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
RS1395112297 TECPR2 Health Risk Pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS139511264 LAMB2 Health Risk Conflicting classifications of pathogenicity Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS1395114113 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS139511903 DIABLO Health Risk Conflicting classifications of pathogenicity DIABLO-related disorder, DIABLO-related disorder
RS139512218 SPRY4 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 17 with or without anosmia, Amenorrhea
RS1395122785 SLC26A2 Health Risk Likely pathogenic Achondrogenesis, type IB
RS1395124261 VSX2 Health Risk Pathogenic Isolated microphthalmia 2, Microphthalmia
RS139514301 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Inborn genetic diseases
RS139515054 XDH Health Risk Conflicting classifications of pathogenicity Xanthinuria type II, Hereditary xanthinuria type 1
RS1395153921 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS139515659 ACTN2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Primary familial hypertrophic cardiomyopathy
RS139515727 VARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 20, Inborn genetic diseases
RS1395159421 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS1395162926 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS139516327 ADAMTS18 Health Risk Pathogenic/Likely pathogenic Microcornea-myopic chorioretinal atrophy, Retinal disorder
RS139516378 ISG15 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
RS139516442 MUSK Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS139516538 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Chorea-acanthocytosis
RS139516987 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Inborn genetic diseases
RS1395172053 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS139517572 EYS Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 25
RS139517699 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS139517839 HPS6 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
RS139517943 SLC10A2 Health Risk Conflicting classifications of pathogenicity SLC10A2-related disorder, SLC10A2-related disorder
RS1395191127 JMJD8;STUB1 Health Risk Pathogenic/Likely pathogenic Spinocerebellar ataxia 48, Spinocerebellar ataxia 48
RS139519507 ETFB Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Inborn genetic diseases
RS139519641 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 13
RS139520402 TPRN Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 79, Inborn genetic diseases
RS1395205685 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS139520739 ACSF3 Health Risk Pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS139521179 ALG14 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 15, ALG14-related disorder
RS139521707 COL7A1 Health Risk Conflicting classifications of pathogenicity Generalized dominant dystrophic epidermolysis bullosa, Epidermolysis bullosa dystrophica
RS1395223954 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS139522696 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2
RS139523655 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Inborn genetic diseases
RS139524110 SRCAP Health Risk Conflicting classifications of pathogenicity Developmental delay, hypotonia
RS139524121 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS139525250 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS139525746 OTOF Health Risk Conflicting classifications of pathogenicity —
RS139526001 F8 Health Risk Pathogenic/Likely pathogenic Hereditary factor IX deficiency disease, Hereditary factor VIII deficiency disease
RS139526942 NAGPA Health Risk Conflicting classifications of pathogenicity Stuttering, familial persistent
RS139527231 C3 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency
RS1395276529 CDHR1 Health Risk Pathogenic Retinitis pigmentosa 65, Retinitis pigmentosa 65
RS139528477 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, CPLANE1-related disorder
RS1395288001 MSH3 Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 4, Endometrial carcinoma
RS139529686 DLL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
RS139529811 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1395304450 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS139531404 C1R Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, periodontal type 1
RS1395315449 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS139531639 CAVIN1 Health Risk Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 4, CAVIN1-related disorder
RS139531653 GAD1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Inborn genetic diseases
RS1395319276 SLC12A3 Health Risk Pathogenic —
RS139532485 ARHGEF15 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1395325049 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS139532757 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS139533720 DNAH8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH8-related disorder
RS1395351821 KAT6A Health Risk Pathogenic/Likely pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Inborn genetic diseases
RS139535966 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1395363276 PHKG2 Health Risk Pathogenic Glycogen storage disease IXc, Glycogen storage disease IXc
RS139536545 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Spermatogenic failure 28
RS1395367133 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Familial isolated arrhythmogenic right ventricular dysplasia
RS1395368098 SYNGAP1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS139537086 SNTA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS139537251 SCN4A Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis
RS139537546 TTC21B Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Nephronophthisis
RS1395378093 PROS1 Health Risk Likely pathogenic Protein S deficiency disease, Protein S deficiency disease
RS1395379702 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS139538731 GCM2 Health Risk Conflicting classifications of pathogenicity Familial hypoparathyroidism, Familial hypoparathyroidism
RS139539448 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS139539525 PPP1R15B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PPP1R15B-related disorder
RS1395411307 NPHP3 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS1395417660 SLC26A3 Health Risk Pathogenic —
RS139542422 SRCAP Health Risk Conflicting classifications of pathogenicity Developmental delay, hypotonia
RS139543775 WDR35 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly
RS139544072 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS139544114 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS139544245 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4
RS139544273 MYH3 Health Risk Conflicting classifications of pathogenicity Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome
RS139544302 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, Achromatopsia 2
RS139545002 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS139545104 SCO2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS139545952 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS139547145 AGK Health Risk Conflicting classifications of pathogenicity Sengers syndrome, Cataract 38
RS139547269 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, Fanconi anemia
RS139547471 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, ELN-related disorder
RS1395475624 SCAPER Health Risk Pathogenic/Likely pathogenic Moderate intellectual disability, Rod-cone dystrophy
RS139547641 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Usher syndrome type 1F
RS1395477387 PEX6 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS1395478201 ASL Health Risk Pathogenic/Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS139548132 LOC129931299;WARS2;WARS2-AS1 Health Risk Likely pathogenic Neurodevelopmental disorder, mitochondrial
RS1395482031 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS139548702 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS139548761 ESR1 Health Risk Conflicting classifications of pathogenicity —
RS1395498196 COQ8A Health Risk Pathogenic —
RS1395504465 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1395509692 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS139551409 SLC45A2 Health Risk Pathogenic —
RS139552118 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21
RS1395523441 POLH Health Risk Pathogenic —
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