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
RS1553266052 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1553266098 LMNA Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1553266166 SNX27 Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1553266260 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1553266337 LMNA Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS1553266433 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1553266474 SDHC Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS1553266537 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1553266671 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1553266871 LAMC2 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS1553267007 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1553267060 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1553267345 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1553267356 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1553267499 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1553267554 LAMC2 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Epidermolysis bullosa
RS1553267638 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1553267679 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1553267870 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1553267882 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1553267885 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1553268427 USH2A Health Risk Conflicting classifications of pathogenicity —
RS1553268434 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553268435 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553268562 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553268563 USH2A Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Usher syndrome type 2A
RS1553268582 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553268594 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553268799 PSEN2 Health Risk Likely pathogenic Alzheimer disease 4, Alzheimer disease 4
RS1553270468 ZBTB18 Health Risk Likely pathogenic —
RS1553270470 ZBTB18 Health Risk Pathogenic ZBTB18-related disorder, ZBTB18-related disorder
RS1553270522 ZBTB18 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553270599 ZBTB18 Health Risk Likely pathogenic Marfanoid habitus and intellectual disability, Intellectual disability
RS1553270611 ZBTB18 Health Risk Pathogenic —
RS1553270631 ZBTB18 Health Risk Likely pathogenic —
RS1553270634 ZBTB18 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 22
RS1553270640 ZBTB18 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 22
RS1553270954 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553270960 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553271001 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553271002 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553271837 EDARADD Health Risk Likely pathogenic —
RS1553272035 USH2A Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 39
RS1553272176 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553272201 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553272873 CAMTA1 Health Risk Likely pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities
RS1553273280 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 39
RS1553273330 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553273412 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553273421 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553273525 RAB3GAP2 Health Risk Likely pathogenic —
RS1553273733 CFH Health Risk Pathogenic Hemolytic uremic syndrome, atypical
RS1553274382 RAB3GAP2 Health Risk Pathogenic —
RS1553274424 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553274435 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553274448 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553274531 USH2A Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1553275034 LAMB3 Health Risk Likely pathogenic Amelogenesis imperfecta type 1A, Amelogenesis imperfecta type 1A
RS1553275070 LAMB3 Health Risk Likely pathogenic Amelogenesis imperfecta type 1A, Junctional epidermolysis bullosa gravis of Herlitz
RS1553275192 PKP1 Health Risk Likely pathogenic Epidermolysis bullosa simplex due to plakophilin deficiency, Epidermolysis bullosa simplex due to plakophilin deficiency
RS1553275195 LAMB3 Health Risk Pathogenic Amelogenesis imperfecta type 1A, Amelogenesis imperfecta type 1A
RS1553275219 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1553275644 RAB3GAP2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553275687 RAB3GAP2 Health Risk Pathogenic Warburg micro syndrome 2, Warburg micro syndrome 2
RS1553276110 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1553276216 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1553276268 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1553276430 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1553276474 COQ8A Health Risk Likely pathogenic —
RS1553276488 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1553276966 COQ8A Health Risk Likely pathogenic —
RS1553277072 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS1553277267 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1553277432 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1553277483 CDC73 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553277591 PLXNA2 Health Risk Likely pathogenic atypical cerebral palsy, atypical cerebral palsy
RS1553277686 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1553277702 LAMB3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS1553277866 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553278569 RAB3GAP2 Health Risk Pathogenic Warburg micro syndrome 2, Warburg micro syndrome 2
RS1553278841 CDC73 Health Risk Pathogenic —
RS1553278844 CDC73 Health Risk Pathogenic/Likely pathogenic Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS1553279044 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1553279073 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1553279085 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS1553279088 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS1553279294 TNNT2 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1553280067 CAMTA1 Health Risk Pathogenic/Likely pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities
RS1553280621 COQ8A Health Risk Pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS1553281291 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1553281318 COQ8A Health Risk Pathogenic 7 conditions, Autosomal recessive ataxia due to ubiquinone deficiency
RS1553281319 TNNT2 Health Risk Likely pathogenic —
RS1553281335 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa, non-Herlitz type
RS1553281890 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553281924 HNRNPU Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 54
RS1553282089 HNRNPU Health Risk Likely pathogenic —
RS1553282235 HNRNPU Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553282372 HNRNPU Health Risk Likely pathogenic —
RS1553282385 HNRNPU Health Risk Pathogenic —
RS1553282390 HNRNPU Health Risk Pathogenic —
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