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
RS1669915673 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1669916953 HADHA Health Risk Pathogenic Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS1669918554 HADHA Health Risk Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS1669958074 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1669960668 MSH6 Health Risk Pathogenic —
RS1669962346 MSH6 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Mismatch repair cancer syndrome 3
RS1669964889 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1669994959 SNX27 Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1670028028 TPO Health Risk Pathogenic Congenital hypothyroidism, Congenital hypothyroidism
RS1670035485 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1670037662 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1670039388 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1670040394 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1670044220 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1670047042 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1670051013 HADHA Health Risk Pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS1670054668 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colon cancer, Lynch syndrome 5
RS1670067657 TPO Health Risk Pathogenic —
RS1670089838 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1670107084 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1670108675 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1670119651 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1670120965 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1670123011 MSH6 Health Risk Pathogenic/Likely pathogenic Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms
RS1670125444 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1670128490 HADHA Health Risk Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS1670129588 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1670131098 BCL11A Health Risk Pathogenic/Likely pathogenic Dias-Logan syndrome, Dias-Logan syndrome
RS1670140478 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1670145015 BCL11A Health Risk Pathogenic Postaxial polydactyly, Delayed speech and language development
RS1670156041 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1670170578 COL4A2 Health Risk Pathogenic/Likely pathogenic —
RS1670172561 HADHA Health Risk Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS1670172615 HADHA Health Risk Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS1670201397 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Mismatch repair cancer syndrome 3
RS1670205307 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1670208407 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1670224976 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS1670228122 MPZ Health Risk Likely pathogenic Charcot-Marie-Tooth disease, type I
RS1670228993 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1670232790 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS1670244293 MPZ Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS1670257221 MPZ Health Risk Likely pathogenic Charcot-Marie-Tooth disease, type I
RS1670258438 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS1670263376 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS1670263519 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS1670264356 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS1670284480 MPZ Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, type I
RS1670288801 MPZ Health Risk Likely pathogenic Charcot-Marie-Tooth disease, type I
RS1670288858 MPZ Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, type I
RS1670312400 SNX27 Health Risk Likely pathogenic See cases, See cases
RS1670352190 NBAS Health Risk Likely pathogenic —
RS1670353845 FBXO11 Health Risk Pathogenic —
RS1670354261 FBXO11 Health Risk Pathogenic —
RS1670355281 FBXO11 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Neurodevelopmental disorder
RS1670356255 FBXO11 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1670356870 FBXO11 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1670357007 FBXO11 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS1670358755 FBXO11 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1670368880 NBAS Health Risk Likely pathogenic —
RS1670371887 FBXO11 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS1670380730 ECM1 Health Risk Likely pathogenic Lipid proteinosis, Lipid proteinosis
RS1670387998 TTC7A Health Risk Pathogenic —
RS1670398017 TTC7A Health Risk Likely pathogenic Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
RS1670422432 LRPPRC Health Risk Pathogenic/Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1670430380 PPP1R21 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, facial dysmorphism
RS1670492319 PRKACB Health Risk Pathogenic Cardioacrofacial dysplasia 2, Cardioacrofacial dysplasia 2
RS1670493461 BCL11A Health Risk Likely pathogenic —
RS1670493547 BCL11A Health Risk Likely pathogenic —
RS1670493597 BCL11A Health Risk Likely pathogenic Intellectual disability, Inborn genetic diseases
RS1670493669 BCL11A Health Risk Likely pathogenic —
RS1670495445 BCL11A Health Risk Likely pathogenic —
RS1670504473 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1670517782 SDHC Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor
RS1670528197 FBXO11 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS1670533 RNF212 Health Risk association RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1, RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1
RS1670562308 SPR Health Risk Pathogenic Dystonic disorder, Dystonic disorder
RS1670562900 SPR Health Risk Pathogenic Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dopa-responsive dystonia due to sepiapterin reductase deficiency
RS1670576656 SPR Health Risk Likely pathogenic Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dystonic disorder
RS1670577442 SPR Health Risk Likely pathogenic Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dopa-responsive dystonia due to sepiapterin reductase deficiency
RS1670577739 SPR Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1670578079 SPR Health Risk Conflicting classifications of pathogenicity Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dystonic disorder
RS1670587668 HADHA Health Risk Pathogenic Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS1670587952 HADHA Health Risk Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS1670589674 HADHA Health Risk Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS1670591013 HADHA Health Risk Pathogenic/Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS1670619549 SPR Health Risk Pathogenic Dystonic disorder, Dystonic disorder
RS1670693281 HADHA Health Risk Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS1670695099 HADHA Health Risk Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS1670695370 HADHA Health Risk Pathogenic Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS1670695733 HADHA Health Risk Pathogenic/Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS1670699993 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1670710360 SDHC Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3
RS1670719129 NRXN1 Health Risk Pathogenic Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS1670742227 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS1670753929 FBXO11 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1670754178 FBXO11 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1670770987 EFEMP1 Health Risk Pathogenic —
RS1670773680 HADHA Health Risk Pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS1670775186 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
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