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: rs121909798
rs121909798
VDR
2 0.925 0.200 12 47846444 missense variant G/C snv 0.010 1.000 1 2015 2015
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: 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: rs12808199
rs12808199 		1 1.000 0.080 11 39306409 intergenic variant G/A snv 0.47 0.800 1.000 1 2010 2010
dbSNP: rs1289324472
rs1289324472
GBA
21 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 2008 2008
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: rs145438594
rs145438594
VDR
1 1.000 0.080 12 47879073 missense variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1471400
rs1471400 		1 1.000 0.080 4 87853095 regulatory region variant G/A snv 0.38 0.010 1.000 1 2013 2013
dbSNP: rs1471403
rs1471403 		2 1.000 0.080 4 87854091 intergenic variant T/A;C snv 0.010 1.000 1 2013 2013
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: rs16965654
rs16965654
RPS16P8
1 1.000 0.080 17 27280666 non coding transcript exon variant G/A snv 1.6E-02 0.700 1.000 1 2010 2010
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: rs17651
rs17651
ISG15
1 1.000 0.080 1 1014228 missense variant G/A;C snv 0.010 1.000 1 2012 2012
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: rs1892534
rs1892534
LEPR
7 0.925 0.120 1 65640261 3 prime UTR variant C/T snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs2047937
rs2047937
ZNF423
5 0.925 0.120 16 49830880 intron variant C/T snv 0.50 0.010 1.000 1 2018 2018
dbSNP: rs2062375
rs2062375
COLEC10
2 1.000 0.080 8 118965553 intergenic variant G/C snv 0.65 0.800 1.000 1 2010 2010