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 106 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q9UPQ8 non-pleiotropic VAR_032851 p.Cys99Ser Disease - - Congenital disorder of glycosylation 1M (CDG1M) [MIM:610768]
Q9H3H5 pleiotropic VAR_068813 p.Gly160Ser Disease - - Myasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2) [MIM:614750]
Q9H3H5 pleiotropic VAR_068812 p.Leu120Met Disease - - Myasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2) [MIM:614750]
Q9H3H5 pleiotropic VAR_068815 p.Val264Gly Disease - - Myasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2) [MIM:614750]
Q9H3H5 pleiotropic VAR_011391 p.Ile393Val Non-Disease rs643788 0.4302 -
Q9H3H5 pleiotropic VAR_068811 p.Val117Ile Disease - - Myasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2) [MIM:614750]
Q9H3H5 pleiotropic VAR_017243 p.Tyr170Cys Disease rs28934876 0.0002 Congenital disorder of glycosylation 1J (CDG1J) [MIM:608093]
Q9H3H5 pleiotropic VAR_068810 p.Met108Ile Disease - - Myasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2) [MIM:614750]
Q9H3H5 pleiotropic VAR_068814 p.Gly192Ser Disease - - Myasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2) [MIM:614750]
O60762 non-pleiotropic VAR_070592 p.Gly152Val Disease - - Congenital disorder of glycosylation 1E (CDG1E) [MIM:608799]
O60762 non-pleiotropic VAR_012341 p.Arg92Gly Disease - - Congenital disorder of glycosylation 1E (CDG1E) [MIM:608799]
O60762 non-pleiotropic VAR_019841 p.Ser248Pro Disease - - Congenital disorder of glycosylation 1E (CDG1E) [MIM:608799]
O94777 non-pleiotropic VAR_033895 p.Thr76Ser Non-Disease rs7997 0.2948 -
O94777 non-pleiotropic VAR_069745 p.Tyr23Cys Disease - - Congenital disorder of glycosylation 1U (CDG1U) [MIM:615042]
Q9P2X0 non-pleiotropic VAR_062518 p.Leu85Ser Disease - - Congenital disorder of glycosylation 1O (CDG1O) [MIM:612937]
Q14117 non-pleiotropic VAR_002269 p.Trp360Arg Disease rs121964924 0.0002 Dihydropyrimidinase deficiency (DHPD) [MIM:222748]
Q14117 non-pleiotropic VAR_002270 p.Gly435Arg Disease - - Dihydropyrimidinase deficiency (DHPD) [MIM:222748]
Q14117 non-pleiotropic VAR_002267 p.Thr68Arg Disease - - Dihydropyrimidinase deficiency (DHPD) [MIM:222748]
Q14117 non-pleiotropic VAR_002268 p.Gln334Arg Disease rs121964923 0.0006 Dihydropyrimidinase deficiency (DHPD) [MIM:222748]
Q14117 non-pleiotropic VAR_002271 p.Arg490Thr Disease - - Dihydropyrimidinase deficiency (DHPD) [MIM:222748]
Q9UL01 non-pleiotropic VAR_034481 p.Thr25Ile Non-Disease rs10485183 0.1653 -
Q9UL01 non-pleiotropic VAR_070911 p.Ser268Leu Disease - - Ehlers-Danlos syndrome, musculocontractural type 2 (EDSMC2) [MIM:615539]
Q9UL01 non-pleiotropic VAR_053834 p.Ile282Val Non-Disease rs34994230 0.0165 -
Q9UL01 non-pleiotropic VAR_053833 p.Pro34Leu Non-Disease rs35548455 0.028 -
P15924 pleiotropic VAR_033862 p.Ile305Phe Non-Disease rs17604693 0.0174 -
P15924 pleiotropic VAR_023815 p.Arg1738Gln Non-Disease rs6929069 0.2218 -
P15924 pleiotropic VAR_023816 p.Arg1775Ile Disease rs34738426 0.0002 Arrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8) [MIM:607450]
P15924 pleiotropic VAR_020468 p.Tyr1512Cys Non-Disease rs2076299 0.1827 -
P15924 pleiotropic VAR_065696 p.Arg1537Cys Non-Disease rs28763967 0.0055 -
P15924 pleiotropic VAR_023814 p.Arg1255Lys Disease - - Arrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8) [MIM:607450]
P15924 pleiotropic VAR_065697 p.Glu1833Val Non-Disease rs78652302 0.0083 -
P15924 pleiotropic VAR_065695 p.Asn1526Lys Non-Disease rs28763966 0.0432 -
P15924 pleiotropic VAR_015402 p.Ser299Arg Disease rs121912992 0.0004 Arrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8) [MIM:607450]
P15924 pleiotropic VAR_015570 p.Arg2366Cys Disease rs28931610 - Skin fragility-woolly hair syndrome (SFWHS) [MIM:607655]
P15924 pleiotropic VAR_015569 p.Asn287Lys Disease - - Skin fragility-woolly hair syndrome (SFWHS) [MIM:607655]
P15924 pleiotropic VAR_065694 p.Ala1505Val Non-Disease - - -
P15924 pleiotropic VAR_065693 p.Ile445Val Disease - - Arrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8) [MIM:607450]
Q9Y4J8 non-pleiotropic VAR_026744 p.Pro121Leu Disease - - Left ventricular non-compaction 1 (LVNC1) [MIM:604169]
Q9Y4J8 non-pleiotropic VAR_055320 p.Ala180Glu Non-Disease rs1048081 - -
Q9NRD8 non-pleiotropic VAR_064619 p.Gly1518Ser Disease - - Thyroid dyshormonogenesis 6 (TDH6) [MIM:607200]
Q9NRD8 non-pleiotropic VAR_061177 p.His678Arg Non-Disease rs57659670 0.1501 -
Q9NRD8 non-pleiotropic VAR_025324 p.Pro138Leu Non-Disease rs2001616 0.219 -
Q9NRD8 non-pleiotropic VAR_025323 p.Gln36His Disease - - Thyroid dyshormonogenesis 6 (TDH6) [MIM:607200]
Q9NRD8 non-pleiotropic VAR_047075 p.Ser1067Leu Non-Disease rs269868 0.2452 -
Q9NRD8 non-pleiotropic VAR_025325 p.Arg376Trp Disease - - Thyroid dyshormonogenesis 6 (TDH6) [MIM:607200]
Q16828 non-pleiotropic VAR_069943 p.Phe77Ile Disease - - Hypogonadotropic hypogonadism 19 with or without anosmia (HH19) [MIM:615269]
Q16828 non-pleiotropic VAR_069946 p.Thr346Met Disease rs146089505 0.0002 Hypogonadotropic hypogonadism 19 with or without anosmia (HH19) [MIM:615269]
Q16828 non-pleiotropic VAR_051751 p.Asn313Ile Non-Disease rs12828557 0.0002 -
Q16828 non-pleiotropic VAR_015113 p.Val114Leu Non-Disease rs2279574 0.4922 -
Q16828 non-pleiotropic VAR_069944 p.Ser182Phe Disease - - Hypogonadotropic hypogonadism 19 with or without anosmia (HH19) [MIM:615269]