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: rs227731
rs227731 		4 0.882 0.120 17 56695877 intergenic variant T/A;G snv 0.700 1.000 3 2017 2018
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: 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: 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: rs10242177
rs10242177 		1 1.000 0.120 7 156369656 intergenic variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs104893810
rs104893810
TGFBR2
7 0.790 0.360 3 30691477 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs10512248
rs10512248
PTCH1
4 0.925 0.120 9 95497421 intron variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs10719
rs10719
DROSHA
24 0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 0.010 1.000 1 2018 2018
dbSNP: rs11072494
rs11072494
ARID3B
2 0.925 0.120 15 74596822 3 prime UTR variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs11466285
rs11466285
TGFA
5 0.851 0.200 2 70450307 3 prime UTR variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs11582254
rs11582254
TMCO4
2 0.925 0.120 1 19691584 intron variant T/A;C snv 0.700 1.000 1 2017 2017
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: rs1474322770
rs1474322770
NKX2-1 ; SFTA3 ; NKX2-1-AS1
5 0.827 0.240 14 36519251 missense variant G/A snv 0.010 1.000 1 1998 1998
dbSNP: rs1528845
rs1528845 		1 1.000 0.120 2 147749295 intergenic variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs1878918
rs1878918
NRG1
2 0.925 0.120 8 32476054 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs189675673
rs189675673
SULT2A1
1 1.000 0.120 19 47880143 intron variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2013162
rs2013162
IRF6
5 0.827 0.280 1 209795339 synonymous variant C/A;T snv 0.41; 1.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs2076056
rs2076056
JARID2
3 0.882 0.200 6 15487551 intron variant C/A;G;T snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs2235375
rs2235375
IRF6
7 0.807 0.400 1 209792242 intron variant G/A;C;T snv 3.2E-05; 0.41; 4.3E-04 0.010 1.000 1 2018 2018
dbSNP: rs2283487
rs2283487 		2 0.925 0.120 16 3919885 intergenic variant A/C;G snv 0.700 1.000 1 2017 2017
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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2012 2012
dbSNP: rs4791774
rs4791774
NTN1
4 0.882 0.240 17 9028802 intron variant A/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs587777450
rs587777450
PIEZO2
9 0.790 0.320 18 10671729 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs6126344
rs6126344
SALL4
2 0.925 0.120 20 51790963 missense variant A/C;T snv 0.35; 8.0E-06 0.700 1.000 1 2017 2017