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 67 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P13569 pleiotropic VAR_009901 p.Ile506Met Non-Disease rs1800092 0.0002 -
P13569 pleiotropic VAR_000224 p.Tyr917Cys Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000202 p.Ile618Thr Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000112 p.Gly85Glu Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000127 p.Ala141Asp Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000254 p.Ile1234Val Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000243 p.Gln1071Pro Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000249 p.Met1137Val Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000237 p.Arg1066His Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000196 p.Gly576Ala Non-Disease rs1800098 0.0037 -
P13569 pleiotropic VAR_000161 p.Val456Phe Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000128 p.Ile148Thr Disease rs35516286 0.0014 Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000152 p.Leu346Pro Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000195 p.Pro574His Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000244 p.Pro1072Leu Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000232 p.Phe1052Val Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000173 p.Asp513Gly Disease - - Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569 pleiotropic VAR_000108 p.Trp57Gly Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000146 p.Gly314Glu Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000136 p.Leu206Trp Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000255 p.Ser1235Arg Disease rs34911792 0.0018 Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000140 p.Asn287Tyr Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000153 p.Arg347His Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000203 p.Leu619Ser Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000133 p.His199Gln Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000113 p.Phe87Leu Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000116 p.Gln98Arg Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000137 p.Cys225Arg Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000160 p.Ala455Glu Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000125 p.Ala120Thr Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000102 p.Arg31Cys Non-Disease rs1800073 0.0018 -
P13569 pleiotropic VAR_000130 p.Gly178Arg Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000120 p.Pro111Leu Disease - - Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569 pleiotropic VAR_009904 p.Ser909Ile Non-Disease rs1800107 - -
P13569 pleiotropic VAR_000233 p.Gly1061Arg Disease rs142394380 0.0002 Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000201 p.Asp614Gly Disease rs201124247 0.0004 Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000150 p.Ile336Lys Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000107 p.Ser50Tyr Disease - - Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569 pleiotropic VAR_000264 p.Gln1291His Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000139 p.Arg258Gly Disease rs191456345 0.0002 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569 pleiotropic VAR_000175 p.Gly544Val Disease - - Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P13569 pleiotropic VAR_000194 p.Asp572Asn Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000169 p.Ile507Val Non-Disease rs1800091 - -
P13569 pleiotropic VAR_000181 p.Arg553Gln Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000226 p.Met952Ile Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000132 p.Glu193Lys Disease - - Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000252 p.Arg1162Leu Non-Disease rs1800120 0.0009 -
P13569 pleiotropic VAR_009902 p.Ser654Gly Non-Disease rs1800099 - -
P13569 pleiotropic VAR_000228 p.Ile1005Arg Disease - - Cystic fibrosis (CF) [MIM:219700]
P13569 pleiotropic VAR_000221 p.Cys866Tyr Disease - - Cystic fibrosis (CF) [MIM:219700]