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 206 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q9UH77 | non-pleiotropic | VAR_067522 | p.Ser433Asn | Disease | - | - | Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] |
Q9UH77 | non-pleiotropic | VAR_067505 | p.Arg228Gly | Disease | - | - | Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] |
Q9UH77 | non-pleiotropic | VAR_067524 | p.Ala494Thr | Disease | - | - | Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] |
Q9UH77 | non-pleiotropic | VAR_067526 | p.Pro501Thr | Disease | - | - | Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] |
Q9UH77 | non-pleiotropic | VAR_067525 | p.Gly500Val | Disease | - | - | Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] |
Q9UH77 | non-pleiotropic | VAR_067515 | p.Ala398Val | Disease | - | - | Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] |
Q9UH77 | non-pleiotropic | VAR_067512 | p.Arg384Gln | Disease | - | - | Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] |
Q9UH77 | non-pleiotropic | VAR_067518 | p.Met427Thr | Disease | - | - | Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] |
Q9UH77 | non-pleiotropic | VAR_067520 | p.Ser432Asn | Disease | - | - | Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] |
Q9UH77 | non-pleiotropic | VAR_067503 | p.Glu85Ala | Disease | - | - | Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] |
Q9UH77 | non-pleiotropic | VAR_067501 | p.Ala77Glu | Disease | - | - | Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] |
Q2TBA0 | non-pleiotropic | VAR_069836 | p.Asp34His | Disease | - | - | Nemaline myopathy 8 (NEM8) [MIM:615348] |
Q2TBA0 | non-pleiotropic | VAR_030215 | p.Cys617Arg | Non-Disease | rs123509 | 0.1171 | - |
Q2TBA0 | non-pleiotropic | VAR_069841 | p.Pro397Leu | Disease | - | - | Nemaline myopathy 8 (NEM8) [MIM:615348] |
Q2TBA0 | non-pleiotropic | VAR_030214 | p.Asn345Ser | Non-Disease | rs6805421 | 0.3545 | - |
Q2TBA0 | non-pleiotropic | VAR_069846 | p.Ala538Pro | Disease | - | - | Nemaline myopathy 8 (NEM8) [MIM:615348] |
Q2TBA0 | non-pleiotropic | VAR_069840 | p.Arg311Leu | Disease | - | - | Nemaline myopathy 8 (NEM8) [MIM:615348] |
Q2TBA0 | non-pleiotropic | VAR_069845 | p.Glu528Lys | Disease | - | - | Nemaline myopathy 8 (NEM8) [MIM:615348] |
Q2TBA0 | non-pleiotropic | VAR_069837 | p.Leu86Pro | Disease | - | - | Nemaline myopathy 8 (NEM8) [MIM:615348] |
Q2TBA0 | non-pleiotropic | VAR_069843 | p.Gly469Cys | Disease | - | - | Nemaline myopathy 8 (NEM8) [MIM:615348] |
Q2TBA0 | non-pleiotropic | VAR_069847 | p.Glu588Lys | Disease | - | - | Nemaline myopathy 8 (NEM8) [MIM:615348] |
Q2TBA0 | non-pleiotropic | VAR_069842 | p.His455Arg | Disease | - | - | Nemaline myopathy 8 (NEM8) [MIM:615348] |
Q2TBA0 | non-pleiotropic | VAR_069844 | p.Thr506Pro | Disease | - | - | Nemaline myopathy 8 (NEM8) [MIM:615348] |
Q2TBA0 | non-pleiotropic | VAR_069839 | p.Trp201Leu | Disease | - | - | Nemaline myopathy 8 (NEM8) [MIM:615348] |
Q2TBA0 | non-pleiotropic | VAR_069838 | p.Val194Glu | Disease | - | - | Nemaline myopathy 8 (NEM8) [MIM:615348] |
Q8IXQ5 | non-pleiotropic | VAR_060674 | p.Ala153Val | Disease | - | - | Retinitis pigmentosa 42 (RP42) [MIM:612943] |
Q8IXQ5 | non-pleiotropic | VAR_060673 | p.Ala153Thr | Disease | - | - | Retinitis pigmentosa 42 (RP42) [MIM:612943] |
Q8IXQ5 | non-pleiotropic | VAR_060676 | p.His423Tyr | Non-Disease | - | - | - |
Q8IXQ5 | non-pleiotropic | VAR_060672 | p.Ser150Asn | Disease | - | - | Retinitis pigmentosa 42 (RP42) [MIM:612943] |
P03952 | non-pleiotropic | VAR_013598 | p.Asn143Ser | Disease | rs3733402 | 0.3954 | Prekallikrein deficiency (PKK deficiency) [MIM:612423] |
P03952 | non-pleiotropic | VAR_013600 | p.His208Pro | Non-Disease | - | - | - |
P03952 | non-pleiotropic | VAR_016284 | p.Ser381Ala | Non-Disease | rs4253301 | 0.0937 | - |
P03952 | non-pleiotropic | VAR_013599 | p.His202Gln | Non-Disease | rs4253373 | 0.0037 | - |
P03952 | non-pleiotropic | VAR_016282 | p.Phe311Val | Non-Disease | rs4253377 | 0.0161 | - |
P03952 | non-pleiotropic | VAR_016280 | p.Ala178Thr | Non-Disease | rs4253257 | 0.0002 | - |
P03952 | non-pleiotropic | VAR_016286 | p.Arg560Gln | Non-Disease | rs4253325 | 0.2117 | - |
P03952 | non-pleiotropic | VAR_054907 | p.Gly123Arg | Disease | - | - | Prekallikrein deficiency (PKK deficiency) [MIM:612423] |
P03952 | non-pleiotropic | VAR_016283 | p.Thr358Ala | Non-Disease | rs4253379 | 0.0092 | - |
P03952 | non-pleiotropic | VAR_020180 | p.Ala210Glu | Non-Disease | rs2278542 | 0.0142 | - |
P03952 | non-pleiotropic | VAR_016285 | p.Gln442Pro | Non-Disease | rs4253316 | 0.0028 | - |
P03952 | non-pleiotropic | VAR_016281 | p.Ser269Cys | Non-Disease | rs4253376 | 0.0037 | - |
P03952 | non-pleiotropic | VAR_054908 | p.Cys548Tyr | Disease | - | - | Prekallikrein deficiency (PKK deficiency) [MIM:612423] |
P01116 | pleiotropic | VAR_026111 | p.Thr58Ile | Disease | - | - | Noonan syndrome 3 (NS3) [MIM:609942] |
P01116 | pleiotropic | VAR_069784 | p.Tyr71His | Disease | - | - | Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278] |
P01116 | pleiotropic | VAR_065144 | p.Lys5Glu | Disease | - | - | Noonan syndrome 3 (NS3) [MIM:609942] |
P01116 | pleiotropic | VAR_016028 | p.Gly12Ser | Disease | - | - | Gastric cancer (GASC) [MIM:613659] |
P01116 | pleiotropic | VAR_016030 | p.Ala59Thr | Disease | - | - | Gastric cancer (GASC) [MIM:613659] |
P01116 | pleiotropic | VAR_026109 | p.Val14Ile | Disease | - | - | Noonan syndrome 3 (NS3) [MIM:609942] |
P01116 | pleiotropic | VAR_016026 | p.Gly12Asp | Disease | - | - | Gastric cancer (GASC) [MIM:613659] |
P01116 | pleiotropic | VAR_064852 | p.Pro34Leu | Disease | - | - | Noonan syndrome 3 (NS3) [MIM:609942] |