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 184 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P26439 | non-pleiotropic | VAR_010526 | p.Leu173Arg | Disease | - | - | Adrenal hyperplasia 2 (AH2) [MIM:201810] |
P26439 | non-pleiotropic | VAR_010533 | p.Leu236Ser | Disease | rs35887327 | 0.0124 | Adrenal hyperplasia 2 (AH2) [MIM:201810] |
P26439 | non-pleiotropic | VAR_010534 | p.Thr259Met | Disease | - | - | Adrenal hyperplasia 2 (AH2) [MIM:201810] |
P26439 | non-pleiotropic | VAR_010523 | p.Gly129Arg | Disease | - | - | Adrenal hyperplasia 2 (AH2) [MIM:201810] |
P26439 | non-pleiotropic | VAR_000008 | p.Ala245Pro | Disease | - | - | Adrenal hyperplasia 2 (AH2) [MIM:201810] |
P26439 | non-pleiotropic | VAR_065665 | p.Pro341Leu | Disease | - | - | Adrenal hyperplasia 2 (AH2) [MIM:201810] |
P26439 | non-pleiotropic | VAR_014818 | p.Glu94Gln | Non-Disease | rs6211 | 0.0018 | - |
P26439 | non-pleiotropic | VAR_010524 | p.Pro155Leu | Disease | - | - | Adrenal hyperplasia 2 (AH2) [MIM:201810] |
P26439 | non-pleiotropic | VAR_010531 | p.Pro222Gln | Disease | - | - | Adrenal hyperplasia 2 (AH2) [MIM:201810] |
P26439 | non-pleiotropic | VAR_010528 | p.Ser213Gly | Disease | - | - | Adrenal hyperplasia 2 (AH2) [MIM:201810] |
P26439 | non-pleiotropic | VAR_010522 | p.Leu108Trp | Disease | - | - | Adrenal hyperplasia 2 (AH2) [MIM:201810] |
P26439 | non-pleiotropic | VAR_010517 | p.Ala10Glu | Disease | rs28934880 | - | Adrenal hyperplasia 2 (AH2) [MIM:201810] |
P26439 | non-pleiotropic | VAR_000011 | p.Thr259Arg | Disease | - | - | Adrenal hyperplasia 2 (AH2) [MIM:201810] |
P26439 | non-pleiotropic | VAR_048099 | p.Asp74Asn | Non-Disease | rs4986954 | 0.0018 | - |
P26439 | non-pleiotropic | VAR_010535 | p.Gly294Val | Disease | - | - | Adrenal hyperplasia 2 (AH2) [MIM:201810] |
P26439 | non-pleiotropic | VAR_010525 | p.Ala167Val | Disease | rs35486059 | 0.0006 | Adrenal hyperplasia 2 (AH2) [MIM:201810] |
P26439 | non-pleiotropic | VAR_010518 | p.Ala10Val | Disease | - | - | Adrenal hyperplasia 2 (AH2) [MIM:201810] |
P26439 | non-pleiotropic | VAR_010520 | p.Ala82Thr | Disease | - | - | Adrenal hyperplasia 2 (AH2) [MIM:201810] |
P26439 | non-pleiotropic | VAR_010521 | p.Asn100Ser | Disease | - | - | Adrenal hyperplasia 2 (AH2) [MIM:201810] |
P26439 | non-pleiotropic | VAR_010527 | p.Pro186Leu | Disease | - | - | Adrenal hyperplasia 2 (AH2) [MIM:201810] |
Q9H2F3 | non-pleiotropic | VAR_054776 | p.Glu147Lys | Disease | - | - | Congenital bile acid synthesis defect 1 (CBAS1) [MIM:607765] |
Q9H2F3 | non-pleiotropic | VAR_054775 | p.Gly19Ser | Disease | - | - | Congenital bile acid synthesis defect 1 (CBAS1) [MIM:607765] |
Q9H2F3 | non-pleiotropic | VAR_048100 | p.Leu347Pro | Non-Disease | rs34212827 | 0.0753 | - |
Q9H2F3 | non-pleiotropic | VAR_031040 | p.Thr250Ala | Non-Disease | rs9938550 | 0.3765 | - |
Q9ULV5 | non-pleiotropic | VAR_017559 | p.Ile86Val | Disease | - | - | Cataract 5, multiple types (CTRCT5) [MIM:116800] |
