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
RS2527260044 NLRP3 Health Risk Pathogenic Cryopyrin associated periodic syndrome, Cryopyrin associated periodic syndrome
RS2527260934 ASPM Health Risk Pathogenic —
RS2527261243 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS2527268786 NLRP3 Health Risk Likely pathogenic —
RS2527269566 ASPM Health Risk Pathogenic —
RS2527270896 TNFRSF9 Health Risk Pathogenic —
RS2527270913 TNFRSF9 Health Risk Pathogenic —
RS2527272194 TNFRSF9 Health Risk Pathogenic —
RS2527274077 NLRP3 Health Risk Likely pathogenic Familial amyloid nephropathy with urticaria AND deafness, Familial amyloid nephropathy with urticaria AND deafness
RS2527280678 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS2527280793 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS2527280897 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS2527280954 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS2527281026 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS2527281261 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS2527281270 CDC73 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS2527281408 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS2527281416 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS2527281543 CDC73 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Parathyroid carcinoma
RS2527284830 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527285147 LYST Health Risk Pathogenic LYST-related disorder, LYST-related disorder
RS2527285195 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527285556 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527287298 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS2527288755 ASPM Health Risk Pathogenic —
RS2527289295 ASPM Health Risk Pathogenic —
RS2527289344 CDC73 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2527295379 ASPM Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2527295538 ASPM Health Risk Likely pathogenic Microcephaly 5, primary
RS2527295551 ASPM Health Risk Likely pathogenic Microcephaly 5, primary
RS2527295914 ASPM Health Risk Pathogenic —
RS2527296137 ASPM Health Risk Pathogenic —
RS2527298688 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS2527299440 ASPM Health Risk Pathogenic —
RS2527299680 LYST Health Risk Pathogenic/Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527299998 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS2527300997 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527301436 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527301480 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527303681 ASPM Health Risk Likely pathogenic Microcephaly 5, primary
RS2527304656 ASPM Health Risk Pathogenic —
RS2527305337 ASPM Health Risk Likely pathogenic Microcephaly 5, primary
RS2527306042 ASPM Health Risk Pathogenic —
RS2527307212 ASPM Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2527308315 FH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2527308382 FH Health Risk Likely pathogenic Fumarase deficiency, Fumarase deficiency
RS2527308386 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2527308398 FH Health Risk Pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary leiomyomatosis and renal cell cancer
RS2527308441 FH Health Risk Pathogenic —
RS2527308465 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2527308484 FH Health Risk Pathogenic —
RS2527308519 FH Health Risk Pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary leiomyomatosis and renal cell cancer
RS2527308607 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2527311881 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS2527312860 FH Health Risk Pathogenic —
RS2527313001 FH Health Risk Pathogenic —
RS2527313025 FH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2527313050 FH Health Risk Likely pathogenic Fumarase deficiency, Fumarase deficiency
RS2527313091 FH Health Risk Pathogenic —
RS2527313129 FH Health Risk Pathogenic —
RS2527313198 FH Health Risk Likely pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary leiomyomatosis and renal cell cancer
RS2527313228 FH Health Risk Pathogenic —
RS2527316352 CACNA1E Health Risk Likely pathogenic —
RS2527316484 FH Health Risk Conflicting classifications of pathogenicity Hereditary leiomyomatosis and renal cell cancer, Hereditary leiomyomatosis and renal cell cancer
RS2527316491 FH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2527316654 FH Health Risk Pathogenic —
RS2527316660 FH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2527316690 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2527316769 FH Health Risk Pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS2527317342 CDC73 Health Risk Conflicting classifications of pathogenicity Hyperparathyroidism 1, Parathyroid carcinoma
RS2527317468 CDC73 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2527319019 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2527319050 FH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2527319143 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2527319221 FH Health Risk Likely pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary leiomyomatosis and renal cell cancer
RS2527319345 FH Health Risk Pathogenic —
RS2527319402 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2527319424 FH Health Risk Pathogenic —
RS2527319443 FH Health Risk Pathogenic —
RS2527319645 FH Health Risk Likely pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary leiomyomatosis and renal cell cancer
RS2527319648 FH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2527319705 FH Health Risk Pathogenic —
RS2527319814 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS2527322667 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527322866 FH Health Risk Pathogenic/Likely pathogenic Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS2527323022 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2527323113 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2527323181 FH Health Risk Pathogenic —
RS2527324049 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527324275 CDC73 Health Risk Pathogenic Hyperparathyroidism 1, Hyperparathyroidism 1
RS2527324301 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS2527324463 CDC73 Health Risk Likely pathogenic Hyperparathyroidism 2 with jaw tumors, Hyperparathyroidism 2 with jaw tumors
RS2527324489 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527324515 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527324739 CDC73 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hyperparathyroidism 1
RS2527324879 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS2527327079 FH Health Risk Pathogenic —
RS2527327168 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2527327324 FH Health Risk Pathogenic —
RS2527327485 FH Health Risk Pathogenic —
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