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: rs3755955
rs3755955
IDUA
4 0.925 0.080 4 1000626 missense variant G/A;C snv 0.16; 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs6831280
rs6831280
IDUA
4 0.925 0.080 4 1002377 missense variant G/A;C snv 0.17 0.010 1.000 1 2019 2019
dbSNP: rs2278729
rs2278729
TBC1D8
1 1.000 0.080 2 101052395 intron variant G/A snv 0.25 0.810 1.000 2 2010 2017
dbSNP: rs17651
rs17651
ISG15
1 1.000 0.080 1 1014228 missense variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs972936
rs972936
IGF1 ; LINC02456
12 0.807 0.200 12 102431143 intron variant T/C snv 0.70 0.010 < 0.001 1 2015 2015
dbSNP: rs1255801434
rs1255801434
SLCO6A1
1 1.000 0.080 5 102438650 missense variant T/C snv 4.3E-06 0.010 1.000 1 2012 2012
dbSNP: rs2288377
rs2288377
IGF1 ; LOC105369944
2 0.925 0.080 12 102480984 intron variant A/G;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs35767
rs35767
IGF1 ; LOC105369944
13 0.763 0.360 12 102481791 upstream gene variant A/C;G;T snv 0.040 1.000 4 2015 2018
dbSNP: rs3759579
rs3759579
MARK3
2 0.925 0.120 14 103384935 upstream gene variant A/G snv 0.55 0.010 1.000 1 2018 2018
dbSNP: rs2273061
rs2273061
JAG1
3 1.000 0.080 20 10658895 intron variant G/A snv 0.46 0.010 1.000 1 2011 2011
dbSNP: rs768623239
rs768623239
GSTM1 ; GSTM2
26 0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05 0.010 1.000 1 2014 2014
dbSNP: rs7483
rs7483
GSTM3 ; GSTM5
11 0.742 0.320 1 109737079 missense variant C/T snv 4.0E-06; 0.35 0.26 0.010 1.000 1 2012 2012
dbSNP: rs1800544
rs1800544
ADRA2A
12 0.790 0.160 10 111076745 upstream gene variant G/C snv 0.59 0.020 1.000 2 2015 2018
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.010 1.000 1 2016 2016
dbSNP: rs494453
rs494453
RAP1A ; KRT18P57
1 1.000 0.080 1 111649500 non coding transcript exon variant T/C snv 0.41 0.800 1.000 1 2010 2010
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.020 1.000 2 2012 2017
dbSNP: rs2071375
rs2071375
IL1A
1 1.000 0.080 2 112777861 intron variant C/T snv 0.26 0.010 1.000 1 2012 2012
dbSNP: rs12673692
rs12673692
THSD7A
2 0.925 0.120 7 11528903 intron variant G/A snv 0.30 0.010 1.000 1 2013 2013
dbSNP: rs140121121
rs140121121
PLS3
1 1.000 0.080 X 115629281 synonymous variant T/A snv 1.5E-02 1.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs2178950
rs2178950
TRPS1
2 0.925 0.120 8 115640791 intron variant G/C snv 0.51 0.010 1.000 1 2018 2018
dbSNP: rs758675549
rs758675549
CFTR
2 0.925 0.200 7 117530938 missense variant A/G snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1057317
rs1057317
TLR4
5 0.827 0.160 9 117715764 3 prime UTR variant C/A snv 0.010 1.000 1 2019 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2012 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 1.000 5 2003 2014
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2007 2007