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
RS2100699601 AGRN Health Risk Pathogenic Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS2100699787 GNB1 Health Risk Likely pathogenic —
RS2100699881 GNB1 Health Risk Pathogenic Intellectual disability, autosomal dominant 42
RS2100699964 GNB1 Health Risk Pathogenic Intellectual disability, autosomal dominant 42
RS2100704859 DVL1 Health Risk Likely pathogenic Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2
RS2100714986 DVL1 Health Risk Pathogenic Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2
RS2100718483 DVL1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2
RS2100726769 GNB1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 42
RS2100733763 NPHP4 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS2100733826 NPHP4 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2100743480 PLOD1 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS2100743498 PLOD1 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS2100754171 PLOD1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS2100756997 PLOD1 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS2100758252 PLOD1 Health Risk Pathogenic Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS2100758555 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2100759240 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2100759432 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Inborn genetic diseases
RS2100759667 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2100760068 PLOD1 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS2100760610 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2100761028 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS2100764790 PLOD1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS2100765525 MTOR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2100768023 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2100768428 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2100768436 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2100768726 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2100768788 ATP13A2 Health Risk Pathogenic Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS2100768875 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2100768945 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2100772715 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2100778885 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2100779184 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2100779270 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2100779419 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2100779875 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 2
RS2100779888 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2100782122 MTOR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2100783138 ATP13A2 Health Risk Likely pathogenic Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS2100785804 ATP13A2 Health Risk Likely pathogenic Autosomal recessive spastic paraplegia type 78, Autosomal recessive spastic paraplegia type 78
RS2100788198 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2100788460 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2100788592 AGL Health Risk Likely pathogenic —
RS2100789569 SKI Health Risk Likely pathogenic Shprintzen-Goldberg syndrome, Shprintzen-Goldberg syndrome
RS2100790073 SKI Health Risk Likely pathogenic Shprintzen-Goldberg syndrome, Shprintzen-Goldberg syndrome
RS2100790188 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2100791272 SKI Health Risk Pathogenic —
RS2100797119 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2100797134 DBT Health Risk Pathogenic Maple syrup urine disease type 2, Maple syrup urine disease
RS2100799417 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2100799447 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2100802936 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS2100804114 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2100804340 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2100804954 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS2100805193 RPE65 Health Risk Pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS2100805351 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Leber congenital amaurosis 2
RS2100806802 RPE65 Health Risk Likely pathogenic RPE65-related recessive retinopathy, RPE65-related recessive retinopathy
RS2100806806 RPE65 Health Risk Pathogenic Retinitis pigmentosa 20, Retinitis pigmentosa 20
RS2100806889 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS2100807036 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS2100807345 RPE65 Health Risk Likely pathogenic —
RS2100812695 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2100816844 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS2100817031 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS2100817106 ATP13A2 Health Risk Pathogenic Kufor-Rakeb syndrome, Kufor-Rakeb syndrome
RS2100817136 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS2100817917 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2100818312 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2100818414 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2100818444 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS2100818575 RPE65 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS2100818777 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, RPE65-related recessive retinopathy
RS2100819151 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Leber congenital amaurosis 2
RS2100819190 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS2100819197 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS2100819756 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Leber congenital amaurosis 2
RS2100821707 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS2100821857 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS2100821898 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS2100821984 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS2100822209 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2100822486 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2
RS2100822581 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2100825216 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2100825988 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2100827350 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2100827593 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2100827985 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS2100827990 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS2100828545 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS2100831413 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, RPE65-related recessive retinopathy
RS2100831816 MFN2 Health Risk Likely pathogenic Tip-toe gait, Tip-toe gait
RS2100831900 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2100831955 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2100834154 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Leber congenital amaurosis 2
RS2100834784 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2100840815 PIK3CD Health Risk Pathogenic Immunodeficiency 14, Immunodeficiency 14
RS2100841026 MFN2 Health Risk Pathogenic Severe early-onset axonal neuropathy due to MFN2 deficiency, Severe early-onset axonal neuropathy due to MFN2 deficiency
« Prev 1 ... 1626 1627 1628 1629 1630 1631 1632 ... 4509 Next »

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

Get Started Free →