ACTN1, actinin alpha 1, 87

N. diseases: 34; N. variants: 11
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: rs117672662
rs117672662 		14 68958750 intron variant T/C snv 7.4E-03
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 2 2016 2019
dbSNP: rs3784138
rs3784138 		14 68929672 intron variant T/C snv 0.18
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2018 2018