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: rs17849071
rs17849071
8 0.776 0.160 3 179218439 intron variant T/G snv 7.9E-02 0.020 1.000 2 2012 2014
dbSNP: rs121913274
rs121913274
33 0.645 0.320 3 179218304 missense variant A/C;G;T snv 0.010 1.000 1 2011 2011