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: rs672601370
rs672601370
13 0.790 0.160 2 240775863 missense variant G/A snv 0.800 1.000 6 2011 2017
dbSNP: rs387906799
rs387906799
19 0.742 0.200 2 240788118 missense variant G/A snv 0.800 1.000 5 2011 2015
dbSNP: rs672601362
rs672601362
7 0.851 0.080 2 240789246 missense variant G/A snv 0.800 1.000 4 2011 2015
dbSNP: rs672601363
rs672601363
6 0.851 0.080 2 240788109 missense variant C/T snv 0.800 1.000 4 2011 2015
dbSNP: rs672601364
rs672601364
4 0.925 0.040 2 240786513 missense variant C/A snv 0.800 1.000 4 2011 2015
dbSNP: rs672601365
rs672601365
4 0.925 0.040 2 240786444 missense variant G/A snv 7.0E-06 0.800 1.000 4 2011 2015
dbSNP: rs672601366
rs672601366
6 0.851 0.120 2 240786339 missense variant C/G snv 0.800 1.000 4 2011 2015
dbSNP: rs672601367
rs672601367
7 0.851 0.080 2 240785066 missense variant T/G snv 0.800 1.000 4 2011 2015
dbSNP: rs672601368
rs672601368
10 0.827 0.160 2 240785062 missense variant C/G;T snv 0.800 1.000 4 2011 2015
dbSNP: rs672601369
rs672601369
10 0.790 0.120 2 240783780 missense variant C/T snv 0.800 1.000 4 2011 2015
dbSNP: rs672601371
rs672601371
4 0.925 0.080 2 240783791 missense variant A/T snv 0.800 1.000 4 2011 2015
dbSNP: rs797045164
rs797045164
8 0.851 0.120 2 240785063 missense variant G/A snv 0.800 1.000 4 2011 2015
dbSNP: rs387906798
rs387906798
2 0.925 0.080 2 240783773 missense variant G/A snv 0.700 1.000 4 2011 2015
dbSNP: rs387907259
rs387907259
2 0.925 0.080 2 240773246 missense variant G/A;C snv 0.700 1.000 4 2011 2015
dbSNP: rs1064793161
rs1064793161
3 0.882 0.080 2 240775889 missense variant C/T snv 0.700 1.000 2 2015 2016
dbSNP: rs786200949
rs786200949
4 0.851 0.120 2 240788208 missense variant G/A snv 0.700 1.000 2 2015 2015
dbSNP: rs1064795534
rs1064795534
3 0.882 0.080 2 240788110 missense variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1553624714
rs1553624714
3 0.882 0.080 2 240720913 splice donor variant C/G snv 0.700 1.000 1 2011 2011
dbSNP: rs1553633687
rs1553633687
3 0.882 0.080 2 240762718 splice donor variant C/G snv 0.700 1.000 1 2011 2011
dbSNP: rs1559477798
rs1559477798
3 0.882 0.080 2 240723560 splice acceptor variant T/C snv 0.700 1.000 1 2011 2011
dbSNP: rs1559527796
rs1559527796
3 0.882 0.080 2 240785101 splice acceptor variant C/T snv 0.700 1.000 1 2011 2011
dbSNP: rs587778791
rs587778791
4 0.851 0.120 2 240757337 frameshift variant A/- del 7.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs751051049
rs751051049
3 0.882 0.080 2 240769625 splice donor variant A/G;T snv 4.1E-06 0.700 1.000 1 2011 2011
dbSNP: rs797045050
rs797045050
6 0.807 0.120 2 240797715 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs886041692
rs886041692
3 0.882 0.080 2 240783776 missense variant C/G;T snv 0.700 1.000 1 2015 2015