathogenicity Blepharophimosis - intellectual disability syndrome, MKB type
RS387907361 MED12 Health Risk Pathogenic Blepharophimosis - intellectual disability syndrome, MKB type
RS387907362 MED12 Health Risk Pathogenic Blepharophimosis - intellectual disability syndrome, MKB type
RS387907363 SNAP29 Health Risk Pathogenic CEDNIK syndrome, CEDNIK syndrome
RS387907364 KAT6B Health Risk Pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type
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