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 23 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q9UM73 | non-pleiotropic | VAR_041478 | p.Val163Leu | Non-Disease | rs55697431 | 0.0009 | - |
Q9UM73 | non-pleiotropic | VAR_063854 | p.Ile1171Asn | Disease | - | - | Neuroblastoma 3 (NBLST3) [MIM:613014] |
Q9UM73 | non-pleiotropic | VAR_041488 | p.Met1328Leu | Non-Disease | rs56160491 | - | - |
Q9UM73 | non-pleiotropic | VAR_041482 | p.Thr680Ile | Non-Disease | rs35228363 | 0.01 | - |
Q9UM73 | non-pleiotropic | VAR_041489 | p.Lys1416Asn | Non-Disease | rs55782189 | - | - |
Q9UM73 | non-pleiotropic | VAR_055988 | p.Pro1599His | Non-Disease | rs1881423 | 0.0005 | - |
Q9UM73 | non-pleiotropic | VAR_063857 | p.Phe1174Leu | Disease | - | - | Neuroblastoma 3 (NBLST3) [MIM:613014] |
Q9UM73 | non-pleiotropic | VAR_063853 | p.Met1166Arg | Disease | - | - | Neuroblastoma 3 (NBLST3) [MIM:613014] |
Q9UM73 | non-pleiotropic | VAR_063866 | p.Tyr1278Ser | Disease | - | - | Neuroblastoma 3 (NBLST3) [MIM:613014] |
Q9UM73 | non-pleiotropic | VAR_041479 | p.Glu296Gln | Non-Disease | rs56077855 | 0.0004 | - |
Q9UM73 | non-pleiotropic | VAR_063859 | p.Arg1192Pro | Disease | - | - | Neuroblastoma 3 (NBLST3) [MIM:613014] |
Q9UM73 | non-pleiotropic | VAR_063851 | p.Gly1128Ala | Disease | - | - | Neuroblastoma 3 (NBLST3) [MIM:613014] |
Q9UM73 | non-pleiotropic | VAR_041491 | p.Gln1429Arg | Non-Disease | rs55906201 | 0.0002 | - |
Q9UM73 | non-pleiotropic | VAR_041486 | p.Gly1121Asp | Non-Disease | rs55760835 | - | - |
Q9UM73 | non-pleiotropic | VAR_041480 | p.Val476Ala | Non-Disease | rs35093491 | 0.0161 | - |
Q9UM73 | non-pleiotropic | VAR_063865 | p.Arg1275Gln | Disease | - | - | Neuroblastoma 3 (NBLST3) [MIM:613014] |
Q9UM73 | non-pleiotropic | VAR_041483 | p.Ala704Thr | Non-Disease | rs34829159 | - | - |
Q9UM73 | non-pleiotropic | VAR_031042 | p.Ile1461Val | Non-Disease | rs1670283 | 0.0069 | - |
Q9UM73 | non-pleiotropic | VAR_063852 | p.Thr1151Met | Disease | - | - | Neuroblastoma 3 (NBLST3) [MIM:613014] |
Q9UM73 | non-pleiotropic | VAR_063863 | p.Ile1250Thr | Disease | - | - | Neuroblastoma 3 (NBLST3) [MIM:613014] |
O75342 | non-pleiotropic | VAR_069556 | p.Tyr521Cys | Disease | - | - | Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] |
O75342 | non-pleiotropic | VAR_069547 | p.Arg114Trp | Disease | - | - | Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] |
O75342 | non-pleiotropic | VAR_069554 | p.Gly462Asp | Disease | - | - | Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] |
O75342 | non-pleiotropic | VAR_069548 | p.Pro127Ser | Disease | - | - | Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] |
O75342 | non-pleiotropic | VAR_069550 | p.Tyr318Cys | Disease | - | - | Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] |
O75342 | non-pleiotropic | VAR_015174 | p.His578Gln | Disease | - | - | Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] |
O75342 | non-pleiotropic | VAR_069553 | p.Asn416Lys | Disease | - | - | Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] |
O75342 | non-pleiotropic | VAR_069557 | p.Val527Met | Disease | - | - | Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] |
O75342 | non-pleiotropic | VAR_069555 | p.Arg488His | Disease | - | - | Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] |
O75342 | non-pleiotropic | VAR_015173 | p.Leu426Pro | Disease | - | - | Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] |
O75342 | non-pleiotropic | VAR_050000 | p.Gly94Ser | Non-Disease | rs8077661 | 0.0051 | - |
O75342 | non-pleiotropic | VAR_069551 | p.Lys382Glu | Disease | - | - | Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] |
O75342 | non-pleiotropic | VAR_069559 | p.Ala664Pro | Disease | - | - | Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] |
O75342 | non-pleiotropic | VAR_069558 | p.Ala597Glu | Disease | - | - | Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] |
O75342 | non-pleiotropic | VAR_069545 | p.Leu24Pro | Disease | - | - | Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] |
O75342 | non-pleiotropic | VAR_069552 | p.Thr383Met | Disease | - | - | Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] |
O75342 | non-pleiotropic | VAR_069549 | p.Phe195Leu | Disease | - | - | Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] |
O75342 | non-pleiotropic | VAR_069560 | p.Arg679Leu | Disease | - | - | Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] |
O75342 | non-pleiotropic | VAR_069546 | p.Ile67Phe | Disease | - | - | Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] |
Q9BYJ1 | non-pleiotropic | VAR_015175 | p.Arg396Ser | Disease | - | - | Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545] |
Q9BYJ1 | non-pleiotropic | VAR_015176 | p.Val500Phe | Disease | - | - | Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545] |
Q9BYJ1 | non-pleiotropic | VAR_069562 | p.Gly281Val | Disease | - | - | Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545] |
Q9BYJ1 | non-pleiotropic | VAR_069564 | p.Leu427Pro | Disease | - | - | Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545] |
Q9BYJ1 | non-pleiotropic | VAR_069561 | p.Leu237Met | Disease | - | - | Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545] |
Q9BYJ1 | non-pleiotropic | VAR_069565 | p.Pro630Leu | Disease | - | - | Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545] |
O95076 | non-pleiotropic | VAR_047475 | p.Pro234Ala | Non-Disease | rs12749726 | - | - |
O95076 | non-pleiotropic | VAR_063226 | p.Leu168Val | Disease | - | - | Frontonasal dysplasia 1 (FND1) [MIM:136760] |
O95076 | non-pleiotropic | VAR_063229 | p.Asn203Ser | Disease | - | - | Frontonasal dysplasia 1 (FND1) [MIM:136760] |
O95076 | non-pleiotropic | VAR_063228 | p.Arg196Trp | Disease | rs121908170 | 0.0002 | Frontonasal dysplasia 1 (FND1) [MIM:136760] |
O95076 | non-pleiotropic | VAR_063227 | p.Arg183Trp | Disease | - | - | Frontonasal dysplasia 1 (FND1) [MIM:136760] |