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 20 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P54886 non-pleiotropic VAR_038482 p.Arg84Gln Disease - - Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150]
P54886 non-pleiotropic VAR_051792 p.Thr299Ile Non-Disease rs2275272 0.0849 -
P54886 non-pleiotropic VAR_058006 p.His784Tyr Disease - - Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150]
P54886 non-pleiotropic VAR_051793 p.Ser372Tyr Non-Disease rs3765571 0.0211 -
P47895 non-pleiotropic VAR_069325 p.Ala493Pro Disease - - Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
P47895 non-pleiotropic VAR_069324 p.Ile369Phe Disease - - Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
P47895 non-pleiotropic VAR_069323 p.Ala145Val Disease - - Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
P47895 non-pleiotropic VAR_069322 p.Arg89Cys Disease - - Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
P47895 non-pleiotropic VAR_019706 p.Met386Val Non-Disease rs3803430 0.1111 -
P51648 non-pleiotropic VAR_002250 p.Cys214Tyr Disease - - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648 non-pleiotropic VAR_017517 p.Arg228Cys Disease rs72547566 0.0002 Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648 non-pleiotropic VAR_002251 p.Cys226Trp Disease - - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648 non-pleiotropic VAR_017513 p.Pro121Leu Disease - - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648 non-pleiotropic VAR_017524 p.His411Tyr Disease - - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648 non-pleiotropic VAR_017525 p.Ser415Asn Disease - - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648 non-pleiotropic VAR_017526 p.Phe419Ser Disease - - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648 non-pleiotropic VAR_017522 p.Asn386Ser Disease - - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648 non-pleiotropic VAR_002249 p.Leu106Arg Disease - - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648 non-pleiotropic VAR_017527 p.Arg423His Disease - - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648 non-pleiotropic VAR_017518 p.Cys237Tyr Disease - - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648 non-pleiotropic VAR_017528 p.Lys447Glu Disease rs67939114 0.0002 Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648 non-pleiotropic VAR_017514 p.Thr184Met Disease - - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648 non-pleiotropic VAR_002256 p.Gly412Arg Disease - - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648 non-pleiotropic VAR_002254 p.Pro315Ser Disease - - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648 non-pleiotropic VAR_017523 p.Gly406Arg Disease - - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648 non-pleiotropic VAR_017510 p.Ile45Phe Disease - - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648 non-pleiotropic VAR_017520 p.Tyr279Asn Disease - - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648 non-pleiotropic VAR_017515 p.Thr184Arg Disease - - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648 non-pleiotropic VAR_017516 p.Gly185Ala Disease - - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648 non-pleiotropic VAR_017511 p.Val64Asp Disease - - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648 non-pleiotropic VAR_002255 p.Ser365Leu Disease - - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648 non-pleiotropic VAR_002252 p.Asp245Asn Disease - - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648 non-pleiotropic VAR_017512 p.Pro114Leu Disease - - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648 non-pleiotropic VAR_017519 p.Lys266Asn Disease - - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P51648 non-pleiotropic VAR_017521 p.Met328Ile Disease - - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P30038 non-pleiotropic VAR_048903 p.Thr473Ala Non-Disease rs6695033 0.0638 -
P30038 non-pleiotropic VAR_002260 p.Ser352Leu Disease - - Hyperprolinemia 2 (HP-2) [MIM:239510]
P30038 non-pleiotropic VAR_029337 p.Val470Ile Non-Disease rs2230709 0.0643 -
P30038 non-pleiotropic VAR_002259 p.Pro16Leu Non-Disease rs146450609 0.0239 -
P51649 non-pleiotropic VAR_026199 p.Cys93Phe Disease - - Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
P51649 non-pleiotropic VAR_026202 p.Thr233Met Disease - - Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
P51649 non-pleiotropic VAR_026228 p.Ala237Ser Non-Disease rs62621664 0.0083 -
P51649 non-pleiotropic VAR_026206 p.Pro382Leu Disease - - Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
P51649 non-pleiotropic VAR_026207 p.Pro382Gln Disease - - Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
P51649 non-pleiotropic VAR_026227 p.Gly36Arg Non-Disease rs4646832 0.0464 -
P51649 non-pleiotropic VAR_026208 p.Gly409Asp Disease - - Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
P51649 non-pleiotropic VAR_026200 p.Gly176Arg Disease - - Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
P51649 non-pleiotropic VAR_026205 p.Asn335Lys Disease - - Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
P51649 non-pleiotropic VAR_069047 p.Asn372Ser Non-Disease - - -
P51649 non-pleiotropic VAR_026209 p.Val487Glu Disease - - Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]