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
RS1768358162 COL12A1 Health Risk Pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1768359621 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1768361715 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1768367412 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1768371329 EYS Health Risk Pathogenic —
RS1768373125 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1768377655 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1768381543 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1768382090 EYS Health Risk Pathogenic —
RS1768386253 EYS Health Risk Pathogenic —
RS1768387288 EYS Health Risk Pathogenic —
RS1768389030 EYS Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1768393965 EYS Health Risk Pathogenic —
RS1768394971 CNPY3 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 60
RS1768400035 EYS Health Risk Pathogenic —
RS1768416586 COL12A1 Health Risk Pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1768488927 COL12A1 Health Risk Likely pathogenic Bethlem myopathy 2, Bethlem myopathy 2
RS1768495540 COL12A1 Health Risk Likely pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1768517145 SIL1 Health Risk Pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS1768581035 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1768621810 EYS Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1768621880 EYS Health Risk Pathogenic —
RS1768622603 EYS Health Risk Pathogenic —
RS1768627952 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1768634470 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS1768655161 ADGRV1 Health Risk Likely pathogenic —
RS1768657480 EYS Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1768702301 COL12A1 Health Risk Pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1768708203 COL12A1 Health Risk Likely pathogenic —
RS1768754157 TULP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1768790302 GTPBP2 Health Risk Likely pathogenic Jaberi-Elahi syndrome, Jaberi-Elahi syndrome
RS1768796944 FNIP1 Health Risk Pathogenic —
RS1768797517 TULP1 Health Risk Pathogenic —
RS1768803733 TULP1 Health Risk Pathogenic —
RS1768809177 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1768838504 SGCD Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
RS1768907217 ADGRV1 Health Risk Pathogenic —
RS1768930040 CD2AP Health Risk Likely pathogenic CD2AP-related disorder, CD2AP-related disorder
RS1768947396 SLC17A5 Health Risk Pathogenic/Likely pathogenic Sialic acid storage disease, severe infantile type
RS1768947811 SLC17A5 Health Risk Pathogenic Salla disease, Salla disease
RS1768948534 SLC17A5 Health Risk Likely pathogenic Sialic acid storage disease, severe infantile type
RS1768955731 RARS2 Health Risk Pathogenic —
RS1768957914 TAP2 Health Risk Pathogenic MHC class I deficiency, MHC class I deficiency 2
RS1768958447 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1769021763 SLC17A5 Health Risk Pathogenic/Likely pathogenic Sialic acid storage disease, severe infantile type
RS1769042136 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1769045757 COL12A1 Health Risk Pathogenic Ullrich congenital muscular dystrophy 2, Ullrich congenital muscular dystrophy 2
RS1769050790 CD2AP Health Risk Pathogenic —
RS1769085821 BCKDHB Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1B
RS1769124033 SLC17A5 Health Risk Likely pathogenic Salla disease, Salla disease
RS1769129693 SLC17A5 Health Risk Pathogenic Salla disease, Salla disease
RS1769133149 TAP2 Health Risk Pathogenic MHC class I deficiency, MHC class I deficiency
RS1769138467 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1769147841 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1769153825 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1769197412 PHIP Health Risk Pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1769225531 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS1769229991 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1769232570 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1769233531 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1769239782 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1769260264 COL12A1 Health Risk Pathogenic —
RS1769267226 EYS Health Risk Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 25
RS1769272826 EYS Health Risk Pathogenic —
RS1769303765 SLC17A5 Health Risk Pathogenic Salla disease, Salla disease
RS1769342165 TAP2 Health Risk Likely pathogenic MHC class I deficiency, MHC class I deficiency
RS1769469813 EYS Health Risk Likely pathogenic Retinal dystrophy, Retinitis pigmentosa
RS1769471082 EYS Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1769471435 EYS Health Risk Pathogenic —
RS1769476342 EYS Health Risk Pathogenic —
RS1769479905 EYS Health Risk Pathogenic/Likely pathogenic —
RS1769508571 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1769515132 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1769605097 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1769631840 COL9A1 Health Risk Pathogenic —
RS1769657526 ADGRV1 Health Risk Pathogenic —
RS1769668162 EYS Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1769669798 EYS Health Risk Pathogenic —
RS1769684609 OCLN Health Risk Likely pathogenic —
RS1769688206 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger)
RS1769690100 ADGRV1 Health Risk Pathogenic —
RS1769692830 LCA5 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1769694196 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
RS1769695958 LCA5 Health Risk Pathogenic —
RS1769696205 LCA5 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS1769703329 LCA5 Health Risk Likely pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS1769706250 LCA5 Health Risk Pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS1769707298 LCA5 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1769707423 LCA5 Health Risk Pathogenic —
RS1769710277 LCA5 Health Risk Pathogenic —
RS1769712635 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder
RS1769760726 DNAH8 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1769761816 LCA5 Health Risk Pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS1769762719 LCA5 Health Risk Pathogenic —
RS1769772582 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Heimler syndrome 2
RS1769796270 NT5E Health Risk Likely pathogenic NT5E-related disorder, NT5E-related disorder
RS1769818844 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 4A (Zellweger)
RS1769843934 LCA5 Health Risk Likely pathogenic —
RS1769845495 LCA5 Health Risk Pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS1769875600 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
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