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: rs17749155
rs17749155
MSRA
2 0.925 0.080 8 10210563 intron variant G/A snv 0.16 0.700 1.000 1 2016 2016
dbSNP: rs6214
rs6214
IGF1 ; HELLPAR ; LINC02456
26 0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45 0.010 1.000 1 2010 2010
dbSNP: rs917997
rs917997 		20 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs536289169
rs536289169
GSTM1 ; GSTM2
13 0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04 0.010 1.000 1 2010 2010
dbSNP: rs1247942
rs1247942 		2 0.925 0.080 12 114235918 downstream gene variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs2701108
rs2701108 		2 0.925 0.160 12 114236456 downstream gene variant T/C snv 0.35 0.020 0.500 2 2015 2016
dbSNP: rs2409797
rs2409797
LINC00208
1 1.000 0.080 8 11576271 non coding transcript exon variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs10108511
rs10108511
LINC00208
2 0.925 0.080 8 11578007 non coding transcript exon variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs17451754
rs17451754
CFTR
2 0.925 0.080 7 117616658 intron variant G/A snv 0.10 0.700 1.000 1 2016 2016
dbSNP: rs3776082
rs3776082 		1 1.000 0.080 5 150164482 upstream gene variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs717746
rs717746
CDX1
1 1.000 0.080 5 150176995 intron variant T/A;C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs3776083
rs3776083
SLC6A7
1 1.000 0.080 5 150188407 upstream gene variant G/A;C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2010 2010
dbSNP: rs7632500
rs7632500
LOC107986152
5 0.925 0.080 3 168007561 downstream gene variant A/G snv 0.17 0.700 1.000 1 2013 2013
dbSNP: rs9823696
rs9823696 		2 0.925 0.080 3 184065565 downstream gene variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs10419226
rs10419226
CRTC1
5 0.925 0.080 19 18692362 intron variant T/G snv 0.67 0.800 1.000 1 2013 2013
dbSNP: rs199620551
rs199620551
CRTC1
2 0.925 0.080 19 18693485 intron variant G/- del 9.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs1548445
rs1548445
VPS35L
1 1.000 0.080 16 19680261 intron variant A/G snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs3072
rs3072
GDF7
2 0.925 0.160 2 20678646 3 prime UTR variant T/C snv 0.30 0.020 0.500 2 2015 2016
dbSNP: rs7255
rs7255
GDF7
3 0.925 0.080 2 20679060 3 prime UTR variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs11901649
rs11901649
APOB
3 0.882 0.080 2 21027351 intron variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs3088440
rs3088440
CDKN2A ; CDKN2A-DT
12 0.776 0.240 9 21968160 3 prime UTR variant G/A snv 0.13 0.010 1.000 1 2014 2014
dbSNP: rs2518720
rs2518720
CDKN2A
2 0.925 0.080 9 21978980 intron variant C/T snv 0.43 0.010 1.000 1 2014 2014
dbSNP: rs4800353
rs4800353 		5 0.925 0.080 18 22074176 intergenic variant A/G snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2008 2008