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: rs735890
rs735890
WNT5B
1 1.000 0.080 12 1645258 intron variant A/G snv 0.21 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: 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: rs1219648
rs1219648
FGFR2
17 0.716 0.320 10 121586676 intron variant A/G;T snv 0.010 1.000 1 2019 2019
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: rs235768
rs235768
BMP2
8 0.807 0.160 20 6778468 missense variant A/G;T snv 0.67 0.010 < 0.001 1 2006 2006
dbSNP: rs4355801
rs4355801 		5 0.882 0.120 8 118911634 regulatory region variant A/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs784288
rs784288
MECOM
2 1.000 0.080 3 169253443 intron variant A/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs4869739
rs4869739
CCDC170
2 1.000 0.080 6 151580667 intron variant A/T snv 0.44 0.010 1.000 1 2014 2014
dbSNP: rs7975232
rs7975232
VDR
56 0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 0.030 1.000 3 2015 2019
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: rs1800012
rs1800012
COL1A1
13 0.763 0.320 17 50200388 intron variant C/A snv 0.14 0.010 1.000 1 2011 2011
dbSNP: rs201718067
rs201718067
DMD
1 1.000 0.080 X 31223083 missense variant C/A snv 7.6E-05 6.6E-05 0.010 < 0.001 1 2006 2006
dbSNP: rs72559737
rs72559737
SLC22A11
1 1.000 0.080 11 64559224 synonymous variant C/A;G snv 1.3E-02 0.010 1.000 1 2008 2008
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.040 1.000 4 2014 2018
dbSNP: rs9825174
rs9825174
XXYLT1
2 0.925 0.120 3 195118855 intron variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs12742784
rs12742784 		2 1.000 0.080 1 22355873 intergenic variant C/A;T snv 0.010 1.000 1 2020 2020
dbSNP: rs12775980
rs12775980
SVIL
1 1.000 0.080 10 29570927 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1751492
rs1751492
LEPR
1 1.000 0.080 1 65526942 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs200928985
rs200928985
DMD
1 1.000 0.080 X 31223056 missense variant C/A;T snv 4.4E-05; 1.1E-05 0.010 < 0.001 1 2006 2006
dbSNP: rs2393799
rs2393799
P2RX7 ; LOC105370032
3 0.882 0.200 12 121132209 upstream gene variant C/A;T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.020 0.500 2 2014 2019
dbSNP: rs2230911
rs2230911
P2RX7 ; LOC105370032
6 0.807 0.360 12 121177328 missense variant C/G snv 0.14 0.12 0.010 < 0.001 1 2017 2017
dbSNP: rs145438594
rs145438594
VDR
1 1.000 0.080 12 47879073 missense variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2069849
rs2069849
IL6
3 0.882 0.120 7 22731537 missense variant C/G;T snv 4.4E-02 0.010 1.000 1 2019 2019