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: rs55686954
rs55686954
1 1.000 0.120 2 203721792 intron variant G/A snv 4.8E-02 0.700 1.000 1 2012 2012
dbSNP: rs2140148
rs2140148
1 1.000 0.120 2 203707417 intron variant A/C;T snv 0.010 1.000 1 2010 2010