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: rs63750447
rs63750447
17 0.716 0.200 3 37025749 missense variant T/A snv 2.7E-03 7.5E-04 0.020 0.500 2 2007 2019
dbSNP: rs587778964
rs587778964
4 0.882 0.160 3 37048604 missense variant A/C;T snv 0.010 1.000 1 2006 2006
dbSNP: rs63750114
rs63750114
5 0.827 0.160 3 37049015 stop gained C/A;T snv 4.9E-04 0.010 1.000 1 2007 2007
dbSNP: rs876661188
rs876661188
1 1.000 0.080 3 37050573 missense variant C/T snv 0.010 1.000 1 2006 2006