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 45 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q00973 | non-pleiotropic | VAR_070235 | p.Arg300Cys | Disease | - | - | Spastic paraplegia 26, autosomal recessive (SPG26) [MIM:609195] |
Q00973 | non-pleiotropic | VAR_070236 | p.Asp433Ala | Disease | - | - | Spastic paraplegia 26, autosomal recessive (SPG26) [MIM:609195] |
Q00973 | non-pleiotropic | VAR_049237 | p.Ala516Val | Non-Disease | rs17454674 | 0.0051 | - |
Q00973 | non-pleiotropic | VAR_012052 | p.Leu35Val | Non-Disease | rs774896 | 0.247 | - |
Q9UBV7 | non-pleiotropic | VAR_010294 | p.Leu206Pro | Disease | - | - | Ehlers-Danlos syndrome, progeroid type, 1 (EDSP1) [MIM:130070] |
Q9UBV7 | non-pleiotropic | VAR_010293 | p.Ala186Asp | Disease | - | - | Ehlers-Danlos syndrome, progeroid type, 1 (EDSP1) [MIM:130070] |
Q9BPU9 | non-pleiotropic | VAR_066996 | p.Ile11Met | Non-Disease | rs2241714 | 0.3489 | - |
Q9BPU9 | non-pleiotropic | VAR_036626 | p.Ser101Arg | Disease | - | - | Meckel syndrome 10 (MKS10) [MIM:614175] |
Q14032 | non-pleiotropic | VAR_052303 | p.Arg20Gln | Non-Disease | rs1572983 | 0.3829 | - |
Q14032 | non-pleiotropic | VAR_023737 | p.Met76Val | Disease | rs28937579 | - | Familial hypercholanemia (FHCA) [MIM:607748] |
O95817 | pleiotropic | VAR_066784 | p.Pro380Ser | Non-Disease | rs144692954 | 0.0032 | - |
O95817 | pleiotropic | VAR_066779 | p.Pro115Ser | Non-Disease | - | - | - |
O95817 | pleiotropic | VAR_066780 | p.Ala155Thr | Non-Disease | rs61756328 | 0.0018 | - |
O95817 | pleiotropic | VAR_066781 | p.Arg218Trp | Disease | - | - | Cardiomyopathy, dilated 1HH (CMD1HH) [MIM:613881] |
O95817 | pleiotropic | VAR_066788 | p.Glu553Asp | Non-Disease | - | - | - |
O95817 | pleiotropic | VAR_048347 | p.Pro407Leu | Non-Disease | rs3858340 | 0.1552 | - |
O95817 | pleiotropic | VAR_066786 | p.Leu462Pro | Disease | - | - | Cardiomyopathy, dilated 1HH (CMD1HH) [MIM:613881] |
O95817 | pleiotropic | VAR_066777 | p.Pro77Leu | Non-Disease | rs141355480 | 0.0005 | - |
O95817 | pleiotropic | VAR_048346 | p.Ala405Val | Non-Disease | rs11199064 | - | - |
O95817 | pleiotropic | VAR_063089 | p.Pro209Leu | Disease | rs121918312 | - | Myopathy, myofibrillar, 6 (MFM6) [MIM:612954] |
O95817 | pleiotropic | VAR_048344 | p.Arg71Gln | Non-Disease | rs35434411 | 0.0129 | - |
O95817 | pleiotropic | VAR_065479 | p.Arg71Trp | Disease | - | - | Cardiomyopathy, dilated 1HH (CMD1HH) [MIM:613881] |
O95817 | pleiotropic | VAR_066787 | p.Val468Met | Disease | - | - | Cardiomyopathy, dilated 1HH (CMD1HH) [MIM:613881] |
O95817 | pleiotropic | VAR_066782 | p.Arg258Trp | Non-Disease | rs117671123 | 0.0046 | - |
O95817 | pleiotropic | VAR_066778 | p.Ile94Phe | Non-Disease | rs145393807 | 0.0009 | - |
O95817 | pleiotropic | VAR_048345 | p.Cys151Arg | Non-Disease | rs2234962 | 0.0996 | - |
O95817 | pleiotropic | VAR_066783 | p.Asp300Asn | Non-Disease | rs78439745 | 0.0018 | - |
