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
RS2153140607 LRP5 Health Risk Pathogenic —
RS2153153067 LRP5 Health Risk Pathogenic/Likely pathogenic Osteoporosis with pseudoglioma, Osteoporosis with pseudoglioma
RS2153153124 LRP5 Health Risk Likely pathogenic Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS2153153322 LRP5 Health Risk Pathogenic —
RS2153166468 LRP5 Health Risk Pathogenic —
RS2153166493 LRP5 Health Risk Pathogenic —
RS2153167012 LRP5 Health Risk Likely pathogenic —
RS2153168193 LRP5 Health Risk Pathogenic —
RS2153169246 LRP5 Health Risk Pathogenic —
RS2153172016 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153173930 LRP5 Health Risk Pathogenic —
RS2153178673 LRP5 Health Risk Likely pathogenic Exudative vitreoretinopathy 4, Exudative vitreoretinopathy 4
RS2153180156 SYNE1 Health Risk Likely pathogenic —
RS2153181207 LRP5 Health Risk Pathogenic —
RS2153182108 LRP5 Health Risk Pathogenic —
RS2153185865 LRP5 Health Risk Pathogenic —
RS2153185913 LRP5 Health Risk Pathogenic —
RS2153195911 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153196376 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153218155 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2153222922 MEF2C Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS2153222958 MEF2C Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder with hypotonia
RS2153223851 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS2153224037 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS2153224076 DNAH1 Health Risk Likely pathogenic Ciliary dyskinesia, primary
RS2153224677 DNAH1 Health Risk Likely pathogenic —
RS2153226175 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2153226204 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153226205 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS2153226220 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2153226226 BAP1 Health Risk Likely pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153226279 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS2153226324 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2153226429 BAP1 Health Risk Likely pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153226434 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153226476 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS2153226486 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153226489 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2153226493 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153226499 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153226523 BAP1 Health Risk Pathogenic/Likely pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2153226566 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2153226608 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153226657 BAP1 Health Risk Pathogenic/Likely pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153226665 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2153226675 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153226696 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153226700 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153226707 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153226742 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153226756 BAP1 Health Risk Pathogenic —
RS2153226766 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153226773 BAP1 Health Risk Likely pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2153226819 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153226821 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS2153226834 BAP1;DNAH1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, Familial melanoma
RS2153226844 BAP1 Health Risk Pathogenic —
RS2153226845 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2153226848 BAP1 Health Risk Likely pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153226861 BAP1 Health Risk Pathogenic/Likely pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2153226878 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153226883 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS2153226890 BAP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS2153226993 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2153227082 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153227087 BAP1 Health Risk Likely pathogenic —
RS2153227205 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153227249 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2153227280 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2153227431 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2153227460 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153227484 BAP1 Health Risk Likely pathogenic Kury-Isidor syndrome, Kury-Isidor syndrome
RS2153227498 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153227622 BAP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS2153227636 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153227651 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153227652 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2153227653 BAP1 Health Risk Pathogenic/Likely pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2153227660 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153227761 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153227786 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153227788 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2153227827 BAP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2153227828 BAP1 Health Risk Conflicting classifications of pathogenicity Kury-Isidor syndrome, Neurodevelopmental disorder
RS2153227868 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153227879 BAP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS2153227888 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS2153227933 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2153227958 BAP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2153227978 BAP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Melanoma
RS2153227983 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153228069 BAP1 Health Risk Likely pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153228070 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153228142 BAP1;PHF7 Health Risk Pathogenic/Likely pathogenic Kury-Isidor syndrome, Kury-Isidor syndrome
RS2153228144 BAP1 Health Risk Likely pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153228146 BAP1 Health Risk Likely pathogenic —
RS2153228147 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153228161 BAP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS2153228278 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS2153228293 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
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