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
RS587784055 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS587784056 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS587784058 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Inborn genetic diseases
RS587784059 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS587784060 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS587784062 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS587784063 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS587784064 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, NIPBL-related disorder
RS587784065 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS587784066 NKX2-5 Health Risk Pathogenic Malformation of the heart and great vessels, Malformation of the heart and great vessels
RS587784067 NKX2-5 Health Risk Pathogenic/Likely pathogenic Malformation of the heart and great vessels, Atrial septal defect 7
RS587784068 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784069 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, NSD1-related disorder
RS587784071 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784072 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS587784073 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784076 NSD1 Health Risk Pathogenic Sotos syndrome, Neoplasm
RS587784077 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784078 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784079 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784080 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784081 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784082 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784084 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784085 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784086 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784087 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784088 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784089 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784092 NSD1 Health Risk Pathogenic Intellectual disability, Inborn genetic diseases
RS587784093 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784094 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784095 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784096 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784097 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784098 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784099 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784100 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784101 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784103 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784104 NSD1 Health Risk Pathogenic Beckwith-Wiedemann syndrome, Sotos syndrome
RS587784105 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784107 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784109 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784110 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784111 NSD1 Health Risk Pathogenic Inborn genetic diseases, Sotos syndrome
RS587784112 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784114 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784115 NSD1 Health Risk Pathogenic Acute myeloid leukemia, Sotos syndrome
RS587784116 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS587784117 NSD1 Health Risk Pathogenic Inborn genetic diseases, Sotos syndrome
RS587784118 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784119 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784120 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS587784121 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784122 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784123 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784124 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784125 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784126 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784127 NSD1 Health Risk Pathogenic/Likely pathogenic Sotos syndrome, Sotos syndrome
RS587784128 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784129 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Inborn genetic diseases
RS587784130 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS587784131 NSD1 Health Risk Pathogenic See cases, Sotos syndrome
RS587784132 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784133 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784134 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS587784135 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS587784137 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784138 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784139 NSD1 Health Risk Pathogenic/Likely pathogenic Sotos syndrome, Sotos syndrome
RS587784140 NSD1 Health Risk Pathogenic/Likely pathogenic Sotos syndrome, Sotos syndrome
RS587784141 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784142 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784143 NSD1 Health Risk Pathogenic/Likely pathogenic Sotos syndrome, Sotos syndrome
RS587784144 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS587784145 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784146 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS587784147 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784148 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784149 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784150 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS587784151 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784152 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784153 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784154 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784155 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS587784156 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS587784157 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784158 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784160 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784162 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784163 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784164 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784165 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784166 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS587784167 NSD1 Health Risk Pathogenic/Likely pathogenic Sotos syndrome, Sotos syndrome
RS587784168 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS587784169 NSD1 Health Risk Pathogenic Sotos syndrome, Inborn genetic diseases
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