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 116 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q92889 pleiotropic VAR_008202 p.Arg490Gln Disease - - Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]
Q92889 pleiotropic VAR_013408 p.Glu875Gly Non-Disease rs1800124 0.0087 -
Q92889 pleiotropic VAR_070087 p.Cys236Arg Disease - - Xeroderma pigmentosum type F/Cockayne syndrome (XPF/CS) [MIM:278760]
Q92889 pleiotropic VAR_013399 p.Ile717Thr Non-Disease - - -
Q92889 pleiotropic VAR_008203 p.Glu502Lys Disease - - Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]
Q92889 pleiotropic VAR_008201 p.Arg454Trp Disease - - Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]
P50548 non-pleiotropic VAR_070098 p.Arg65Gln Disease - - Craniosynostosis 4 (CRS4) [MIM:600775]
P50548 non-pleiotropic VAR_070099 p.Arg86Cys Disease - - Craniosynostosis 4 (CRS4) [MIM:600775]
P50548 non-pleiotropic VAR_048947 p.Arg205His Non-Disease rs1053655 - -
Q5T6L9 non-pleiotropic VAR_033300 p.Ser540Gly Non-Disease rs4716346 0.2617 -
Q5T6L9 non-pleiotropic VAR_070433 p.Ile377Asn Disease - - Periventricular nodular heterotopia 6 (PVNH6) [MIM:615544]
O95718 non-pleiotropic VAR_043504 p.Leu320Pro Disease - - Deafness, autosomal recessive, 35 (DFNB35) [MIM:608565]
O95718 non-pleiotropic VAR_043505 p.Val342Leu Disease - - Deafness, autosomal recessive, 35 (DFNB35) [MIM:608565]
O95718 non-pleiotropic VAR_043503 p.Ala110Val Disease - - Deafness, autosomal recessive, 35 (DFNB35) [MIM:608565]
O95718 non-pleiotropic VAR_043507 p.Pro386Ser Non-Disease rs61742642 0.0707 -
O95718 non-pleiotropic VAR_043506 p.Leu347Pro Disease - - Deafness, autosomal recessive, 35 (DFNB35) [MIM:608565]
P13804 non-pleiotropic VAR_008547 p.Thr171Ile Non-Disease rs1801591 0.05 -
P13804 non-pleiotropic VAR_002366 p.Gly116Arg Disease - - Glutaric aciduria 2A (GA2A) [MIM:231680]
P13804 non-pleiotropic VAR_002367 p.Val157Gly Disease - - Glutaric aciduria 2A (GA2A) [MIM:231680]
P13804 non-pleiotropic VAR_002368 p.Thr266Met Disease - - Glutaric aciduria 2A (GA2A) [MIM:231680]
P38117 non-pleiotropic VAR_025804 p.Asp128Asn Disease - - Glutaric aciduria 2B (GA2B) [MIM:231680]
P38117 non-pleiotropic VAR_008548 p.Thr154Met Non-Disease rs1130426 0.4197 -
P38117 non-pleiotropic VAR_002369 p.Arg164Gln Disease rs104894677 0.0002 Glutaric aciduria 2B (GA2B) [MIM:231680]
O95571 non-pleiotropic VAR_069507 p.Leu55Pro Disease - - Ethylmalonic encephalopathy (EE) [MIM:602473]
O95571 non-pleiotropic VAR_023397 p.Arg163Trp Disease rs28940289 - Ethylmalonic encephalopathy (EE) [MIM:602473]
O95571 non-pleiotropic VAR_023395 p.Tyr38Cys Disease - - Ethylmalonic encephalopathy (EE) [MIM:602473]
O95571 non-pleiotropic VAR_069511 p.Asp196Asn Disease - - Ethylmalonic encephalopathy (EE) [MIM:602473]
O95571 non-pleiotropic VAR_023396 p.Thr136Ala Disease - - Ethylmalonic encephalopathy (EE) [MIM:602473]
O95571 non-pleiotropic VAR_069508 p.Thr152Ile Disease - - Ethylmalonic encephalopathy (EE) [MIM:602473]
O95571 non-pleiotropic VAR_023398 p.Leu185Arg Disease - - Ethylmalonic encephalopathy (EE) [MIM:602473]
O95571 non-pleiotropic VAR_069509 p.Arg163Gln Disease - - Ethylmalonic encephalopathy (EE) [MIM:602473]
O95571 non-pleiotropic VAR_069510 p.Thr164Lys Disease - - Ethylmalonic encephalopathy (EE) [MIM:602473]
P57679 pleiotropic VAR_009945 p.Gly403Ser Non-Disease rs183114391 0.0009 -
P57679 pleiotropic VAR_009948 p.Arg576Gln Non-Disease rs1383180 0.3361 -
P57679 pleiotropic VAR_009949 p.Arg760Gln Non-Disease rs2279252 0.0234 -
P57679 pleiotropic VAR_033852 p.Ala114Val Non-Disease rs16837598 0.0523 -
P57679 pleiotropic VAR_009944 p.Ser307Pro Disease - - Acrofacial dysostosis, Weyers type (WAD) [MIM:193530]
P57679 pleiotropic VAR_009942 p.Gln74Pro Non-Disease rs2291157 0.1152 -
P57679 pleiotropic VAR_033853 p.Thr372Met Non-Disease rs28483498 0.0376 -
P57679 pleiotropic VAR_066448 p.Leu623Pro Disease - - Ellis-van Creveld syndrome (EVC) [MIM:225500]
P57679 pleiotropic VAR_009946 p.Arg443Gln Disease rs35953626 0.0729 Ellis-van Creveld syndrome (EVC) [MIM:225500]
P57679 pleiotropic VAR_009943 p.Tyr258His Non-Disease rs6414624 0.2264 -
P57679 pleiotropic VAR_066447 p.Ser206Asn Disease - - Ellis-van Creveld syndrome (EVC) [MIM:225500]
P57679 pleiotropic VAR_009947 p.Thr449Lys Non-Disease rs2302075 0.1662 -
P57679 pleiotropic VAR_009950 p.Asp953Gly Non-Disease - - -
Q86UK5 non-pleiotropic VAR_017210 p.Thr699Ala Non-Disease rs730469 0.4972 -
Q86UK5 non-pleiotropic VAR_051089 p.Ser230Gly Non-Disease rs4689278 0.2374 -
Q86UK5 non-pleiotropic VAR_017209 p.Ile283Arg Disease - - Ellis-van Creveld syndrome (EVC) [MIM:225500]
Q86UK5 non-pleiotropic VAR_017211 p.Arg950Trp Disease - - Ellis-van Creveld syndrome (EVC) [MIM:225500]
Q9NQT5 non-pleiotropic VAR_068508 p.Trp238Arg Disease - - Pontocerebellar hypoplasia 1B (PCH1B) [MIM:614678]