SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS863225131 AHI1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 3, Joubert syndrome and related disorders
RS863225132 AHI1 Health Risk Pathogenic Joubert syndrome 3, Joubert syndrome 3
RS863225133 AHI1 Health Risk Pathogenic Joubert syndrome 3, Joubert syndrome 3
RS863225134 AHI1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 3, Joubert syndrome 3
RS863225135 AHI1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 3, Joubert syndrome
RS863225136 AHI1 Health Risk Pathogenic Joubert syndrome 3, Joubert syndrome
RS863225137 AHI1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 3, Joubert syndrome
RS863225138 AHI1 Health Risk Pathogenic Joubert syndrome 3, Joubert syndrome and related disorders
RS863225139 AHI1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 3, Joubert syndrome
RS863225140 AHI1 Health Risk Pathogenic Joubert syndrome 3, Joubert syndrome 3
RS863225141 AHI1 Health Risk Pathogenic Joubert syndrome 3, Joubert syndrome 3
RS863225142 AHI1 Health Risk Pathogenic Joubert syndrome 3, See cases
RS863225143 AHI1 Health Risk Pathogenic Joubert syndrome 3, Joubert syndrome
RS863225144 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 3, Joubert syndrome
RS863225145 AHI1 Health Risk Pathogenic Joubert syndrome 3, Joubert syndrome 3
RS863225146 AHI1 Health Risk Pathogenic Joubert syndrome 3, Joubert syndrome 3
RS863225147 AHI1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 3, Joubert syndrome
RS863225148 AHI1 Health Risk Pathogenic Joubert syndrome 3, Joubert syndrome 3
RS863225149 ARL13B Health Risk Conflicting classifications of pathogenicity Joubert syndrome 8, Joubert syndrome 8
RS863225150 B9D2 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Joubert syndrome and related disorders
RS863225151 C2CD3 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS863225152 CPLANE1 Health Risk Pathogenic Joubert syndrome 17, Joubert syndrome 17
RS863225153 CPLANE1 Health Risk Pathogenic Joubert syndrome 17, Joubert syndrome 17
RS863225154 CPLANE1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 17, Joubert syndrome 17
RS863225155 CPLANE1 Health Risk Pathogenic Joubert syndrome 17, Joubert syndrome 17
RS863225156 CPLANE1 Health Risk Pathogenic Joubert syndrome 17, Joubert syndrome 17
RS863225157 CPLANE1 Health Risk Pathogenic Joubert syndrome 17, Joubert syndrome 17
RS863225158 CPLANE1 Health Risk Pathogenic Joubert syndrome 17, CPLANE1-related disorder
RS863225159 CPLANE1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 17, Orofaciodigital syndrome type 6
RS863225161 CPLANE1 Health Risk Pathogenic Joubert syndrome 17, Orofaciodigital syndrome type 6
RS863225162 CPLANE1 Health Risk Pathogenic Joubert syndrome 17, Joubert syndrome 17
RS863225163 CPLANE1 Health Risk Pathogenic Joubert syndrome 17, Orofaciodigital syndrome type 6
RS863225164 CPLANE1 Health Risk Pathogenic Joubert syndrome 17, Orofaciodigital syndrome type 6
RS863225165 CPLANE1 Health Risk Pathogenic Joubert syndrome 17, Joubert syndrome 17
RS863225166 CPLANE1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 17, Joubert syndrome 17
RS863225167 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, CPLANE1-related disorder
RS863225168 CC2D2A Health Risk Pathogenic/Likely pathogenic Joubert syndrome 9, Joubert syndrome
RS863225169 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome 9, Joubert syndrome
RS863225170 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome 9, Joubert syndrome
RS863225171 CC2D2A Health Risk Pathogenic Joubert syndrome 9, Joubert syndrome
RS863225172 CC2D2A Health Risk Pathogenic Joubert syndrome 9, Joubert syndrome 9
RS863225173 CC2D2A Health Risk Pathogenic/Likely pathogenic Joubert syndrome 9, Joubert syndrome
RS863225174 CC2D2A Health Risk Pathogenic Joubert syndrome 9, Joubert syndrome 9
RS863225175 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome 9, Joubert syndrome
RS863225176 CC2D2A Health Risk Pathogenic/Likely pathogenic Joubert syndrome 9, Joubert syndrome 9
RS863225177 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome 9, Joubert syndrome
RS863225178 CC2D2A Health Risk Pathogenic Joubert syndrome 9, Neurodevelopmental disorder
