Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894795
rs104894795
EBP
1 1.000 X 48523824 missense variant T/C snv 0.800 1.000 4 2003 2014
dbSNP: rs587783599
rs587783599
EBP
2 0.925 0.040 X 48523912 missense variant G/T snv 0.800 1.000 4 2003 2014
dbSNP: rs878854359
rs878854359
EBP
1 1.000 X 48523910 missense variant T/C snv 0.800 1.000 4 2003 2014
dbSNP: rs797045153
rs797045153
EBP
2 0.925 0.040 X 48523995 missense variant T/A snv 0.800 0