Variant List

Listed below are all the variants used in our analysis. You can refine the list by using the panel below.
To see only proteins and their associated diseases, see page.

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UniProtID
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Statistics

Found 7392 SAVs (36.7 %)from  pleiotropic protein  and 12743 SAVs (63.3 %) from non-pleiotropic protein.

pleiotropic

15222  disease SAVs  (75.6 %) and 4913 non-disease (24.4 %).

disease

20135 items found (page 46 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q8TAM1 non-pleiotropic VAR_026407 p.Gly677Val Disease - - Bardet-Biedl syndrome 10 (BBS10) [MIM:209900]
Q8TAM1 non-pleiotropic VAR_026393 p.Cys91Trp Disease - - Bardet-Biedl syndrome 10 (BBS10) [MIM:209900]
Q8TAM1 non-pleiotropic VAR_026404 p.Lys579Arg Disease rs141521925 0.002 Bardet-Biedl syndrome 10 (BBS10) [MIM:209900]
Q8TAM1 non-pleiotropic VAR_052272 p.Pro539Leu Non-Disease rs35676114 0.0354 -
Q8TAM1 non-pleiotropic VAR_026396 p.Tyr197Cys Disease - - Bardet-Biedl syndrome 10 (BBS10) [MIM:209900]
Q8TAM1 non-pleiotropic VAR_026395 p.Cys195Trp Disease - - Bardet-Biedl syndrome 10 (BBS10) [MIM:209900]
Q8TAM1 non-pleiotropic VAR_026401 p.Pro363Leu Disease - - Bardet-Biedl syndrome 10 (BBS10) [MIM:209900]
Q8TAM1 non-pleiotropic VAR_026394 p.Leu170Ser Disease - - Bardet-Biedl syndrome 10 (BBS10) [MIM:209900]
Q8TAM1 non-pleiotropic VAR_066259 p.Ala636Val Disease rs113224628 - Bardet-Biedl syndrome 10 (BBS10) [MIM:209900]
Q8TAM1 non-pleiotropic VAR_066252 p.Leu55Pro Disease - - Bardet-Biedl syndrome 10 (BBS10) [MIM:209900]
Q8TAM1 non-pleiotropic VAR_026397 p.Val240Gly Disease - - Bardet-Biedl syndrome 10 (BBS10) [MIM:209900]
Q8TAM1 non-pleiotropic VAR_066254 p.Lys188Thr Disease - - Bardet-Biedl syndrome 10 (BBS10) [MIM:209900]
Q8TAM1 non-pleiotropic VAR_026402 p.Leu376Phe Non-Disease rs11109474 - -
Q8TAM1 non-pleiotropic VAR_066255 p.Met255Ile Non-Disease rs139658279 - -
Q8TAM1 non-pleiotropic VAR_066258 p.Leu600Ser Disease - - Bardet-Biedl syndrome 10 (BBS10) [MIM:209900]
Q8TAM1 non-pleiotropic VAR_026403 p.Leu414Ser Disease - - Bardet-Biedl syndrome 10 (BBS10) [MIM:209900]
Q8TAM1 non-pleiotropic VAR_066253 p.Asp142Asn Non-Disease rs142863601 0.0046 -
Q8TAM1 non-pleiotropic VAR_066261 p.His715Arg Non-Disease - - -
Q8TAM1 non-pleiotropic VAR_026399 p.Ser311Ala Disease - - Bardet-Biedl syndrome 10 (BBS10) [MIM:209900]
Q8TAM1 non-pleiotropic VAR_066257 p.His410Gln Disease - - Bardet-Biedl syndrome 10 (BBS10) [MIM:209900]
Q8TAM1 non-pleiotropic VAR_026392 p.Arg49Trp Disease - - Bardet-Biedl syndrome 10 (BBS10) [MIM:209900]
