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: rs3832879
rs3832879
2 12 4372733 non coding transcript exon variant -/A;G ins 4.0E-06; 0.12; 4.0E-06; 4.0E-06 0.10 0.010 1.000 1 2013 2013
dbSNP: rs199473092
rs199473092
3 0.925 0.080 3 38608175 missense variant A/C snv 0.010 1.000 1 2005 2005
dbSNP: rs4262994
rs4262994
2 1.000 0.040 17 37591398 intron variant A/C snv 0.17 0.010 1.000 1 2020 2020
dbSNP: rs104895271
rs104895271
6 0.851 0.240 12 6334161 missense variant A/C;G snv 1.6E-04; 4.8E-05 0.010 1.000 1 2013 2013
dbSNP: rs699947
rs699947
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1204135596
rs1204135596
1 1 247425398 missense variant A/G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1800692
rs1800692
5 0.925 0.120 12 6333180 missense variant A/G snv 0.64 0.71 0.010 1.000 1 2014 2014
dbSNP: rs199473229
rs199473229
4 0.882 0.120 3 38560361 missense variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs3811047
rs3811047
10 0.807 0.400 2 112913833 missense variant A/G snv 0.71 0.60 0.010 1.000 1 2013 2013
dbSNP: rs747753882
rs747753882
3 0.925 0.120 4 38797482 synonymous variant A/G snv 4.0E-06 2.1E-05 0.010 1.000 1 2013 2013
dbSNP: rs781431904
rs781431904
1 14 73192663 missense variant A/G snv 1.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs1057518827
rs1057518827
3 1.000 0.040 1 247425248 missense variant A/G snv 0.700 0
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2009 2009
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs7805622
rs7805622
2 7 56483270 non coding transcript exon variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1057518886
rs1057518886
5 11 119090043 frameshift variant C/- delins 0.700 0
dbSNP: rs11568658
rs11568658
3 0.925 0.040 13 95210754 missense variant C/A snv 4.9E-02 3.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs1187636039
rs1187636039
5 0.925 0.120 3 89341043 missense variant C/A snv 0.010 1.000 1 2011 2011
dbSNP: rs2146323
rs2146323
13 0.752 0.480 6 43777358 non coding transcript exon variant C/A snv 0.31 0.010 1.000 1 2011 2011
dbSNP: rs35829419
rs35829419
23 0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs1555889984
rs1555889984
5 0.925 0.120 21 34834536 stop gained C/A snv 0.700 0
dbSNP: rs28940580
rs28940580
17 0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs7849782
rs7849782
3 0.925 0.160 9 101664982 intron variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs121918622
rs121918622
9 0.790 0.080 2 165992332 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs137854601
rs137854601
10 0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06 0.010 1.000 1 2018 2018