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: rs2391191
rs2391191
7 0.807 0.080 13 105467097 missense variant G/A snv 0.40 0.32 0.090 1.000 9 2004 2018
dbSNP: rs947267
rs947267
4 0.882 0.040 13 105487313 intron variant T/G snv 0.51 0.060 0.833 6 2006 2008
dbSNP: rs778294
rs778294
5 0.851 0.040 13 105489886 synonymous variant C/A;T snv 0.27; 4.0E-06 0.26 0.040 1.000 4 2006 2009
dbSNP: rs7139958
rs7139958
2 1.000 0.040 13 105484383 intron variant T/A snv 0.32 0.020 1.000 2 2011 2013
dbSNP: rs1935062
rs1935062
3 0.882 0.080 13 105475787 intron variant A/C snv 0.32 0.010 1.000 1 2011 2011
dbSNP: rs3916967
rs3916967
3 0.882 0.040 13 105464999 intron variant T/C snv 0.32 0.010 1.000 1 2006 2006
dbSNP: rs3916968
rs3916968
1 1.000 0.040 13 105475180 intron variant C/T snv 0.31 0.010 1.000 1 2006 2006
dbSNP: rs3916970
rs3916970
1 1.000 0.040 13 105501882 intron variant C/T snv 0.32 0.010 1.000 1 2006 2006
dbSNP: rs9558571
rs9558571
3 0.882 0.040 13 105486017 intron variant C/T snv 0.28 0.010 1.000 1 2011 2011