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
RS1554069808 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554069828 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS1554069831 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1554069850 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1554070317 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS1554070777 TRIO Health Risk Pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
RS1554071494 APC Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1554071521 APC Health Risk Pathogenic Carcinoma of colon, Familial adenomatous polyposis 1
RS1554071529 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1554071555 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1554071590 APC Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS1554071602 APC Health Risk Pathogenic Familial multiple polyposis syndrome, Hereditary cancer-predisposing syndrome
RS1554071607 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554071617 APC Health Risk Likely pathogenic Familial adenomatous polyposis 1, Inherited polyposis and early onset colorectal cancer - germline testing
RS1554071622 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1554072027 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1554072543 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1554072547 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1554072560 APC Health Risk Pathogenic Familial multiple polyposis syndrome, Familial multiple polyposis syndrome
RS1554072562 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1554072616 APC Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS1554072688 ADGRV1 Health Risk Pathogenic —
RS1554072713 ERCC8 Health Risk Likely pathogenic Cockayne syndrome type 1, Cockayne syndrome type 1
RS1554073117 ERCC8 Health Risk Likely pathogenic Cockayne syndrome type 1, Cockayne syndrome type 1
RS1554073175 ERCC8 Health Risk Pathogenic Cockayne syndrome type 1, Cockayne syndrome type 1
RS1554073177 ERCC8 Health Risk Pathogenic Cockayne syndrome type 1, Cockayne syndrome type 1
RS1554073309 ERCC8 Health Risk Likely pathogenic —
RS1554073311 ERCC8 Health Risk Likely pathogenic —
RS1554073316 ERCC8 Health Risk Pathogenic Cockayne syndrome type 1, Sarcoma
RS1554073420 ERCC8 Health Risk Likely pathogenic Cockayne syndrome type 1, Cockayne syndrome type 1
RS1554074118 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554074124 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554074132 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554074135 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554074565 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1554074581 ERCC8 Health Risk Pathogenic —
RS1554074597 ERCC8 Health Risk Likely pathogenic Cockayne syndrome type 1, Cockayne syndrome type 1
RS1554074665 NR2F1 Health Risk Conflicting classifications of pathogenicity Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS1554074673 NR2F1 Health Risk Pathogenic —
RS1554074677 NR2F1 Health Risk Pathogenic/Likely pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS1554074682 NR2F1 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS1554074684 NR2F1 Health Risk Likely pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome, Inborn genetic diseases
RS1554074731 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1554074738 APC Health Risk Pathogenic Familial multiple polyposis syndrome, Hereditary cancer-predisposing syndrome
RS1554074759 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1554074762 APC Health Risk Pathogenic —
RS1554074772 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1554074786 APC Health Risk Pathogenic Carcinoma of colon, Hereditary cancer-predisposing syndrome
RS1554074793 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1554074811 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1554074850 NR2F1 Health Risk Likely pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS1554075105 NR2F1 Health Risk Likely pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS1554075284 NEK1 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS1554075300 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS1554075372 FBN2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FBN2-related disorder
RS1554075506 NEK1 Health Risk Pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS1554076133 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1554076216 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554076217 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1554076225 APC Health Risk Pathogenic/Likely pathogenic Carcinoma of colon, Hereditary cancer-predisposing syndrome
RS1554076230 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS1554076239 ERCC8 Health Risk Likely pathogenic Cockayne syndrome type 1, Cockayne syndrome type 1
RS1554076306 NDUFAF2 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 10
RS1554076309 NDUFAF2 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 10
RS1554076318 NDUFAF2 Health Risk Likely pathogenic —
RS1554076324 NDUFAF2 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 10
RS1554077988 TCOF1 Health Risk Pathogenic —
RS1554078349 CHD1 Health Risk Pathogenic Pilarowski-Bjornsson syndrome, Pilarowski-Bjornsson syndrome
RS1554078461 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1554078856 CHD1 Health Risk Pathogenic Pilarowski-Bjornsson syndrome, Pilarowski-Bjornsson syndrome
RS1554079128 APC Health Risk Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1554079265 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554079268 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554079284 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554079296 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554079302 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554079311 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554079312 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554079318 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554079320 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554079333 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554079988 APC Health Risk Pathogenic Familial multiple polyposis syndrome, Familial multiple polyposis syndrome
RS1554079996 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1554080006 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1554080016 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1554080036 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1554080070 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1554080082 APC Health Risk Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1554080089 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554080106 APC Health Risk Pathogenic Familial adenomatous polyposis 1, APC-Associated Polyposis Disorders
RS1554080162 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1554080188 CPLANE1 Health Risk Likely pathogenic —
RS1554080460 TCOF1 Health Risk Pathogenic —
RS1554080589 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1554080688 APC Health Risk Pathogenic —
RS1554080695 APC Health Risk Pathogenic —
RS1554080698 APC Health Risk Pathogenic Carcinoma of colon, Hereditary cancer-predisposing syndrome
RS1554080702 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1554080710 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1554080716 APC Health Risk Likely pathogenic —
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