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: rs1554928884
rs1554928884
1 1.000 0.080 10 121517384 missense variant T/C snv 0.710 1.000 14 1995 2007
dbSNP: rs121913478
rs121913478
17 0.708 0.640 10 121515280 missense variant T/C snv 0.800 1.000 13 1995 2007
dbSNP: rs746082633
rs746082633
5 0.827 0.280 8 38418270 missense variant T/C snv 1.6E-05 1.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs1057519041
rs1057519041
2 0.925 0.160 10 121517465 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1434545235
rs1434545235
11 0.752 0.440 10 121565500 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs879253721
rs879253721
2 0.925 0.080 10 121517316 splice region variant T/C snv 0.700 0
dbSNP: rs121918506
rs121918506
3 0.882 0.080 10 121496701 missense variant T/C;G snv 0.800 1.000 13 1995 2007
dbSNP: rs1057519047
rs1057519047
1 1.000 0.080 10 121488055 missense variant T/C;G snv 0.800 0
dbSNP: rs121918510
rs121918510
1 1.000 0.080 10 121517441 missense variant T/G snv 0.810 1.000 14 1995 2007
dbSNP: rs121918495
rs121918495
2 0.925 0.080 10 121517382 missense variant T/G snv 0.800 1.000 13 1995 2007
dbSNP: rs121918497
rs121918497
8 0.776 0.160 10 121520052 missense variant T/G snv 0.720 1.000 2 2009 2014