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: rs6993770
rs6993770
ZFPM2 ; ZFPM2-AS1
9 0.925 0.080 8 105569300 intron variant A/T snv 0.31 0.020 1.000 2 2018 2018
dbSNP: rs6606697
rs6606697
ACACB
1 1.000 0.040 12 109173915 intron variant A/G snv 0.48 0.010 1.000 1 2010 2010
dbSNP: rs4766587
rs4766587
ACACB
1 1.000 0.040 12 109247525 intron variant G/A snv 0.23 0.010 1.000 1 2010 2010
dbSNP: rs1411766
rs1411766
LOC101927627
3 0.882 0.160 13 109599813 intron variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1324805
rs1324805
ACSL4
1 1.000 0.040 X 109719433 intron variant A/G snv 0.45 0.010 1.000 1 2009 2009
dbSNP: rs2289046
rs2289046
IRS2
5 0.827 0.240 13 109755559 3 prime UTR variant T/C snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs9925481
rs9925481
CLEC16A
5 0.882 0.160 16 11003622 intron variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs3813829
rs3813829
ELOVL6
2 0.925 0.080 4 110199010 intron variant A/G snv 0.34 0.010 1.000 1 2014 2014
dbSNP: rs10849915
rs10849915
CCDC63
3 0.925 0.080 12 110895818 intron variant T/C snv 0.39 0.700 1.000 1 2018 2018
dbSNP: rs11065756
rs11065756
CCDC63
3 0.925 0.080 12 110900990 intron variant C/T snv 6.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs3782889
rs3782889
MYL2
5 0.851 0.160 12 110912851 intron variant A/G snv 7.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs376207800
rs376207800
LDLR
3 0.882 0.080 19 11100340 missense variant C/G;T snv 1.2E-04 0.010 1.000 1 2008 2008
dbSNP: rs879254725
rs879254725
LDLR
2 0.925 0.080 19 11107508 stop gained G/T snv 0.010 1.000 1 2008 2008
dbSNP: rs879254728
rs879254728
LDLR
3 0.882 0.080 19 11107511 missense variant T/C;G snv 0.010 1.000 1 2008 2008
dbSNP: rs768925824
rs768925824
LDLR
4 0.925 0.040 19 11110693 missense variant G/A snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs370471092
rs370471092
LDLR
4 0.925 0.080 19 11110768 stop gained G/A;T snv 6.0E-05 0.010 1.000 1 2008 2008
dbSNP: rs760034984
rs760034984
LDLR
1 1.000 0.040 19 11120434 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs3782886
rs3782886
BRAP
22 0.724 0.480 12 111672685 synonymous variant T/C snv 1.9E-02 5.9E-03 0.010 1.000 1 2013 2013
dbSNP: rs11066001
rs11066001
BRAP
15 0.763 0.360 12 111681367 intron variant T/C snv 5.8E-03 0.010 1.000 1 2013 2013
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.710 1.000 1 2017 2017
dbSNP: rs7819412
rs7819412
XKR6
6 0.827 0.120 8 11187652 intron variant G/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs2230774
rs2230774
ROCK2
12 0.807 0.240 2 11218994 missense variant G/C;T snv 0.49 0.010 1.000 1 2015 2015
dbSNP: rs2074356
rs2074356
HECTD4
18 0.763 0.280 12 112207597 intron variant G/A snv 3.8E-03 0.700 1.000 1 2018 2018
dbSNP: rs11066194
rs11066194
HECTD4
1 1.000 0.040 12 112212323 intron variant A/G snv 4.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs11066280
rs11066280
HECTD4
27 0.742 0.280 12 112379979 intron variant T/A snv 7.0E-03 0.700 1.000 1 2014 2014