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 110 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P98172 non-pleiotropic VAR_023135 p.Pro119Thr Disease - - Craniofrontonasal syndrome (CFNS) [MIM:304110]
P98172 non-pleiotropic VAR_059256 p.Thr172Met Non-Disease rs7889678 - -
P98172 non-pleiotropic VAR_023136 p.Thr137Ala Disease - - Craniofrontonasal syndrome (CFNS) [MIM:304110]
P98172 non-pleiotropic VAR_023132 p.Gln115Pro Disease - - Craniofrontonasal syndrome (CFNS) [MIM:304110]
P98172 non-pleiotropic VAR_023141 p.Cys153Tyr Disease - - Craniofrontonasal syndrome (CFNS) [MIM:304110]
P98172 non-pleiotropic VAR_023140 p.Cys153Ser Disease - - Craniofrontonasal syndrome (CFNS) [MIM:304110]
P98172 non-pleiotropic VAR_023142 p.Arg154His Non-Disease - - -
P98172 non-pleiotropic VAR_023146 p.Ser182Arg Disease - - Craniofrontonasal syndrome (CFNS) [MIM:304110]
P98172 non-pleiotropic VAR_023144 p.Met158Ile Disease rs28935170 - Craniofrontonasal syndrome (CFNS) [MIM:304110]
P98172 non-pleiotropic VAR_023134 p.Pro119Ser Disease - - Craniofrontonasal syndrome (CFNS) [MIM:304110]
P98172 non-pleiotropic VAR_023131 p.Thr111Ile Disease - - Craniofrontonasal syndrome (CFNS) [MIM:304110]
Q15029 non-pleiotropic VAR_067582 p.Leu637Arg Disease - - Mandibulofacial dysostosis with microcephaly (MFDM) [MIM:610536]
Q15029 non-pleiotropic VAR_014931 p.Gly773Val Non-Disease rs1056505 - -
Q15029 non-pleiotropic VAR_067581 p.Cys476Arg Disease - - Mandibulofacial dysostosis with microcephaly (MFDM) [MIM:610536]
Q15029 non-pleiotropic VAR_067580 p.Arg262Trp Disease - - Mandibulofacial dysostosis with microcephaly (MFDM) [MIM:610536]
P01133 non-pleiotropic VAR_020165 p.Met842Thr Non-Disease rs11569046 0.0298 -
P01133 non-pleiotropic VAR_033826 p.Leu292His Non-Disease rs35191533 0.0037 -
P01133 non-pleiotropic VAR_020968 p.Asp257His Non-Disease rs11568911 0.0037 -
P01133 non-pleiotropic VAR_020166 p.Leu1043Phe Non-Disease rs11569098 0.0069 -
P01133 non-pleiotropic VAR_020970 p.Glu920Val Non-Disease rs4698803 0.0882 -
P01133 non-pleiotropic VAR_020972 p.Ala1084Gly Non-Disease rs11569111 0.0087 -
P01133 non-pleiotropic VAR_020969 p.Ser638Arg Non-Disease rs11568992 0.0041 -
P01133 non-pleiotropic VAR_039474 p.Pro1070Leu Disease - - Hypomagnesemia 4 (HOMG4) [MIM:611718]
P01133 non-pleiotropic VAR_020971 p.Asp981Glu Non-Disease rs11569086 0.0002 -
P01133 non-pleiotropic VAR_020163 p.Gly723Arg Non-Disease rs6413481 0.0002 -
P01133 non-pleiotropic VAR_020162 p.Arg431Lys Non-Disease rs11568943 0.163 -
P01133 non-pleiotropic VAR_002275 p.Met708Ile Non-Disease rs2237051 0.4068 -
P01133 non-pleiotropic VAR_020164 p.Asp784Val Non-Disease rs11569017 0.0918 -
P01133 non-pleiotropic VAR_020161 p.Ser16Arg Non-Disease rs11568849 0.0078 -
P01133 non-pleiotropic VAR_033825 p.His151Tyr Non-Disease rs9991664 0.0156 -
Q9GZT9 non-pleiotropic VAR_027371 p.Pro317Arg Disease - - Erythrocytosis, familial, 3 (ECYT3) [MIM:609820]
Q9GZT9 non-pleiotropic VAR_045902 p.Arg371His Disease - - Erythrocytosis, familial, 3 (ECYT3) [MIM:609820]
Q08426 non-pleiotropic VAR_070949 p.Glu3Lys Disease - - Fanconi renotubular syndrome 3 (FRTS3) [MIM:615605]
Q08426 non-pleiotropic VAR_047134 p.Thr606Pro Non-Disease rs1042438 - -
Q08426 non-pleiotropic VAR_047133 p.Ala274Thr Non-Disease rs2302819 0.084 -
Q08426 non-pleiotropic VAR_054332 p.Lys598Thr Non-Disease rs1042437 - -
Q08426 non-pleiotropic VAR_054329 p.Val40Gly Non-Disease rs1062551 - -
Q08426 non-pleiotropic VAR_054331 p.Ala325Gly Non-Disease rs1062555 - -
Q08426 non-pleiotropic VAR_047135 p.Gln685Lys Non-Disease rs11919970 0.1616 -
Q08426 non-pleiotropic VAR_054330 p.Ile41Arg Non-Disease rs1062552 - -
Q08426 non-pleiotropic VAR_047132 p.Thr75Ile Non-Disease rs1062553 - -
Q08426 non-pleiotropic VAR_047136 p.Leu715Ser Non-Disease rs11927618 0.0193 -
Q9H9B1 non-pleiotropic VAR_069183 p.Cys1075Tyr Disease - - Kleefstra syndrome (KLESTS) [MIM:610253]
Q9H9B1 non-pleiotropic VAR_027642 p.Ala388Thr Non-Disease rs11137198 0.0087 -
Q9NZJ5 non-pleiotropic VAR_040477 p.Asp566Val Non-Disease rs55791823 0.0009 -
Q9NZJ5 non-pleiotropic VAR_011409 p.Ser136Cys Non-Disease rs867529 0.2883 -
Q9NZJ5 non-pleiotropic VAR_011411 p.Ala704Ser Non-Disease rs1805165 0.2879 -
Q9NZJ5 non-pleiotropic VAR_011410 p.Gln166Arg Non-Disease rs13045 0.3471 -
Q9NZJ5 non-pleiotropic VAR_011408 p.Arg588Gln Disease - - Wolcott-Rallison syndrome (WRS) [MIM:226980]
Q9NZJ5 non-pleiotropic VAR_040478 p.Pro716Leu Non-Disease - - -