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: rs117496742
rs117496742
YAP1
1 1.000 0.120 11 102208982 intron variant G/A;T snv 1.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs522616
rs522616
MMP3
10 0.763 0.320 11 102844317 upstream gene variant T/C snv 0.23 0.010 1.000 1 2012 2012
dbSNP: rs11624283
rs11624283 		3 0.882 0.200 14 105124634 downstream gene variant A/G snv 0.13 0.010 1.000 1 2010 2010
dbSNP: rs587777450
rs587777450
PIEZO2
9 0.790 0.320 18 10671729 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs197204
rs197204
MCUB
4 0.851 0.200 4 109576918 intron variant C/G snv 0.52 0.010 1.000 1 2016 2016
dbSNP: rs12229654
rs12229654 		20 0.763 0.320 12 110976657 intergenic variant T/G snv 4.8E-03 0.700 1.000 1 2017 2017
dbSNP: rs11066150
rs11066150
NAA25
2 0.925 0.120 12 112080999 intron variant G/A snv 1.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs12229892
rs12229892
PTPN11
6 0.807 0.240 12 112485589 intron variant G/A snv 1.4E-02 0.700 1.000 1 2017 2017
dbSNP: rs7078160
rs7078160
SHTN1
4 0.851 0.120 10 117068049 intron variant G/A snv 0.19 0.700 1.000 2 2015 2018
dbSNP: rs4752028
rs4752028
SHTN1
6 0.807 0.200 10 117075480 intron variant C/T snv 0.73 0.010 1.000 1 2019 2019
dbSNP: rs10886040
rs10886040
SHTN1
3 0.882 0.120 10 117086783 intron variant C/G snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs6585429
rs6585429
VAX1
2 0.925 0.120 10 117133720 3 prime UTR variant A/G snv 0.68 0.700 1.000 1 2017 2017
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2012 2012
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 0.500 2 2012 2013
dbSNP: rs7554547
rs7554547 		2 0.925 0.120 1 11913831 non coding transcript exon variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs150382487
rs150382487
LINC02476
1 1.000 0.120 7 119500548 intron variant T/A snv 2.4E-03 0.700 1.000 1 2019 2019
dbSNP: rs188681640
rs188681640
LINC02476
1 1.000 0.120 7 119506105 intron variant A/G snv 2.4E-03 0.700 1.000 1 2019 2019
dbSNP: rs182830500
rs182830500
LINC02476
1 1.000 0.120 7 119521299 intron variant T/C snv 2.6E-03 0.700 1.000 1 2019 2019
dbSNP: rs143238378
rs143238378
LINC02476
1 1.000 0.120 7 119626216 intron variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs79184941
rs79184941
FGFR2
41 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.020 1.000 2 2002 2013
dbSNP: rs7692299
rs7692299
LINC01091
2 0.925 0.120 4 123789429 intron variant C/T snv 0.15 0.700 1.000 1 2017 2017
dbSNP: rs908822
rs908822 		2 0.925 0.120 4 123985102 regulatory region variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs72728734
rs72728734
CCDC26
3 0.882 0.120 8 128921474 intron variant A/G snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs7017252
rs7017252
CCDC26
2 0.925 0.120 8 128938598 intron variant C/T snv 0.32 0.700 1.000 1 2017 2017
dbSNP: rs55658222
rs55658222
CCDC26 ; LINC00976
2 0.925 0.120 8 128963890 intron variant G/A snv 0.14 0.700 1.000 1 2017 2017