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
RS2109060174 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2109060214 CC2D2A Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2109061743 CC2D2A Health Risk Likely pathogenic —
RS2109070129 CC2D2A Health Risk Likely pathogenic Joubert syndrome 9, Joubert syndrome 9
RS2109070551 OPA1 Health Risk Pathogenic —
RS2109070604 CC2D2A Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2109070607 CC2D2A Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2109070615 CC2D2A Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2109077865 CC2D2A Health Risk Pathogenic Meckel-Gruber syndrome, Meckel-Gruber syndrome
RS2109077880 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2109083312 CC2D2A Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2109083754 OPA1 Health Risk Pathogenic —
RS2109083888 OPA1 Health Risk Pathogenic —
RS2109090291 CC2D2A Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2109107823 WFS1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus
RS2109112564 PDE6B Health Risk Pathogenic —
RS2109119524 WFS1 Health Risk Likely pathogenic —
RS2109125016 WFS1 Health Risk Conflicting classifications of pathogenicity Congenital bilateral perisylvian syndrome, Optic atrophy
RS2109125046 WFS1 Health Risk Pathogenic —
RS2109125157 WFS1 Health Risk Pathogenic Wolfram syndrome 1, Wolfram syndrome 1
RS2109125327 WFS1 Health Risk Pathogenic Wolfram syndrome 1, Wolfram syndrome 1
RS2109125661 WFS1 Health Risk Likely pathogenic Wolfram syndrome 1, Wolfram syndrome 1
RS2109125846 WFS1 Health Risk Pathogenic/Likely pathogenic Wolfram syndrome 1, Wolfram syndrome 1
RS2109126109 WFS1 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus
RS2109126894 WFS1 Health Risk Pathogenic —
RS2109127017 WFS1 Health Risk Conflicting classifications of pathogenicity Cataract 41, Cataract 41
RS2109127018 WFS1 Health Risk Pathogenic —
RS2109127192 WFS1 Health Risk Likely pathogenic Wolfram syndrome 1, Wolfram syndrome 1
RS2109127427 WFS1 Health Risk Likely pathogenic —
RS2109127534 WFS1 Health Risk Likely pathogenic —
RS2109133174 PDE6B Health Risk Pathogenic Retinitis pigmentosa 40, Retinitis pigmentosa 40
RS2109137293 PDE6B Health Risk Pathogenic —
RS2109138350 GNAT1 Health Risk Pathogenic —
RS2109138520 GNAT1 Health Risk Pathogenic —
RS2109138708 OPA1 Health Risk Likely pathogenic —
RS2109138909 OPA1 Health Risk Pathogenic/Likely pathogenic Optic atrophy, Autosomal dominant optic atrophy classic form
RS2109139201 GNAT1 Health Risk Likely pathogenic —
RS2109139343 OPA1 Health Risk Conflicting classifications of pathogenicity —
RS2109139435 OPA1 Health Risk Likely pathogenic Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS2109139510 OPA1 Health Risk Pathogenic —
RS2109157808 SLC38A3 Health Risk Pathogenic Developmental and epileptic encephalopathy 102, Developmental and epileptic encephalopathy 102
RS2109158868 SLC38A3 Health Risk Pathogenic Developmental and epileptic encephalopathy 102, Developmental and epileptic encephalopathy 102
RS2109158872 SLC38A3 Health Risk Pathogenic Developmental and epileptic encephalopathy 102, Developmental and epileptic encephalopathy 102
RS2109159077 SLC38A3 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 102, Developmental and epileptic encephalopathy 102
RS2109163061 OPA1 Health Risk Pathogenic —
RS2109163111 OPA1 Health Risk Pathogenic —
RS2109163266 OPA1 Health Risk Pathogenic —
RS2109163970 OPA1 Health Risk Pathogenic —
RS2109193286 OPA1 Health Risk Pathogenic —
RS2109193662 PDE6B;PDE6B-AS1 Health Risk Pathogenic Retinitis pigmentosa 40, Retinitis pigmentosa 40
RS2109207796 PDE6B Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2109208075 PDE6B Health Risk Likely pathogenic —
RS2109214218 PDE6B Health Risk Pathogenic —
