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: rs35947132
rs35947132
10 0.776 0.280 10 70600631 missense variant G/A snv 2.9E-02 2.9E-02 0.020 1.000 2 2005 2014
dbSNP: rs104894500
rs104894500
3 0.882 0.200 15 55224004 stop gained G/A;T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs111033623
rs111033623
3 0.925 0.080 X 124365786 stop gained C/T snv 0.010 1.000 1 2020 2020
dbSNP: rs11575982
rs11575982
2 0.925 0.080 X 136659171 missense variant G/A;C snv 1.8E-03; 9.3E-05 0.010 1.000 1 2017 2017
dbSNP: rs145036301
rs145036301
5 0.851 0.120 19 11513899 missense variant A/G snv 2.7E-03 9.4E-04 0.010 1.000 1 2018 2018
dbSNP: rs2004640
rs2004640
26 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.010 1.000 1 2011 2011
dbSNP: rs2280714
rs2280714
10 0.752 0.440 7 128954671 3 prime UTR variant C/T snv 0.64 0.010 1.000 1 2011 2011
dbSNP: rs2303116
rs2303116
1 1.000 0.040 19 7641770 synonymous variant C/T snv 7.5E-03 2.1E-03 0.010 1.000 1 2016 2016
dbSNP: rs28933375
rs28933375
4 0.882 0.160 10 70598966 missense variant T/C snv 5.0E-03 7.5E-03 0.010 1.000 1 2005 2005
dbSNP: rs729302
rs729302
6 0.827 0.160 7 128928906 intergenic variant A/C snv 0.28 0.010 1.000 1 2011 2011
dbSNP: rs747380397
rs747380397
1 1.000 0.040 10 70599026 missense variant C/A;T snv 6.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs752317734
rs752317734
5 0.851 0.120 8 90020913 missense variant T/C snv 4.9E-06 0.010 1.000 1 2018 2018
dbSNP: rs771640357
rs771640357
3 0.882 0.120 10 89215938 missense variant C/G snv 4.0E-06 0.010 1.000 1 2019 2019