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: rs12921862
rs12921862
AXIN1
10 0.763 0.200 16 331927 intron variant C/A snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs1343372308
rs1343372308
MYH7 ; MHRT
2 14 23413792 missense variant C/G snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs145536528
rs145536528
SLU7
3 1.000 5 160413521 missense variant G/A snv 1.6E-05 3.5E-05 0.010 1.000 1 2013 2013
dbSNP: rs145687528
rs145687528
PBX3
1 9 125915818 missense variant C/T snv 7.2E-03 6.1E-03 0.010 1.000 1 2012 2012
dbSNP: rs1532268
rs1532268
MTRR
12 0.776 0.280 5 7878066 missense variant C/T snv 0.31 0.32 0.010 1.000 1 2011 2011
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2008 2008
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2007 2007
dbSNP: rs200478425
rs200478425
G6PC3
2 1.000 0.040 17 44075780 missense variant G/A;C snv 4.0E-06; 5.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs2234584
rs2234584
WT1
5 0.882 0.240 11 32428521 missense variant G/A;T snv 3.9E-04; 2.8E-05 0.010 1.000 1 2004 2004
dbSNP: rs2850144
rs2850144
CBS
1 21 43076866 5 prime UTR variant C/G snv 0.88 0.010 1.000 1 2017 2017
dbSNP: rs3832879
rs3832879
FGF23
2 12 4372733 non coding transcript exon variant -/A;G ins 4.0E-06; 0.12; 4.0E-06; 4.0E-06 0.10 0.010 1.000 1 2013 2013
dbSNP: rs387906772
rs387906772
GATA4
3 1.000 0.080 8 11755064 missense variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs398123001
rs398123001
PUF60
4 0.925 8 143818378 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs4343
rs4343
ACE
14 0.742 0.480 17 63488670 synonymous variant G/A snv 0.53 0.010 1.000 1 2017 2017
dbSNP: rs4720169
rs4720169
TBX20
2 1.000 0.040 7 35247689 intron variant G/A snv 0.53 0.010 1.000 1 2019 2019
dbSNP: rs4808863
rs4808863
GDF1 ; CERS1
5 0.851 0.080 19 18869363 missense variant G/A snv 0.37 0.30 0.010 1.000 1 2015 2015
dbSNP: rs492842
rs492842
BHMT ; DMGDH
1 5 79114164 intron variant C/T snv 0.59 0.010 1.000 1 2017 2017
dbSNP: rs542852
rs542852
BHMT ; DMGDH
1 5 79113573 intron variant T/C snv 0.63 0.010 1.000 1 2017 2017
dbSNP: rs57920071
rs57920071
LMNA
11 0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs58034145
rs58034145
LMNA
10 0.827 0.160 1 156134830 missense variant A/C snv 0.010 1.000 1 2019 2019
dbSNP: rs6602178
rs6602178
TRDMT1
1 10 17138170 3 prime UTR variant A/C snv 0.51 0.010 1.000 1 2017 2017
dbSNP: rs7294985
rs7294985
MGST1
1 12 16349610 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs763679435
rs763679435
TSHR ; LOC101928462
4 0.882 0.120 14 81143883 stop gained C/T snv 4.0E-06 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs76992529
rs76992529
TTR
36 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.010 1.000 1 2015 2015
dbSNP: rs7941395
rs7941395 		1 11 67579946 upstream gene variant A/G snv 0.38 0.010 1.000 1 2017 2017