RS2109232184 OPA1 Health Risk Pathogenic —
RS2109252915 PDE6B Health Risk Pathogenic —
RS2109253558 OPA1 Health Risk Pathogenic Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS2109253692 OPA1 Health Risk Pathogenic —
RS2109255277 PDE6B Health Risk Pathogenic —
RS2109267841 OPA1 Health Risk Pathogenic —
RS2109268057 OPA1 Health Risk Pathogenic Optic atrophy, Optic atrophy
RS2109277041 OPA1 Health Risk Conflicting classifications of pathogenicity —
RS2109277786 OPA1 Health Risk Pathogenic —
RS2109284029 PDE6B Health Risk Likely pathogenic Retinitis pigmentosa 40, Retinitis pigmentosa 40
RS2109291659 NAA80 Health Risk Pathogenic/Likely pathogenic See cases, Auroneurodental syndrome
RS2109297204 UVSSA Health Risk Pathogenic —
RS2109299952 WDR19 Health Risk Pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS2109300967 WDR19 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS2109304251 HYAL1 Health Risk Pathogenic Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
RS2109307152 HYAL1 Health Risk Pathogenic Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
RS2109307739 HYAL1 Health Risk Pathogenic Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
RS2109309063 HYAL1 Health Risk Pathogenic Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
RS2109312461 DOK7 Health Risk Likely pathogenic Fetal akinesia deformation sequence 3, Fetal akinesia deformation sequence 3
RS2109312898 SLC33A1 Health Risk Pathogenic Spastic paraplegia, Huppke-Brendel syndrome
RS2109322411 HYAL2 Health Risk Pathogenic HYAL2 deficiency, Muggenthaler-Chowdhury-Chioza syndrome
RS2109322692 WDR19 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS2109322891 WDR19 Health Risk Pathogenic Cranioectodermal dysplasia 4, Cranioectodermal dysplasia 4
RS2109324483 HYAL2 Health Risk Pathogenic/Likely pathogenic Muggenthaler-Chowdhury-Chioza syndrome, HYAL2 deficiency
RS2109324707 HYAL2 Health Risk Likely pathogenic HYAL2 deficiency, HYAL2 deficiency
RS2109336441 DOK7 Health Risk Pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS2109351409 GABRA2 Health Risk Pathogenic/Likely pathogenic Alcohol dependence, Developmental and epileptic encephalopathy
RS2109351550 GABRA2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 78
RS2109356853 ZMYND10 Health Risk Pathogenic Primary ciliary dyskinesia 22, Primary ciliary dyskinesia 22
RS2109356957 ZMYND10 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, ZMYND10-related disorder
RS2109358597 WDR19 Health Risk Pathogenic Nephronophthisis 13, Nephronophthisis 13
RS2109364484 NPRL2 Health Risk Likely pathogenic Epilepsy, familial focal
RS2109365845 NPRL2 Health Risk Likely pathogenic Epilepsy, familial focal
RS2109368360 NPRL2 Health Risk Likely pathogenic —
RS2109368530 NPRL2 Health Risk Likely pathogenic Neonatal respiratory distress, Neonatal respiratory distress
RS2109369117 DOK7 Health Risk Likely pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS2109369924 SGCB Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS2109370013 NPRL2 Health Risk Pathogenic Epilepsy, familial focal
RS2109370066 SGCB Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS2109370093 SGCB Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS2109370922 SGCB Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS2109371877 SGCB Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS2109372060 SGCB Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS2109372084 SGCB Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS2109375847 SGCB Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS2109376000 SGCB Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS2109376007 SGCB Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
« Prev 1 ... 1671 1672 1673 1674 1675 1676 1677 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →