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 195 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P26006 non-pleiotropic VAR_055967 p.Ile268Phe Non-Disease rs2230390 0.0002 -
P26006 non-pleiotropic VAR_068808 p.Arg628Pro Disease - - Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital (ILNEB) [MIM:614748]
P26006 non-pleiotropic VAR_055969 p.Gly840Ser Non-Disease rs2301626 0.0032 -
P53708 non-pleiotropic VAR_018675 p.Gln581Pro Non-Disease rs9333269 0.0496 -
P53708 non-pleiotropic VAR_018678 p.Val994Ala Non-Disease rs1041135 0.0861 -
P53708 non-pleiotropic VAR_034682 p.Val567Leu Non-Disease - - -
P53708 non-pleiotropic VAR_071107 p.Gly407Arg Disease - - Renal hypodysplasia/aplasia 1 (RHDA1) [MIM:191830]
P53708 non-pleiotropic VAR_018674 p.Ser577Phe Non-Disease rs2298033 0.0468 -
P53708 non-pleiotropic VAR_018677 p.Ile993Val Non-Disease rs9333241 0.0032 -
P53708 non-pleiotropic VAR_018676 p.Arg748His Non-Disease rs9333174 0.0023 -
P53708 non-pleiotropic VAR_018673 p.Val216Leu Non-Disease rs7895372 0.0285 -
P05107 non-pleiotropic VAR_003988 p.Lys196Thr Disease rs137852610 - Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
P05107 non-pleiotropic VAR_003991 p.Arg586Trp Disease rs5030672 0.0024 Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
P05107 non-pleiotropic VAR_003985 p.Leu149Pro Disease rs137852611 - Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
P05107 non-pleiotropic VAR_065664 p.Gly716Ala Disease rs179363872 - Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
P05107 non-pleiotropic VAR_065661 p.Asp128Tyr Disease rs137852615 - Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
P05107 non-pleiotropic VAR_003987 p.Pro178Leu Disease rs137852614 - Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
P05107 non-pleiotropic VAR_013402 p.Ser138Pro Disease rs137852617 - Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
P05107 non-pleiotropic VAR_065662 p.Ala239Thr Disease rs179363873 - Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
P05107 non-pleiotropic VAR_003992 p.Arg593Cys Disease rs137852609 - Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
P05107 non-pleiotropic VAR_003986 p.Gly169Arg Disease rs137852612 - Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
P05107 non-pleiotropic VAR_013403 p.Gly273Arg Disease rs137852618 - Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
P05107 non-pleiotropic VAR_065663 p.Asp300Val Disease rs179363874 - Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
P05107 non-pleiotropic VAR_003990 p.Asn351Ser Disease rs137852613 - Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
P05107 non-pleiotropic VAR_030035 p.Gln354His Non-Disease rs235330 0.0 -
P05107 non-pleiotropic VAR_003989 p.Gly284Ser Disease rs137852616 - Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
P05107 non-pleiotropic VAR_003984 p.Asp128Asn Disease rs137852615 - Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
Q08881 non-pleiotropic VAR_041713 p.Arg581Trp Non-Disease rs34482255 0.0018 -
Q08881 non-pleiotropic VAR_041714 p.Val587Ile Non-Disease rs56005928 0.0032 -
Q08881 non-pleiotropic VAR_051696 p.Arg193Gln Non-Disease rs17054374 0.0005 -
Q08881 non-pleiotropic VAR_063424 p.Arg335Trp Disease rs121908191 - Lymphoproliferative syndrome 1 (LPFS1) [MIM:613011]
Q9BY32 non-pleiotropic VAR_015576 p.Pro32Thr Disease rs1127354 0.0895 Inosine triphosphate pyrophosphohydrolase deficiency (ITPAD) [MIM:613850]
P26440 non-pleiotropic VAR_070061 p.Ala94Gly Disease - - Isovaleric acidemia (IVA) [MIM:243500]
P26440 non-pleiotropic VAR_015963 p.Cys357Arg Disease - - Isovaleric acidemia (IVA) [MIM:243500]
P26440 non-pleiotropic VAR_015961 p.Asp69Asn Disease - - Isovaleric acidemia (IVA) [MIM:243500]
P26440 non-pleiotropic VAR_000424 p.Gly199Val Disease - - Isovaleric acidemia (IVA) [MIM:243500]
P26440 non-pleiotropic VAR_070065 p.Tyr400Cys Disease - - Isovaleric acidemia (IVA) [MIM:243500]
P26440 non-pleiotropic VAR_015962 p.Ala311Val Disease rs28940889 0.0004 Isovaleric acidemia (IVA) [MIM:243500]
P26440 non-pleiotropic VAR_070062 p.Gly120Arg Disease rs142761835 - Isovaleric acidemia (IVA) [MIM:243500]
P26440 non-pleiotropic VAR_070063 p.Ile196Met Disease - - Isovaleric acidemia (IVA) [MIM:243500]
P26440 non-pleiotropic VAR_015964 p.Val371Ala Disease - - Isovaleric acidemia (IVA) [MIM:243500]
P26440 non-pleiotropic VAR_070064 p.Leu276Pro Disease - - Isovaleric acidemia (IVA) [MIM:243500]
P26440 non-pleiotropic VAR_015966 p.Arg411Leu Disease - - Isovaleric acidemia (IVA) [MIM:243500]
P26440 non-pleiotropic VAR_015965 p.Arg392Cys Disease - - Isovaleric acidemia (IVA) [MIM:243500]
P26440 non-pleiotropic VAR_015960 p.Arg50Pro Disease - - Isovaleric acidemia (IVA) [MIM:243500]
P26440 non-pleiotropic VAR_000423 p.Leu42Pro Disease - - Isovaleric acidemia (IVA) [MIM:243500]
Q6PHW0 non-pleiotropic VAR_045963 p.Arg101Trp Disease - - Thyroid dyshormonogenesis 4 (TDH4) [MIM:274800]
Q6PHW0 non-pleiotropic VAR_045965 p.Ile116Thr Disease - - Thyroid dyshormonogenesis 4 (TDH4) [MIM:274800]
Q6PHW0 non-pleiotropic VAR_025785 p.Leu260Pro Non-Disease rs17854906 - -
Q6PHW0 non-pleiotropic VAR_045966 p.Glu271Lys Non-Disease rs36063028 0.0601 -