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: rs17425752
rs17425752
1 1.000 0.040 17 45829360 splice region variant A/C snv 0.15 0.14 0.700 1.000 1 2011 2011