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 217 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
O75197 pleiotropic VAR_063954 p.Thr409Ala Disease - - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197 pleiotropic VAR_063951 p.Thr390Lys Disease - - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197 pleiotropic VAR_063955 p.Asp434Asn Disease - - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197 pleiotropic VAR_063412 p.Met282Val Disease - - High bone mass trait (HBM) [MIM:601884]
O75197 pleiotropic VAR_063978 p.Cys1253Phe Disease - - Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197 pleiotropic VAR_063979 p.Gly1401Asp Disease - - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197 pleiotropic VAR_063973 p.Arg805Trp Disease - - Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197 pleiotropic VAR_071013 p.Leu540Pro Disease - - Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197 pleiotropic VAR_063976 p.Arg1113Cys Disease - - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197 pleiotropic VAR_063946 p.Thr244Met Disease - - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197 pleiotropic VAR_063947 p.Ser307Phe Disease - - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197 pleiotropic VAR_063943 p.Leu145Phe Disease - - Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197 pleiotropic VAR_063959 p.Glu460Lys Disease - - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197 pleiotropic VAR_021222 p.Arg570Gln Disease - - Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197 pleiotropic VAR_063968 p.Gly610Arg Disease - - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197 pleiotropic VAR_018467 p.Cys1361Gly Disease - - Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197 pleiotropic VAR_063957 p.Arg444Cys Disease - - Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197 pleiotropic VAR_021223 p.Arg752Gly Disease - - Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197 pleiotropic VAR_021809 p.Gly171Val Disease - - High bone mass trait (HBM) [MIM:601884]
O75197 pleiotropic VAR_063953 p.Gly404Arg Disease - - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197 pleiotropic VAR_021225 p.Ala1525Val Non-Disease rs1127291 0.006 -
O75197 pleiotropic VAR_063969 p.Phe617Cys Disease - - Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197 pleiotropic VAR_063971 p.Tyr733His Disease - - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197 pleiotropic VAR_063949 p.Arg353Gln Disease - - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197 pleiotropic VAR_021813 p.Thr253Ile Disease - - Osteopetrosis, autosomal dominant 1 (OPTA1) [MIM:607634]
O75197 pleiotropic VAR_021816 p.Val667Met Non-Disease rs4988321 0.022 -
O75197 pleiotropic VAR_063970 p.Asp683Asn Disease - - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197 pleiotropic VAR_063974 p.Arg1036Gln Non-Disease rs61889560 0.0014 -
O75197 pleiotropic VAR_035208 p.Val1204Leu Non-Disease rs11607268 - -
O75197 pleiotropic VAR_063972 p.Thr798Ala Disease - - Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197 pleiotropic VAR_018465 p.Thr173Met Disease - - Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75581 non-pleiotropic VAR_034702 p.Arg1401His Non-Disease rs34815107 0.0046 -
O75581 non-pleiotropic VAR_034701 p.Arg611Cys Disease - - Coronary artery disease, autosomal dominant, 2 (ADCAD2) [MIM:610947]
O75581 non-pleiotropic VAR_024520 p.Val1062Ile Non-Disease rs2302685 0.1212 -
O75581 non-pleiotropic VAR_030349 p.Val483Ile Non-Disease rs7975614 0.0482 -
O75581 non-pleiotropic VAR_030350 p.Ser817Cys Non-Disease rs2302686 0.0018 -
P42704 non-pleiotropic VAR_018656 p.Ala354Val Disease - - Leigh syndrome French-Canadian type (LSFC) [MIM:220111]
P42704 non-pleiotropic VAR_052935 p.Thr478Ala Non-Disease rs35035668 0.0179 -
Q86X45 non-pleiotropic VAR_069038 p.Ala74Pro Disease - - Ciliary dyskinesia, primary, 19 (CILD19) [MIM:614935]
Q86X45 non-pleiotropic VAR_023603 p.Thr232Ile Non-Disease rs2293979 0.4587 -
Q86X45 non-pleiotropic VAR_069039 p.Asp146His Disease rs200321595 - Ciliary dyskinesia, primary, 19 (CILD19) [MIM:614935]
Q86X45 non-pleiotropic VAR_031223 p.Ile466Thr Non-Disease rs9297853 0.1309 -
Q5S007 non-pleiotropic VAR_024955 p.Met1869Thr Disease rs35602796 0.0002 Parkinson disease 8 (PARK8) [MIM:607060]
Q5S007 non-pleiotropic VAR_024953 p.Ser1647Thr Non-Disease rs11564148 0.2755 -
Q5S007 non-pleiotropic VAR_024948 p.Arg1514Gln Disease rs35507033 0.0016 Parkinson disease 8 (PARK8) [MIM:607060]
Q5S007 non-pleiotropic VAR_047022 p.Asp1375Glu Non-Disease rs28365226 - -
Q5S007 non-pleiotropic VAR_024947 p.Arg1441His Disease rs34995376 - Parkinson disease 8 (PARK8) [MIM:607060]
Q5S007 non-pleiotropic VAR_024951 p.Arg1628Pro Non-Disease rs33949390 0.0051 -
Q5S007 non-pleiotropic VAR_054749 p.Glu2395Lys Non-Disease - - -
Q5S007 non-pleiotropic VAR_054748 p.Arg2143His Disease - - Parkinson disease 8 (PARK8) [MIM:607060]