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: rs28939719
rs28939719
3 0.882 0.040 19 919563 missense variant T/C snv 0.030 1.000 3 2003 2008
dbSNP: rs104894701
rs104894701
2 0.925 0.040 19 920542 stop gained C/T snv 7.0E-06 0.020 1.000 2 2003 2006
dbSNP: rs104894702
rs104894702
2 0.925 0.040 19 920746 stop lost T/A;C snv 6.8E-05 0.020 1.000 2 2003 2006
dbSNP: rs775830195
rs775830195
1 1.000 0.040 19 920520 stop gained C/A;T snv 4.2E-06 0.010 1.000 1 2015 2015