Source: CURATED ×
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: rs1466535
rs1466535
LRP1
1 0.790 0.160 12 57140687 intron variant G/A;C snv 0.840 1.000 1 2011 2015
dbSNP: rs6511720
rs6511720
LDLR
13 0.790 0.120 19 11091630 intron variant G/T snv 0.12 0.810 1.000 2 2013 2017
dbSNP: rs7025486
rs7025486
DAB2IP
1 0.851 0.040 9 121660124 intron variant G/A snv 0.28 0.810 1.000 1 2010 2010
dbSNP: rs2383207
rs2383207
CDKN2B-AS1
7 0.695 0.280 9 22115960 intron variant A/G snv 0.64 0.800 1.000 1 2010 2010
dbSNP: rs2836411
rs2836411
ERG
1 1.000 0.040 21 38447907 intron variant C/A;T snv 0.720 1.000 1 2017 2020
dbSNP: rs1795061
rs1795061 		1 1.000 0.040 1 214235937 intergenic variant T/C;G snv 0.710 0.500 1 2017 2020
dbSNP: rs3019885
rs3019885
SLC30A8
2 0.925 0.120 8 117013406 intron variant T/A;G snv 0.710 1.000 1 2011 2015
dbSNP: rs9316871
rs9316871 		1 1.000 0.040 13 22287782 intergenic variant A/G snv 0.22 0.710 0.500 1 2017 2020
dbSNP: rs10757274
rs10757274
CDKN2B-AS1
3 0.701 0.320 9 22096056 intron variant A/G snv 0.41 0.700 1.000 1 2017 2017
dbSNP: rs10985349
rs10985349
DAB2IP
1 1.000 0.040 9 121662964 intron variant C/T snv 0.17 0.700 1.000 1 2017 2017
dbSNP: rs12133641
rs12133641
IL6R
3 0.925 0.040 1 154455807 intron variant A/G snv 0.44 0.700 1.000 1 2017 2017
dbSNP: rs13382862
rs13382862
LDAH
1 1.000 0.040 2 20682689 upstream gene variant A/G;T snv 0.59 0.700 1.000 1 2017 2017
dbSNP: rs1385526
rs1385526
LRP1
1 1.000 0.040 12 57138966 intron variant G/C snv 0.26 0.700 1.000 1 2017 2017
dbSNP: rs58749629
rs58749629
PCIF1
1 1.000 0.040 20 45942678 intron variant G/A;T snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs595244
rs595244
FBN1
3 0.882 0.080 15 48548638 intron variant C/T snv 7.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs602633
rs602633 		10 0.851 0.080 1 109278889 downstream gene variant T/G snv 0.63 0.700 1.000 1 2017 2017
dbSNP: rs7866503
rs7866503
CDKN2B-AS1
3 0.882 0.080 9 22091925 intron variant G/T snv 0.50 0.700 1.000 1 2016 2016
dbSNP: rs8087799
rs8087799 		3 0.882 0.080 18 22605468 regulatory region variant G/A snv 0.43 0.700 1.000 1 2016 2016
dbSNP: rs919433
rs919433
ANKRD44 ; ANKRD44-IT1
3 0.882 0.080 2 197301841 intron variant G/A snv 0.38 0.700 1.000 1 2016 2016