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: rs2326398
rs2326398
CRISPLD2
5 0.827 0.200 16 84869111 intron variant A/G snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs2486668
rs2486668
GRHL3
6 0.807 0.320 1 24331573 missense variant C/G snv 0.16 0.17 0.010 < 0.001 1 2016 2016
dbSNP: rs28937575
rs28937575
FOXE1 ; PTCSC2
4 0.851 0.280 9 97854084 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2018 2018
dbSNP: rs3771523
rs3771523
TGFA
5 0.851 0.200 2 70450336 3 prime UTR variant C/T snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs3905385
rs3905385
ROR2
3 0.882 0.200 9 91906451 intron variant T/C snv 0.23 0.010 1.000 1 2012 2012
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2012 2012
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: rs493760
rs493760
DROSHA
5 0.851 0.200 5 31436933 intron variant C/T snv 0.74 0.010 1.000 1 2018 2018
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: rs545809
rs545809
GRHL3 ; STPG1
3 0.882 0.200 1 24364274 missense variant T/A snv 0.29 0.26 0.010 < 0.001 1 2016 2016
dbSNP: rs560426
rs560426
ABCA4
5 0.851 0.200 1 94087882 intron variant C/T snv 0.53 0.010 < 0.001 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: rs6757845
rs6757845
ZNF385B
4 0.851 0.200 2 179449268 intron variant T/C snv 0.66 0.010 1.000 1 2011 2011
dbSNP: rs7205289
rs7205289
WWP2 ; MIR140
3 0.882 0.200 16 69933102 non coding transcript exon variant C/A snv 0.010 1.000 1 2011 2011
dbSNP: rs739439
rs739439
SARM1 ; SLC46A1
5 0.851 0.200 17 28396803 3 prime UTR variant C/T snv 0.13 0.010 1.000 1 2016 2016
dbSNP: rs7650466
rs7650466
EPHA3
7 0.851 0.200 3 89481208 3 prime UTR variant C/T snv 0.23 0.010 1.000 1 2018 2018
dbSNP: rs8179096
rs8179096
TIMP2
4 0.851 0.200 17 78925567 upstream gene variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs104894110
rs104894110
FOXE1 ; PTCSC2
8 0.776 0.280 9 97854108 missense variant C/T snv 0.020 1.000 2 1998 2002
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: rs1546124
rs1546124
CRISPLD2
7 0.807 0.200 16 84838445 5 prime UTR variant G/A;C snv 8.6E-06; 0.67 0.020 1.000 2 2011 2011
dbSNP: rs4783099
rs4783099
CRISPLD2
6 0.827 0.200 16 84907723 3 prime UTR variant C/T snv 0.37 0.020 1.000 2 2011 2017
dbSNP: rs642961
rs642961 		14 0.732 0.440 1 209815925 intergenic variant A/G snv 0.84 0.020 1.000 2 2010 2014
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: rs227731
rs227731 		4 0.882 0.120 17 56695877 intergenic variant T/A;G snv 0.700 1.000 3 2017 2018