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: rs2488393
rs2488393
1 1.000 0.080 1 197753110 intron variant C/T snv 0.23 0.800 1.000 1 2012 2012
dbSNP: rs1539414
rs1539414
1 1.000 0.080 1 197774376 intron variant G/A snv 0.23 0.700 1.000 1 2011 2011
dbSNP: rs16841904
rs16841904
6 0.807 0.160 1 197732862 intron variant C/T snv 0.18 0.700 1.000 1 2011 2011
dbSNP: rs17641524
rs17641524
2 0.925 0.120 1 197735587 splice region variant C/G;T snv 4.0E-06; 0.17 0.700 1.000 1 2015 2015