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: 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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2012 2012
dbSNP: rs1035142
rs1035142
FLACC1
7 0.807 0.200 2 201288355 3 prime UTR variant T/C;G snv 0.54 0.010 1.000 1 2011 2011
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 1.000 2 2005 2007
dbSNP: rs1263178238
rs1263178238
VSIG10L
2 0.925 0.080 19 51338047 missense variant T/C snv 2.6E-05 4.9E-05 0.010 1.000 1 2016 2016
dbSNP: rs2114039
rs2114039 		2 1.000 0.080 4 54226459 intron variant T/C snv 0.40 0.010 1.000 1 2012 2012
dbSNP: rs2178146
rs2178146 		8 0.827 0.080 16 86430089 downstream gene variant T/C snv 0.31 0.700 1.000 1 2013 2013
dbSNP: rs2296188
rs2296188
FLT1
2 0.925 0.200 13 28319347 intron variant T/C snv 0.70 0.010 1.000 1 2012 2012
dbSNP: rs2445762
rs2445762
CYP19A1
4 1.000 0.080 15 51325511 intron variant T/C snv 0.31 0.010 1.000 1 2011 2011
dbSNP: rs2687202
rs2687202 		2 0.925 0.080 3 70880832 regulatory region variant T/C snv 0.64 0.700 1.000 1 2016 2016
dbSNP: rs7141987
rs7141987
MEG8 ; MIR323A ; MIR329-1 ; MIR329-2 ; MIR758 ; MIR1197
2 0.925 0.080 14 101025887 intron variant T/C snv 0.58 0.700 1.000 1 2018 2018
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.030 1.000 3 2005 2008
dbSNP: rs17625898
rs17625898
FLT1
1 1.000 0.080 13 28358693 intron variant T/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs3784262
rs3784262
ALDH1A2
6 0.882 0.160 15 57960908 intron variant T/A;C snv 0.710 1.000 2 2013 2015
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: 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: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.030 0.667 3 2010 2013
dbSNP: rs696217
rs696217
GHRL ; GHRLOS
32 0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 0.667 3 2010 2013
dbSNP: rs1979654
rs1979654 		2 0.925 0.080 16 86363229 TF binding site variant G/C snv 0.55 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: rs1247942
rs1247942 		2 0.925 0.080 12 114235918 downstream gene variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs3127075
rs3127075
CASP7
1 1.000 0.080 10 113712354 intron variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs13429103
rs13429103
LOC107985847
1 1.000 0.080 2 7377100 intergenic variant G/A snv 0.16 0.710 1.000 1 2018 2018
dbSNP: rs17451754
rs17451754
CFTR
2 0.925 0.080 7 117616658 intron variant G/A snv 0.10 0.710 1.000 1 2016 2016