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: rs2228065
rs2228065
1 1.000 0.080 10 45425058 missense variant G/A;C snv 9.4E-03; 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs59439148
rs59439148
4 0.925 0.160 10 45374100 upstream gene variant GGGGGCGGGGGCGGGGGCGGGGGC/-;GGGGGC;GGGGGCGGGGGC;GGGGGCGGGGGCGGGGGC;GGGGGCGGGGGCGGGGGCGGGGGCGGGGGC;GGGGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGGGC;GGGGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGGGC delins 0.16 0.010 1.000 1 2013 2013
dbSNP: rs774093518
rs774093518
1 1.000 0.080 10 45443127 synonymous variant C/T snv 2.0E-05 0.010 1.000 1 2006 2006