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 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]