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 209 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
O95678 | non-pleiotropic | VAR_038105 | p.Ile367Val | Non-Disease | rs2232402 | 0.0156 | - |
O95678 | non-pleiotropic | VAR_038099 | p.Arg91Gly | Non-Disease | rs298109 | 0.3292 | - |
O95678 | non-pleiotropic | VAR_038100 | p.Pro117Ala | Non-Disease | rs2232386 | 0.1309 | - |
O95678 | non-pleiotropic | VAR_038106 | p.Met427Thr | Non-Disease | rs2232405 | 0.0565 | - |
P05787 | non-pleiotropic | VAR_023059 | p.Tyr54Cys | Disease | - | - | Cirrhosis (CIRRH) [MIM:215600] |
P05787 | non-pleiotropic | VAR_069107 | p.Gly429Asp | Non-Disease | rs1065648 | - | - |
P05787 | non-pleiotropic | VAR_049805 | p.Arg401Trp | Non-Disease | rs2277330 | 0.0006 | - |
P05787 | non-pleiotropic | VAR_023060 | p.Gly62Cys | Disease | rs11554495 | 0.001 | Cirrhosis (CIRRH) [MIM:215600] |
P05787 | non-pleiotropic | VAR_023061 | p.Ile63Val | Non-Disease | rs59536457 | 0.0023 | - |
P05787 | non-pleiotropic | VAR_023058 | p.Gly53Val | Disease | rs61710484 | - | Cirrhosis (CIRRH) [MIM:215600] |
P05787 | non-pleiotropic | VAR_069106 | p.Ser417Gly | Non-Disease | rs1065591 | - | - |
Q14533 | non-pleiotropic | VAR_018115 | p.Arg316Cys | Non-Disease | rs4761786 | 0.0087 | - |
Q14533 | non-pleiotropic | VAR_018116 | p.Glu402Lys | Disease | rs56821304 | 0.0004 | Monilethrix (MLTRX) [MIM:158000] |
Q14533 | non-pleiotropic | VAR_018117 | p.Glu413Lys | Disease | rs57419521 | - | Monilethrix (MLTRX) [MIM:158000] |
Q14533 | non-pleiotropic | VAR_018113 | p.Gly52Arg | Non-Disease | rs2071588 | 0.2778 | - |
Q14533 | non-pleiotropic | VAR_018114 | p.Leu248Arg | Non-Disease | rs6580873 | 0.079 | - |
P78385 | non-pleiotropic | VAR_023052 | p.Glu407Lys | Disease | - | - | Monilethrix (MLTRX) [MIM:158000] |
P78385 | non-pleiotropic | VAR_018121 | p.His493Tyr | Non-Disease | rs2857671 | 0.281 | - |
P78385 | non-pleiotropic | VAR_018120 | p.Ile279Met | Non-Disease | rs2852464 | 0.3407 | - |
P78385 | non-pleiotropic | VAR_018119 | p.Arg149Cys | Non-Disease | rs2857663 | 0.1028 | - |
P78386 | non-pleiotropic | VAR_029657 | p.Arg78His | Disease | rs61630004 | 0.0327 | Ectodermal dysplasia 4, hair/nail type (ECTD4) [MIM:602032] |
P78386 | non-pleiotropic | VAR_049804 | p.Trp155Leu | Non-Disease | rs2852471 | - | - |
O43790 | non-pleiotropic | VAR_018127 | p.Glu402Lys | Disease | - | - | Monilethrix (MLTRX) [MIM:158000] |
O43790 | non-pleiotropic | VAR_018128 | p.Glu413Lys | Disease | - | - | Monilethrix (MLTRX) [MIM:158000] |
O43790 | non-pleiotropic | VAR_018126 | p.Glu402Gln | Disease | rs28939669 | - | Monilethrix (MLTRX) [MIM:158000] |
O43790 | non-pleiotropic | VAR_018129 | p.Glu413Asp | Disease | - | - | Monilethrix (MLTRX) [MIM:158000] |
O43790 | non-pleiotropic | VAR_018125 | p.Asn114Asp | Disease | - | - | Monilethrix (MLTRX) [MIM:158000] |
O43790 | non-pleiotropic | VAR_023053 | p.Asn114His | Disease | - | - | Monilethrix (MLTRX) [MIM:158000] |
P35527 | non-pleiotropic | VAR_036808 | p.Arg163Pro | Disease | - | - | Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200] |
P35527 | non-pleiotropic | VAR_036810 | p.Leu458Phe | Disease | rs58120120 | - | Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200] |
P35527 | non-pleiotropic | VAR_036805 | p.Met157Arg | Disease | - | - | Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200] |
P35527 | non-pleiotropic | VAR_036807 | p.Asn161Ile | Disease | - | - | Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200] |
P35527 | non-pleiotropic | VAR_010500 | p.Met157Val | Disease | rs58597584 | - | Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200] |
P35527 | non-pleiotropic | VAR_010502 | p.Asn161Ser | Disease | rs56707768 | - | Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200] |
P35527 | non-pleiotropic | VAR_010499 | p.Met157Thr | Disease | rs59510579 | - | Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200] |
P35527 | non-pleiotropic | VAR_003823 | p.Arg163Gln | Disease | rs57758262 | - | Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200] |
P35527 | non-pleiotropic | VAR_010503 | p.Asn161Tyr | Disease | rs59296273 | - | Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200] |
P35527 | non-pleiotropic | VAR_003822 | p.Asn161Lys | Disease | rs57536312 | - | Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200] |
P35527 | non-pleiotropic | VAR_003825 | p.Leu168Ser | Disease | rs61157095 | - | Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200] |
P35527 | non-pleiotropic | VAR_036806 | p.Asn161His | Disease | - | - | Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200] |
P35527 | non-pleiotropic | VAR_035438 | p.Leu160Phe | Disease | rs28940896 | - | Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200] |
P35527 | non-pleiotropic | VAR_010504 | p.Gln172Pro | Disease | rs59878153 | - | Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200] |
P35527 | non-pleiotropic | VAR_035439 | p.Val171Met | Disease | rs57019720 | - | Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200] |
P35527 | non-pleiotropic | VAR_010501 | p.Leu160Val | Disease | - | - | Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200] |
P35527 | non-pleiotropic | VAR_003824 | p.Arg163Trp | Disease | rs59616921 | - | Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200] |
Q9H9P8 | non-pleiotropic | VAR_025686 | p.His98Tyr | Disease | - | - | L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792] |
Q9H9P8 | non-pleiotropic | VAR_025682 | p.Gly55Asp | Disease | - | - | L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792] |
Q9H9P8 | non-pleiotropic | VAR_057808 | p.Arg33Ser | Non-Disease | rs35710558 | 0.0101 | - |
Q9H9P8 | non-pleiotropic | VAR_025688 | p.Tyr178Phe | Non-Disease | - | - | - |
Q9H9P8 | non-pleiotropic | VAR_025690 | p.His434Pro | Disease | - | - | L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792] |