Found 7392 SAVs (36.7 %)from pleiotropic protein and 12743 SAVs (63.3 %) from non-pleiotropic protein.
15222 disease SAVs (75.6 %) and 4913 non-disease (24.4 %).
20135 items found (page 179 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
O00165 | non-pleiotropic | VAR_064514 | p.Leu130Arg | Disease | rs179363871 | - | Neutropenia, severe congenital 3, autosomal recessive (SCN3) [MIM:610738] |
O00165 | non-pleiotropic | VAR_062261 | p.Ser278Pro | Non-Disease | rs1804715 | - | - |
P53701 | non-pleiotropic | VAR_030823 | p.Arg217Cys | Disease | - | - | Microphthalmia, syndromic, 7 (MCOPS7) [MIM:309801] |
P51610 | non-pleiotropic | VAR_050043 | p.Ser2004Ile | Non-Disease | rs6643651 | - | - |
P51610 | non-pleiotropic | VAR_069098 | p.Ser225Asn | Disease | rs318240758 | - | Mental retardation, X-linked 3 (MRX3) [MIM:309541] |
P51610 | non-pleiotropic | VAR_019813 | p.Ser1164Pro | Non-Disease | rs1051152 | 0.5 | - |
O43612 | non-pleiotropic | VAR_011633 | p.Leu16Arg | Disease | - | - | Narcolepsy 1 (NRCLP1) [MIM:161400] |
Q86Y56 | non-pleiotropic | VAR_056911 | p.Val632Ala | Non-Disease | rs4720951 | 0.3914 | - |
Q86Y56 | non-pleiotropic | VAR_060463 | p.Arg560Cys | Non-Disease | rs73258248 | 0.0026 | - |
Q86Y56 | non-pleiotropic | VAR_068969 | p.Leu795Pro | Disease | - | - | Ciliary dyskinesia, primary, 18 (CILD18) [MIM:614874] |
Q86Y56 | non-pleiotropic | VAR_060464 | p.Arg743Lys | Non-Disease | rs3922641 | 0.3313 | - |
Q9BYE0 | non-pleiotropic | VAR_064922 | p.Ile58Val | Disease | - | - | Spondylocostal dysostosis 4, autosomal recessive (SCDO4) [MIM:613686] |
Q9BYE0 | non-pleiotropic | VAR_064923 | p.Asp186Tyr | Disease | - | - | Spondylocostal dysostosis 4, autosomal recessive (SCDO4) [MIM:613686] |
Q9BYE0 | non-pleiotropic | VAR_064921 | p.Arg25Trp | Disease | - | - | Spondylocostal dysostosis 4, autosomal recessive (SCDO4) [MIM:613686] |
P07686 | non-pleiotropic | VAR_003253 | p.Arg505Gln | Disease | - | - | GM2-gangliosidosis 2 (GM2G2) [MIM:268800] |
P07686 | non-pleiotropic | VAR_011705 | p.Pro504Ser | Disease | - | - | GM2-gangliosidosis 2 (GM2G2) [MIM:268800] |
P07686 | non-pleiotropic | VAR_003250 | p.Cys309Tyr | Disease | - | - | GM2-gangliosidosis 2 (GM2G2) [MIM:268800] |
P07686 | non-pleiotropic | VAR_003251 | p.Pro417Leu | Disease | rs28942073 | 0.0006 | GM2-gangliosidosis 2 (GM2G2) [MIM:268800] |
P07686 | non-pleiotropic | VAR_011704 | p.Ser255Arg | Disease | - | - | GM2-gangliosidosis 2 (GM2G2) [MIM:268800] |
P07686 | non-pleiotropic | VAR_003247 | p.Ser62Leu | Disease | rs820878 | 0.0186 | GM2-gangliosidosis 2 (GM2G2) [MIM:268800] |
P07686 | non-pleiotropic | VAR_011706 | p.Ala543Thr | Disease | - | - | GM2-gangliosidosis 2 (GM2G2) [MIM:268800] |
P07686 | non-pleiotropic | VAR_003248 | p.Lys121Arg | Non-Disease | rs11556045 | 0.208 | - |
P07686 | non-pleiotropic | VAR_003249 | p.Ile207Val | Non-Disease | rs10805890 | 0.1497 | - |
