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: rs13107325
rs13107325
SLC39A8
34 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 0.700 1.000 2 2010 2013
dbSNP: rs35747
rs35747
LOC105369944
3 12 102518780 intergenic variant G/A snv 0.70 0.700 1.000 1 2012 2012
dbSNP: rs11191580
rs11191580
NT5C2
13 0.827 0.040 10 103146454 intron variant T/C snv 7.9E-02 0.700 1.000 1 2014 2014
dbSNP: rs2967951
rs2967951
ROPN1L ; LOC105369214
3 5 10463995 intron variant C/T snv 0.19 0.700 1.000 1 2012 2012
dbSNP: rs3934834
rs3934834
LOC105378948 ; LOC112267874
3 1 1070426 downstream gene variant C/T snv 0.21 0.700 1.000 1 2010 2010
dbSNP: rs12229654
rs12229654 		20 0.763 0.320 12 110976657 intergenic variant T/G snv 4.8E-03 0.700 1.000 1 2014 2014
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.700 1.000 1 2014 2014
dbSNP: rs7001819
rs7001819
LOC105379243
4 0.925 0.080 8 11792966 upstream gene variant T/C snv 0.35 0.700 1.000 1 2008 2008
dbSNP: rs308971
rs308971
SYN2
3 3 12075120 intron variant G/A snv 0.82 0.800 1.000 2 2012 2012
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.700 1.000 1 2012 2012
dbSNP: rs7973683
rs7973683
CCDC92
3 12 123964676 intron variant C/A snv 0.39 0.700 1.000 1 2012 2012
dbSNP: rs4836133
rs4836133
LINC02240 ; LOC105379158
5 0.925 0.160 5 124996410 intron variant C/A;G;T snv 0.700 1.000 2 2010 2013
dbSNP: rs146199292
rs146199292
OSBPL11
2 3 125594708 missense variant G/T snv 2.0E-05 5.6E-05 0.700 1.000 1 2013 2013
dbSNP: rs867559
rs867559 		3 9 126703046 non coding transcript exon variant A/G snv 0.26 0.700 1.000 1 2010 2010
dbSNP: rs2745353
rs2745353
RSPO3
5 6 127131790 intron variant C/T snv 0.55 0.700 1.000 1 2012 2012
dbSNP: rs2275215
rs2275215
LOC102723409
3 6 129540247 intron variant T/C snv 0.35 0.700 1.000 1 2010 2010
dbSNP: rs1542829
rs1542829
COL6A5
3 3 130418627 intron variant G/A snv 8.0E-02 0.700 1.000 1 2013 2013
dbSNP: rs1106683
rs1106683 		3 7 131768766 intergenic variant G/A snv 0.14 0.700 1.000 1 2007 2007
dbSNP: rs146922831
rs146922831
LRGUK
2 7 134201557 missense variant G/T snv 3.2E-05 2.0E-04 0.700 1.000 1 2013 2013
dbSNP: rs2890652
rs2890652 		3 2 142202362 intergenic variant T/C snv 0.21 0.700 1.000 2 2010 2013
dbSNP: rs200861231
rs200861231
FREM1
2 9 14859403 missense variant C/A;T snv 5.2E-05 2.8E-05 0.700 1.000 1 2013 2013
dbSNP: rs7708584
rs7708584
MFAP3
3 5 154163906 intron variant A/G snv 0.58 0.700 1.000 1 2013 2013
dbSNP: rs4691380
rs4691380
PDGFC
4 4 156798972 intron variant C/T snv 0.45 0.700 1.000 1 2012 2012
dbSNP: rs7607980
rs7607980
COBLL1
8 1.000 0.080 2 164694691 missense variant T/C snv 0.11 0.13 0.700 1.000 1 2012 2012
dbSNP: rs34572584
rs34572584 		2 4 170869381 intergenic variant G/T snv 3.3E-02 0.700 1.000 1 2010 2010