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: rs1269252748
rs1269252748
4 9 2641436 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs1318256630
rs1318256630
2 11 66708251 missense variant G/A snv 4.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs770684782
rs770684782
3 9 132288268 stop gained G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs730882234
rs730882234
4 0.925 17 59697725 missense variant T/G snv 0.700 0
dbSNP: rs797046006
rs797046006
1 11 66715958 missense variant T/C snv 0.700 0
dbSNP: rs876661219
rs876661219
2 1.000 12 13571891 missense variant A/C;G snv 0.700 0
dbSNP: rs1208917022
rs1208917022
3 1.000 0.040 12 6936663 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs755221106
rs755221106
7 0.851 0.040 17 50617560 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs1057518988
rs1057518988
3 0.925 0.040 12 13571859 missense variant T/C snv 0.700 0
dbSNP: rs771578775
rs771578775
3 1.000 0.080 1 226982996 stop gained C/T snv 4.5E-05 5.6E-05 0.020 0.500 2 2010 2012
dbSNP: rs119456965
rs119456965
3 1.000 0.080 5 139050960 stop gained G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs121908230
rs121908230
5 0.882 0.080 19 13262789 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs121918514
rs121918514
4 0.925 0.080 19 53889705 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs121918518
rs121918518
3 1.000 0.080 19 53889655 missense variant C/G snv 0.010 1.000 1 2005 2005
dbSNP: rs2307441
rs2307441
6 0.882 0.080 15 89318595 missense variant T/C snv 2.9E-02 2.7E-02 0.010 1.000 1 2010 2010
dbSNP: rs267607044
rs267607044
3 1.000 0.080 9 132327718 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2006 2006
dbSNP: rs28933381
rs28933381
4 0.925 0.080 12 4912102 missense variant G/C snv 0.010 < 0.001 1 2013 2013
dbSNP: rs58332872
rs58332872
5 0.882 0.080 8 24956248 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs587777004
rs587777004
3 1.000 0.080 1 244842055 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs58982919
rs58982919
10 0.790 0.080 8 24956223 missense variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs1553878395
rs1553878395
5 0.925 0.080 4 25127263 splice acceptor variant AAAGATATGGGATTGTGAGGTGTATGCAACAGTCTTTCATTGTAGGCTTCTGACAACTTCTTTATTTGGTTGGACAAATATGAAAACATTTCCT/- delins 0.700 0
dbSNP: rs672601362
rs672601362
7 0.851 0.080 2 240789246 missense variant G/A snv 0.700 0
dbSNP: rs730882209
rs730882209
6 0.925 0.080 9 132326375 frameshift variant -/C delins 0.700 0
dbSNP: rs104894699
rs104894699
4 0.925 0.120 19 50323694 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs121908217
rs121908217
9 0.851 0.120 19 13308452 missense variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012