PLEC, plectin, 5339

N. diseases: 218; N. variants: 35
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11136341
rs11136341 		8 143969375 intron variant A/G snv 0.40
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 3 2010 2018
dbSNP: rs11136341
rs11136341 		8 143969375 intron variant A/G snv 0.40
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2010 2018
dbSNP: rs11136341
rs11136341 		8 143969375 intron variant A/G snv 0.40
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 2 2010 2013
dbSNP: rs11783772
rs11783772 		8 143934275 intron variant A/T snv 0.33 0.29
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 2 2019 2019
dbSNP: rs7464572
rs7464572 		8 143946999 intron variant C/A;G snv
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		0.800 1.000 2 2013 2017
dbSNP: rs11780978
rs11780978 		1.000 0.040 8 143960684 intron variant G/A snv 0.30
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		0.700 1.000 1 2016 2016
dbSNP: rs11780978
rs11780978 		1.000 0.040 8 143960684 intron variant G/A snv 0.30
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs11783655
rs11783655 		8 143963405 intron variant T/A snv 0.30
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs11783655
rs11783655 		8 143963405 intron variant T/A snv 0.30
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2014 2014
dbSNP: rs55831924
rs55831924 		8 143957800 intron variant C/T snv 0.26
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs55831924
rs55831924 		8 143957800 intron variant C/T snv 0.26
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs6995402
rs6995402 		8 143931393 intron variant T/C snv
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.800 1.000 1 2011 2011
dbSNP: rs73715570
rs73715570 		8 143951130 intron variant C/T snv 0.26
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs7464572
rs7464572 		8 143946999 intron variant C/A;G snv
CUI: C1561955
Disease: Fibrinogen, CTCAE
Fibrinogen, CTCAE 		0.700 1.000 1 2013 2013
dbSNP: rs7464572
rs7464572 		8 143946999 intron variant C/A;G snv
CUI: C1325327
Disease: fibrinogen activity
fibrinogen activity 		0.700 1.000 1 2013 2013
dbSNP: rs7832643
rs7832643 		8 143948489 intron variant G/A;T snv 0.46
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2017 2017
dbSNP: rs7832643
rs7832643 		8 143948489 intron variant G/A;T snv 0.46
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2017 2017
dbSNP: rs1554675388
rs1554675388 		0.827 0.160 8 143918471 stop gained G/A snv
CUI: C3150989
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 		0.700 1.000 4 1996 2013
dbSNP: rs1554675388
rs1554675388 		0.827 0.160 8 143918471 stop gained G/A snv
CUI: C2677349
Disease: Epidermolysis Bullosa Simplex With Pyloric Atresia
Epidermolysis Bullosa Simplex With Pyloric Atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 4 1996 2013
dbSNP: rs1554675388
rs1554675388 		0.827 0.160 8 143918471 stop gained G/A snv
CUI: C2931072
Disease: Epidermolysa bullosa simplex and limb girdle muscular dystrophy
Epidermolysa bullosa simplex and limb girdle muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 1996 2013
dbSNP: rs1554675388
rs1554675388 		0.827 0.160 8 143918471 stop gained G/A snv
CUI: C4225309
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY
EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY 		0.700 1.000 4 1996 2013
dbSNP: rs1554675388
rs1554675388 		0.827 0.160 8 143918471 stop gained G/A snv
CUI: C0432317
Disease: Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex, Ogna type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 4 1996 2013
dbSNP: rs1554683108
rs1554683108 		0.827 0.160 8 143920820 stop gained GC/AA mnv
CUI: C0432317
Disease: Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex, Ogna type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 2 2000 2013
dbSNP: rs1554683108
rs1554683108 		0.827 0.160 8 143920820 stop gained GC/AA mnv
CUI: C4225309
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY
EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY 		0.700 1.000 2 2000 2013
dbSNP: rs1554683108
rs1554683108 		0.827 0.160 8 143920820 stop gained GC/AA mnv
CUI: C2931072
Disease: Epidermolysa bullosa simplex and limb girdle muscular dystrophy
Epidermolysa bullosa simplex and limb girdle muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2000 2013