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: rs121918497
rs121918497
8 0.776 0.160 10 121520052 missense variant T/G snv 0.010 1.000 1 2006 2006
dbSNP: rs562297920
rs562297920
1 1.000 0.080 10 121515192 synonymous variant G/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs974173968
rs974173968
3 0.882 0.080 10 121551382 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1057519044
rs1057519044
11 0.752 0.440 10 121517390 missense variant C/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: rs1554927408
rs1554927408
12 0.742 0.480 10 121515254 missense variant C/T snv 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: 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: rs1554441995
rs1554441995
2 0.925 0.080 7 19116927 missense variant C/G snv 0.700 1.000 10 1998 2015
dbSNP: rs1554441991
rs1554441991
2 0.925 0.080 7 19116905 inframe insertion -/GGCAGCGTGGGGATGATCTTC delins 0.700 1.000 7 1997 2010
dbSNP: rs121909188
rs121909188
2 0.925 0.080 7 19116946 stop gained C/A snv 0.700 1.000 5 1997 2013
dbSNP: rs1554442019
rs1554442019
2 0.925 0.080 7 19116976 missense variant G/C snv 0.700 1.000 4 1998 2011
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: rs1554442082
rs1554442082
2 0.925 0.080 7 19117180 frameshift variant CGCGCTGCGCC/- delins 0.700 1.000 2 2003 2013
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: rs1554441993
rs1554441993
2 0.925 0.080 7 19116913 frameshift variant -/G delins 0.700 1.000 1 2013 2013
dbSNP: rs104894058
rs104894058
1 1.000 0.080 7 19116781 stop gained C/A;G;T snv 4.0E-06 0.700 0