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: rs1052108705
rs1052108705
POU5F1 ; TCF19
3 6 31165217 missense variant C/T snv 4.1E-06 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs1234344050
rs1234344050
COL3A1 ; LOC105373791
2 2 188984825 missense variant C/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1387329667
rs1387329667
NOTCH1
2 9 136500595 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs387906617
rs387906617
CREB1
2 2 207567506 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs587777570
rs587777570
KIF5C
4 1.000 2 148947018 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs764120087
rs764120087
EP300
2 22 41117439 missense variant G/A snv 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs768746587
rs768746587
POU5F1 ; TCF19
3 6 31165136 missense variant C/T snv 8.4E-06 0.010 1.000 1 2019 2019
dbSNP: rs4954218
rs4954218
MAP3K19
5 0.925 0.080 2 135045855 intron variant G/T snv 0.83 0.010 1.000 1 2012 2012
dbSNP: rs587777108
rs587777108
ATL3 ; LOC107984336
5 0.925 0.080 11 63646550 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs104894232
rs104894232
PUS3 ; HYLS1
4 0.925 0.160 11 125900000 missense variant A/G snv 1.1E-03 1.0E-03 0.010 1.000 1 2016 2016
dbSNP: rs121918214
rs121918214
FTO
3 1.000 0.200 16 53873837 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs745616565
rs745616565
FTO
3 1.000 0.200 16 53873855 missense variant G/A snv 1.6E-05 2.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs7650466
rs7650466
EPHA3
7 0.851 0.200 3 89481208 3 prime UTR variant C/T snv 0.23 0.010 1.000 1 2018 2018
dbSNP: rs781028867
rs781028867
FTO
3 1.000 0.200 16 53873846 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs786201044
rs786201044
PTEN
8 0.827 0.200 10 87933165 missense variant T/C snv 0.010 1.000 1 2007 2007
dbSNP: rs1359880314
rs1359880314
SLC19A1
12 0.763 0.320 21 45534541 synonymous variant C/T snv 1.6E-05 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs397514606
rs397514606
AKT3
14 0.763 0.320 1 243695714 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs397514698
rs397514698
GNAQ
52 0.667 0.400 9 77797577 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs368087026
rs368087026
SLC19A1
33 0.637 0.520 21 45530890 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs77543610
rs77543610
FGFR2
28 0.667 0.560 10 121520160 missense variant G/C snv 0.010 1.000 1 2008 2008
dbSNP: rs775144154
rs775144154
SLC19A1
38 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs2236225
rs2236225
MTHFD1
52 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.010 1.000 1 2017 2017
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2018 2018
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2017 2018