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 205 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q969F8 pleiotropic VAR_021395 p.Leu364His Non-Disease rs350132 0.2323 -
P10721 pleiotropic VAR_033131 p.Leu656Pro Disease - - Piebald trait (PBT) [MIM:172800]
P10721 pleiotropic VAR_004106 p.Gly664Arg Disease - - Piebald trait (PBT) [MIM:172800]
P10721 pleiotropic VAR_033123 p.Lys550Ile Disease rs28933968 - Gastrointestinal stromal tumor (GIST) [MIM:606764]
P10721 pleiotropic VAR_061289 p.Met541Val Non-Disease rs3822214 0.0645 -
P10721 pleiotropic VAR_033129 p.Phe584Cys Disease rs28933371 - Piebald trait (PBT) [MIM:172800]
P10721 pleiotropic VAR_033132 p.Arg796Gly Disease - - Piebald trait (PBT) [MIM:172800]
P10721 pleiotropic VAR_042023 p.Cys691Ser Non-Disease rs35200131 - -
P10721 pleiotropic VAR_033127 p.Val559Asp Disease - - Gastrointestinal stromal tumor (GIST) [MIM:606764]
P10721 pleiotropic VAR_042021 p.Val532Ile Non-Disease rs55792975 - -
P10721 pleiotropic VAR_042022 p.Met541Leu Non-Disease rs3822214 0.0638 -
P10721 pleiotropic VAR_004107 p.Arg791Gly Disease - - Piebald trait (PBT) [MIM:172800]
P10721 pleiotropic VAR_033130 p.Gly601Arg Disease - - Piebald trait (PBT) [MIM:172800]
P10721 pleiotropic VAR_004105 p.Phe584Leu Disease - - Piebald trait (PBT) [MIM:172800]
P10721 pleiotropic VAR_042024 p.Ser715Asn Non-Disease rs56094246 - -
P10721 pleiotropic VAR_004108 p.Gly812Val Disease - - Piebald trait (PBT) [MIM:172800]
P10721 pleiotropic VAR_004104 p.Glu583Lys Disease - - Piebald trait (PBT) [MIM:172800]
P10721 pleiotropic VAR_033137 p.Thr847Pro Disease - - Piebald trait (PBT) [MIM:172800]
P10721 pleiotropic VAR_033126 p.Val559Ala Disease - - Gastrointestinal stromal tumor (GIST) [MIM:606764]
Q9UEF7 non-pleiotropic VAR_023583 p.Phe45Val Non-Disease rs1052019 - -
Q9UEF7 non-pleiotropic VAR_064554 p.His193Arg Disease - - Tumoral calcinosis, hyperphosphatemic, familial (HFTC) [MIM:211900]
Q9UEF7 non-pleiotropic VAR_023582 p.Pro15Gln Non-Disease rs1052018 - -
Q9UEF7 non-pleiotropic VAR_023584 p.Phe352Val Non-Disease rs9536314 0.1304 -
Q9UEF7 non-pleiotropic VAR_023585 p.Cys370Ser Non-Disease rs9527025 0.1304 -
Q9UEF7 non-pleiotropic VAR_049295 p.Pro514Ser Non-Disease rs3752472 0.0367 -
O14901 non-pleiotropic VAR_031522 p.Gln62Arg Non-Disease rs35927125 0.0634 -
O14901 non-pleiotropic VAR_052717 p.Ser378Phe Non-Disease rs35476458 - -
O14901 non-pleiotropic VAR_031524 p.Ala347Ser Disease - - Maturity-onset diabetes of the young 7 (MODY7) [MIM:610508]
O14901 non-pleiotropic VAR_031523 p.Thr220Met Disease rs34336420 0.0124 Maturity-onset diabetes of the young 7 (MODY7) [MIM:610508]
Q6JEL2 non-pleiotropic VAR_069358 p.Ala313Thr Disease - - Spermatogenic failure 11 (SPGF11) [MIM:615081]
Q6JEL2 non-pleiotropic VAR_069357 p.Gln216Pro Disease - - Spermatogenic failure 11 (SPGF11) [MIM:615081]
Q9UH77 non-pleiotropic VAR_067507 p.Phe322Cys Disease - - Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77 non-pleiotropic VAR_067514 p.Leu387Pro Disease - - Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77 non-pleiotropic VAR_067506 p.Gln309Arg Disease - - Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77 non-pleiotropic VAR_067508 p.Arg336Ile Disease - - Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77 non-pleiotropic VAR_067529 p.Asn529Lys Disease - - Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77 non-pleiotropic VAR_067521 p.Ser433Gly Disease - - Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77 non-pleiotropic VAR_067530 p.Tyr557Cys Disease - - Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77 non-pleiotropic VAR_067519 p.Arg431Gln Disease - - Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77 non-pleiotropic VAR_067527 p.Arg528Cys Disease - - Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77 non-pleiotropic VAR_067509 p.Ala340Val Disease - - Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77 non-pleiotropic VAR_067504 p.Cys164Phe Disease - - Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77 non-pleiotropic VAR_067513 p.Arg384Trp Disease - - Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77 non-pleiotropic VAR_067510 p.Val361Met Disease - - Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77 non-pleiotropic VAR_067528 p.Arg528His Disease - - Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77 non-pleiotropic VAR_067517 p.Pro426Leu Disease - - Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77 non-pleiotropic VAR_067511 p.Arg362Trp Disease rs200892557 0.0002 Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77 non-pleiotropic VAR_067531 p.Arg575Trp Disease - - Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77 non-pleiotropic VAR_067516 p.Ser410Leu Disease - - Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77 non-pleiotropic VAR_067502 p.Met78Val Disease rs199469624 0.0002 Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]