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 64 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q4KMG0 | non-pleiotropic | VAR_056041 | p.Ala686Val | Non-Disease | rs12274923 | 0.1263 | - |
Q4KMG0 | non-pleiotropic | VAR_066501 | p.Thr790Ala | Disease | - | - | Holoprosencephaly 11 (HPE11) [MIM:614226] |
Q4KMG0 | non-pleiotropic | VAR_056040 | p.Pro351Ala | Non-Disease | rs35665264 | 0.0119 | - |
Q4KMG0 | non-pleiotropic | VAR_066498 | p.Pro689Ala | Disease | - | - | Holoprosencephaly 11 (HPE11) [MIM:614226] |
Q4KMG0 | non-pleiotropic | VAR_066497 | p.Thr684Ser | Disease | rs145983470 | 0.0018 | Holoprosencephaly 11 (HPE11) [MIM:614226] |
Q9H211 | non-pleiotropic | VAR_065492 | p.Glu468Lys | Disease | - | - | Meier-Gorlin syndrome 4 (MGORS4) [MIM:613804] |
Q9H211 | non-pleiotropic | VAR_065490 | p.Arg453Trp | Disease | - | - | Meier-Gorlin syndrome 4 (MGORS4) [MIM:613804] |
Q9H211 | non-pleiotropic | VAR_065488 | p.Ala66Thr | Disease | - | - | Meier-Gorlin syndrome 4 (MGORS4) [MIM:613804] |
Q9H211 | non-pleiotropic | VAR_024408 | p.Ala537Val | Non-Disease | rs3218721 | 0.0165 | - |
Q9H211 | non-pleiotropic | VAR_065489 | p.Gln117His | Disease | - | - | Meier-Gorlin syndrome 4 (MGORS4) [MIM:613804] |
Q9H211 | non-pleiotropic | VAR_054505 | p.Thr262Ala | Non-Disease | rs480727 | 0.4334 | - |
Q9H211 | non-pleiotropic | VAR_065491 | p.Arg462Gln | Disease | - | - | Meier-Gorlin syndrome 4 (MGORS4) [MIM:613804] |
Q9H211 | non-pleiotropic | VAR_029165 | p.Glu456Ala | Non-Disease | rs3218729 | 0.0073 | - |
Q9H211 | non-pleiotropic | VAR_029163 | p.Ala135Val | Non-Disease | rs3218725 | 0.0041 | - |
Q9H211 | non-pleiotropic | VAR_029164 | p.Arg172Cys | Non-Disease | rs3218727 | 0.0016 | - |
Q9H211 | non-pleiotropic | VAR_054504 | p.Cys234Arg | Non-Disease | rs507329 | 0.0005 | - |
Q2WEN9 | non-pleiotropic | VAR_067769 | p.Thr140Pro | Disease | - | - | Deafness, autosomal dominant, 4B (DFNA4B) [MIM:614614] |
Q9NYQ6 | non-pleiotropic | VAR_049465 | p.Val1242Ile | Non-Disease | rs6008842 | 0.0422 | - |
Q9NYQ6 | non-pleiotropic | VAR_049464 | p.Ile587Val | Non-Disease | rs34141466 | 0.0138 | - |
Q9NYQ6 | non-pleiotropic | VAR_067217 | p.Ser2964Leu | Disease | rs6008777 | 0.0232 | Neural tube defects (NTD) [MIM:182940] |
Q9NYQ6 | non-pleiotropic | VAR_024480 | p.Thr2268Ala | Non-Disease | rs6007897 | 0.2227 | - |
Q9NYQ6 | non-pleiotropic | VAR_049468 | p.Leu1995Pro | Non-Disease | rs6008794 | 0.2456 | - |
Q9NYQ6 | non-pleiotropic | VAR_016095 | p.Cys1126Arg | Non-Disease | rs4823561 | 0.0422 | - |
Q9NYQ6 | non-pleiotropic | VAR_049467 | p.Leu1994Pro | Non-Disease | rs6008795 | 0.1772 | - |