O95817 | pleiotropic | VAR_065480 | p.Arg477His | Disease | - | - | Cardiomyopathy, dilated 1HH (CMD1HH) [MIM:613881] |
O95817 | pleiotropic | VAR_066785 | p.Glu455Lys | Disease | - | - | Cardiomyopathy, dilated 1HH (CMD1HH) [MIM:613881] |
O75531 | non-pleiotropic | VAR_065954 | p.Ala12Thr | Disease | - | - | Nestor-Guillermo progeria syndrome (NGPS) [MIM:614008] |
Q8NFJ9 | non-pleiotropic | VAR_017215 | p.Glu234Lys | Disease | rs35520756 | 0.0284 | Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] |
Q8NFJ9 | non-pleiotropic | VAR_038886 | p.Tyr434Ser | Disease | - | - | Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] |
Q8NFJ9 | non-pleiotropic | VAR_038883 | p.Arg160Gln | Disease | - | - | Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] |
Q8NFJ9 | non-pleiotropic | VAR_038884 | p.Gly305Ser | Disease | - | - | Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] |
Q8NFJ9 | non-pleiotropic | VAR_017217 | p.Leu518Pro | Disease | - | - | Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] |
Q8NFJ9 | non-pleiotropic | VAR_038882 | p.Asp148Asn | Disease | rs200688985 | 0.0012 | Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] |
Q8NFJ9 | non-pleiotropic | VAR_038880 | p.His35Arg | Disease | - | - | Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] |
Q8NFJ9 | non-pleiotropic | VAR_017216 | p.Met390Arg | Disease | rs113624356 | 0.001 | Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] |
Q8NFJ9 | non-pleiotropic | VAR_066485 | p.Leu206Val | Non-Disease | rs146052054 | 0.0005 | - |
Q8NFJ9 | non-pleiotropic | VAR_038881 | p.Lys53Glu | Disease | - | - | Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] |
Q8NFJ9 | non-pleiotropic | VAR_038887 | p.Leu503His | Disease | - | - | Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] |
Q8NFJ9 | non-pleiotropic | VAR_038888 | p.Leu518Gln | Disease | - | - | Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] |
Q8NFJ9 | non-pleiotropic | VAR_066278 | p.Ile330Thr | Disease | - | - | Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] |
Q8TAM1 | non-pleiotropic | VAR_026391 | p.Arg34Pro | Disease | - | - | Bardet-Biedl syndrome 10 (BBS10) [MIM:209900] |
Q8TAM1 | non-pleiotropic | VAR_026405 | p.Tyr613Cys | Disease | - | - | Bardet-Biedl syndrome 10 (BBS10) [MIM:209900] |
Q8TAM1 | non-pleiotropic | VAR_066256 | p.Ala296Thr | Non-Disease | rs150587582 | 0.0005 | - |
Q8TAM1 | non-pleiotropic | VAR_026408 | p.Thr689Pro | Disease | - | - | Bardet-Biedl syndrome 10 (BBS10) [MIM:209900] |
Q8TAM1 | non-pleiotropic | VAR_026400 | p.Ser329Leu | Disease | - | - | Bardet-Biedl syndrome 10 (BBS10) [MIM:209900] |
Q8TAM1 | non-pleiotropic | VAR_066260 | p.Leu687Pro | Disease | - | - | Bardet-Biedl syndrome 10 (BBS10) [MIM:209900] |
Q8TAM1 | non-pleiotropic | VAR_026406 | p.Tyr613His | Disease | rs141647931 | 0.0004 | Bardet-Biedl syndrome 10 (BBS10) [MIM:209900] |