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
RS2493290372 COL17A1 Health Risk Pathogenic —
RS2493292629 COL17A1 Health Risk Likely pathogenic —
RS2493292694 COL17A1 Health Risk Pathogenic —
RS2493293194 COL17A1 Health Risk Pathogenic —
RS2493294655 COL17A1 Health Risk Pathogenic Amelogenesis imperfecta type 1A, Amelogenesis imperfecta type 1A
RS2493294749 COL17A1 Health Risk Likely pathogenic Epithelial recurrent erosion dystrophy, Epithelial recurrent erosion dystrophy
RS2493296322 COL17A1 Health Risk Likely pathogenic —
RS2493298308 COL17A1 Health Risk Likely pathogenic —
RS2493298472 COL17A1 Health Risk Pathogenic —
RS2493300850 COL17A1 Health Risk Likely pathogenic Epidermolysis bullosa, junctional 4
RS2493301375 COL17A1 Health Risk Likely pathogenic —
RS2493306888 COL17A1 Health Risk Pathogenic —
RS2493307013 COL17A1 Health Risk Pathogenic —
RS2493307221 COL17A1 Health Risk Pathogenic —
RS2493307366 COL17A1 Health Risk Likely pathogenic Amelogenesis imperfecta type 1A, Amelogenesis imperfecta type 1A
RS2493308471 COL17A1 Health Risk Likely pathogenic —
RS2493312925 COL17A1 Health Risk Likely pathogenic Epithelial recurrent erosion dystrophy, Epidermolysis bullosa
RS2493318777 COL17A1 Health Risk Likely pathogenic —
RS2493318808 COL17A1 Health Risk Pathogenic —
RS2493326161 COL17A1 Health Risk Pathogenic —
RS2493327043 COL17A1 Health Risk Likely pathogenic —
RS2493327107 COL17A1 Health Risk Likely pathogenic COL17A1-related disorder, COL17A1-related disorder
RS2493333188 COL17A1 Health Risk Likely pathogenic Amelogenesis imperfecta type 1A, Amelogenesis imperfecta type 1A
RS2493335169 COL17A1 Health Risk Pathogenic —
RS2493336185 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2493336259 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2493336379 PCDH15 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2493336930 PCDH15 Health Risk Pathogenic —
RS2493337844 ASCC1 Health Risk Likely pathogenic ASCC1-related disorder, ASCC1-related disorder
RS2493338396 PCDH15 Health Risk Pathogenic —
RS2493339279 COL17A1 Health Risk Pathogenic Amelogenesis imperfecta, Amelogenesis imperfecta
RS2493340659 COL17A1 Health Risk Pathogenic —
RS2493355998 COL17A1 Health Risk Pathogenic —
RS2493359669 ANK3 Health Risk Likely pathogenic —
RS2493360895 COL17A1 Health Risk Pathogenic —
RS2493361251 SLF2 Health Risk Pathogenic Atelis syndrome 1, Atelis syndrome 1
RS2493362837 COL17A1 Health Risk Likely pathogenic —
RS2493375084 COL17A1 Health Risk Likely pathogenic —
RS2493375263 COL17A1 Health Risk Pathogenic Amelogenesis imperfecta type 1A, Amelogenesis imperfecta type 1A
RS2493375635 COL17A1 Health Risk Likely pathogenic Junctional epidermolysis bullosa, non-Herlitz type
RS2493375701 CNNM2 Health Risk Likely pathogenic —
RS2493375718 CNNM2 Health Risk Likely pathogenic Hypomagnesemia, seizures
RS2493375756 CNNM2 Health Risk Likely pathogenic Renal hypomagnesemia 6, Renal hypomagnesemia 6
RS2493376631 CNNM2 Health Risk Pathogenic Renal hypomagnesemia 6, Renal hypomagnesemia 6
RS2493376669 CNNM2 Health Risk Pathogenic Renal hypomagnesemia 6, Renal hypomagnesemia 6
RS2493377590 CNNM2 Health Risk Pathogenic —
RS2493381641 COL17A1 Health Risk Pathogenic —
RS2493386649 SLF2 Health Risk Pathogenic Atelis syndrome 1, Atelis syndrome 1
RS2493387507 COL17A1 Health Risk Pathogenic —
RS2493391411 WDR11 Health Risk Likely pathogenic —
RS2493395710 COL17A1 Health Risk Likely pathogenic —
RS2493395783 COL17A1 Health Risk Pathogenic —
RS2493409912 RBM20 Health Risk Likely pathogenic Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS2493410173 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS2493410346 RBM20 Health Risk Pathogenic Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS2493412604 RBM20 Health Risk Pathogenic Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS2493412774 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS2493412820 RBM20 Health Risk Likely pathogenic Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS2493413225 RBM20 Health Risk Pathogenic Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS2493413630 CPN1 Health Risk Pathogenic Anaphylotoxin inactivator deficiency, Anaphylotoxin inactivator deficiency
RS2493417684 RBM20 Health Risk Pathogenic Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS2493419778 SLF2 Health Risk Pathogenic Atelis syndrome 1, Atelis syndrome 1
RS2493421291 RBM20 Health Risk Pathogenic Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS2493422751 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS2493422939 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS2493443432 VAX1 Health Risk Likely pathogenic Microphthalmia, Microphthalmia
RS2493449411 RBM20 Health Risk Pathogenic Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS2493463036 CDH23 Health Risk Pathogenic —
RS2493463533 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2493464596 CDH23 Health Risk Likely pathogenic —
RS2493472668 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS2493472844 RBM20 Health Risk Pathogenic Cardiomyopathy, Cardiomyopathy
RS2493473672 RBM20 Health Risk Pathogenic Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS2493473776 RBM20 Health Risk Pathogenic Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS2493475607 RBM20 Health Risk Pathogenic Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS2493481426 NKX6-2 Health Risk Likely pathogenic Spastic ataxia 8, autosomal recessive
RS2493481557 NKX6-2 Health Risk Likely pathogenic —
RS2493481752 PRF1 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS2493481876 PRF1 Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS2493482240 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS2493482339 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS2493482360 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS2493482370 PRF1 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia
RS2493482475 PRF1 Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS2493482798 PRF1 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS2493482848 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia
RS2493482963 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS2493483138 PRF1 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis, Familial hemophagocytic lymphohistiocytosis
RS2493483298 PRF1 Health Risk Conflicting classifications of pathogenicity Aplastic anemia, Familial hemophagocytic lymphohistiocytosis 2
RS2493483315 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS2493483759 PRF1 Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS2493484050 PRF1 Health Risk Pathogenic Aplastic anemia, Familial hemophagocytic lymphohistiocytosis
RS2493484211 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS2493484253 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS2493484321 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS2493484435 PRF1 Health Risk Pathogenic/Likely pathogenic Aplastic anemia, Familial hemophagocytic lymphohistiocytosis 2
RS2493484953 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS2493485105 PRF1 Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS2493485118 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2493485428 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
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