Q9ULV5 | non-pleiotropic | VAR_017560 | p.Leu114Pro | Disease | - | - | Cataract 5, multiple types (CTRCT5) [MIM:116800] |
Q9ULV5 | non-pleiotropic | VAR_017561 | p.Arg119Cys | Disease | rs28937573 | - | Cataract 5, multiple types (CTRCT5) [MIM:116800] |
Q9ULV5 | non-pleiotropic | VAR_017558 | p.Ala19Asp | Disease | - | - | Cataract 5, multiple types (CTRCT5) [MIM:116800] |
Q9ULV5 | non-pleiotropic | VAR_029018 | p.Arg73His | Disease | - | - | Cataract 5, multiple types (CTRCT5) [MIM:116800] |
P04792 | pleiotropic | VAR_018509 | p.Thr151Ile | Disease | - | - | Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634] |
P04792 | pleiotropic | VAR_067085 | p.Thr164Ala | Disease | - | - | Charcot-Marie-Tooth disease 2F (CMT2F) [MIM:606595] |
P04792 | pleiotropic | VAR_018507 | p.Ser135Phe | Disease | - | - | Charcot-Marie-Tooth disease 2F (CMT2F) [MIM:606595] Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634] |
P04792 | pleiotropic | VAR_018508 | p.Arg136Trp | Disease | - | - | Charcot-Marie-Tooth disease 2F (CMT2F) [MIM:606595] |
P04792 | pleiotropic | VAR_018510 | p.Pro182Leu | Disease | - | - | Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634] |
P04792 | pleiotropic | VAR_018506 | p.Arg127Trp | Disease | - | - | Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634] |
Q12988 | non-pleiotropic | VAR_061271 | p.Gly67Ser | Non-Disease | rs35258119 | 0.0055 | - |
Q12988 | non-pleiotropic | VAR_063773 | p.Arg7Ser | Disease | - | - | Neuronopathy, distal hereditary motor, 2C (HMN2C) [MIM:613376] |
Q9UJY1 | pleiotropic | VAR_018505 | p.Lys141Asn | Disease | - | - | Charcot-Marie-Tooth disease 2L (CMT2L) [MIM:608673] Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590] |
Q9UJY1 | pleiotropic | VAR_042245 | p.Arg78Met | Non-Disease | rs55826713 | 0.0002 | - |
Q9UJY1 | pleiotropic | VAR_018504 | p.Lys141Glu | Disease | - | - | Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590] |
P10809 | pleiotropic | VAR_054785 | p.Asp29Gly | Disease | - | - | Leukodystrophy, hypomyelinating, 4 (HLD4) [MIM:612233] |
P10809 | pleiotropic | VAR_026748 | p.Val98Ile | Disease | - | - | Spastic paraplegia 13, autosomal dominant (SPG13) [MIM:605280] |
O43464 | non-pleiotropic | VAR_027349 | p.Ala141Ser | Non-Disease | rs72470544 | 0.0156 | - |
O43464 | non-pleiotropic | VAR_027350 | p.Gly399Ser | Disease | rs72470545 | 0.0036 | Parkinson disease 13 (PARK13) [MIM:610297] |
O43464 | non-pleiotropic | VAR_046134 | p.Leu72Pro | Non-Disease | rs150047108 | 0.0014 | - |
Q12794 | non-pleiotropic | VAR_023643 | p.Glu268Lys | Disease | - | - | Mucopolysaccharidosis 9 (MPS9) [MIM:601492] |
Q96M11 | non-pleiotropic | VAR_031867 | p.Asp211Gly | Disease | rs104894232 | 0.0006 | Hydrolethalus syndrome 1 (HLS1) [MIM:236680] |
Q96M11 | non-pleiotropic | VAR_031866 | p.Cys31Arg | Non-Disease | rs667782 | 0.298 | - |
Q5T440 | non-pleiotropic | VAR_030794 | p.Gly211Ser | Non-Disease | rs2298014 | 0.1841 | - |
Q5T440 | non-pleiotropic | VAR_069821 | p.Gln314Pro | Disease | - | - | Multiple mitochondrial dysfunctions syndrome 3 (MMDS3) [MIM:615330] |