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
RS2532446276 CTNNA1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2532446561 CTNNA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2532446810 CTNNA1 Health Risk Likely pathogenic Patterned macular dystrophy 2, Patterned macular dystrophy 2
RS2532447804 CTNNA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2532447844 CTNNA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS2532447916 CTNNA1 Health Risk Pathogenic —
RS2532448044 CTNNA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2532452677 DMD Health Risk Pathogenic/Likely pathogenic —
RS2532453077 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2532455371 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2532455487 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2532455962 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2532456803 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2532456896 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2532456946 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2532464085 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2532465562 POLH Health Risk Pathogenic —
RS2532467695 DOCK2 Health Risk Likely pathogenic DOCK2 deficiency, DOCK2 deficiency
RS2532468284 MAK Health Risk Pathogenic —
RS2532469003 MAK Health Risk Pathogenic —
RS2532469053 MAK Health Risk Pathogenic —
RS2532470049 POLH Health Risk Pathogenic —
RS2532473543 POLH Health Risk Pathogenic —
RS2532473884 PPP2R5D Health Risk Likely pathogenic Hogue-Janssens syndrome 1, Hogue-Janssens syndrome 1
RS2532474939 DCDC2 Health Risk Likely pathogenic Isolated neonatal sclerosing cholangitis, Isolated neonatal sclerosing cholangitis
RS2532475447 PPP2R5D Health Risk Likely pathogenic Hogue-Janssens syndrome 1, Hogue-Janssens syndrome 1
RS2532475494 PPP2R5D Health Risk Pathogenic/Likely pathogenic Hogue-Janssens syndrome 1, Hogue-Janssens syndrome 1
RS2532476482 PPP2R5D Health Risk Likely pathogenic Hogue-Janssens syndrome 1, Hogue-Janssens syndrome 1
RS2532480977 CYFIP2 Health Risk Conflicting classifications of pathogenicity —
RS2532482776 MAK Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2532482884 MAK Health Risk Pathogenic —
RS2532484915 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2532485134 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2532485310 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2532485481 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2532485835 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2532486280 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2532486613 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2532486689 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2532487218 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2532487637 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2532487986 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2532488226 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2532489229 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2532489576 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2532489689 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2532489726 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2532490041 DOCK2 Health Risk Likely pathogenic DOCK2 deficiency, DOCK2 deficiency
RS2532490085 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2532490596 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2532490808 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2532490836 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2532490930 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2532491103 APC Health Risk Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2532500232 TTN Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2532502120 ADGRV1 Health Risk Pathogenic —
RS2532502764 POLH Health Risk Pathogenic —
RS2532506251 TTN Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2532509972 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2532510791 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2532514925 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2532517387 TCOF1 Health Risk Likely pathogenic —
RS2532517390 B4GALT7 Health Risk Likely pathogenic Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome progeroid type
RS2532519909 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2532520874 TCOF1 Health Risk Likely pathogenic TCOF1-related disorder, TCOF1-related disorder
RS2532521575 TCOF1 Health Risk Likely pathogenic TCOF1-related disorder, TCOF1-related disorder
RS2532522215 POLH Health Risk Pathogenic —
RS2532522791 DOCK2 Health Risk Likely pathogenic DOCK2 deficiency, DOCK2 deficiency
RS2532525678 IFT122 Health Risk Pathogenic Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS2532526425 B4GALT7 Health Risk Likely pathogenic Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome progeroid type
RS2532534868 B4GALT7 Health Risk Likely pathogenic Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome progeroid type
RS2532538096 PCDH12 Health Risk Pathogenic —
RS2532541414 ADGRV1 Health Risk Pathogenic —
RS2532541835 ADGRV1 Health Risk Pathogenic —
RS2532543260 ADGRV1 Health Risk Pathogenic —
RS2532547259 HNRNPH1 Health Risk Pathogenic Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
RS2532551587 PCDH12 Health Risk Pathogenic —
RS2532553492 GABRG2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Febrile seizures
RS2532553576 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS2532553590 GABRG2 Health Risk Pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS2532554705 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2532556080 PCDH12 Health Risk Likely pathogenic Diencephalic-mesencephalic junction dysplasia syndrome 1, Diencephalic-mesencephalic junction dysplasia syndrome 1
RS2532557970 CACNA1C Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2532559070 PCDH12 Health Risk Pathogenic —
RS2532559338 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2532559727 PCDH12 Health Risk Pathogenic —
RS2532559746 GABRG2 Health Risk Pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS2532559907 GABRG2 Health Risk Pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS2532560930 DOCK2 Health Risk Likely pathogenic DOCK2 deficiency, DOCK2 deficiency
RS2532562145 ADGRV1 Health Risk Pathogenic —
RS2532563501 ADGRV1 Health Risk Pathogenic —
RS2532568679 GABRG2 Health Risk Pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS2532568719 GABRG2 Health Risk Likely pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS2532568752 GABRG2 Health Risk Pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS2532569089 GABRG2 Health Risk Pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS2532569554 GABRG2 Health Risk Likely pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS2532575070 AFF4 Health Risk Pathogenic/Likely pathogenic Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome, Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
RS2532578504 MAK Health Risk Pathogenic —
RS2532581601 GABRG2 Health Risk Likely pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS2532582067 GABRG2 Health Risk Likely pathogenic Febrile seizures, familial
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