Q9NYQ6 | non-pleiotropic | VAR_067214 | p.Arg2312Pro | Non-Disease | rs7287089 | 0.0147 | - |
Q9NYQ6 | non-pleiotropic | VAR_049471 | p.Cys2797Ser | Non-Disease | rs12165943 | 0.2929 | - |
Q9NYQ6 | non-pleiotropic | VAR_024479 | p.Ile2107Val | Non-Disease | rs4044210 | 0.2475 | - |
Q9NYQ6 | non-pleiotropic | VAR_049472 | p.Glu2903Gln | Non-Disease | rs9615351 | 0.2355 | - |
Q9NYQ6 | non-pleiotropic | VAR_049473 | p.Gly2948Ser | Non-Disease | rs35364389 | 0.1781 | - |
Q9NYQ6 | non-pleiotropic | VAR_049469 | p.Thr2045Met | Non-Disease | rs12169391 | 0.0101 | - |
Q9NYQ6 | non-pleiotropic | VAR_067213 | p.Ala773Val | Disease | rs12170597 | 0.0054 | Neural tube defects (NTD) [MIM:182940] |
Q9NYQ6 | non-pleiotropic | VAR_049470 | p.Arg2219His | Non-Disease | rs34267201 | 0.0294 | - |
Q9NYQ6 | non-pleiotropic | VAR_016094 | p.Ser664Trp | Non-Disease | rs4823850 | 0.095 | - |
Q9NYQ6 | non-pleiotropic | VAR_067218 | p.Pro2983Ala | Disease | rs61741871 | 0.0317 | Neural tube defects (NTD) [MIM:182940] |
Q9NYQ6 | non-pleiotropic | VAR_049466 | p.Tyr1894His | Non-Disease | rs34467708 | 0.0248 | - |
Q9NYQ6 | non-pleiotropic | VAR_067215 | p.Arg2438Gln | Disease | rs199688538 | 0.0004 | Neural tube defects (NTD) [MIM:182940] |
O94986 | pleiotropic | VAR_047932 | p.Ser54Leu | Non-Disease | rs2289181 | 0.0657 | - |
O94986 | pleiotropic | VAR_065258 | p.Lys667Arg | Disease | rs200879436 | 0.0034 | Seckel syndrome 5 (SCKL5) [MIM:613823] |
O94986 | pleiotropic | VAR_063813 | p.Gln265Pro | Disease | - | - | Microcephaly 9, primary, autosomal recessive (MCPH9) [MIM:614852] |
O94986 | pleiotropic | VAR_050781 | p.Val1106Ala | Non-Disease | rs16961557 | 0.0317 | - |
O94986 | pleiotropic | VAR_050779 | p.Ser793Ile | Non-Disease | rs2289178 | 0.0523 | - |
O94986 | pleiotropic | VAR_050780 | p.Leu914Val | Non-Disease | rs16961560 | 0.0597 | - |
Q9UPV0 | non-pleiotropic | VAR_037512 | p.Thr988Ser | Non-Disease | rs2305830 | 0.2916 | - |
Q9UPV0 | non-pleiotropic | VAR_068503 | p.Gln11Pro | Disease | - | - | Nephronophthisis 15 (NPHP15) [MIM:614845] |
Q9UPV0 | non-pleiotropic | VAR_037511 | p.Ser94Asn | Non-Disease | rs490262 | 0.1919 | - |
Q9UPV0 | non-pleiotropic | VAR_068504 | p.Arg93Trp | Disease | - | - | Nephronophthisis 15 (NPHP15) [MIM:614845] |
Q9UPV0 | non-pleiotropic | VAR_037513 | p.Gln1119Arg | Non-Disease | rs573455 | 0.4637 | - |
Q49MI3 | non-pleiotropic | VAR_053688 | p.Leu232Phe | Non-Disease | rs10185262 | 0.0055 | - |
Q49MI3 | non-pleiotropic | VAR_053689 | p.Glu514Gly | Non-Disease | rs35955809 | 0.0073 | - |
Q49MI3 | non-pleiotropic | VAR_065182 | p.Arg106Ser | Disease | - | - | Retinitis pigmentosa 26 (RP26) [MIM:608380] |