Q8TAM1 non-pleiotropic VAR_026398 p.Leu308Phe Disease - - Bardet-Biedl syndrome 10 (BBS10) [MIM:209900]
Q6ZW61 non-pleiotropic VAR_066270 p.Arg355Gln Disease - - Bardet-Biedl syndrome 12 (BBS12) [MIM:209900]
Q6ZW61 non-pleiotropic VAR_062965 p.Thr501Met Disease - - Bardet-Biedl syndrome 12 (BBS12) [MIM:209900]
Q6ZW61 non-pleiotropic VAR_034930 p.Asp467Asn Non-Disease rs13135778 0.1093 -
Q6ZW61 non-pleiotropic VAR_062964 p.Ile346Thr Disease - - Bardet-Biedl syndrome 12 (BBS12) [MIM:209900]
Q6ZW61 non-pleiotropic VAR_066276 p.Gly539Asp Disease - - Bardet-Biedl syndrome 12 (BBS12) [MIM:209900]
Q6ZW61 non-pleiotropic VAR_034922 p.Pro159Leu Disease - - Bardet-Biedl syndrome 12 (BBS12) [MIM:209900]
Q6ZW61 non-pleiotropic VAR_034932 p.Gly540Val Disease - - Bardet-Biedl syndrome 12 (BBS12) [MIM:209900]
Q6ZW61 non-pleiotropic VAR_034926 p.Ala289Pro Disease - - Bardet-Biedl syndrome 12 (BBS12) [MIM:209900]
Q6ZW61 non-pleiotropic VAR_034931 p.Arg484Lys Non-Disease rs35690634 0.0069 -
Q6ZW61 non-pleiotropic VAR_066267 p.Gly119Ser Non-Disease rs77731085 0.0018 -
Q6ZW61 non-pleiotropic VAR_066268 p.Tyr263His Non-Disease rs150040166 0.0002 -
Q6ZW61 non-pleiotropic VAR_034919 p.Ile39Thr Non-Disease rs138036823 0.0041 -
Q6ZW61 non-pleiotropic VAR_034927 p.Arg386Gln Non-Disease rs309370 0.4775 -
Q6ZW61 non-pleiotropic VAR_066266 p.Leu88Arg Disease - - Bardet-Biedl syndrome 12 (BBS12) [MIM:209900]
Q6ZW61 non-pleiotropic VAR_066277 p.Arg674Cys Disease - - Bardet-Biedl syndrome 12 (BBS12) [MIM:209900]
Q6ZW61 non-pleiotropic VAR_034924 p.Lys195Arg Non-Disease rs17854892 - -
Q6ZW61 non-pleiotropic VAR_034923 p.Ile170Val Non-Disease - - -
Q6ZW61 non-pleiotropic VAR_066271 p.Val400Met Disease - - Bardet-Biedl syndrome 12 (BBS12) [MIM:209900]
Q6ZW61 non-pleiotropic VAR_034928 p.Ser429Thr Non-Disease rs7665271 0.034 -
Q6ZW61 non-pleiotropic VAR_066269 p.Gln293Glu Disease - - Bardet-Biedl syndrome 12 (BBS12) [MIM:209900]
Q6ZW61 non-pleiotropic VAR_034921 p.Glu126Asp Non-Disease rs309369 0.0106 -
Q6ZW61 non-pleiotropic VAR_034933 p.Ala615Val Non-Disease rs17857451 0.0002 -
Q6ZW61 non-pleiotropic VAR_034929 p.Asn461His Non-Disease rs10027479 0.0129 -
Q6ZW61 non-pleiotropic VAR_034925 p.Asn238Lys Non-Disease rs17006082 0.0037 -
Q6ZW61 non-pleiotropic VAR_066275 p.Arg525His Disease - - Bardet-Biedl syndrome 12 (BBS12) [MIM:209900]
Q9BXC9 non-pleiotropic VAR_066281 p.Leu125Arg Disease - - Bardet-Biedl syndrome 2 (BBS2) [MIM:209900]
Q9BXC9 non-pleiotropic VAR_066283 p.Cys307Trp Disease - - Bardet-Biedl syndrome 2 (BBS2) [MIM:209900]
Q9BXC9 non-pleiotropic VAR_013169 p.Arg632Pro Disease - - Bardet-Biedl syndrome 2 (BBS2) [MIM:209900]