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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UniProtID
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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 214 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P02545 pleiotropic VAR_009985 p.Glu358Lys Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]
P02545 pleiotropic VAR_039776 p.Arg349Leu Disease - - Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545 pleiotropic VAR_039788 p.Arg541Ser Disease - - Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_067697 p.Arg225Gln Disease - - Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) [MIM:181350]
P02545 pleiotropic VAR_039768 p.Leu215Pro Disease - - Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545 pleiotropic VAR_070175 p.Glu138Lys Disease - - Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]
P02545 pleiotropic VAR_039777 p.Arg377Leu Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
Limb-girdle muscular dystrophy 1B (LGMD1B) [MIM:159001]
P02545 pleiotropic VAR_039763 p.Arg190Gln Disease - - Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_039772 p.Leu248Pro Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_017660 p.Glu161Lys Disease rs28933093 - Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545 pleiotropic VAR_039771 p.Gly232Glu Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_039767 p.Glu203Lys Disease rs61195471 - Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545 pleiotropic VAR_064968 p.Ser303Pro Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_063593 p.Arg455Pro Disease - - Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]
P02545 pleiotropic VAR_039745 p.Thr10Ile Non-Disease rs57077886 - -
P02545 pleiotropic VAR_009978 p.Glu203Gly Disease rs28933092 - Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545 pleiotropic VAR_039785 p.Thr528Arg Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_009972 p.Arg50Pro Disease rs60695352 - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]
P02545 pleiotropic VAR_017658 p.Leu140Arg Disease rs60652225 - Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]
P02545 pleiotropic VAR_039748 p.Arg28Trp Disease rs59914820 - Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660]
P02545 pleiotropic VAR_064973 p.Asp461Tyr Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_009987 p.Arg386Lys Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_039762 p.Thr150Pro Disease rs58917027 - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_064962 p.Arg189Pro Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_039787 p.Arg541His Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_039775 p.Glu317Lys Disease - - Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545 pleiotropic VAR_070182 p.Arg471His Disease - - Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545 pleiotropic VAR_009986 p.Met371Lys Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_034710 p.Lys542Asn Disease - - Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]
P02545 pleiotropic VAR_064055 p.Leu59Arg Disease - - Cardiomyopathy, dilated, with hypergonadotropic hypogonadism (CMDHH) [MIM:212112]
P02545 pleiotropic VAR_039752 p.Leu35Val Disease rs56694480 - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_039791 p.Arg624His Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_039782 p.Asn456Lys Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_034706 p.Arg60Gly Disease rs28928900 - Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660]
P02545 pleiotropic VAR_039774 p.Tyr267Cys Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_039751 p.Glu33Gly Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_016913 p.Arg133Leu Disease - - Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660]
P02545 pleiotropic VAR_064965 p.Ser268Pro Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_070176 p.Arg166Pro Disease - - Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545 pleiotropic VAR_009993 p.Arg482Trp Disease - - Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660]
P02545 pleiotropic VAR_039755 p.Arg62Gly Disease rs56793579 - Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660]
Q03252 non-pleiotropic VAR_031063 p.Arg215Gln Disease rs61726481 - Partial acquired lipodystrophy (APLD) [MIM:608709]
Q03252 non-pleiotropic VAR_031064 p.Ala407Thr Disease rs57521499 - Partial acquired lipodystrophy (APLD) [MIM:608709]
O60663 non-pleiotropic VAR_015201 p.Cys59Arg Disease - - Nail-patella syndrome (NPS) [MIM:161200]
O60663 non-pleiotropic VAR_015212 p.Cys146Tyr Disease - - Nail-patella syndrome (NPS) [MIM:161200]
O60663 non-pleiotropic VAR_004199 p.Cys165Trp Disease - - Nail-patella syndrome (NPS) [MIM:161200]
O60663 non-pleiotropic VAR_004202 p.Ser241Pro Disease - - Nail-patella syndrome (NPS) [MIM:161200]
O60663 non-pleiotropic VAR_015207 p.Cys83Tyr Disease - - Nail-patella syndrome (NPS) [MIM:161200]
O60663 non-pleiotropic VAR_004204 p.Ala253Val Disease - - Nail-patella syndrome (NPS) [MIM:161200]
O60663 non-pleiotropic VAR_015210 p.Cys143Ser Disease - - Nail-patella syndrome (NPS) [MIM:161200]