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: rs267607040
rs267607040
5 0.851 0.320 18 44951948 missense variant G/A snv 0.700 1.000 2 2013 2014
dbSNP: rs267607038
rs267607038
4 0.882 0.320 18 44951952 missense variant T/C;G snv 8.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs267607042
rs267607042
5 0.851 0.320 18 44951942 missense variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs1178702025
rs1178702025
1 1.000 0.080 18 44951912 missense variant G/A snv 0.700 0