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: rs1085307132
rs1085307132
PUF60 ; SCRIB
5 0.882 0.160 8 143817668 frameshift variant -/TTTT delins 0.700 0
dbSNP: rs132630297
rs132630297
PHF6
6 0.925 0.280 X 134425256 stop gained C/A;T snv 0.700 0
dbSNP: rs180177135
rs180177135
PALB2
27 0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 0.700 0
dbSNP: rs1057517779
rs1057517779
NR5A1
4 0.851 0.160 9 124493083 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs1064794281
rs1064794281
NR5A1
2 0.925 0.120 9 124500125 missense variant A/T snv 0.010 1.000 1 2011 2011
dbSNP: rs1110061
rs1110061
NR5A1
7 0.807 0.200 9 124500523 missense variant C/A;G snv 4.3E-06; 0.10 0.010 1.000 1 2012 2012
dbSNP: rs1110062
rs1110062
NR5A1
2 0.925 0.120 9 124500585 synonymous variant C/A;T snv 2.2E-02 0.010 1.000 1 2012 2012
dbSNP: rs745564225
rs745564225
NR5A1
2 0.925 0.120 9 124493110 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs2472680
rs2472680
NR1I2
3 0.882 0.160 3 119808929 intron variant T/C snv 0.90 0.010 1.000 1 2012 2012
dbSNP: rs1057518944
rs1057518944
NIPBL
9 0.807 0.280 5 36984990 frameshift variant CT/- delins 0.700 0
dbSNP: rs1565308384
rs1565308384
MYRF ; TMEM258
5 0.827 0.200 11 61784321 frameshift variant -/A delins 0.700 0
dbSNP: rs1565286228
rs1565286228
MYRF
6 0.807 0.200 11 61766173 frameshift variant GCACCGGGCCCCCCATC/T delins 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 0.010 < 0.001 1 2016 2016
dbSNP: rs370173998
rs370173998
MAMLD1
2 0.925 0.120 X 150470724 missense variant C/T snv 3.3E-05 7.5E-05 0.010 1.000 1 2012 2012
dbSNP: rs377263651
rs377263651
MAMLD1
3 0.882 0.120 X 150470307 missense variant A/G snv 1.1E-05 1.9E-05 0.010 1.000 1 2019 2019
dbSNP: rs781975575
rs781975575
MAMLD1
3 0.882 0.120 X 150470715 missense variant G/A snv 5.5E-06 1.9E-05 0.010 1.000 1 2019 2019
dbSNP: rs1569509136
rs1569509136
HUWE1
24 0.708 0.400 X 53647576 splice acceptor variant T/C snv 0.700 0
dbSNP: rs2066479
rs2066479
HSD17B3
7 0.790 0.160 9 96235528 missense variant C/A;G;T snv 7.2E-02 0.010 1.000 1 2010 2010
dbSNP: rs28939085
rs28939085
HSD17B3
3 0.882 0.240 9 96240885 missense variant G/A snv 2.0E-05 2.1E-05 0.010 1.000 1 2007 2007
dbSNP: rs200750564
rs200750564
HOXD13
6 0.827 0.160 2 176094518 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs3816183
rs3816183
HAAO ; MTA3
2 0.925 0.120 2 42788579 missense variant T/C snv 0.80 0.80 0.010 1.000 1 2019 2019
dbSNP: rs121918508
rs121918508
FGFR2
4 0.851 0.360 10 121488035 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs776188535
rs776188535
FGFR2
3 0.882 0.120 10 121485414 missense variant C/T snv 2.0E-05 0.010 1.000 1 2019 2019
dbSNP: rs779566502
rs779566502
FGFR2
3 0.882 0.120 10 121520026 missense variant C/T snv 1.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs1064795104
rs1064795104
EXOC6B
17 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014