P07686 | non-pleiotropic | VAR_003254 | p.Cys534Tyr | Disease | - | - | GM2-gangliosidosis 2 (GM2G2) [MIM:268800] |
P07686 | non-pleiotropic | VAR_003252 | p.Tyr456Ser | Disease | - | - | GM2-gangliosidosis 2 (GM2G2) [MIM:268800] |
Q6ZVN8 | non-pleiotropic | VAR_019623 | p.Asp172Glu | Disease | - | - | Hemochromatosis 2A (HFE2A) [MIM:602390] |
Q6ZVN8 | non-pleiotropic | VAR_019628 | p.Arg288Trp | Disease | - | - | Hemochromatosis 2A (HFE2A) [MIM:602390] |
Q6ZVN8 | non-pleiotropic | VAR_019618 | p.Ser85Pro | Disease | - | - | Hemochromatosis 2A (HFE2A) [MIM:602390] |
Q6ZVN8 | non-pleiotropic | VAR_019625 | p.Ser205Arg | Disease | - | - | Hemochromatosis 2A (HFE2A) [MIM:602390] |
Q6ZVN8 | non-pleiotropic | VAR_019626 | p.Ile222Asn | Disease | - | - | Hemochromatosis 2A (HFE2A) [MIM:602390] |
Q6ZVN8 | non-pleiotropic | VAR_019617 | p.Cys80Arg | Disease | rs28940586 | - | Hemochromatosis 2A (HFE2A) [MIM:602390] |
Q6ZVN8 | non-pleiotropic | VAR_019622 | p.Phe170Ser | Disease | - | - | Hemochromatosis 2A (HFE2A) [MIM:602390] |
Q6ZVN8 | non-pleiotropic | VAR_053636 | p.Ala310Gly | Non-Disease | rs7540883 | 0.0225 | - |
Q6ZVN8 | non-pleiotropic | VAR_019619 | p.Gly99Arg | Disease | - | - | Hemochromatosis 2A (HFE2A) [MIM:602390] |
Q6ZVN8 | non-pleiotropic | VAR_019621 | p.Ala168Asp | Disease | - | - | Hemochromatosis 2A (HFE2A) [MIM:602390] |
Q6ZVN8 | non-pleiotropic | VAR_019620 | p.Leu101Pro | Disease | - | - | Hemochromatosis 2A (HFE2A) [MIM:602390] |
Q6ZVN8 | non-pleiotropic | VAR_019624 | p.Trp191Cys | Disease | - | - | Hemochromatosis 2A (HFE2A) [MIM:602390] |
Q6ZVN8 | non-pleiotropic | VAR_019629 | p.Gly320Val | Disease | - | - | Hemochromatosis 2A (HFE2A) [MIM:602390] |
Q6ZVN8 | non-pleiotropic | VAR_019627 | p.Gly250Val | Disease | - | - | Hemochromatosis 2A (HFE2A) [MIM:602390] |
Q6ZVN8 | non-pleiotropic | VAR_019927 | p.Cys321Trp | Disease | - | - | Hemochromatosis 2A (HFE2A) [MIM:602390] |
Q93099 | non-pleiotropic | VAR_005287 | p.Met368Val | Disease | rs120074173 | 0.0006 | Alkaptonuria (AKU) [MIM:203500] |
Q93099 | non-pleiotropic | VAR_005279 | p.Ser189Ile | Disease | - | - | Alkaptonuria (AKU) [MIM:203500] |
Q93099 | non-pleiotropic | VAR_005276 | p.Ala122Asp | Disease | - | - | Alkaptonuria (AKU) [MIM:203500] |
Q93099 | non-pleiotropic | VAR_008744 | p.Arg330Ser | Disease | - | - | Alkaptonuria (AKU) [MIM:203500] |
Q93099 | non-pleiotropic | VAR_005275 | p.Trp97Gly | Disease | - | - | Alkaptonuria (AKU) [MIM:203500] |
Q93099 | non-pleiotropic | VAR_009620 | p.Gly270Arg | Disease | - | - | Alkaptonuria (AKU) [MIM:203500] |
Q93099 | non-pleiotropic | VAR_049353 | p.Gln80His | Non-Disease | rs2255543 | 0.2635 | - |
Q93099 | non-pleiotropic | VAR_008745 | p.His371Arg | Disease | - | - | Alkaptonuria (AKU) [MIM:203500] |
Q93099 | non-pleiotropic | VAR_005285 | p.Asp291Glu | Disease | - | - | Alkaptonuria (AKU) [MIM:203500] |
Q93099 | non-pleiotropic | VAR_005274 | p.Tyr62Cys | Disease | - | - | Alkaptonuria (AKU) [MIM:203500] |