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
RS1553645729 BAP1 Health Risk Pathogenic/Likely pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1553645785 BAP1 Health Risk Likely pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1553645806 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1553645809 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1553645838 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1553645935 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1553645950 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1553646022 BAP1;PHF7 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1553646029 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1553646045 BAP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1553646061 BAP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553646081 COL4A4 Health Risk Likely pathogenic —
RS1553646278 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1553646284 BAP1 Health Risk Pathogenic/Likely pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1553646294 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1553646295 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1553646367 BAP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1553646540 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553646602 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS1553646679 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553646681 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS1553646683 MLH1 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553646687 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553646764 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553647795 MLH1 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS1553647888 MLH1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1553647894 MLH1 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553647928 MLH1 Health Risk Pathogenic/Likely pathogenic Lynch syndrome, Lynch syndrome
RS1553647947 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553647969 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1553647989 PPARG Health Risk Likely pathogenic PPARG-related familial partial lipodystrophy, Neoplasm
RS1553647995 MLH1 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS1553648023 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553648029 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS1553648040 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1553648047 MLH1 Health Risk Pathogenic/Likely pathogenic Colorectal cancer, hereditary nonpolyposis
RS1553648058 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553648068 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Carcinoma of colon
RS1553648091 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS1553648104 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553648149 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553648195 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1553648201 MLH1 Health Risk Pathogenic/Likely pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553648220 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1553648225 MLH1 Health Risk Pathogenic/Likely pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553648246 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553648360 DAG1 Health Risk Likely pathogenic —
RS1553648488 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS1553648493 AGXT Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
RS1553648568 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS1553648931 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS1553648979 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS1553649007 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS1553649122 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553649171 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553649375 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS1553649843 NGLY1 Health Risk Likely pathogenic —
RS1553650442 TTN Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Dilated cardiomyopathy 1G
RS1553650466 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Muir-Torré syndrome
RS1553650477 PPARG Health Risk Pathogenic PPARG-related familial partial lipodystrophy, PPARG-related familial partial lipodystrophy
RS1553650621 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553650626 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553650741 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553651130 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1553651228 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1553651299 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1553651362 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553651429 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS1553651457 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1553652080 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS1553652151 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS1553652171 BTD Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS1553652177 BTD Health Risk Likely pathogenic —
RS1553652503 DAG1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS1553652513 DAG1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS1553652562 DAG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS1553652751 DAG1 Health Risk Likely pathogenic —
RS1553652883 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1553652886 ATP2B2 Health Risk Pathogenic/Likely pathogenic —
RS1553652930 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1553653037 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553653053 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS1553653062 BTD Health Risk Pathogenic/Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS1553653070 BTD Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS1553653084 MLH1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1553653115 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS1553653135 MLH1 Health Risk Likely pathogenic —
RS1553653158 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Gastric cancer
RS1553653195 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553653237 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1553653579 DAG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS1553653673 DAG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS1553653680 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS1553653732 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS1553653888 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS1553653948 DAG1 Health Risk Likely pathogenic —
RS1553653993 PPARG Health Risk Likely pathogenic PPARG-related familial partial lipodystrophy, PPARG-related familial partial lipodystrophy
RS1553654142 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS1553654145 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS1553654178 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
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