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.

Refine Search

UniProtID
Disease name
Protein type
Variant type
Use data from

Show per page.

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 213 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P02545 pleiotropic VAR_070174 p.Arg101Pro Disease - - Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545 pleiotropic VAR_017663 p.Arg527Cys Disease - - Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]
P02545 pleiotropic VAR_009984 p.Arg343Gln Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_009989 p.Gly465Asp Disease - - Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660]
P02545 pleiotropic VAR_009982 p.Gln294Pro Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_064971 p.Gly449Asp Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_009977 p.Asn195Lys Disease rs28933091 - Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545 pleiotropic VAR_034707 p.Ser143Phe Disease rs58912633 - Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]
P02545 pleiotropic VAR_009998 p.Arg582His Disease rs57830985 0.0002 Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660]
P02545 pleiotropic VAR_063591 p.Leu380Ser Disease - - Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]
P02545 pleiotropic VAR_009995 p.Arg527Pro Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660]
P02545 pleiotropic VAR_039747 p.Arg25Pro Disease rs61578124 - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_063592 p.Arg453Pro Disease - - Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]
P02545 pleiotropic VAR_039753 p.Ala43Thr Disease rs60446065 - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_070181 p.Arg439Cys Disease - - Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660]
P02545 pleiotropic VAR_064970 p.Glu361Lys Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_009992 p.Arg482Gln Disease rs11575937 - Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660]
P02545 pleiotropic VAR_009997 p.Leu530Pro Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_009974 p.Ile63Ser Disease rs57793737 - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_063590 p.Leu302Pro Disease - - Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]
P02545 pleiotropic VAR_070179 p.Ala318Thr Disease - - Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545 pleiotropic VAR_039783 p.Tyr481His Disease - - Limb-girdle muscular dystrophy 1B (LGMD1B) [MIM:159001]
P02545 pleiotropic VAR_016205 p.Arg377His Disease - - Limb-girdle muscular dystrophy 1B (LGMD1B) [MIM:159001]
P02545 pleiotropic VAR_039769 p.His222Pro Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_067257 p.Leu92Phe Disease - - Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545 pleiotropic VAR_039778 p.Arg399Cys Disease - - Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660]
P02545 pleiotropic VAR_039757 p.Glu65Gly Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_017664 p.Gly608Ser Disease - - Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]
P02545 pleiotropic VAR_063589 p.Arg249Trp Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]
P02545 pleiotropic VAR_009980 p.Arg249Gln Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_064964 p.Phe206Leu Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_017656 p.Ala57Pro Disease rs28928903 - Cardiomyopathy, dilated, with hypergonadotropic hypogonadism (CMDHH) [MIM:212112]
P02545 pleiotropic VAR_017661 p.Arg298Cys Disease - - Charcot-Marie-Tooth disease 2B1 (CMT2B1) [MIM:605588]
P02545 pleiotropic VAR_039781 p.Asn456Ile Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_018727 p.Arg527His Disease - - Mandibuloacral dysplasia with type A lipodystrophy (MADA) [MIM:248370]
P02545 pleiotropic VAR_009996 p.Thr528Lys Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_034709 p.Ala529Val Disease - - Mandibuloacral dysplasia with type A lipodystrophy (MADA) [MIM:248370]
P02545 pleiotropic VAR_039746 p.Arg25Gly Disease rs58327533 - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_067258 p.Gly523Arg Disease - - Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545 pleiotropic VAR_064974 p.Trp467Arg Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_039761 p.Ser143Pro Disease rs61661343 - Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545 pleiotropic VAR_063594 p.Asn456Asp Disease - - Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]
P02545 pleiotropic VAR_064975 p.Arg541Pro Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_017657 p.Arg133Pro Disease rs60864230 - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_064972 p.Leu454Pro Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_039756 p.Ile63Asn Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_009991 p.Arg482Leu Disease - - Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660]
P02545 pleiotropic VAR_009971 p.Tyr45Cys Disease rs58436778 - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_039760 p.Leu140Pro Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_017659 p.Glu145Lys Disease rs60310264 - Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]