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 0
dbSNP: rs121918478
rs121918478
F2
2 0.925 0.080 11 46728746 missense variant C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs121918479
rs121918479
F2
2 0.925 0.080 11 46728138 missense variant C/T snv 0.700 0
dbSNP: rs121918480
rs121918480
F2
2 0.925 0.080 11 46739341 missense variant G/T snv 0.700 0
dbSNP: rs121918481
rs121918481
F2
2 0.925 0.080 11 46728004 missense variant T/C snv 0.700 0
dbSNP: rs121918483
rs121918483
F2
1 1.000 0.080 11 46726734 missense variant G/A snv 4.9E-04 0.700 0
dbSNP: rs121918484
rs121918484
F2
1 1.000 0.080 11 46726761 missense variant G/A snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs121918485
rs121918485
F2
1 1.000 0.080 11 46728139 missense variant G/A snv 4.1E-06 0.700 0
dbSNP: rs121918486
rs121918486
F2
1 1.000 0.080 11 46739324 missense variant C/G snv 0.700 0
dbSNP: rs1799963
rs1799963
F2
25 0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03 0.700 0
dbSNP: rs1176447366
rs1176447366
TINAGL1
3 0.882 0.080 1 31586845 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs1361766713
rs1361766713
F2
1 1.000 0.080 11 46729505 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 8.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs143498218
rs143498218
F2
2 0.925 0.080 11 46728732 missense variant G/A;C snv 2.4E-05; 8.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs387907201
rs387907201
F2
4 1.000 0.080 11 46739326 missense variant G/A;T snv 0.010 1.000 1 2018 2018