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 92 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P26998 non-pleiotropic VAR_025278 p.His113Asp Non-Disease rs9608378 0.3246 -
P26998 non-pleiotropic VAR_025280 p.Gly165Arg Disease - - Cataract 22 (CTRCT22) [MIM:609741]
P07315 non-pleiotropic VAR_021142 p.Thr5Pro Disease - - Cataract 2, multiple types (CTRCT2) [MIM:604307]
P07315 non-pleiotropic VAR_021144 p.Arg169Trp Disease - - Cataract 2, multiple types (CTRCT2) [MIM:604307]
P07315 non-pleiotropic VAR_067212 p.Gly129Cys Disease - - Cataract 2, multiple types (CTRCT2) [MIM:604307]
P07315 non-pleiotropic VAR_021143 p.Arg48His Non-Disease rs61751949 0.0037 -
P07315 non-pleiotropic VAR_038432 p.Phe6Leu Non-Disease rs2242072 - -
P07320 non-pleiotropic VAR_021146 p.Met102Val Non-Disease - - -
P07320 non-pleiotropic VAR_034956 p.Glu107Ala Disease - - Cataract 4, multiple types (CTRCT4) [MIM:115700]
P07320 non-pleiotropic VAR_034955 p.Pro24Ser Disease rs28931605 - Cataract 4, multiple types (CTRCT4) [MIM:115700]
P07320 non-pleiotropic VAR_021145 p.Pro24Thr Disease - - Cataract 4, multiple types (CTRCT4) [MIM:115700]
P07320 non-pleiotropic VAR_010734 p.Arg37Ser Disease - - Cataract 4, multiple types (CTRCT4) [MIM:115700]
P07320 non-pleiotropic VAR_010735 p.Arg59His Disease - - Cataract 4, multiple types (CTRCT4) [MIM:115700]
P07320 non-pleiotropic VAR_064829 p.Trp43Arg Disease - - Cataract 4, multiple types (CTRCT4) [MIM:115700]
P07320 non-pleiotropic VAR_010733 p.Arg15Cys Disease - - Cataract 4, multiple types (CTRCT4) [MIM:115700]
P22914 non-pleiotropic VAR_069797 p.Gly18Val Disease - - Cataract 20, multiple types (CTRCT20) [MIM:116100]
P07333 non-pleiotropic VAR_067410 p.Met875Thr Disease - - Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
P07333 non-pleiotropic VAR_042040 p.Gly413Ser Non-Disease rs34951517 0.0073 -
P07333 non-pleiotropic VAR_067398 p.Glu633Lys Disease - - Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
P07333 non-pleiotropic VAR_067402 p.Ala770Pro Disease - - Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
P07333 non-pleiotropic VAR_049718 p.Val279Met Non-Disease rs3829986 0.0087 -
P07333 non-pleiotropic VAR_042041 p.Leu536Val Non-Disease rs55942044 0.0004 -
P07333 non-pleiotropic VAR_067407 p.Phe849Ser Disease - - Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
P07333 non-pleiotropic VAR_067409 p.Leu868Pro Disease - - Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
P07333 non-pleiotropic VAR_067399 p.Arg710His Non-Disease - - -
P07333 non-pleiotropic VAR_067411 p.Pro878Thr Disease - - Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
P07333 non-pleiotropic VAR_067406 p.Asp837Tyr Disease - - Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
P07333 non-pleiotropic VAR_042044 p.Arg921Gln Non-Disease rs56059682 0.0002 -
P07333 non-pleiotropic VAR_011953 p.Tyr969Cys Non-Disease rs1801271 - -
P07333 non-pleiotropic VAR_067400 p.Gly747Arg Non-Disease rs41355444 0.0014 -
P07333 non-pleiotropic VAR_067401 p.Met766Thr Disease - - Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
P07333 non-pleiotropic VAR_067397 p.Gly589Glu Disease - - Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
P07333 non-pleiotropic VAR_042038 p.Val32Gly Non-Disease rs56048668 0.0009 -
P07333 non-pleiotropic VAR_067405 p.Ile794Thr Disease - - Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
P07333 non-pleiotropic VAR_067404 p.Ile775Asn Disease - - Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
P07333 non-pleiotropic VAR_061290 p.Ala245Ser Non-Disease rs41338945 0.0253 -
P07333 non-pleiotropic VAR_042039 p.His362Arg Non-Disease rs10079250 0.1534 -
P07333 non-pleiotropic VAR_042043 p.Glu920Asp Non-Disease rs34030164 0.0009 -
P15509 non-pleiotropic VAR_058507 p.Gly196Arg Disease - - Pulmonary surfactant metabolism dysfunction 4 (SMDP4) [MIM:300770]
Q99062 non-pleiotropic VAR_063065 p.Thr640Asn Disease rs121918426 0.002 Hereditary neutrophilia (NEUTROPHILIA) [MIM:162830]
Q99062 non-pleiotropic VAR_014331 p.Tyr562His Non-Disease rs3917996 0.0051 -
Q99062 non-pleiotropic VAR_014326 p.Asp320Asn Non-Disease rs3918018 0.0147 -
Q99062 non-pleiotropic VAR_014325 p.Met231Thr Non-Disease rs3917973 0.0234 -
Q99062 non-pleiotropic VAR_014328 p.Glu405Lys Non-Disease rs3918019 0.0032 -
Q99062 non-pleiotropic VAR_014330 p.Asp510His Non-Disease rs3917991 0.0505 -
Q99062 non-pleiotropic VAR_014329 p.Arg440Gln Non-Disease rs3918020 0.0051 -
Q99062 non-pleiotropic VAR_014332 p.Arg583Cys Non-Disease rs3917997 - -
Q99062 non-pleiotropic VAR_014327 p.Gln346Arg Non-Disease rs3917974 0.0234 -
P48730 non-pleiotropic VAR_029075 p.Thr44Ala Disease - - Advanced sleep phase syndrome, familial, 2 (FASPS2) [MIM:615224]
P48730 non-pleiotropic VAR_042081 p.Pro401Ala Non-Disease rs56124628 0.0005 -