Variant List

Listed below are all the variants used in our analysis. You can refine the list by using the panel below.
To see only proteins and their associated diseases, see page.

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Statistics

Found 7392 SAVs (36.7 %)from  pleiotropic protein  and 12743 SAVs (63.3 %) from non-pleiotropic protein.

pleiotropic

15222  disease SAVs  (75.6 %) and 4913 non-disease (24.4 %).

disease

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]