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: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2014 2014
dbSNP: rs10465885
rs10465885
GJA5 ; LOC102723321
4 0.882 0.080 1 147760632 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs11067075
rs11067075
TBX5
1 12 114361761 intron variant C/A snv 1.2E-03 0.010 1.000 1 2009 2009
dbSNP: rs11665469
rs11665469
NFATC1
1 18 79454468 intron variant C/T snv 0.30 0.010 1.000 1 2013 2013
dbSNP: rs1185861796
rs1185861796
GATA4
2 1.000 0.080 8 11758339 missense variant C/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs12190287
rs12190287
TCF21
19 0.708 0.280 6 133893387 3 prime UTR variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs121918466
rs121918466
PTPN11
14 0.752 0.280 12 112450416 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs1357911800
rs1357911800
SALL4
1 20 51790094 missense variant T/A snv 0.010 1.000 1 2010 2010
dbSNP: rs1383180
rs1383180
CRMP1 ; EVC
1 4 5783715 missense variant G/A;T snv 0.35; 2.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs146017816
rs146017816
GATA4
2 1.000 8 11758471 missense variant C/G;T snv 7.2E-05; 1.6E-05 0.010 1.000 1 2009 2009
dbSNP: rs151297824
rs151297824
SALL4
1 20 51791897 missense variant G/A snv 2.8E-05 2.1E-05 0.010 1.000 1 2010 2010
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 2019 2019
dbSNP: rs1555896779
rs1555896779
GATA5
2 1.000 20 62473507 missense variant G/C snv 0.010 1.000 1 2013 2013
dbSNP: rs1701
rs1701
BAHCC1 ; MIR4740
1 17 81402198 non coding transcript exon variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs177415
rs177415
PSEN1
2 1.000 0.040 14 73211255 intron variant T/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs1800844
rs1800844
PSEN1
2 1.000 0.040 14 73136992 5 prime UTR variant G/A;C snv 0.010 1.000 1 2011 2011
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 2019 2019
dbSNP: rs181317402
rs181317402
GDF1 ; CERS1
3 0.925 0.080 19 18896591 5 prime UTR variant A/C snv 2.1E-03 0.010 1.000 1 2019 2019
dbSNP: rs2164331
rs2164331
DARS1
1 2 135910326 intron variant C/T snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs2228638
rs2228638
NRP1
3 1.000 0.080 10 33186354 missense variant C/T snv 0.12 9.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs2277923
rs2277923
NKX2-5
13 0.752 0.160 5 173235021 synonymous variant T/C snv 0.41 0.44 0.010 1.000 1 2018 2018
dbSNP: rs2289263
rs2289263
SMAD3
3 0.925 0.120 15 67146869 intron variant T/G snv 0.43 0.010 1.000 1 2015 2015
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2013 2013
dbSNP: rs309143
rs309143
DARS1
1 2 135956608 intron variant A/G snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs368489876
rs368489876
GATA4
2 1.000 8 11757012 missense variant G/A snv 4.4E-05 2.1E-05 0.010 1.000 1 2009 2009