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 273 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q7Z412 pleiotropic VAR_034146 p.Leu153Val Non-Disease rs12484657 0.0064 -
Q7Z412 pleiotropic VAR_018649 p.Arg98Trp Disease - - Peroxisome biogenesis disorder 7B (PBD7B) [MIM:614873]
Q7Z412 pleiotropic VAR_018648 p.Gly89Arg Disease - - Peroxisome biogenesis disorder 7A (PBD7A) [MIM:614872]
P56589 non-pleiotropic VAR_053572 p.Gln82Arg Non-Disease rs35220041 0.0234 -
P56589 non-pleiotropic VAR_009304 p.Gly138Glu Disease - - Peroxisome biogenesis disorder 10A (PBD10A) [MIM:614882]
O00628 pleiotropic VAR_016810 p.Thr14Pro Disease - - Peroxisome biogenesis disorder 9B (PBD9B) [MIM:614879]
O00628 pleiotropic VAR_007726 p.Ala218Val Disease - - Rhizomelic chondrodysplasia punctata 1 (RCDP1) [MIM:215100]
P08237 non-pleiotropic VAR_006068 p.Trp686Cys Disease - - Glycogen storage disease 7 (GSD7) [MIM:232800]
P08237 non-pleiotropic VAR_006065 p.Arg100Gln Disease rs2228500 0.1478 Glycogen storage disease 7 (GSD7) [MIM:232800]
P08237 non-pleiotropic VAR_006067 p.Asp543Ala Disease - - Glycogen storage disease 7 (GSD7) [MIM:232800]
P08237 non-pleiotropic VAR_006066 p.Gly209Asp Disease - - Glycogen storage disease 7 (GSD7) [MIM:232800]
P08237 non-pleiotropic VAR_006064 p.Arg39Pro Disease - - Glycogen storage disease 7 (GSD7) [MIM:232800]
P08237 non-pleiotropic VAR_006063 p.Arg39Leu Disease - - Glycogen storage disease 7 (GSD7) [MIM:232800]
P08237 non-pleiotropic VAR_006069 p.Arg696His Disease rs41291971 0.0038 Glycogen storage disease 7 (GSD7) [MIM:232800]
P07737 non-pleiotropic VAR_068928 p.Gly118Val Disease - - Amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808]
P07737 non-pleiotropic VAR_068925 p.Cys71Gly Disease - - Amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808]
P07737 non-pleiotropic VAR_068926 p.Met114Thr Disease - - Amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808]
P15259 non-pleiotropic VAR_006088 p.Glu89Ala Disease - - Glycogen storage disease 10 (GSD10) [MIM:261670]
P15259 non-pleiotropic VAR_013103 p.Gly97Asp Disease - - Glycogen storage disease 10 (GSD10) [MIM:261670]
P15259 non-pleiotropic VAR_006089 p.Arg90Trp Disease - - Glycogen storage disease 10 (GSD10) [MIM:261670]
Q9UHJ9 non-pleiotropic VAR_069667 p.Thr160Ile Disease - - Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3) [MIM:614207]
Q9UHJ9 non-pleiotropic VAR_069664 p.Arg16Trp Disease - - Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3) [MIM:614207]
Q9UHJ9 non-pleiotropic VAR_069668 p.Arg177Pro Disease - - Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3) [MIM:614207]
Q9UHJ9 non-pleiotropic VAR_069665 p.Tyr99Cys Disease - - Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3) [MIM:614207]
Q9UHJ9 non-pleiotropic VAR_069666 p.Leu127Ser Disease - - Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3) [MIM:614207]
P00558 non-pleiotropic VAR_006078 p.Asp164Val Disease - - Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
P00558 non-pleiotropic VAR_006084 p.Asp285Val Disease - - Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
P00558 non-pleiotropic VAR_006087 p.Thr352Asn Non-Disease - - -
P00558 non-pleiotropic VAR_006085 p.Asp315Asn Disease - - Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
P00558 non-pleiotropic VAR_006082 p.Val266Met Disease - - Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
P00558 non-pleiotropic VAR_006081 p.Glu252Ala Disease - - Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
P00558 non-pleiotropic VAR_006077 p.Gly158Val Disease - - Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
P00558 non-pleiotropic VAR_006086 p.Cys316Arg Disease - - Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
P00558 non-pleiotropic VAR_006080 p.Arg206Pro Disease - - Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
P00558 non-pleiotropic VAR_006076 p.Leu88Pro Disease - - Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
P36871 pleiotropic VAR_062280 p.Thr115Ala Disease - - Glycogen storage disease 14 (GSD14) [MIM:612934]
P36871 pleiotropic VAR_069219 p.Gly121Arg Disease - - Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921]
P36871 pleiotropic VAR_006090 p.Lys68Met Non-Disease rs200390982 0.0018 -
P36871 pleiotropic VAR_050496 p.Ile88Val Non-Disease rs855314 0.1276 -
P36871 pleiotropic VAR_006091 p.Arg221Cys Non-Disease rs1126728 0.2424 -
P36871 pleiotropic VAR_006092 p.Tyr420His Non-Disease rs11208257 0.2388 -
P36871 pleiotropic VAR_034380 p.Val501Ile Non-Disease rs6676290 0.0523 -
P78364 non-pleiotropic VAR_054503 p.Thr693Ala Non-Disease rs1049925 0.3687 -
P78364 non-pleiotropic VAR_070566 p.Leu992Phe Disease - - Microcephaly 11, primary, autosomal recessive (MCPH11) [MIM:615414]
P78562 non-pleiotropic VAR_010631 p.Arg651Pro Disease - - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
P78562 non-pleiotropic VAR_010616 p.Phe80Ser Disease - - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
P78562 non-pleiotropic VAR_010617 p.Cys85Phe Disease - - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
P78562 non-pleiotropic VAR_006742 p.Phe252Ser Disease - - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
P78562 non-pleiotropic VAR_010633 p.Asn680Lys Disease - - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]
P78562 non-pleiotropic VAR_010622 p.Asp237Gly Disease - - Hypophosphatemic rickets, X-linked dominant (XLHR) [MIM:307800]