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: rs1057156731
rs1057156731
LMNA
3 0.925 0.120 1 156137730 missense variant T/A snv 0.010 1.000 1 2016 2016
dbSNP: rs10889332
rs10889332
DOCK7
4 1.000 0.120 1 62485187 3 prime UTR variant C/T snv 0.39 0.010 1.000 1 2016 2016
dbSNP: rs10911205
rs10911205
LAMC1
1 1 183040142 intron variant C/A snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs10911232
rs10911232
LAMC1
1 1 183083398 intron variant C/T snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs11122316
rs11122316
GALNT2
2 1.000 0.120 1 230101356 intron variant A/G snv 0.42 0.010 1.000 1 2016 2016
dbSNP: rs11206517
rs11206517
PCSK9
4 1.000 0.120 1 55060755 intron variant T/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2015 2015
dbSNP: rs11575937
rs11575937
LMNA
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.010 1.000 1 2000 2000
dbSNP: rs11576175
rs11576175
CTSS
2 1.000 1 150754918 intron variant G/A snv 7.2E-02 0.010 1.000 1 2013 2013
dbSNP: rs1168013
rs1168013
DOCK7
6 1.000 0.120 1 62531167 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2018 2018
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2015 2015
dbSNP: rs1997947
rs1997947
GALNT2
2 1.000 0.120 1 230148017 intron variant G/A snv 0.78 0.010 1.000 1 2016 2016
dbSNP: rs2760537
rs2760537
GALNT2
2 1.000 0.120 1 230190666 intron variant G/A snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs2808607
rs2808607
EGLN1
2 1.000 0.080 1 231405228 intron variant G/A snv 0.56 0.010 1.000 1 2014 2014
dbSNP: rs324420
rs324420
FAAH
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.010 1.000 1 2009 2009
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2015 2015
dbSNP: rs41284589
rs41284589
GNG5 ; SPATA1
2 1.000 0.040 1 84506243 5 prime UTR variant G/A snv 5.4E-02 0.010 1.000 1 2015 2015
dbSNP: rs4845625
rs4845625
IL6R
9 0.851 0.080 1 154449591 intron variant T/C snv 0.60 0.010 1.000 1 2015 2015
dbSNP: rs4846913
rs4846913
GALNT2
4 1.000 0.120 1 230158968 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs59914820
rs59914820
LMNA
3 0.925 0.160 1 156115000 missense variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs615563
rs615563
PCSK9
2 1.000 0.120 1 55060623 intron variant A/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs672059
rs672059
LAMC2
1 1 183193404 intron variant G/A snv 0.57 0.700 1.000 1 2017 2017
dbSNP: rs7552841
rs7552841
PCSK9
3 0.925 0.160 1 55053079 intron variant C/T snv 0.32 0.010 1.000 1 2016 2016
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.820 0.750 4 2010 2016