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
RS569947936 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS569948031 RECQL4 Health Risk Likely pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS569955570 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS569973034 COL9A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS569973824 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS569974617 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS569974719 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Susceptibility to mononeuropathy of the median nerve
RS569981883 ALDOB Health Risk Conflicting classifications of pathogenicity Hereditary fructosuria, ALDOB-related disorder
RS569983068 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS569992163 KCNV2 Health Risk Pathogenic —
RS569997475 MANBA Health Risk Conflicting classifications of pathogenicity Intellectual disability, Beta-D-mannosidosis
RS569997507 SPTAN1 Health Risk Conflicting classifications of pathogenicity Self-limited epilepsy with centrotemporal spikes, Developmental and epileptic encephalopathy
RS570006227 POP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS570009776 COL4A1 Health Risk Conflicting classifications of pathogenicity Brain small vessel disease 1 with or without ocular anomalies, Retinal arterial tortuosity
RS570010538 FLNC Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
RS570013652 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS570016062 SLC25A22 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS570020451 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS570022823 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS570036369 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS570039271 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS570041689 RPA1 Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, telomere-related
RS570042882 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS570046043 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS570047465 TYMP Health Risk Conflicting classifications of pathogenicity Mitochondrial neurogastrointestinal encephalomyopathy, Mitochondrial DNA depletion syndrome 1
RS570051117 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS570056677 AGTR1 Health Risk Conflicting classifications of pathogenicity Essential hypertension, genetic
RS570058149 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10
RS570058270 GFI1B Health Risk Likely pathogenic Platelet-type bleeding disorder 17, Platelet-type bleeding disorder 17
RS570062125 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS570065416 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Cervical cancer
RS570069789 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS570076170 NPHP3 Health Risk Conflicting classifications of pathogenicity Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome
RS570078140 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS570079347 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, MYH7-related skeletal myopathy
RS570091335 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS570097430 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS570105218 CNPY3 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 60
RS570106950 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PIEZO1-related disorder
RS570110822 DCAF17 Health Risk Conflicting classifications of pathogenicity Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
RS570111306 L2HGDH Health Risk Likely pathogenic L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
RS570116954 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS570119913 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS570123407 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Benign neonatal seizures
RS570127242 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS570130189 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS570134110 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS570136508 MUSK Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS570139975 KCNQ2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS570143443 NDUFAF5 Health Risk Conflicting classifications of pathogenicity —
RS570149409 CFAP74 Health Risk Pathogenic Ciliary dyskinesia, primary
RS570157673 LSS Health Risk Pathogenic Alopecia-intellectual disability syndrome 4, Alopecia-intellectual disability syndrome 4
RS570167996 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Regional enteritis
RS570170859 DAB1 Health Risk Conflicting classifications of pathogenicity —
RS570176656 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS570190374 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases
RS57019720 KRT9 Health Risk Pathogenic Epidermolytic palmoplantar keratoderma, 1
RS570198729 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Telangiectasia
RS570207081 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS570209023 CIZ1 Health Risk Conflicting classifications of pathogenicity Dystonic disorder, Dystonic disorder
RS570210229 SUCLG1 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 9, Mitochondrial DNA depletion syndrome 9
RS570214336 STRA6 Health Risk Pathogenic Matthew-Wood syndrome, Matthew-Wood syndrome
RS570222177 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Occult macular dystrophy
RS570224404 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS570231965 VARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 20, VARS2-related disorder
RS570233664 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS570248730 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS570264094 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS570269920 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS570277510 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Usher syndrome type 2A
RS570278338 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS570278423 SDHB Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Pheochromocytoma
RS570278983 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, NSD1-related disorder
RS570279865 SMAD6 Health Risk Pathogenic Radioulnar synostosis, Radioulnar synostosis
RS570279948 PROM1 Health Risk Likely pathogenic —
RS570281194 GHRHR Health Risk Likely pathogenic Isolated growth hormone deficiency, type 4
RS57028199 CBL Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, Noonan syndrome and Noonan-related syndrome
RS570294713 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS570316231 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 11, Usher syndrome type 1
RS570320774 COL2A1 Health Risk Conflicting classifications of pathogenicity 16 conditions, Inborn genetic diseases
RS570335069 MAGEL2 Health Risk Conflicting classifications of pathogenicity —
RS570336313 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS570339629 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, Osteopetrosis
RS570341380 ANO5 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS570341792 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS570343418 WRAP53 Health Risk Conflicting classifications of pathogenicity —
RS570349090 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS570355453 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Inborn genetic diseases
RS570356711 KMT2E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS570371168 HPS4 Health Risk Conflicting classifications of pathogenicity HPS4-related disorder, HPS4-related disorder
RS570378547 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome
RS570379164 SCN1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS570380438 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS570382990 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS570388861 ABCC8 Health Risk Pathogenic/Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS57039241 TBX19 Health Risk Conflicting classifications of pathogenicity Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency
RS570401263 RAX Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 3, Isolated microphthalmia 3
RS570402166 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS570408889 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2O
RS570409651 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
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