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: rs980112
rs980112
KLF10
3 0.882 0.080 8 102653285 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs9714060
rs9714060
MUC4
1 1.000 0.080 3 195760605 intron variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs964184
rs964184
ZPR1
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.010 1.000 1 2020 2020
dbSNP: rs953038635
rs953038635
SOD2
51 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs9494145
rs9494145 		11 0.925 0.080 6 135111414 intergenic variant T/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs9399137
rs9399137
HBS1L
13 0.851 0.320 6 135097880 intron variant T/C snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs9324918
rs9324918
NR3C1
1 1.000 0.080 5 143387595 intron variant T/C snv 0.15 0.010 1.000 1 2018 2018
dbSNP: rs920829
rs920829
TRPA1 ; MSC-AS1
3 0.925 0.160 8 72065468 missense variant C/T snv 0.14 0.16 0.010 1.000 1 2018 2018
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.020 1.000 2 2006 2013
dbSNP: rs887829
rs887829
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
18 0.763 0.280 2 233759924 intron variant C/T snv 0.36 0.700 1.000 1 2012 2012
dbSNP: rs886040983
rs886040983
CHD7
2 0.925 0.120 8 60822504 stop gained C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs876660446
rs876660446
FH
2 1.000 0.080 1 241502559 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs8175347
rs8175347
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
16 0.708 0.400 2 233760234 intron variant TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA delins 0.010 1.000 1 2019 2019
dbSNP: rs80356821
rs80356821
HBB
3 0.882 0.080 11 5226763 frameshift variant AGAA/- delins 0.700 0
dbSNP: rs8007267
rs8007267 		6 0.882 0.200 14 54912273 intergenic variant C/T snv 0.31 0.010 1.000 1 2014 2014
dbSNP: rs7952106
rs7952106 		2 1.000 0.080 11 113553836 regulatory region variant G/T snv 0.71 0.700 1.000 1 2013 2013
dbSNP: rs7948471
rs7948471
HBE1 ; HBG2 ; OR51B5 ; OR51I2
1 1.000 0.080 11 5450516 intron variant G/A snv 0.47 0.700 1.000 1 2013 2013
dbSNP: rs777919630
rs777919630
CBS
40 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs774366679
rs774366679
PAX5
1 1.000 0.080 9 36846883 missense variant C/T snv 2.0E-05 2.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs768272475
rs768272475
SOAT1
2 0.925 0.240 1 179345018 synonymous variant A/G snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs766432
rs766432
BCL11A
6 0.925 0.080 2 60492835 intron variant C/A snv 0.80 0.700 1.000 3 2011 2014
dbSNP: rs7606173
rs7606173
BCL11A
5 1.000 0.080 2 60498316 intron variant G/C;T snv 0.39 0.700 1.000 1 2011 2011
dbSNP: rs7599488
rs7599488
BCL11A
4 0.925 0.120 2 60491212 intron variant C/T snv 0.42 0.700 1.000 1 2011 2011
dbSNP: rs75853687
rs75853687
LINC01847
2 0.925 0.080 5 159850278 intron variant G/A snv 1.7E-02 0.700 1.000 1 2018 2018
dbSNP: rs7584113
rs7584113
BCL11A
2 1.000 0.080 2 60494176 intron variant A/G snv 0.64 0.700 1.000 1 2011 2011