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: rs10587701
rs10587701
3 72238120 intron variant CT/- delins
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure)
0.700 1.000 1 2016 2016
dbSNP: rs1316386
rs1316386
3 72127374 intron variant T/A snv 0.32
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 1.000 1 2019 2019
dbSNP: rs4282028
rs4282028
3 72240019 intron variant T/C snv 0.70
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure)
0.700 1.000 1 2016 2016
dbSNP: rs6771316
rs6771316
3 72091381 intron variant G/A snv 0.13
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
0.700 1.000 1 2013 2013
dbSNP: rs7432379
rs7432379
3 72237750 intron variant T/A;C snv 0.60
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure)
0.700 1.000 1 2016 2016
dbSNP: rs4532099
rs4532099
1.000 0.080 3 72266805 intron variant T/C snv 0.82
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.010 1.000 1 2012 2012