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: rs121913279
rs121913279
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs1565706229
rs1565706229
18 0.851 0.120 11 86277110 missense variant T/C snv 0.700 0
dbSNP: rs397514698
rs397514698
52 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
dbSNP: rs587784177
rs587784177
20 0.790 0.280 5 177283827 missense variant G/A snv 0.700 0
dbSNP: rs786204849
rs786204849
7 0.882 0.200 11 65885181 stop gained G/A snv 0.700 0
dbSNP: rs886039908
rs886039908
5 0.925 0.360 X 133536175 frameshift variant A/- delins 0.700 0
dbSNP: rs886041065
rs886041065
43 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
dbSNP: rs558269137
rs558269137
8 0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02 0.700 1.000 1 2006 2006
dbSNP: rs1057515572
rs1057515572
8 0.882 0.200 7 5987033 frameshift variant GC/ACT delins 0.700 1.000 1 2007 2007
dbSNP: rs111033178
rs111033178
6 0.851 0.200 11 77190108 missense variant G/A snv 7.5E-05 5.6E-05 0.700 1.000 13 1995 2011
dbSNP: rs111033284
rs111033284
2 11 77156991 missense variant G/A snv 1.6E-05 7.0E-06 0.700 1.000 13 1995 2011
dbSNP: rs387906309
rs387906309
10 0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04 0.700 1.000 11 1986 2011
dbSNP: rs1555202806
rs1555202806
3 1.000 0.120 12 76348313 frameshift variant AACGCCGC/- delins 0.700 1.000 17 1999 2013
dbSNP: rs549625604
rs549625604
13 0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04 0.700 1.000 17 1999 2013
dbSNP: rs768933093
rs768933093
10 0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05 0.700 1.000 17 1999 2013
dbSNP: rs778431173
rs778431173
1 12 76346181 missense variant C/A;G snv 4.0E-06 7.0E-06 0.700 1.000 17 1999 2013
dbSNP: rs368820286
rs368820286
3 1.000 5 126549924 splice region variant C/T snv 2.0E-05 1.4E-05 0.700 1.000 9 1996 2013
dbSNP: rs1555179320
rs1555179320
4 0.925 0.040 12 21817283 missense variant C/T snv 0.700 1.000 8 1999 2013
dbSNP: rs977277400
rs977277400
2 11 47336012 splice acceptor variant C/G snv 0.700 1.000 7 1995 2013
dbSNP: rs781469274
rs781469274
2 5 13792128 stop gained G/A snv 3.2E-05 7.0E-06 0.700 1.000 6 2002 2013
dbSNP: rs80359636
rs80359636
7 0.851 0.240 13 32354921 frameshift variant CT/- delins 2.8E-05 0.700 1.000 6 2005 2013
dbSNP: rs1554499814
rs1554499814
2 1.000 7 148829806 missense variant C/G snv 0.700 1.000 5 1998 2013
dbSNP: rs567573386
rs567573386
5 0.882 0.120 16 56484820 stop gained G/A snv 3.2E-05 1.4E-05 0.700 1.000 3 2007 2013
dbSNP: rs1553549717
rs1553549717
2 1.000 2 166051871 frameshift variant C/- delins 0.700 1.000 19 1997 2014
dbSNP: rs1556039406
rs1556039406
NHS
2 1.000 X 17727350 frameshift variant C/- delins 0.700 1.000 7 2002 2014