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
RS2523375507 IKBKG Health Risk Likely pathogenic —
RS2523379864 IKBKG Health Risk Likely pathogenic —
RS2523387278 MTOR Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder, Autism spectrum disorder
RS2523390651 MACF1 Health Risk Likely pathogenic Lissencephaly 9 with complex brainstem malformation, Lissencephaly 9 with complex brainstem malformation
RS2523391493 RPL11 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia 7
RS2523394249 MFSD8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2523394868 RPL11 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2523395096 RPL11 Health Risk Pathogenic Diamond-Blackfan anemia 7, Diamond-Blackfan anemia 7
RS2523395100 RPL11 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2523395104 RPL11 Health Risk Pathogenic Diamond-Blackfan anemia 7, Diamond-Blackfan anemia 7
RS2523395112 RPL11 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2523395126 RPL11 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2523395201 RPL11 Health Risk Pathogenic Diamond-Blackfan anemia 7, Diamond-Blackfan anemia 7
RS2523396663 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Leber congenital amaurosis 2
RS2523396890 RPE65 Health Risk Pathogenic RPE65-related recessive retinopathy, RPE65-related recessive retinopathy
RS2523396904 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS2523398100 RPL11 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2523398326 RPL11 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 7, Diamond-Blackfan anemia 7
RS2523400044 RPL11 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2523400065 RPL11 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2523400088 RPL11 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2523400126 RPL11 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2523401629 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS2523401947 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Leber congenital amaurosis 2
RS2523402528 RPE65 Health Risk Pathogenic RPE65-related recessive retinopathy, Retinitis pigmentosa 87 with choroidal involvement
RS2523402677 RPE65 Health Risk Likely pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS2523403024 RPE65 Health Risk Likely pathogenic RPE65-related recessive retinopathy, RPE65-related recessive retinopathy
RS2523403039 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS2523403053 RPL11 Health Risk Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2523404003 RPE65 Health Risk Pathogenic RPE65-related recessive retinopathy, RPE65-related recessive retinopathy
RS2523404169 RPL11 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia, Diamond-Blackfan anemia 7
RS2523404237 RPL11 Health Risk Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2523404458 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Leber congenital amaurosis 2
RS2523423097 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Leber congenital amaurosis 2
RS2523423116 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS2523423126 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Leber congenital amaurosis 2
RS2523423130 RPE65 Health Risk Pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS2523424941 RPE65 Health Risk Pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS2523425413 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, RPE65-related recessive retinopathy
RS2523425771 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Leber congenital amaurosis 2
RS2523426253 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Leber congenital amaurosis 2
RS2523426476 RPE65 Health Risk Pathogenic RPE65-related recessive retinopathy, RPE65-related recessive retinopathy
RS2523426491 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS2523426757 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS2523426837 RPE65 Health Risk Pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS2523431817 RPE65 Health Risk Pathogenic RPE65-related recessive retinopathy, RPE65-related recessive retinopathy
RS2523432173 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2523432202 RPE65 Health Risk Pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS2523432243 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS2523432498 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Leber congenital amaurosis 2
RS2523433917 HUWE1 Health Risk Conflicting classifications of pathogenicity Trigonocephaly-short stature-developmental delay syndrome, Intellectual disability
RS2523444526 RPE65 Health Risk Likely pathogenic RPE65-related recessive retinopathy, RPE65-related recessive retinopathy
RS2523445043 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, RPE65-related recessive retinopathy
RS2523451761 RPE65 Health Risk Pathogenic Retinitis pigmentosa 20, Retinitis pigmentosa 20
RS2523452134 RPE65 Health Risk Pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS2523452284 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS2523452435 RPE65 Health Risk Pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS2523458090 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Leber congenital amaurosis 2
RS2523458378 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS2523458600 RPE65 Health Risk Pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS2523485070 IFI44 Health Risk Likely risk allele Susceptibility to severe COVID-19, Susceptibility to severe COVID-19
RS2523535627 CAMTA1 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2523535823 CAMTA1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2523546164 STAG2 Health Risk Conflicting classifications of pathogenicity Mullegama-Klein-Martinez syndrome, Holoprosencephaly 13
RS2523571543 CAMTA1 Health Risk Likely pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities
RS2523585627 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2523593612 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2523594699 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2523594850 DEPDC5 Health Risk Likely pathogenic —
RS2523597823 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS2523599050 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2523599212 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2523600628 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS2523601405 DEPDC5 Health Risk Likely pathogenic —
RS2523601984 ATP13A2 Health Risk Likely pathogenic Kufor-Rakeb syndrome, Kufor-Rakeb syndrome
RS2523603697 COL4A5 Health Risk Pathogenic —
RS2523608314 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS2523608853 ATP13A2 Health Risk Pathogenic Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS2523609463 ABCA4 Health Risk Pathogenic —
RS2523609659 ABCA4 Health Risk Pathogenic —
RS2523609688 ABCA4 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2523611526 HNRNPR Health Risk Pathogenic Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities
RS2523614402 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3
RS2523614510 ABCA4 Health Risk Pathogenic —
RS2523615188 ABCA4 Health Risk Pathogenic —
RS2523616146 HNRNPR Health Risk Pathogenic Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities
RS2523620344 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS2523620826 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS2523623300 ATP13A2 Health Risk Likely pathogenic Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
RS2523623980 ABCA4 Health Risk Likely pathogenic —
RS2523624130 ABCA4 Health Risk Pathogenic —
RS2523624176 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS2523624191 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS2523624439 ABCA4 Health Risk Likely pathogenic Retinitis pigmentosa 19, Retinitis pigmentosa 19
RS2523624821 ABCA4 Health Risk Likely pathogenic Retinal disorder, Retinal disorder
RS2523624881 ABCA4 Health Risk Pathogenic —
RS2523624919 ABCA4 Health Risk Pathogenic —
RS2523625058 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2523628002 ABCA4 Health Risk Likely pathogenic —
RS2523628298 ABCA4 Health Risk Likely pathogenic —
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