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
RS2471358764 BAP1 Health Risk Pathogenic —
RS2471358847 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2471363712 PDHB Health Risk Likely pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS2471363855 PDHB Health Risk Likely pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS2471363904 PDHB Health Risk Pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS2471363943 BAP1 Health Risk Likely pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2471364013 BAP1 Health Risk Pathogenic/Likely pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2471364423 BAP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471365738 PDHB Health Risk Pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS2471365846 BAP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471365895 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2471366048 BAP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471366155 BAP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471366690 PDHB Health Risk Likely pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS2471366728 PDHB Health Risk Pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS2471367604 PDHB Health Risk Pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS2471367665 PDHB Health Risk Pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS2471367755 PDHB Health Risk Pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS2471367783 PDHB Health Risk Likely pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS2471367816 BAP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS2471367863 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2471368092 PDHB Health Risk Likely pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS2471370449 PDHB Health Risk Likely pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS2471374147 GLB1 Health Risk Likely pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
RS2471374158 PDHB Health Risk Likely pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS2471374173 GLB1 Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-B
RS2471374263 GLB1 Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-B
RS2471374605 PDHB Health Risk Pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS2471375071 GLB1 Health Risk Likely pathogenic Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3
RS2471375093 GLB1 Health Risk Pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
RS2471375122 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2471375206 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS2471378577 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2471380476 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS2471397419 GLB1 Health Risk Pathogenic GM1 gangliosidosis, GM1 gangliosidosis
RS2471397544 GLB1 Health Risk Pathogenic/Likely pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
RS2471397756 GLB1 Health Risk Pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
RS2471398259 GLB1 Health Risk Pathogenic Infantile GM1 gangliosidosis, Mucopolysaccharidosis
RS2471398274 GLB1 Health Risk Pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
RS2471401026 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2471401192 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS2471401478 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2471401877 TRIP12 Health Risk Pathogenic Clark-Baraitser syndrome, Clark-Baraitser syndrome
RS2471403950 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2471404660 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2471406220 TTN Health Risk Pathogenic —
RS2471414967 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2471417565 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2471418730 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2471419930 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2471424350 GLB1 Health Risk Pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
RS2471424354 GLB1 Health Risk Pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
RS2471424489 GLB1 Health Risk Likely pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
RS2471424609 GLB1 Health Risk Likely pathogenic Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3
RS2471424667 GLB1 Health Risk Likely pathogenic Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3
RS2471424690 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS2471425024 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471425819 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471425990 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2471427095 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471427303 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2471427666 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471428169 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471428328 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471428511 MLH1 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2471428751 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471429309 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471429433 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2471429550 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome
RS2471429739 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471430111 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471430153 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471430754 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471432920 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471433553 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471433796 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471434062 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471434395 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2471434551 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471434803 MLH1 Health Risk Pathogenic/Likely pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471434909 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471434953 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471435256 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471435392 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471435989 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471436021 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471436083 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471436124 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471436783 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471436948 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2471437272 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471437508 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471437568 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471437677 MLH1 Health Risk Likely pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471437813 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS2471437953 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471438307 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2471438507 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2471439040 BTD Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS2471439426 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
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