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: rs1253660442
rs1253660442
SLC19A1
4 0.851 0.160 21 45531871 missense variant G/A;C snv 0.010 < 0.001 1 2017 2017
dbSNP: rs12602273
rs12602273
TP53
4 0.851 0.080 17 7679695 intron variant C/G snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs12951053
rs12951053
TP53
14 0.732 0.160 17 7674089 intron variant A/C snv 0.10 0.010 1.000 1 2015 2015
dbSNP: rs1295925
rs1295925
VMP1
3 0.882 0.040 17 59832902 intron variant T/C snv 0.60 0.010 1.000 1 2018 2018
dbSNP: rs145204276
rs145204276
GAS5 ; ZBTB37 ; SNORD74 ; SNORD75 ; SNORD76 ; SNORD77 ; SNORA103
31 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs1553260624
rs1553260624
H3-3A
14 0.763 0.080 1 226064454 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs16948627
rs16948627
ITGA3
4 0.882 0.040 17 50063432 intron variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs17111750
rs17111750 		3 0.882 0.040 14 20442249 downstream gene variant C/T snv 0.30 0.010 1.000 1 2017 2017
dbSNP: rs1760944
rs1760944
APEX1 ; OSGEP
26 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1800544
rs1800544
ADRA2A
12 0.790 0.160 10 111076745 upstream gene variant G/C snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs1800871
rs1800871
IL10 ; IL19
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2016 2016
dbSNP: rs1872328
rs1872328
ACYP2
6 0.827 0.120 2 54168122 intron variant G/A snv 7.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
18 0.742 0.320 MT 8993 missense variant T/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs2010963
rs2010963
VEGFA
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2014 2014
dbSNP: rs2086452
rs2086452
ADAMTS17
1 1.000 0.040 15 100188458 intron variant G/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs2236947
rs2236947
RASSF1
3 0.882 0.040 3 50334001 intron variant C/A snv 0.39 0.010 1.000 1 2016 2016
dbSNP: rs2296147
rs2296147
ERCC5 ; BIVM-ERCC5
21 0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38 0.010 1.000 1 2018 2018
dbSNP: rs231755
rs231755 		3 0.882 0.040 2 203888846 regulatory region variant G/C snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs235764
rs235764
BMP2
3 0.882 0.040 20 6773599 intron variant G/A snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs243865
rs243865
MMP2
48 0.600 0.640 16 55477894 intron variant C/T snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs29001322
rs29001322
MMS19
3 0.882 0.040 10 97462918 non coding transcript exon variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs3087243
rs3087243
CTLA4
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.010 1.000 1 2011 2011
dbSNP: rs3178250
rs3178250
BMP2
5 0.827 0.080 20 6779554 3 prime UTR variant T/C snv 0.21 0.010 1.000 1 2015 2015