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: rs647316
rs647316
1 2 31241963 intron variant A/G snv 0.80 0.800 1.000 2 2009 2012
dbSNP: rs649729
rs649729
3 1.000 0.040 2 31241519 intron variant T/A;C snv 0.800 1.000 1 2011 2011
dbSNP: rs655029
rs655029
3 2 31254972 intron variant G/A snv 0.78 0.700 1.000 1 2016 2016