Found 7392 SAVs (36.7 %)from pleiotropic protein and 12743 SAVs (63.3 %) from non-pleiotropic protein.
15222 disease SAVs (75.6 %) and 4913 non-disease (24.4 %).
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] |