Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs7550918
rs7550918
GCSAML
1 247512257 intron variant C/T snv 0.70
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.800 1.000 1 2011 2011
dbSNP: rs41315846
rs41315846
GCSAML
1 247549001 intron variant T/C snv 0.44 0.52
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 2 2016 2016
dbSNP: rs41315846
rs41315846
GCSAML
1 247549001 intron variant T/C snv 0.44 0.52
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		0.700 1.000 1 2016 2016
dbSNP: rs41315846
rs41315846
GCSAML
1 247549001 intron variant T/C snv 0.44 0.52
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs56043070
rs56043070
GCSAML
1 247556467 splice donor variant G/A;T snv 5.2E-02; 4.1E-06
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs56043070
rs56043070
GCSAML
1 247556467 splice donor variant G/A;T snv 5.2E-02; 4.1E-06
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs56043070
rs56043070
GCSAML
1 247556467 splice donor variant G/A;T snv 5.2E-02; 4.1E-06
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		0.700 1.000 1 2016 2016
dbSNP: rs56043070
rs56043070
GCSAML
1 247556467 splice donor variant G/A;T snv 5.2E-02; 4.1E-06
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs74227709
rs74227709
GCSAML
1 247559286 intron variant G/A snv 5.5E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018