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: rs1565569158
rs1565569158
ATN1
4 12 6939148 missense variant A/G snv 0.700 0
dbSNP: rs180177039
rs180177039
BRAF
12 0.851 0.160 7 140778006 missense variant T/A;C;G snv 0.700 0
dbSNP: rs431905509
rs431905509
SLC25A1
8 0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05 0.700 0
dbSNP: rs483352822
rs483352822
RIT1
16 0.776 0.360 1 155904470 stop lost C/A;G;T snv 0.700 0
dbSNP: rs61729366
rs61729366
FRAS1
6 0.851 0.240 4 78511299 missense variant G/A snv 5.2E-03 5.8E-03 0.700 0
dbSNP: rs746800707
rs746800707
AAR2
8 0.851 0.160 20 36240388 missense variant G/A;C;T snv 1.2E-05; 4.0E-06 0.700 0
dbSNP: rs755246809
rs755246809
AHI1
7 0.827 0.280 6 135404951 frameshift variant T/- delins 5.9E-04 4.9E-05 0.700 0
dbSNP: rs759125480
rs759125480
CEP120
16 0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 0.700 0
dbSNP: rs912001256
rs912001256
SCN4A
17 0.851 0.240 17 63947062 stop gained G/A snv 0.700 0
dbSNP: rs104894073
rs104894073
GATA4
8 0.827 0.080 8 11750213 missense variant G/A;C;T snv 0.020 1.000 2 2011 2012
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2017 2019
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.020 1.000 2 2017 2019
dbSNP: rs56208331
rs56208331
GATA4
4 0.925 0.080 8 11758419 missense variant G/A;T snv 2.0E-03 0.020 0.500 2 2009 2010
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