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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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 68 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P13569 pleiotropic VAR_048150 p.Lys532Glu Non-Disease rs35032490 - -
P13569 pleiotropic VAR_000190 p.Tyr569Cys Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000144 p.Phe311Leu Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000156 p.Arg352Gln Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000186 p.Arg560Thr Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000109 p.Pro67Leu Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000166 p.Ser492Phe Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000165 p.Gly480Cys Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000256 p.Gly1244Glu Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000126 p.His139Arg Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000121 p.Arg117Cys Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000184 p.Arg560Lys Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000123 p.Arg117Leu Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000247 p.Trp1098Arg Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000219 p.Glu822Lys Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000110 p.Arg74Trp Disease rs115545701 0.0054 Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000143 p.Ser307Asn Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000217 p.Ala800Gly Disease - - Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569 pleiotropic VAR_009898 p.Val322Met Non-Disease rs1800085 - -
P13569 pleiotropic VAR_000111 p.Arg75Gln Non-Disease rs1800076 0.0133 -
P13569 pleiotropic VAR_009903 p.Tyr903His Non-Disease rs1800106 - -
P13569 pleiotropic VAR_000177 p.Ser549Ile Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000189 p.Tyr563Asn Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_009896 p.Arg170His Non-Disease rs1800079 - -
P13569 pleiotropic VAR_000178 p.Ser549Arg Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000200 p.Ala613Thr Disease rs201978662 0.0002 Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000258 p.Ser1251Asn Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000211 p.Thr665Ser Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000141 p.Arg297Gln Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_011564 p.Arg1070Trp Disease rs202179988 0.0002 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569 pleiotropic VAR_000183 p.Ala559Thr Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000212 p.Arg668Cys Non-Disease rs1800100 0.0041 -
P13569 pleiotropic VAR_000231 p.Met1028Ile Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000119 p.Asp110His Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000246 p.His1085Arg Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000207 p.Gly628Arg Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000267 p.Asn1303Lys Disease rs80034486 0.0002 Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000214 p.Val754Met Disease rs150157202 0.0008 Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000151 p.Thr338Ile Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_048151 p.Ser605Phe Non-Disease rs766874 - -
P13569 pleiotropic VAR_000210 p.Asp651Asn Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000197 p.Asp579Gly Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000259 p.Ser1255Pro Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_009905 p.Leu967Ser Non-Disease rs1800110 0.0005 -
P13569 pleiotropic VAR_000103 p.Arg31Leu Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000104 p.Ser42Phe Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000157 p.Gln359Lys Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000180 p.Gly551Ser Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000135 p.Pro205Ser Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000138 p.Met244Lys Disease - - Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]