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: rs104894058
rs104894058
1 1.000 0.080 7 19116781 stop gained C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs1057519044
rs1057519044
11 0.752 0.440 10 121517390 missense variant C/T snv 0.700 0
dbSNP: rs1085307555
rs1085307555
2 0.925 0.080 7 19116993 missense variant C/G;T snv 0.700 0
dbSNP: rs121909186
rs121909186
1 1.000 0.080 7 19117013 stop gained -/T delins 0.700 0
dbSNP: rs121909187
rs121909187
1 1.000 0.080 7 19116954 stop gained G/T snv 0.700 0
dbSNP: rs121913478
rs121913478
17 0.708 0.640 10 121515280 missense variant T/C snv 0.700 0
dbSNP: rs121918487
rs121918487
25 0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.700 0
dbSNP: rs121918491
rs121918491
15 0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06 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: rs1554441989
rs1554441989
1 1.000 0.080 7 19116904 inframe insertion -/GGGCAGCGTGGGGATGATCTT delins 0.700 0
dbSNP: rs1554442015
rs1554442015
5 0.851 0.120 7 19116970 missense variant G/C snv 0.700 0
dbSNP: rs1554927408
rs1554927408
12 0.742 0.480 10 121515254 missense variant C/T snv 0.700 0
dbSNP: rs1563159980
rs1563159980
2 0.925 0.080 7 19116903 stop gained -/AGGGCAGCGTGGGGATGATCT delins 0.700 0
dbSNP: rs1563160116
rs1563160116
2 0.925 0.080 7 19117021 stop gained G/A snv 0.700 0
dbSNP: rs1563160337
rs1563160337
2 0.925 0.080 7 19117211 frameshift variant CGTCCCCCGCGCTTGCCGCTCG/- delins 0.700 0
dbSNP: rs4647924
rs4647924
49 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.700 0
dbSNP: rs77543610
rs77543610
28 0.667 0.560 10 121520160 missense variant G/C snv 0.700 0
dbSNP: rs79184941
rs79184941
41 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.700 0
dbSNP: rs879253718
rs879253718
1 1.000 0.080 10 121520109 inframe deletion ACCACT/- del 0.700 0
dbSNP: rs104894057
rs104894057
1 1.000 0.080 7 19116966 missense variant T/G snv 0.800 1.000 3 1997 2001
dbSNP: rs104894059
rs104894059
1 1.000 0.080 7 19116856 missense variant T/C snv 0.800 1.000 3 1997 2001
dbSNP: rs121909189
rs121909189
1 1.000 0.080 7 19116930 missense variant A/G snv 0.800 1.000 3 1997 2001
dbSNP: rs104894054
rs104894054
1 1.000 0.080 7 19117013 stop gained G/C;T snv 0.710 1.000 1 2002 2002
dbSNP: rs104894055
rs104894055
2 0.925 0.080 7 19117240 stop gained G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs121918497
rs121918497
8 0.776 0.160 10 121520052 missense variant T/G snv 0.010 1.000 1 2006 2006