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 0.700 1.000 1 2013 2013
dbSNP: rs11789015
rs11789015
BARX1
6 0.882 0.080 9 93953746 intron variant A/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs12035735
rs12035735
LRRC8D
4 1 89839786 intron variant G/A snv 1.4E-03 0.700 1.000 1 2018 2018
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: rs2687201
rs2687201 		6 0.925 0.080 3 70879779 intergenic variant A/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs3784262
rs3784262
ALDH1A2
6 0.882 0.160 15 57960908 intron variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs4800353
rs4800353 		5 0.925 0.080 18 22074176 intergenic variant A/G snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs7632500
rs7632500
LOC107986152
5 0.925 0.080 3 168007561 downstream gene variant A/G snv 0.17 0.700 1.000 1 2013 2013
dbSNP: rs121908377
rs121908377
FOXP2
3 1.000 0.120 7 114662075 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs13361189
rs13361189 		13 0.752 0.240 5 150843825 upstream gene variant T/C snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2005 2005
dbSNP: rs2066845
rs2066845
NOD2
46 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.010 1.000 1 2010 2010
dbSNP: rs398122820
rs398122820
B2M
8 0.790 0.240 15 44715641 missense variant G/A snv 0.010 1.000 1 2018 2018