RS863225179 CC2D2A Health Risk Pathogenic/Likely pathogenic Joubert syndrome 9, Joubert syndrome
RS863225181 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome 9, Meckel-Gruber syndrome
RS863225182 CEP290 Health Risk Pathogenic Joubert syndrome 5, Meckel-Gruber syndrome
RS863225183 CEP290 Health Risk Pathogenic Joubert syndrome 5, Nephronophthisis
RS863225184 CEP290 Health Risk Pathogenic Joubert syndrome 5, Joubert syndrome
RS863225185 CEP290 Health Risk Pathogenic Joubert syndrome 5, Meckel syndrome
RS863225186 CEP290 Health Risk Pathogenic Joubert syndrome 5, Nephronophthisis
RS863225187 CEP290 Health Risk Pathogenic Joubert syndrome 5, Bardet-Biedl syndrome 14
RS863225188 CEP290 Health Risk Pathogenic Joubert syndrome 5, Joubert syndrome 5
RS863225189 CEP290 Health Risk Pathogenic Joubert syndrome 5, Joubert syndrome
RS863225190 CSPP1 Health Risk Pathogenic Joubert syndrome 21, CSPP1-related disorder
RS863225191 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS863225192 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS863225193 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS863225194 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS863225197 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome
RS863225198 INPP5E Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS863225199 INPP5E Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS863225200 INPP5E Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Joubert syndrome and related disorders
RS863225201 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome
RS863225202 INPP5E Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS863225203 KIAA0586 Health Risk Pathogenic Joubert syndrome 23, Joubert syndrome 23
RS863225204 MKS1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS863225205 MKS1 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS863225206 MKS1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS863225207 MKS1 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS863225208 MKS1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS863225209 MKS1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS863225210 MKS1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS863225211 OFD1 Health Risk Pathogenic Joubert syndrome 10, Joubert syndrome 10
RS863225212 OFD1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 10, Joubert syndrome
RS863225213 OFD1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 10, Orofaciodigital syndrome I
RS863225214 PIBF1 Health Risk Likely pathogenic Joubert syndrome, Joubert syndrome
RS863225215 RPGRIP1L Health Risk Pathogenic Joubert syndrome 7, Joubert syndrome
RS863225216 RPGRIP1L Health Risk Pathogenic Joubert syndrome 7, Joubert syndrome 7
RS863225217 RPGRIP1L Health Risk Pathogenic Joubert syndrome 7, Joubert syndrome
RS863225218 RPGRIP1L Health Risk Pathogenic Joubert syndrome 7, Joubert syndrome
RS863225219 RPGRIP1L Health Risk Pathogenic Joubert syndrome 7, Joubert syndrome 7
RS863225220 TCTN2 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS863225221 TCTN2 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS863225222 TCTN2 Health Risk Pathogenic Joubert syndrome, Meckel syndrome
RS863225224 TMEM67 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 6, Meckel-Gruber syndrome
RS863225225 TMEM67 Health Risk Pathogenic Joubert syndrome 6, Joubert syndrome 6
RS863225226 TMEM67 Health Risk Pathogenic Joubert syndrome 6, Joubert syndrome 6
RS863225227 TMEM67 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 6, 6 conditions
RS863225228 TMEM67 Health Risk Pathogenic Joubert syndrome 6, Joubert syndrome 6
RS863225229 TMEM67 Health Risk Pathogenic Joubert syndrome 6, Joubert syndrome 6
RS863225230 TMEM67 Health Risk Pathogenic Joubert syndrome 6, Joubert syndrome 6
RS863225231 TMEM67 Health Risk Pathogenic Joubert syndrome 6, Joubert syndrome 6
RS863225232 TMEM67 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 6, TMEM67-related disorder
RS863225233 TMEM67 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 6, 6 conditions
RS863225234 TMEM67 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 6, Joubert syndrome 6
RS863225235 TMEM67 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 6, Joubert syndrome
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