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
RS2530773035 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530773151 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530774036 SKIC3 Health Risk Pathogenic —
RS2530774225 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530774334 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2530774521 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530774697 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530775143 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530775606 GRIA2 Health Risk Likely pathogenic Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities
RS2530775655 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530775670 GRIA2 Health Risk Likely pathogenic Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities
RS2530775821 GRIA2 Health Risk Likely pathogenic Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities
RS2530775972 FGB Health Risk Likely pathogenic Familial dysfibrinogenemia, FGB-related disorder
RS2530775982 FBXW7 Health Risk Likely pathogenic Developmental delay, hypotonia
RS2530777027 MSH6 Health Risk Likely pathogenic Lynch syndrome, Lynch syndrome
RS2530777063 MSH6 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2530777857 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS2530779091 SKIC3 Health Risk Likely pathogenic —
RS2530783457 GHR Health Risk Likely pathogenic Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect
RS2530787207 FGB Health Risk Likely pathogenic —
RS2530788030 FAT4 Health Risk Likely pathogenic —
RS2530796143 SKIC3 Health Risk Pathogenic —
RS2530796180 COL7A1 Health Risk Pathogenic —
RS2530796203 COL7A1 Health Risk Pathogenic —
RS2530796356 COL7A1 Health Risk Pathogenic —
RS2530796921 COL7A1 Health Risk Pathogenic —
RS2530796932 SKIC3 Health Risk Likely pathogenic —
RS2530796938 SKIC3 Health Risk Likely pathogenic —
RS2530798042 ADGRV1 Health Risk Pathogenic —
RS2530798190 ADGRV1 Health Risk Likely pathogenic —
RS2530799093 COL7A1 Health Risk Pathogenic —
RS2530799214 MSH6 Health Risk Likely pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530799433 COL7A1 Health Risk Pathogenic —
RS2530799547 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2530799925 COL7A1 Health Risk Pathogenic —
RS2530800342 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530800515 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530801195 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530801441 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS2530801524 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS2530801560 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530801642 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530802196 COL7A1 Health Risk Pathogenic —
RS2530802250 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530802328 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530802371 SKIC3 Health Risk Pathogenic —
RS2530802395 SKIC3 Health Risk Pathogenic —
RS2530802402 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2530802502 SKIC3 Health Risk Pathogenic —
RS2530802580 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530803426 MSH6 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2530803560 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2530803610 MSH6 Health Risk Likely pathogenic —
RS2530803668 AP3B1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS2530804002 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS2530804099 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2530804230 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530804347 SKIC3 Health Risk Likely pathogenic —
RS2530804417 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS2530804487 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Endometrial carcinoma
RS2530804564 MSH6 Health Risk Pathogenic Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms
RS2530804790 MSH6 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2530804830 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2530805064 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530805264 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530805365 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530805571 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530805811 MSH6 Health Risk Pathogenic —
RS2530806423 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530806721 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2530808441 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2530808483 MCCC2 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2530808635 MCCC2 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2530808704 MCCC2 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2530808873 SKIC3 Health Risk Pathogenic —
RS2530809001 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2530812413 AP3B1 Health Risk Pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS2530812497 AP3B1 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS2530813048 COL7A1 Health Risk Pathogenic —
RS2530813199 COL7A1 Health Risk Likely pathogenic —
RS2530815080 SKIC3 Health Risk Pathogenic —
RS2530815139 SKIC3 Health Risk Pathogenic —
RS2530815331 COL7A1 Health Risk Pathogenic —
RS2530815387 ADGRV1 Health Risk Likely pathogenic Usher syndrome type 2C, Usher syndrome type 2C
RS2530817264 COL7A1 Health Risk Likely pathogenic Lung cancer, Recessive dystrophic epidermolysis bullosa
RS2530817698 COL7A1 Health Risk Pathogenic —
RS2530818610 COL7A1 Health Risk Pathogenic —
RS2530819182 FGA Health Risk Likely pathogenic Familial dysfibrinogenemia, Familial dysfibrinogenemia
RS2530819504 FGA Health Risk Pathogenic —
RS2530820233 FGA Health Risk Pathogenic FGA-related disorder, FGA-related disorder
RS2530820313 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530820376 FGA Health Risk Likely pathogenic Familial dysfibrinogenemia, Familial visceral amyloidosis
RS2530820823 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530820911 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2530820915 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2530821025 MCCC2 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2530821118 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2530821547 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530821984 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2530822515 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
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