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: rs2190503
rs2190503
GRB10
2 0.925 0.120 7 50674920 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs2256787
rs2256787
ARHGEF10L
2 0.925 0.120 1 17566321 intron variant A/C snv 0.93 0.010 1.000 1 2018 2018
dbSNP: rs237028
rs237028
TAB2
2 0.925 0.120 6 149397514 intron variant C/T snv 0.58 0.010 1.000 1 2019 2019
dbSNP: rs2803073
rs2803073
PRKN
2 0.925 0.120 6 162541796 intron variant G/A snv 0.74 0.010 1.000 1 2016 2016
dbSNP: rs3087714
rs3087714
SULF1
2 0.925 0.120 8 69660769 3 prime UTR variant G/A snv 0.30 0.010 1.000 1 2011 2011
dbSNP: rs372150314
rs372150314
SHMT1
2 0.925 0.120 17 18347596 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs3745546
rs3745546
INSR
2 0.925 0.120 19 7211805 intron variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs3769827
rs3769827
CASP8
2 0.925 0.120 2 201237962 intron variant A/G snv 0.42 0.010 1.000 1 2011 2011
dbSNP: rs41324349
rs41324349
CARD11
2 0.925 0.120 7 2907529 intron variant G/A;C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs4286604
rs4286604 		2 0.925 0.120 4 69576447 intron variant A/G snv 0.76 0.010 1.000 1 2019 2019
dbSNP: rs4525119
rs4525119
AKR1C3 ; LOC107984198
2 0.925 0.120 10 5049762 intron variant C/T snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs561841834
rs561841834
COL18A1
2 0.925 0.120 21 45468531 synonymous variant C/T snv 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs56318008
rs56318008
WNT4 ; LOC105376845
3 0.925 0.120 1 22143914 5 prime UTR variant C/T snv 0.13 0.010 1.000 1 2018 2018
dbSNP: rs7053448
rs7053448
F8
2 0.925 0.120 X 154964936 intron variant T/C snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs7058826
rs7058826
F8
2 0.925 0.120 X 154966714 intron variant C/T snv 0.12 0.14 0.010 1.000 1 2015 2015
dbSNP: rs7305032
rs7305032
VDR
2 0.925 0.120 12 47856077 intron variant G/A snv 0.61 0.010 1.000 1 2013 2013
dbSNP: rs7501462
rs7501462 		2 0.925 0.120 17 16974091 upstream gene variant A/G snv 0.31 0.010 1.000 1 2014 2014
dbSNP: rs753461846
rs753461846
MAD1L1
2 0.925 0.120 7 1898249 missense variant C/A;G;T snv 4.0E-06; 2.8E-05 0.010 1.000 1 2013 2013
dbSNP: rs7572644
rs7572644
BABAM2
2 0.925 0.120 2 28097166 intron variant T/C snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs76032516
rs76032516
MAML2
2 0.925 0.120 11 96097550 intron variant A/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs7643459
rs7643459
LMCD1-AS1 ; LOC101927394
2 0.925 0.120 3 7963141 intron variant G/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs927062
rs927062
AKAP6
2 0.925 0.120 14 32625843 intron variant A/G snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs9609538
rs9609538
RTCB ; BPIFC
2 0.925 0.120 22 32413845 upstream gene variant T/C snv 0.34 0.010 1.000 1 2014 2014
dbSNP: rs4320932
rs4320932
IGF2 ; INS-IGF2
3 0.882 0.120 11 2150371 intron variant T/C snv 0.19 0.020 1.000 2 2011 2013
dbSNP: rs495139
rs495139
ENOSF1
4 0.882 0.120 18 676008 intron variant G/C snv 0.63 0.020 1.000 2 2010 2018