Source: ALL
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: rs121918477
rs121918477
F2
2 0.925 0.080 11 46726563 missense variant C/T snv 4.0E-06 0.700 1.000 12 1983 2004
dbSNP: rs121918478
rs121918478
F2
2 0.925 0.080 11 46728746 missense variant C/T snv 8.0E-06 7.0E-06 0.700 1.000 12 1983 2004
dbSNP: rs121918479
rs121918479
F2
2 0.925 0.080 11 46728138 missense variant C/T snv 0.700 1.000 12 1983 2004
dbSNP: rs121918480
rs121918480
F2
2 0.925 0.080 11 46739341 missense variant G/T snv 0.700 1.000 12 1983 2004
dbSNP: rs121918481
rs121918481
F2
2 0.925 0.080 11 46728004 missense variant T/C snv 0.700 1.000 12 1983 2004
dbSNP: rs121918482
rs121918482
F2
2 1.000 0.080 11 46728157 missense variant G/A snv 0.700 1.000 12 1983 2004
dbSNP: rs62623459
rs62623459
F2
2 1.000 0.080 11 46725897 missense variant G/A snv 1.1E-03 1.4E-03 0.700 1.000 12 1983 2004
dbSNP: rs754231232
rs754231232
F2
1 1.000 0.080 11 46726564 missense variant G/A snv 4.0E-06 0.700 1.000 12 1983 2004
dbSNP: rs1799963
rs1799963
F2
25 0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03 0.700 1.000 2 1998 2009
dbSNP: rs387906522
rs387906522
F2
1 1.000 0.080 11 46723421 frameshift variant -/T ins 4.0E-06 0.700 0
dbSNP: rs757240974
rs757240974
F2
4 0.851 0.080 11 46728060 missense variant C/T snv 4.1E-06 0.010 1.000 1 1996 1996
dbSNP: rs770671957
rs770671957
F10
3 0.882 0.080 13 113149326 missense variant C/G;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 1996 1996
dbSNP: rs781413602
rs781413602
F10
3 0.882 0.080 13 113149087 missense variant G/A;T snv 1.6E-05; 4.0E-06 0.010 1.000 1 1996 1996