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: rs7761731
rs7761731
CYP39A1
0.925 0.040 6 46596080 missense variant A/G;T snv 0.35
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.020 1.000 2 2012 2015
dbSNP: rs7761731
rs7761731
CYP39A1
0.925 0.040 6 46596080 missense variant A/G;T snv 0.35
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.010 1.000 1 2012 2012