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
RS1769876019 LCA5 Health Risk Pathogenic —
RS1769904494 LCA5 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis
RS1769905934 LCA5 Health Risk Likely pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS1769913209 PSMB8 Health Risk Pathogenic Proteosome-associated autoinflammatory syndrome, Proteosome-associated autoinflammatory syndrome
RS1769931559 EYS Health Risk Pathogenic —
RS1769934918 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Inborn genetic diseases
RS1769936722 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1769984400 SLC17A5 Health Risk Likely pathogenic Salla disease, Salla disease
RS1769988075 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Heimler syndrome 2
RS1769989432 POU3F2 Health Risk Likely pathogenic POU3F2-associated disorder, POU3F2-associated disorder
RS1769993888 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger)
RS1770032894 PHIP Health Risk Likely pathogenic —
RS1770111064 EYS Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 25
RS1770112191 EYS Health Risk Pathogenic EYS-related disorder, EYS-related disorder
RS1770114606 EYS Health Risk Likely pathogenic —
RS1770116834 COL11A2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1770166292 PEX6 Health Risk Pathogenic —
RS1770220135 C2 Health Risk Likely pathogenic Complement component 2 deficiency, Complement component 2 deficiency
RS1770226537 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Heimler syndrome 2
RS1770299906 EYS Health Risk Pathogenic —
RS1770307095 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1770319706 CEP120 Health Risk Likely pathogenic —
RS1770400284 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Heimler syndrome 2
RS1770406319 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder
RS1770412895 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1770433664 PEX6 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS1770436260 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger)
RS17704912 MYO18B Health Risk Pathogenic/Likely pathogenic Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
RS1770500301 ZNF292 Health Risk Likely pathogenic Intellectual developmental disorder, autosomal dominant 64
RS1770503105 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1770579596 FBXL4 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1770598885 NEK1 Health Risk Likely pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS1770718566 HNRNPH1 Health Risk Pathogenic Inborn genetic diseases, Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
RS1770802469 PHIP Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1770803533 PHIP Health Risk Likely pathogenic —
RS1770815162 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS1770832882 MTO1 Health Risk Likely pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
RS1770853358 TAP1 Health Risk Pathogenic MHC class I deficiency, MHC class I deficiency
RS1770904723 EYS Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 25
RS1770906719 EYS Health Risk Pathogenic —
RS1770963822 TAP1 Health Risk Pathogenic/Likely pathogenic MHC class I deficiency, MHC class I deficiency
RS1771082393 COL11A2 Health Risk Pathogenic —
RS1771148109 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS17711594 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS1771335561 RSPH9 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1771354257 PHIP Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1771370327 EYS Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1771378101 EYS Health Risk Likely pathogenic —
RS1771386636 PHIP Health Risk Pathogenic/Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1771389382 PHIP Health Risk Conflicting classifications of pathogenicity PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1771404948 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1771411002 MYO6 Health Risk Likely pathogenic Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
RS1771434910 MTO1 Health Risk Pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
RS1771437575 MTO1 Health Risk Pathogenic Inborn genetic diseases, Nonpapillary renal cell carcinoma
RS1771488619 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1771601609 MAB21L2 Health Risk Likely pathogenic Colobomatous microphthalmia-rhizomelic dysplasia syndrome, Colobomatous microphthalmia-rhizomelic dysplasia syndrome
RS1771729432 KCNQ5 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 46
RS1771788877 BLTP1 Health Risk Pathogenic Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome
RS1771846004 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1771899943 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1771924660 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1772009067 DTNBP1 Health Risk Likely pathogenic DTNBP1-related disorder, DTNBP1-related disorder
RS1772040461 HNRNPH1 Health Risk Likely pathogenic Intellectual disability, X-linked
RS1772042015 COL9A1 Health Risk Pathogenic —
RS1772090962 COL11A2 Health Risk Pathogenic/Likely pathogenic —
RS17721059 DCTN1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS17721570 PYGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type VI
RS1772190647 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1772196982 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1772219649 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1772220687 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1772232595 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1772296823 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1772348297 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1772351745 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1772364866 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1772369775 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1772380356 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1772384576 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1772389754 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1772395170 SKIC2 Health Risk Pathogenic —
RS1772433499 SKIC2 Health Risk Pathogenic —
RS1772453347 RARS2 Health Risk Likely pathogenic Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
RS1772455536 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1772464385 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1772510920 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1772516071 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1772529903 CEP120 Health Risk Pathogenic Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly
RS1772559884 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1772611373 SKIC2 Health Risk Pathogenic/Likely pathogenic Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS1772614934 EYS Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 25
RS1772618415 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1772619805 EYS Health Risk Pathogenic —
RS1772620298 EYS Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1772620934 EYS Health Risk Likely pathogenic —
RS1772621012 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Cone-rod dystrophy
RS1772632334 SKIC2 Health Risk Pathogenic —
RS1772636607 SKIC2 Health Risk Pathogenic —
RS1772636752 SKIC2 Health Risk Pathogenic/Likely pathogenic Trichohepatoenteric syndrome, Trichohepatoenteric syndrome
RS1772638226 SKIC2 Health Risk Likely pathogenic Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
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