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: rs397516089
rs397516089
MYH7
6 0.827 0.080 14 23429807 missense variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs5219
rs5219
KCNJ11
25 0.701 0.360 11 17388025 stop gained T/A;C snv 0.64 0.010 1.000 1 2009 2009
dbSNP: rs5370
rs5370
EDN1
37 0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21 0.010 1.000 1 2009 2009
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.060 1.000 6 2010 2018
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.020 0.500 2 2010 2018
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.020 1.000 2 2010 2014
dbSNP: rs10519210
rs10519210 		1 1.000 0.040 15 63445726 intergenic variant T/C;G snv 0.800 1.000 1 2010 2010
dbSNP: rs11172782
rs11172782 		1 1.000 0.040 12 58865846 intergenic variant A/G snv 0.12 0.800 1.000 1 2010 2010
dbSNP: rs12638540
rs12638540
CMTM7
1 1.000 0.040 3 32447042 intron variant A/G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs1337916669
rs1337916669
HFE ; LOC108783645
2 0.925 0.040 6 26092879 missense variant G/T snv 0.010 1.000 1 2010 2010
dbSNP: rs1520832
rs1520832 		1 1.000 0.040 12 42859612 regulatory region variant T/C;G snv 0.800 1.000 1 2010 2010
dbSNP: rs1739843
rs1739843
HSPB7
4 0.882 0.040 1 16016759 intron variant T/C snv 0.62 0.010 1.000 1 2010 2010
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
32 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2010 2010
dbSNP: rs1805127
rs1805127
KCNE1
17 0.732 0.240 21 34449523 missense variant T/C snv 0.64 2.0E-04 0.010 1.000 1 2010 2010
dbSNP: rs2125623
rs2125623
OTUD7A
1 1.000 0.040 15 31537504 intron variant C/T snv 0.33 0.800 1.000 1 2010 2010
dbSNP: rs2210327
rs2210327
ADAMTSL1
1 1.000 0.040 9 18109237 intron variant A/T snv 3.4E-02 0.800 1.000 1 2010 2010
dbSNP: rs267607499
rs267607499
DES
4 0.851 0.160 2 219418809 missense variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs28763958
rs28763958
DSP
3 0.882 0.080 6 7558186 missense variant A/G snv 6.4E-05 2.8E-05 0.010 1.000 1 2010 2010
dbSNP: rs4528684
rs4528684 		1 1.000 0.040 19 14240762 intergenic variant C/T snv 0.12 0.800 1.000 1 2010 2010
dbSNP: rs548097
rs548097 		1 1.000 0.040 13 75202132 intergenic variant G/C;T snv 0.800 1.000 1 2010 2010
dbSNP: rs6787362
rs6787362
FRMD4B
2 0.925 0.040 3 69178228 intron variant A/G snv 9.3E-02 0.010 1.000 1 2010 2010
dbSNP: rs762151808
rs762151808
SERPINA1
2 0.925 0.040 14 94378559 missense variant A/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs10927887
rs10927887
CLCNKA
3 0.925 0.040 1 16024780 missense variant A/C;G snv 0.55 0.020 1.000 2 2011 2013
dbSNP: rs3745297
rs3745297
HRC
10 0.790 0.120 19 49154952 missense variant A/C snv 0.41 0.38 0.020 1.000 2 2011 2018
dbSNP: rs1028728
rs1028728
POSTN
3 0.925 0.040 13 37599679 upstream gene variant A/T snv 0.20 0.010 1.000 1 2011 2011