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: rs387907221
rs387907221
1 1.000 0.120 4 55411783 missense variant G/A snv 0.800 1.000 3 2012 2013
dbSNP: rs886037631
rs886037631
1 1.000 0.120 4 55425387 missense variant G/A snv 0.800 1.000 3 2012 2013
dbSNP: rs387907222
rs387907222
1 1.000 0.120 4 55411782 missense variant C/T snv 1.6E-05 1.4E-05 0.700 1.000 3 2012 2013
dbSNP: rs793888506
rs793888506
1 1.000 0.120 4 55418167 splice region variant G/A snv 0.700 0