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: rs1163944538
rs1163944538
TMEM94
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
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: rs137852813
rs137852813
SOS1
11 0.807 0.200 2 39051202 missense variant A/C;G snv 0.700 1.000 5 2007 2011
dbSNP: rs121918455
rs121918455
PTPN11
31 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
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: rs121918466
rs121918466
PTPN11
14 0.752 0.280 12 112450416 missense variant A/G snv 0.010 1.000 1 2007 2007
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: rs309143
rs309143
DARS1
1 2 135956608 intron variant A/G snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs3762977
rs3762977
ISL1 ; LOC642366
1 5 51383180 non coding transcript exon variant A/G snv 0.15 0.010 1.000 1 2013 2013
dbSNP: rs6563
rs6563
NOTCH1
1 9 136494732 3 prime UTR variant A/G snv 0.51 0.010 1.000 1 2019 2019
dbSNP: rs754369510
rs754369510
NUP214
3 0.925 0.040 9 131134988 missense variant A/G snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1565569158
rs1565569158
ATN1
4 12 6939148 missense variant A/G snv 0.700 0
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: rs1057518868
rs1057518868
FOXF1 ; FENDRR
3 0.925 0.080 16 86510849 missense variant A/T snv 0.700 0
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: rs1555564126
rs1555564126
EFTUD2
9 0.882 0.320 17 44853306 frameshift variant C/- delins 0.700 0
dbSNP: rs11067075
rs11067075
TBX5
1 12 114361761 intron variant C/A snv 1.2E-03 0.010 1.000 1 2009 2009
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: rs1555038029
rs1555038029
KMT2A
12 0.776 0.400 11 118477973 stop gained C/A snv 0.700 0
dbSNP: rs703752
rs703752
NKX2-5
1 5 173232508 3 prime UTR variant C/A;G snv 0.010 1.000 1 2016 2016
dbSNP: rs804280
rs804280
GATA4
6 0.882 0.120 8 11755189 intron variant C/A;G snv 0.010 1.000 1 2015 2015
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: rs483352822
rs483352822
RIT1
16 0.776 0.360 1 155904470 stop lost C/A;G;T snv 0.700 0
dbSNP: rs113331868
rs113331868
CAMK2A
6 5 150228191 splice donor variant C/A;T snv 0.700 1.000 1 2017 2017