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
RS1553333310 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1553333321 FBXO11;MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Endometrial carcinoma
RS1553333346 MSH6 Health Risk Pathogenic Lynch syndrome 5, Gaucher disease type I
RS1553333370 MSH6 Health Risk Likely pathogenic Lynch syndrome 5, Lynch syndrome 5
RS1553333377 MSH6 Health Risk Pathogenic —
RS1553333420 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553333421 MSH6 Health Risk Pathogenic/Likely pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS1553333432 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553333435 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553333438 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1553333449 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS1553333497 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS1553333500 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553333526 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553333530 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553333540 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553333561 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553333584 MSH6 Health Risk Likely pathogenic Carcinoma of colon, Breast and/or ovarian cancer
RS1553333594 MSH6 Health Risk Pathogenic Lynch syndrome, Endometrial carcinoma
RS1553333598 MSH6 Health Risk Pathogenic Carcinoma of colon, Endometrial carcinoma
RS1553333599 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553333605 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553333615 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553333633 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553333635 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colon cancer, Hereditary nonpolyposis colorectal neoplasms
RS1553333644 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553333674 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553333682 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS1553333690 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS1553333700 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553333707 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch-like syndrome
RS1553333718 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS1553333731 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553333738 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553333753 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1553334056 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553334089 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1553334863 FBXO11 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Neurodevelopmental disorder
RS1553334874 FBXO11 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Neurodevelopmental disorder
RS1553335247 FBXO11 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Inborn genetic diseases
RS1553335836 RYR2 Health Risk Likely pathogenic —
RS1553336397 TBCE Health Risk Likely pathogenic Encephalopathy, progressive
RS1553337590 SIX3 Health Risk Likely pathogenic —
RS1553337648 SIX3 Health Risk Pathogenic —
RS1553337688 SIX3 Health Risk Pathogenic Holoprosencephaly 2, Holoprosencephaly 2
RS1553338592 FBXO11 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Neurodevelopmental disorder
RS1553339084 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1553339086 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Squamous cell lung carcinoma
RS1553339816 TBCE Health Risk Likely pathogenic —
RS1553340506 FH Health Risk Pathogenic/Likely pathogenic —
RS1553340681 FH Health Risk Pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary leiomyomatosis and renal cell cancer
RS1553340686 FH Health Risk Pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS1553340687 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553340708 FH Health Risk Pathogenic —
RS1553340709 FH Health Risk Likely pathogenic —
RS1553340717 FH Health Risk Conflicting classifications of pathogenicity —
RS1553340880 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS1553340884 FH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553340891 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553341012 FH Health Risk Pathogenic Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS1553341017 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553341026 FH Health Risk Pathogenic —
RS1553341031 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS1553341032 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS1553341034 FH Health Risk Pathogenic —
RS1553341037 FH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS1553341046 FH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553341049 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553341148 FH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS1553341163 FH Health Risk Pathogenic/Likely pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary leiomyomatosis and renal cell cancer
RS1553341174 FH Health Risk Pathogenic/Likely pathogenic Hereditary leiomyomatosis and renal cell cancer, Fumarase deficiency
RS1553341337 FH Health Risk Pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary leiomyomatosis and renal cell cancer
RS1553341345 FH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553341353 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553341364 FH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS1553341367 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS1553341582 FH Health Risk Likely pathogenic Hereditary leiomyomatosis and renal cell cancer, Fumarase deficiency
RS1553341583 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553341607 FH Health Risk Likely pathogenic —
RS1553341610 FH Health Risk Pathogenic —
RS1553341623 FH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553341942 FH Health Risk Pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS1553341945 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553341951 FH Health Risk Pathogenic —
RS1553341989 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS1553342101 FBXO11 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS1553342109 FBXO11 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Neurodevelopmental disorder
RS1553342155 FH Health Risk Likely pathogenic —
RS1553342167 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS1553342786 B3GALNT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS1553342984 EPCAM Health Risk Pathogenic/Likely pathogenic Congenital diarrhea 5 with tufting enteropathy, Congenital diarrhea 5 with tufting enteropathy
RS1553343100 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1553344107 SLC3A1 Health Risk Pathogenic Cystinuria, Cystinuria
RS1553344875 KCNH1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1553345844 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1553345874 CNTN2 Health Risk Likely pathogenic Epilepsy, familial adult myoclonic
RS1553345948 KCNH1 Health Risk Pathogenic Temple-Baraitser syndrome, Temple-Baraitser syndrome
RS1553347334 NLRC4 Health Risk Likely pathogenic Autoinflammatory syndrome, Autoinflammatory syndrome
RS1553347743 CNTN2 Health Risk Pathogenic Epilepsy, familial adult myoclonic
RS1553347936 B3GALNT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
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