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: rs1998598
rs1998598
1 1.000 0.040 1 197758512 intron variant A/G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs16841904
rs16841904
5 0.807 0.160 1 197732862 intron variant C/T snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs2488389
rs2488389
3 0.925 0.040 1 197662011 intron variant G/A snv 0.22 0.700 1.000 1 2015 2015
dbSNP: rs2488397
rs2488397
2 1.000 0.040 1 197732149 intron variant G/C snv 0.23 0.700 1.000 1 2017 2017