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
RS2530712355 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2530712392 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2530712461 SKIC3 Health Risk Pathogenic —
RS2530712591 SKIC3 Health Risk Likely pathogenic —
RS2530712625 SKIC3 Health Risk Pathogenic —
RS2530712831 MSH6 Health Risk Likely pathogenic Endometrial carcinoma, Endometrial carcinoma
RS2530714296 MSH6 Health Risk Pathogenic Lynch syndrome 5, Hereditary cancer-predisposing syndrome
RS2530714386 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530714528 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530715290 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2530715473 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS2530715525 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2530715713 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530715792 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530716119 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530717054 MBD4 Health Risk Pathogenic —
RS2530717059 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530717080 MSH6 Health Risk Likely pathogenic Endometrial carcinoma, Endometrial carcinoma
RS2530717576 MBD4 Health Risk Pathogenic —
RS2530717673 SKIC3 Health Risk Pathogenic/Likely pathogenic Trichohepatoenteric syndrome, Trichohepatoenteric syndrome
RS2530717725 SKIC3 Health Risk Pathogenic —
RS2530717734 SKIC3 Health Risk Pathogenic —
RS2530718128 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2530718398 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530719210 MBD4 Health Risk Pathogenic —
RS2530719238 FAT4 Health Risk Pathogenic —
RS2530719359 SKIC3 Health Risk Pathogenic —
RS2530720118 SKIC3 Health Risk Pathogenic —
RS2530720286 ADGRV1 Health Risk Pathogenic —
RS2530721015 TTN Health Risk Likely pathogenic —
RS2530722871 MBD4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2530723770 MCCC2 Health Risk Likely pathogenic Methylcrotonyl-CoA carboxylase deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS2530723915 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2530727228 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS2530727286 MBD4 Health Risk Pathogenic —
RS2530727382 SKIC3 Health Risk Likely pathogenic Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1
RS2530733439 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS2530733573 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2530733729 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2530733986 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2530735191 SKIC3 Health Risk Likely pathogenic Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1
RS2530736180 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2530739865 SKIC3 Health Risk Pathogenic —
RS2530740239 MCCC2 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2530740266 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2530740477 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2530740954 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2530742160 GHR Health Risk Pathogenic —
RS2530742503 GHR Health Risk Pathogenic Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect
RS2530742546 GHR Health Risk Pathogenic —
RS2530746798 SKIC3 Health Risk Likely pathogenic Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1
RS2530753217 SKIC3 Health Risk Likely pathogenic —
RS2530754055 GRIA2 Health Risk Pathogenic Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities
RS2530754438 GRIA2 Health Risk Likely pathogenic Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities
RS2530754837 SCLT1 Health Risk Likely pathogenic —
RS2530755469 SKIC3 Health Risk Pathogenic —
RS2530755757 SKIC3 Health Risk Pathogenic Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1
RS2530755774 SKIC3 Health Risk Pathogenic —
RS2530755777 SCLT1 Health Risk Pathogenic —
RS2530755942 SKIC3 Health Risk Likely pathogenic —
RS2530757487 MSH6 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS2530757586 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530757717 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2530757945 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530758349 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530758402 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS2530758570 MSH6 Health Risk Pathogenic/Likely pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530759189 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530760292 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530760406 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2530760528 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530760712 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530762171 SKIC3 Health Risk Likely pathogenic Trichohepatoenteric syndrome, Trichohepatoenteric syndrome
RS2530762349 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2530762448 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530763417 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530763664 MSH6 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2530763870 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS2530764023 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530764375 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530764969 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530765094 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530765178 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530765408 SKIC3 Health Risk Pathogenic —
RS2530765432 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530766247 FGB Health Risk Likely pathogenic FGB-related disorder, FGB-related disorder
RS2530766507 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530766606 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS2530766683 MSH6 Health Risk Pathogenic Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms
RS2530767010 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530767100 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530767576 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530767942 SKIC3 Health Risk Pathogenic —
RS2530768791 MSH6 Health Risk Pathogenic Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms
RS2530769210 SKIC3 Health Risk Pathogenic —
RS2530770310 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530770680 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS2530771488 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome
RS2530772542 SKIC3 Health Risk Likely pathogenic —
RS2530772699 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
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