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: rs587777482
rs587777482
EMP2
1 1.000 16 10547590 missense variant C/T snv 1.2E-04 7.0E-05 0.800 1.000 1 2014 2014
dbSNP: rs730882194
rs730882194
EMP2
1 1.000 16 10547597 missense variant G/C snv 0.800 1.000 1 2014 2014
dbSNP: rs587777481
rs587777481
EMP2
1 1.000 16 10538060 stop gained G/A snv 4.0E-06 0.700 0