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: rs2854744
rs2854744
IGFBP3
20 0.695 0.520 7 45921476 intron variant G/T snv 0.48 0.010 1.000 1 2013 2013
dbSNP: rs113340062
rs113340062
MATN2
1 1.000 0.080 8 97891932 intron variant T/C snv 6.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs12336160
rs12336160 		2 0.925 0.120 9 33283584 downstream gene variant G/T snv 6.3E-02 0.800 1.000 1 2010 2010
dbSNP: rs2383204
rs2383204
CDKN2B-AS1
6 0.827 0.160 9 22055049 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs79721419
rs79721419 		4 0.851 0.160 9 22200957 downstream gene variant G/A snv 7.4E-03 0.010 1.000 1 2019 2019
dbSNP: rs10835054
rs10835054
SLC5A12
1 1.000 0.080 11 26670117 3 prime UTR variant C/T snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs735665
rs735665
GRAMD1B
8 0.776 0.280 11 123490689 intron variant G/A snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.040 0.750 4 2003 2016
dbSNP: rs10861905
rs10861905 		2 0.925 0.120 12 108373556 regulatory region variant C/A snv 7.6E-02 0.800 1.000 1 2010 2010
dbSNP: rs2682826
rs2682826
NOS1
11 0.807 0.280 12 117215033 3 prime UTR variant G/A snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs41279104
rs41279104
NOS1
6 0.827 0.160 12 117439680 intron variant C/T snv 0.11 0.010 1.000 1 2014 2014
dbSNP: rs7176508
rs7176508
DRAIC
4 0.851 0.280 15 69726651 intron variant A/G snv 0.67 0.700 1.000 1 2012 2012
dbSNP: rs140186760
rs140186760
CDH13 ; LOC101928417
1 1.000 0.080 16 82961263 intron variant G/A snv 7.4E-03 0.700 1.000 1 2019 2019
dbSNP: rs305061
rs305061 		4 0.851 0.280 16 85942053 intron variant C/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs391525
rs391525
IRF8
3 0.882 0.200 16 85910833 intron variant A/G;T snv 0.35 0.700 1.000 1 2012 2012
dbSNP: rs1415088003
rs1415088003
ACE
7 0.827 0.160 17 63489038 synonymous variant C/T snv 4.0E-06 0.020 1.000 2 2010 2016
dbSNP: rs121918071
rs121918071
TTR
4 0.882 0.240 18 31595209 missense variant C/A snv 0.010 1.000 1 2019 2019
dbSNP: rs267607161
rs267607161
TTR
16 0.742 0.360 18 31598580 missense variant G/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs7064929
rs7064929
ZC3H12B
2 0.925 0.120 X 65147139 intergenic variant G/A snv 0.25 0.800 1.000 1 2010 2010