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
Disease name
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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 215 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
O60663 non-pleiotropic VAR_004200 p.Arg223Gln Disease rs28939692 - Nail-patella syndrome (NPS) [MIM:161200]
O60663 non-pleiotropic VAR_015193 p.Cys83Trp Disease - - Nail-patella syndrome (NPS) [MIM:161200]
O60663 non-pleiotropic VAR_015192 p.Cys83Phe Disease - - Nail-patella syndrome (NPS) [MIM:161200]
O60663 non-pleiotropic VAR_015196 p.His137Tyr Disease - - Nail-patella syndrome (NPS) [MIM:161200]
O60663 non-pleiotropic VAR_015209 p.Asp106Gly Disease - - Nail-patella syndrome (NPS) [MIM:161200]
O60663 non-pleiotropic VAR_015208 p.Cys86Arg Disease - - Nail-patella syndrome (NPS) [MIM:161200]
O60663 non-pleiotropic VAR_047755 p.Ser75Phe Non-Disease rs2235058 - -
O60663 non-pleiotropic VAR_015203 p.His77Gln Disease - - Nail-patella syndrome (NPS) [MIM:161200]
O60663 non-pleiotropic VAR_015205 p.Cys80Arg Disease - - Nail-patella syndrome (NPS) [MIM:161200]
O60663 non-pleiotropic VAR_015195 p.Cys118Tyr Disease - - Nail-patella syndrome (NPS) [MIM:161200]
O60663 non-pleiotropic VAR_004201 p.Ala236Pro Disease - - Nail-patella syndrome (NPS) [MIM:161200]
O60663 non-pleiotropic VAR_015198 p.Trp266Cys Disease - - Nail-patella syndrome (NPS) [MIM:161200]
O60663 non-pleiotropic VAR_015197 p.Cys140Tyr Disease - - Nail-patella syndrome (NPS) [MIM:161200]
O60663 non-pleiotropic VAR_015191 p.Leu81Trp Disease - - Nail-patella syndrome (NPS) [MIM:161200]
O60663 non-pleiotropic VAR_015211 p.Cys146Phe Disease - - Nail-patella syndrome (NPS) [MIM:161200]
O60663 non-pleiotropic VAR_004203 p.Arg249Pro Disease - - Nail-patella syndrome (NPS) [MIM:161200]
O60663 non-pleiotropic VAR_015204 p.His77Tyr Disease - - Nail-patella syndrome (NPS) [MIM:161200]
O60663 non-pleiotropic VAR_015194 p.Cys103Trp Disease - - Nail-patella syndrome (NPS) [MIM:161200]
O60663 non-pleiotropic VAR_015213 p.Leu252Pro Disease - - Nail-patella syndrome (NPS) [MIM:161200]
O60663 non-pleiotropic VAR_015190 p.His77Asn Disease - - Nail-patella syndrome (NPS) [MIM:161200]
O60663 non-pleiotropic VAR_015206 p.Cys83Gly Disease - - Nail-patella syndrome (NPS) [MIM:161200]
O60663 non-pleiotropic VAR_004205 p.Asn269Lys Disease - - Nail-patella syndrome (NPS) [MIM:161200]
O60663 non-pleiotropic VAR_004198 p.Cys118Phe Disease - - Nail-patella syndrome (NPS) [MIM:161200]
O60663 non-pleiotropic VAR_015202 p.Cys59Ser Disease - - Nail-patella syndrome (NPS) [MIM:161200]
Q92539 non-pleiotropic VAR_023817 p.Ser734Leu Disease - - Majeed syndrome (MAJEEDS) [MIM:609628]
P50851 non-pleiotropic VAR_057610 p.Leu2713Phe Non-Disease rs34662958 0.0096 -
P50851 non-pleiotropic VAR_022028 p.Ser2809Leu Non-Disease rs2290846 0.1938 -
P50851 non-pleiotropic VAR_057608 p.Arg1997Cys Non-Disease rs35879351 0.0179 -
P50851 non-pleiotropic VAR_057609 p.Ala2704Thr Non-Disease rs3749574 0.2107 -
P50851 non-pleiotropic VAR_057607 p.Asn1677Ser Non-Disease rs17027133 0.0041 -
P50851 non-pleiotropic VAR_057606 p.Gly1230Asp Non-Disease rs34708681 0.006 -
P50851 non-pleiotropic VAR_068690 p.Ile2657Ser Disease - - Immunodeficiency, common variable, 8, with autoimmunity (CVID8) [MIM:614700]
P50851 non-pleiotropic VAR_057605 p.Ala1090Gly Non-Disease rs1782360 0.1524 -
Q3SXY7 non-pleiotropic VAR_061317 p.Ser175Asn Non-Disease rs4698797 0.4876 -
Q3SXY7 non-pleiotropic VAR_036928 p.Ala486Thr Non-Disease rs2347131 0.2369 -
Q3SXY7 non-pleiotropic VAR_069746 p.Cys328Tyr Disease - - Night blindness, congenital stationary, 1F (CSNB1F) [MIM:615058]
Q3SXY7 non-pleiotropic VAR_036929 p.Thr503Met Non-Disease rs2347132 0.2374 -
Q3SXY7 non-pleiotropic VAR_036927 p.Met336Leu Non-Disease rs764205 0.489 -
P98164 non-pleiotropic VAR_005421 p.Ala1287Pro Non-Disease - - -
P98164 non-pleiotropic VAR_020219 p.Arg3305His Non-Disease rs3213760 0.0037 -
P98164 non-pleiotropic VAR_020218 p.Ile2065Thr Non-Disease rs2228168 0.0018 -
P98164 non-pleiotropic VAR_005423 p.Lys4094Glu Non-Disease rs2075252 0.258 -
P98164 non-pleiotropic VAR_005424 p.Ile4210Leu Non-Disease rs4667591 0.4591 -
P98164 non-pleiotropic VAR_037014 p.Arg3011Met Non-Disease rs11674973 - -
P98164 non-pleiotropic VAR_061294 p.Gly259Arg Non-Disease rs34693334 0.0363 -
P98164 non-pleiotropic VAR_029183 p.Arg2012Lys Non-Disease rs4667596 0.0381 -
P98164 non-pleiotropic VAR_037013 p.Tyr2522His Disease - - Donnai-Barrow syndrome (DBS) [MIM:222448]
P98164 non-pleiotropic VAR_037012 p.His1083Gln Non-Disease rs2302691 - -
P98164 non-pleiotropic VAR_029184 p.Asn2632Asp Non-Disease rs17848169 0.0188 -
P98164 non-pleiotropic VAR_037011 p.His909Arg Non-Disease rs36082715 0.0129 -