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: rs1888747
rs1888747
FRMD3
2 1.000 0.120 9 83540636 upstream gene variant C/G snv 0.78 0.010 1.000 1 2016 2016
dbSNP: rs426496
rs426496
AQP2 ; LOC101927318
3 1.000 0.040 12 49954295 synonymous variant T/C snv 0.77 0.71 0.010 1.000 1 2016 2016
dbSNP: rs4994
rs4994
ADRB3
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.010 1.000 1 2016 2016
dbSNP: rs739401
rs739401
CARS1
2 11 3015094 intron variant C/T snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs741301
rs741301
ELMO1
3 0.925 0.160 7 36878390 intron variant C/T snv 0.59 0.010 1.000 1 2016 2016
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.100 0.909 11 2007 2015
dbSNP: rs2268388
rs2268388
ACACB
6 0.851 0.200 12 109205840 intron variant G/A snv 0.14 0.040 1.000 4 2013 2015
dbSNP: rs1025423410
rs1025423410
TLR1
1 4 38798831 start lost T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
11 0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05 0.010 1.000 1 2015 2015
dbSNP: rs121908117
rs121908117
TREX1 ; ATRIP ; ATRIP-TREX1
17 0.708 0.440 3 48466707 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs12917707
rs12917707
UMOD
11 0.827 0.200 16 20356368 upstream gene variant G/T snv 0.14 0.010 < 0.001 1 2015 2015
dbSNP: rs1317776692
rs1317776692
INF2
1 14 104701619 missense variant C/G;T snv 4.4E-06 0.010 1.000 1 2015 2015
dbSNP: rs1617640
rs1617640
EPO
15 0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs2053044
rs2053044
ADRB2
5 1.000 0.040 5 148825809 5 prime UTR variant A/G snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs3764880
rs3764880
TLR8 ; TLR8-AS1
11 0.752 0.320 X 12906707 start lost A/G snv 0.31 0.30 0.010 1.000 1 2015 2015
dbSNP: rs3923647
rs3923647
TLR1
3 0.925 0.080 4 38797918 missense variant T/A;C;G snv 2.7E-02; 4.0E-06; 1.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs4833095
rs4833095
TLR1
28 0.662 0.480 4 38798089 missense variant T/C snv 0.38 0.44 0.010 1.000 1 2015 2015
dbSNP: rs74421874
rs74421874
PSMD9
14 0.776 0.360 12 121902546 non coding transcript exon variant G/A snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs776400293
rs776400293
TLR3
1 4 186076620 start lost A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs9932581
rs9932581
CYBA ; MVD
1 16 88651945 3 prime UTR variant C/T snv 0.39 0.010 1.000 1 2015 2015
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.100 1.000 15 1996 2014
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.080 1.000 8 1999 2014
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.030 1.000 3 2001 2014
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2004 2014
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.020 1.000 2 2009 2014