PLEC, plectin, 5339

N. diseases: 218; N. variants: 35
Disease: Platelet Count measurement ×
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: 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: rs7833924
rs7833924 		8 143921861 missense variant A/G snv 0.40 0.53
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016