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: 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