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: 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: rs7605378
rs7605378
FTCDNL1
2 0.925 0.120 2 199812203 intron variant A/C snv 0.64 0.830 1.000 3 2011 2015
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: rs12585014
rs12585014
TNFSF11
2 1.000 0.080 13 42566423 intron variant G/A snv 0.18 0.020 0.500 2 2018 2019
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: 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: rs10085588
rs10085588
SEM1 ; LOC105375411 ; LOC105375412
3 1.000 0.080 7 96508362 intron variant A/G snv 0.72 0.010 1.000 1 2019 2019
dbSNP: rs10203122
rs10203122
FTCDNL1
1 1.000 0.080 2 199831723 intron variant T/C snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs1038304
rs1038304
CCDC170 ; LOC107986528
4 0.882 0.160 6 151612040 intron variant A/G snv 0.58 0.010 1.000 1 2011 2011
dbSNP: rs10832915
rs10832915
SAA1
1 1.000 0.080 11 18269516 intron variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs11872467
rs11872467
RAB31
1 1.000 0.080 18 9848005 intron variant G/A snv 3.4E-02 0.700 1.000 1 2016 2016
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: rs1256044
rs1256044
ESR2
1 1.000 0.080 14 64267309 intron variant G/A snv 0.66 0.010 1.000 1 2018 2018
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: rs12775980
rs12775980
SVIL
1 1.000 0.080 10 29570927 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs13182402
rs13182402
ALDH7A1
4 0.925 0.160 5 126582456 intron variant A/G snv 0.15 0.800 1.000 1 2010 2010
dbSNP: rs1473
rs1473
PUM1
2 0.925 0.120 1 30940072 intron variant G/A snv 6.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs1554606
rs1554606
IL6 ; IL6-AS1
2 0.925 0.120 7 22729088 intron variant T/A;G snv 0.010 < 0.001 1 2019 2019
dbSNP: rs17184557
rs17184557
DOK6
1 1.000 0.080 18 69475621 intron variant T/A snv 0.19 0.800 1.000 1 2010 2010
dbSNP: rs17277372
rs17277372
DNM3
2 0.925 0.120 1 172218334 intron variant A/G snv 0.22 0.010 1.000 1 2018 2018
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: rs1784235
rs1784235
LRP5
1 1.000 0.080 11 68418032 intron variant C/T snv 0.69 0.010 1.000 1 2007 2007
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: rs1800247
rs1800247
BGLAP ; PMF1-BGLAP
4 0.882 0.200 1 156242034 intron variant T/C snv 0.20 0.010 1.000 1 2016 2016
dbSNP: rs1800780
rs1800780
NOS3
2 0.925 0.120 7 151001791 intron variant A/G snv 0.58 0.56 0.010 1.000 1 2014 2014