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 183 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P80365 non-pleiotropic VAR_015636 p.Ser180Phe Disease - - Apparent mineralocorticoid excess (AME) [MIM:218030]
P80365 non-pleiotropic VAR_015640 p.Ala237Val Disease - - Apparent mineralocorticoid excess (AME) [MIM:218030]
P80365 non-pleiotropic VAR_066515 p.Arg337Cys Disease - - Apparent mineralocorticoid excess (AME) [MIM:218030]
P80365 non-pleiotropic VAR_052317 p.Arg147His Non-Disease rs13306425 0.0009 -
P80365 non-pleiotropic VAR_015638 p.Arg208His Disease - - Apparent mineralocorticoid excess (AME) [MIM:218030]
P80365 non-pleiotropic VAR_015646 p.Tyr338His Disease - - Apparent mineralocorticoid excess (AME) [MIM:218030]
P80365 non-pleiotropic VAR_015642 p.Leu250Arg Disease - - Apparent mineralocorticoid excess (AME) [MIM:218030]
P80365 non-pleiotropic VAR_015635 p.Leu179Arg Disease - - Apparent mineralocorticoid excess (AME) [MIM:218030]
P37058 non-pleiotropic VAR_006954 p.Arg80Trp Disease - - Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
P37058 non-pleiotropic VAR_016071 p.Val205Glu Disease - - Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
P37058 non-pleiotropic VAR_014871 p.Gly289Ser Non-Disease rs2066479 0.1171 -
P37058 non-pleiotropic VAR_016203 p.Glu215Asp Disease - - Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
P37058 non-pleiotropic VAR_061844 p.Gly289Cys Non-Disease rs2066479 0.119 -
P37058 non-pleiotropic VAR_016069 p.Asn130Ser Disease - - Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
P37058 non-pleiotropic VAR_006955 p.Ala203Val Disease - - Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
P37058 non-pleiotropic VAR_016073 p.Cys268Tyr Disease - - Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
P37058 non-pleiotropic VAR_006953 p.Arg80Gln Disease - - Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
P37058 non-pleiotropic VAR_016070 p.Gln176Pro Disease - - Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
P37058 non-pleiotropic VAR_061845 p.Gly289Arg Non-Disease rs2066479 0.119 -
P37058 non-pleiotropic VAR_016067 p.Ala56Thr Disease - - Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
P37058 non-pleiotropic VAR_014870 p.Val31Ile Non-Disease rs2066480 0.0202 -
P37058 non-pleiotropic VAR_016072 p.Phe208Ile Disease - - Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
P37058 non-pleiotropic VAR_016074 p.Pro282Leu Disease - - Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
P37058 non-pleiotropic VAR_006956 p.Ser232Leu Disease rs28939085 - Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
P37058 non-pleiotropic VAR_006957 p.Met235Val Disease - - Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
P37058 non-pleiotropic VAR_016068 p.Ser65Leu Disease - - Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
P51659 pleiotropic VAR_052311 p.Ala427Val Non-Disease rs28943590 - -
P51659 pleiotropic VAR_065906 p.Arg106Pro Disease rs25640 0.3626 D-bifunctional protein deficiency (DBPD) [MIM:261515]
P51659 pleiotropic VAR_037576 p.Gly16Ser Disease - - D-bifunctional protein deficiency (DBPD) [MIM:261515]
P51659 pleiotropic VAR_065907 p.Tyr217Cys Disease - - Perrault syndrome 1 (PRLTS1) [MIM:233400]
P51659 pleiotropic VAR_052310 p.Lys140Asn Non-Disease rs28943589 0.0234 -
P51659 pleiotropic VAR_014874 p.Ile559Val Non-Disease rs11205 0.4068 -
P51659 pleiotropic VAR_052314 p.Thr687Ile Non-Disease rs28943592 0.0147 -
P51659 pleiotropic VAR_014872 p.Arg106His Non-Disease rs25640 0.3994 -
P51659 pleiotropic VAR_014873 p.Trp511Arg Non-Disease rs11539471 0.1051 -
P51659 pleiotropic VAR_052312 p.Ala491Thr Non-Disease rs28943591 0.0028 -
P51659 pleiotropic VAR_052309 p.Phe90Leu Non-Disease rs28943588 0.0009 -
P51659 pleiotropic VAR_052313 p.Ala606Ser Non-Disease rs15228 - -
P51659 pleiotropic VAR_052315 p.Met728Val Non-Disease rs28943594 0.0308 -
P51659 pleiotropic VAR_024625 p.Thr292Ser Non-Disease rs1143650 0.0161 -
P51659 pleiotropic VAR_065908 p.Asn457Tyr Disease - - D-bifunctional protein deficiency (DBPD) [MIM:261515]
P26439 non-pleiotropic VAR_015411 p.Pro222Thr Disease - - Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439 non-pleiotropic VAR_010529 p.Lys216Glu Disease - - Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439 non-pleiotropic VAR_000006 p.Glu142Lys Disease - - Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439 non-pleiotropic VAR_010519 p.Gly15Asp Disease - - Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439 non-pleiotropic VAR_070028 p.Ala82Pro Disease - - Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439 non-pleiotropic VAR_010530 p.Pro222His Disease - - Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439 non-pleiotropic VAR_000007 p.Leu205Pro Disease - - Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439 non-pleiotropic VAR_000010 p.Tyr254Asp Disease - - Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439 non-pleiotropic VAR_000009 p.Tyr253Asn Disease - - Adrenal hyperplasia 2 (AH2) [MIM:201810]