Source: BEFREE ×
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: rs2681472
rs2681472
ATP2B1
1 0.882 0.080 12 89615182 intron variant A/G snv 0.14 0.860 1.000 6 2009 2019
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
201 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.840 1.000 4 2011 2019
dbSNP: rs13333226
rs13333226
UMOD
6 0.827 0.200 16 20354332 intron variant A/G snv 0.23 0.810 1.000 1 2010 2016
dbSNP: rs2932538
rs2932538
MOV10
1 1 112673921 intron variant A/C;G snv 0.810 1.000 1 2011 2013
dbSNP: rs4373814
rs4373814 		1 10 18131043 intergenic variant G/C;T snv 0.810 1.000 1 2011 2013
dbSNP: rs6596140
rs6596140
FSTL4
1 5 133686160 intergenic variant C/T snv 0.34 0.810 1.000 1 2012 2012
dbSNP: rs17249754
rs17249754
ATP2B1
6 0.882 0.120 12 89666809 intron variant G/A snv 0.15 0.800 0.929 11 2010 2019
dbSNP: rs11191548
rs11191548
CNNM2
4 0.882 0.080 10 103086421 3 prime UTR variant T/C snv 8.6E-02 0.780 1.000 8 2011 2018
dbSNP: rs1004467
rs1004467
CYP17A1 ; CYP17A1-AS1
6 0.790 0.280 10 102834750 non coding transcript exon variant A/G snv 0.15 0.14 0.760 0.857 6 2011 2018
dbSNP: rs16998073
rs16998073 		2 0.925 0.120 4 80263187 upstream gene variant A/G;T snv 0.760 0.857 6 2010 2018
dbSNP: rs11066280
rs11066280
HECTD4
10 0.742 0.280 12 112379979 intron variant T/A snv 7.0E-03 0.710 1.000 1 2014 2015
dbSNP: rs1401982
rs1401982
ATP2B1
1 12 89595822 intron variant G/A snv 0.60 0.710 1.000 1 2013 2018
dbSNP: rs1458038
rs1458038 		2 0.925 0.120 4 80243569 intergenic variant C/T snv 0.23 0.710 1.000 1 2015 2018
dbSNP: rs2681492
rs2681492
ATP2B1
1 0.925 0.040 12 89619312 intron variant T/C;G snv 0.710 1.000 1 2013 2018
dbSNP: rs403814
rs403814
L3MBTL4
1 18 6282594 intron variant A/C snv 0.27 0.710 1.000 1 2016 2016
dbSNP: rs429358
rs429358
APOE
43 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.710 1.000 1 2019 2019
dbSNP: rs786205050
rs786205050
CACNA1H
4 0.827 0.080 16 1212024 missense variant A/G snv 7.0E-06 0.710 1.000 1 2016 2016
dbSNP: rs820430
rs820430 		1 3 27507409 regulatory region variant A/G snv 0.30 0.710 1.000 1 2015 2018
dbSNP: rs9791170
rs9791170
P4HA2
1 5 132233934 intron variant T/C snv 0.59 0.710 1.000 1 2009 2009
dbSNP: rs699
rs699
AGT
131 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.100 0.865 89 1994 2019
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.100 0.891 46 1998 2018
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.100 0.927 41 1999 2017
dbSNP: rs4961
rs4961
ADD1
27 0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20 0.100 0.842 38 1998 2020
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.862 29 1998 2019
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.100 0.786 28 1997 2015