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 265 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P00480 non-pleiotropic VAR_012651 p.Ile160Ser Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004897 p.Gly188Arg Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_010608 p.Thr262Lys Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004876 p.Arg129His Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004873 p.His117Arg Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004843 p.Arg26Gln Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004940 p.Ala336Ser Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004925 p.Met268Thr Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004934 p.Cys303Arg Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004929 p.Arg277Gln Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004900 p.Asp196Val Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004854 p.Tyr55Asp Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004920 p.Asp263Gly Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004913 p.Pro225Leu Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004944 p.Thr343Lys Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004881 p.Ile159Thr Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_009234 p.Gly188Val Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_012653 p.Met206Ile Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_012655 p.Pro305His Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004871 p.Leu111Pro Non-Disease rs1800324 - -
P00480 non-pleiotropic VAR_004858 p.Gly79Glu Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004872 p.His117Leu Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004861 p.Gly83Arg Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004853 p.Gly50Arg Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004846 p.Arg40His Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004847 p.Leu43Phe Non-Disease - - -
Q6ZRI0 non-pleiotropic VAR_037415 p.Ala1832Val Non-Disease rs1003490 0.1074 -
Q6ZRI0 non-pleiotropic VAR_037406 p.Thr375Ser Non-Disease rs7130190 0.0978 -
Q6ZRI0 non-pleiotropic VAR_037407 p.Thr659Met Non-Disease rs7112749 0.0358 -
Q6ZRI0 non-pleiotropic VAR_037413 p.Ala1399Gly Non-Disease rs4491195 - -
Q6ZRI0 non-pleiotropic VAR_037409 p.Ala919Thr Non-Disease rs2355466 0.2773 -
Q6ZRI0 non-pleiotropic VAR_037410 p.Arg1075Gln Non-Disease rs11024333 0.1419 -
Q6ZRI0 non-pleiotropic VAR_069250 p.Pro2116Leu Disease - - Deafness, autosomal recessive, 18B (DFNB18B) [MIM:614945]
Q6ZRI0 non-pleiotropic VAR_037412 p.Pro1129Leu Non-Disease rs7936354 0.0308 -
Q6ZRI0 non-pleiotropic VAR_061161 p.Ala391Asp Non-Disease rs61611064 0.1132 -
Q6ZRI0 non-pleiotropic VAR_047262 p.Ala2006Val Non-Disease rs11024341 0.0006 -
Q6ZRI0 non-pleiotropic VAR_037414 p.Pro1646Leu Non-Disease rs2041028 0.4347 -
Q6ZRI0 non-pleiotropic VAR_037411 p.Ala1112Val Non-Disease rs7936324 0.0312 -
Q6ZRI0 non-pleiotropic VAR_037408 p.Ser692Pro Non-Disease rs7106548 0.4141 -
Q6ZRI0 non-pleiotropic VAR_037417 p.Arg2750Gln Non-Disease rs12422210 0.0826 -
Q6ZRI0 non-pleiotropic VAR_037416 p.Thr1947Met Non-Disease rs7111528 0.3411 -
Q6ZRI0 non-pleiotropic VAR_037418 p.Trp2909Ser Non-Disease rs11024357 0.1644 -
P32243 pleiotropic VAR_065952 p.Arg90Ser Disease - - Microphthalmia, syndromic, 5 (MCOPS5) [MIM:610125]
P32243 pleiotropic VAR_029355 p.Pro133Thr Disease - - Microphthalmia, syndromic, 5 (MCOPS5) [MIM:610125]
P32243 pleiotropic VAR_029356 p.Pro134Ala Disease - - Microphthalmia, syndromic, 5 (MCOPS5) [MIM:610125]
P32243 pleiotropic VAR_065953 p.Asn225Ser Disease - - Pituitary hormone deficiency, combined, 6 (CPHD6) [MIM:613986]
P32243 pleiotropic VAR_029354 p.Arg89Gly Disease - - Microphthalmia, syndromic, 5 (MCOPS5) [MIM:610125]
P55809 non-pleiotropic VAR_000697 p.Cys456Phe Disease - - Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050]
P55809 non-pleiotropic VAR_010337 p.Gly219Glu Disease - - Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050]
P55809 non-pleiotropic VAR_065568 p.Ser405Pro Disease - - Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050]