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
RS2493126414 SMC3 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS2493126445 SMC3 Health Risk Likely pathogenic Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS2493127561 SMC3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2493128583 SMC3 Health Risk Likely pathogenic SMC3-related disorder, SMC3-related disorder
RS2493131897 SMC3 Health Risk Pathogenic Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS2493138145 SMC3 Health Risk Likely pathogenic —
RS2493141408 CWF19L1 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17
RS2493143956 SMC3 Health Risk Likely pathogenic Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS2493144025 SMC3 Health Risk Likely pathogenic Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS2493145293 SMC3 Health Risk Pathogenic Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS2493146503 SMC3 Health Risk Likely pathogenic Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS2493149679 PAX2 Health Risk Pathogenic PAX2-related disorder, PAX2-related disorder
RS2493149914 SMC3 Health Risk Pathogenic —
RS2493149922 PAX2 Health Risk Pathogenic Focal segmental glomerulosclerosis 7, Renal coloboma syndrome
RS2493149927 SMC3 Health Risk Likely pathogenic —
RS2493150282 PAX2 Health Risk Pathogenic Renal coloboma syndrome, Focal segmental glomerulosclerosis 7
RS2493152435 SMC3 Health Risk Likely pathogenic Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS2493163498 PAX2 Health Risk Likely pathogenic Renal coloboma syndrome, Renal coloboma syndrome
RS2493164063 PAX2 Health Risk Likely pathogenic Renal coloboma syndrome, Renal coloboma syndrome
RS2493164118 CTNNA3 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13
RS2493175179 PCDH15 Health Risk Pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2493175361 PCDH15 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2493176179 PCDH15 Health Risk Pathogenic —
RS2493176302 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2493176566 PCDH15 Health Risk Pathogenic —
RS2493177626 PCDH15 Health Risk Pathogenic —
RS2493183249 BLNK Health Risk Pathogenic Agammaglobulinemia 4, autosomal recessive
RS2493186313 PAX5 Health Risk Likely pathogenic Acute lymphoid leukemia, Acute lymphoid leukemia
RS2493189342 POLR3A Health Risk Likely pathogenic —
RS2493189700 CDH23 Health Risk Pathogenic —
RS2493190530 POLR3A Health Risk Likely pathogenic —
RS2493192910 RBM20 Health Risk Pathogenic Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS2493195989 CDH23 Health Risk Pathogenic —
RS2493197193 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2493197439 CDH23 Health Risk Pathogenic —
RS2493202396 SLK Health Risk Likely pathogenic —
RS2493206400 POLR3A Health Risk Likely pathogenic Leukodystrophy, hypomyelinating
RS2493206502 POLR3A Health Risk Pathogenic —
RS2493207946 POLR3A Health Risk Pathogenic —
RS2493207951 POLR3A Health Risk Likely pathogenic —
RS2493209430 POLR3A Health Risk Pathogenic —
RS2493209656 POLR3A Health Risk Likely pathogenic —
RS2493213156 POLR3A Health Risk Likely pathogenic POLR3A-related disorder, POLR3A-related disorder
RS2493220203 POLR3A Health Risk Pathogenic —
RS2493225918 POLR3A Health Risk Likely pathogenic —
RS2493227029 HELLS Health Risk Pathogenic —
RS2493231161 POLR3A Health Risk Pathogenic —
RS2493234030 CYP17A1 Health Risk Pathogenic —
RS2493234210 CYP17A1 Health Risk Pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS2493234387 CYP17A1 Health Risk Pathogenic —
RS2493234394 CYP17A1 Health Risk Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS2493235547 CYP17A1 Health Risk Pathogenic —
RS2493235632 CYP17A1 Health Risk Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS2493237790 CYP17A1 Health Risk Pathogenic —
RS2493237797 CYP17A1 Health Risk Pathogenic —
RS2493238640 CYP17A1 Health Risk Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS2493238663 CYP17A1 Health Risk Pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS2493238715 CYP17A1 Health Risk Likely pathogenic —
RS2493239019 CYP17A1 Health Risk Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS2493239061 CYP17A1 Health Risk Pathogenic —
RS2493239110 PAX2 Health Risk Likely pathogenic Renal coloboma syndrome, Renal coloboma syndrome
RS2493240521 CYP17A1 Health Risk Pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS2493240549 CYP17A1 Health Risk Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS2493241750 CYP17A1 Health Risk Likely pathogenic —
RS2493241771 CYP17A1 Health Risk Pathogenic —
RS2493241834 CYP17A1 Health Risk Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS2493241953 CYP17A1 Health Risk Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS2493242138 CYP17A1 Health Risk Pathogenic —
RS2493242253 CYP17A1 Health Risk Pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS2493242260 CYP17A1 Health Risk Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS2493242975 CYP17A1 Health Risk Likely pathogenic —
RS2493243005 CYP17A1 Health Risk Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS2493243211 CYP17A1 Health Risk Pathogenic —
RS2493243222 CYP17A1 Health Risk Pathogenic/Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS2493243250 CYP17A1 Health Risk Pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS2493243312 CYP17A1 Health Risk Pathogenic —
RS2493245552 CYP17A1 Health Risk Pathogenic —
RS2493245563 CYP17A1 Health Risk Pathogenic —
RS2493245623 CYP17A1 Health Risk Pathogenic/Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS2493245759 CYP17A1 Health Risk Pathogenic —
RS2493245827 CYP17A1 Health Risk Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS2493261927 DNMBP Health Risk Likely pathogenic Cataract 48, Cataract 48
RS2493269726 HELLS Health Risk Pathogenic —
RS2493271322 WDR11 Health Risk Pathogenic —
RS2493271796 HELLS Health Risk Pathogenic —
RS2493272751 COL17A1 Health Risk Pathogenic —
RS2493273125 COL17A1 Health Risk Pathogenic Epidermolysis bullosa, junctional 4
RS2493274026 RPS24 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2493277518 COL17A1 Health Risk Pathogenic COL17A1-related disorder, Epidermolysis bullosa
RS2493277968 COL17A1 Health Risk Likely pathogenic —
RS2493278296 COL17A1 Health Risk Pathogenic —
RS2493278474 COL17A1 Health Risk Pathogenic Amelogenesis imperfecta type 1A, Amelogenesis imperfecta type 1A
RS2493280297 HELLS Health Risk Pathogenic —
RS2493280473 RPS24 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2493281886 RPS24 Health Risk Likely pathogenic Diamond-Blackfan anemia 3, Diamond-Blackfan anemia 3
RS2493281976 RPS24 Health Risk Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2493286164 COL17A1 Health Risk Pathogenic —
RS2493287899 RPS24 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2493288385 COL17A1 Health Risk Pathogenic —
RS2493290370 COL17A1 Health Risk Pathogenic —
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