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
RS1705803915 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS1705825067 ROBO1 Health Risk Pathogenic/Likely pathogenic Pituitary stalk interruption syndrome, Pituitary stalk interruption syndrome
RS1705825244 ROBO1 Health Risk Conflicting classifications of pathogenicity Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
RS1705879851 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS17058845 FLNB Health Risk Likely pathogenic Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome
RS1706021603 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS1706021639 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1706032688 TRNT1 Health Risk Pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RS1706033199 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS1706063163 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1706104379 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1706137764 TRNT1 Health Risk Pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RS1706186945 TRNT1 Health Risk Pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RS1706189208 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1706240480 FYCO1 Health Risk Likely pathogenic Cataract 18, Cataract 18
RS1706250496 IMPG2 Health Risk Conflicting classifications of pathogenicity —
RS1706261533 IMPG2 Health Risk Pathogenic —
RS1706269517 ROBO1 Health Risk Pathogenic Congenital anomaly of kidney and urinary tract, Neurooculorenal syndrome
RS1706274257 ROBO1 Health Risk Likely pathogenic Heart, malformation of
RS1706305751 IMPG2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 56, Retinal dystrophy
RS1706318738 TNNC1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z
RS1706331057 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1706342425 TTN Health Risk Likely pathogenic Cardiomyopathy, Cardiovascular phenotype
RS1706370933 TNNC1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13
RS1706370994 TNNC1 Health Risk Pathogenic Dilated cardiomyopathy 1Z, Dilated cardiomyopathy 1Z
RS1706422873 IMPG2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1706423076 IMPG2 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1706423187 IMPG2 Health Risk Pathogenic —
RS1706423758 IMPG2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1706425401 IMPG2 Health Risk Conflicting classifications of pathogenicity Vitelliform macular dystrophy 2, Vitelliform macular dystrophy 2
RS1706425812 IMPG2 Health Risk Pathogenic —
RS1706436657 IMPG2 Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 56
RS1706436727 IMPG2 Health Risk Pathogenic —
RS1706439944 IMPG2 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1706441535 IMPG2 Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, Vitelliform macular dystrophy 5
RS1706448011 IMPG2 Health Risk Pathogenic —
RS1706454284 IMPG2 Health Risk Pathogenic —
RS1706456124 IMPG2 Health Risk Pathogenic Vitelliform macular dystrophy 5, Vitelliform macular dystrophy 5
RS1706473340 IMPG2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1706474271 IMPG2 Health Risk Pathogenic —
RS1706474422 IMPG2 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1706475153 IMPG2 Health Risk Pathogenic Retinitis pigmentosa 56, Retinitis pigmentosa 56
RS1706526416 POU1F1 Health Risk Conflicting classifications of pathogenicity Pituitary hormone deficiency, combined
RS1706568274 IMPG2 Health Risk Likely pathogenic —
RS1706625164 IMPG2 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1706627038 IMPG2 Health Risk Pathogenic —
RS1706627397 IMPG2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1706676495 ROBO1 Health Risk Likely pathogenic Congenital anomaly of kidney and urinary tract, Neurooculorenal syndrome
RS1706720091 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1706733354 IMPG2 Health Risk Likely pathogenic —
RS1706755871 IMPG2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1706807912 CRBN Health Risk Pathogenic —
RS1706811719 IMPG2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Vitelliform macular dystrophy 5
RS1706833794 IMPG2 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1706840484 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1706843510 IMPG2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1706965994 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS1707008452 IMPG2 Health Risk Pathogenic Retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS17070145 WWC1 Health Risk association Memory quantitative trait locus, Memory quantitative trait locus
RS1707088255 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1707165087 IMPG2 Health Risk Likely pathogenic —
RS1707171202 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS1707172225 MBD5 Health Risk Likely pathogenic —
RS1707186504 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS1707205123 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1707280155 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1707310281 DOHH Health Risk Pathogenic DOHH related neurodevelopmental disorder, Neurodevelopmental disorder with microcephaly
RS1707346649 SHQ1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with dystonia and seizures, Neurodevelopmental disorder with dystonia and seizures
RS1707425522 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1707450601 ROBO1 Health Risk Likely pathogenic Increased nuchal translucency, Increased nuchal translucency
RS1707471794 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1707503235 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1707514832 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1707618662 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS17077744 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS1707782133 CRBN Health Risk Pathogenic Intellectual disability, autosomal recessive 2
RS1707893646 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1707914737 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1707989337 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1708041287 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1708081683 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1708095030 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS17081072 COL23A1 Health Risk association Vascular endothelial growth factor (VEGF) inhibitor response, Vascular endothelial growth factor (VEGF) inhibitor response
RS1708139265 CAV3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 1, Elevated circulating creatine kinase concentration
RS1708152510 PROS1 Health Risk Pathogenic Thrombophilia due to protein S deficiency, autosomal recessive
RS1708187577 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS1708190814 CTRC Health Risk Likely pathogenic Hereditary pancreatitis, Hereditary pancreatitis
RS1708235406 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1708239888 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS1708240463 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS1708277443 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1708347661 PROS1 Health Risk Likely pathogenic Thrombophilia due to protein S deficiency, autosomal recessive
RS1708368133 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1708453639 PROS1 Health Risk Pathogenic Thrombophilia due to protein S deficiency, autosomal recessive
RS1708468046 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1708504899 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS1708515209 NGLY1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS1708526179 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1708536031 PROS1 Health Risk Pathogenic Thrombophilia due to protein S deficiency, autosomal recessive
RS1708542756 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
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