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: 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: rs1334099693
rs1334099693
SOX4
11 0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06 0.700 1.000 1 2019 2019
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: 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: rs6563
rs6563
NOTCH1
1 9 136494732 3 prime UTR variant A/G snv 0.51 0.010 1.000 1 2019 2019
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: 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: rs1555223259
rs1555223259
TBX5
3 1.000 0.080 12 114355868 stop gained G/C snv 0.700 1.000 1 2018 2018
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: rs7207109
rs7207109
HOXB1
2 1.000 0.080 17 48530455 synonymous variant C/T snv 0.18 0.18 0.010 1.000 1 2018 2018
dbSNP: rs755273705
rs755273705
EVC
1 4 5729349 missense variant C/G;T snv 2.0E-05 0.010 1.000 1 2018 2018
dbSNP: rs796052728
rs796052728
MEF2C
2 1.000 0.080 5 88823746 missense variant G/A snv 0.010 1.000 1 2018 2018
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: rs113331868
rs113331868
CAMK2A
6 5 150228191 splice donor variant C/A;T snv 0.700 1.000 1 2017 2017
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: rs771150933
rs771150933
MESP1
2 1.000 0.080 15 89750880 stop gained G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1057516039
rs1057516039
KMT2D
5 0.882 0.280 12 49029400 splice donor variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057516047
rs1057516047
TTC7A ; STPG4
4 0.882 0.120 2 47073816 stop gained C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs2164331
rs2164331
DARS1
1 2 135910326 intron variant C/T snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs309143
rs309143
DARS1
1 2 135956608 intron variant A/G snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs6738266
rs6738266
DARS1 ; DARS-AS1
1 2 135985602 5 prime UTR variant C/T snv 2.8E-02 2.8E-02 0.010 1.000 1 2016 2016
dbSNP: rs703752
rs703752
NKX2-5
1 5 173232508 3 prime UTR variant C/A;G snv 0.010 1.000 1 2016 2016
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