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: rs1169313
rs1169313
C12orf43
6 12 121004867 intron variant T/A;C snv 0.700 1.000 1 2008 2008
dbSNP: rs4742971
rs4742971 		1 9 105892815 intergenic variant G/C;T snv 0.700 1.000 1 2008 2008
dbSNP: rs5751901
rs5751901
GGT1
1 22 24596299 intron variant T/C snv 0.39 0.700 1.000 1 2008 2008
dbSNP: rs5751902
rs5751902
GGT1
2 1.000 0.080 22 24600663 intron variant C/T snv 0.29 0.700 1.000 1 2010 2010
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 2010 2010
dbSNP: rs4820599
rs4820599
GGT1 ; LRRC75B
6 0.925 0.160 22 24594246 intron variant A/G snv 0.43 0.700 1.000 2 2008 2011
dbSNP: rs10513686
rs10513686
SLC2A2
1 3 171007753 intron variant G/A snv 0.21 0.800 1.000 1 2011 2011
dbSNP: rs1076540
rs1076540
MICAL3
1 22 17957192 intron variant C/T snv 0.21 0.800 1.000 1 2011 2011
dbSNP: rs10908458
rs10908458 		1 1 155154472 intergenic variant T/A;C snv 0.800 1.000 1 2011 2011
dbSNP: rs11066453
rs11066453
OAS1
4 1.000 0.080 12 112927816 intron variant A/G snv 3.8E-03 0.700 1.000 1 2011 2011
dbSNP: rs1126617
rs1126617
GPLD1
1 6 24489424 missense variant C/T snv 0.29 0.31 0.700 1.000 1 2011 2011
dbSNP: rs12145922
rs12145922
PKN2-AS1
2 1 88680551 intron variant C/A snv 0.57 0.800 1.000 1 2011 2011
dbSNP: rs12229654
rs12229654 		20 0.763 0.320 12 110976657 intergenic variant T/G snv 4.8E-03 0.700 1.000 1 2011 2011
dbSNP: rs12539316
rs12539316 		6 0.925 0.120 7 73563568 downstream gene variant A/G snv 0.28 0.700 1.000 1 2011 2011
dbSNP: rs12968116
rs12968116
ATP8B1 ; LOC100505549
2 18 57655270 missense variant C/T snv 8.2E-02 8.0E-02 0.800 1.000 1 2011 2011
dbSNP: rs13030978
rs13030978
MYO1B
1 2 191252512 intron variant C/T snv 0.24 0.800 1.000 1 2011 2011
dbSNP: rs1335645
rs1335645
CEPT1 ; DRAM2
1 1 111141654 intron variant A/G;T snv 0.15 0.800 1.000 1 2011 2011
dbSNP: rs17145750
rs17145750
MLXIPL
9 0.925 0.120 7 73612048 intron variant C/A;T snv 0.800 1.000 1 2011 2011
dbSNP: rs2073398
rs2073398
GGT1
1 22 24603137 intron variant C/G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs2074356
rs2074356
HECTD4
18 0.763 0.280 12 112207597 intron variant G/A snv 3.8E-03 0.700 1.000 1 2011 2011
dbSNP: rs2140773
rs2140773
EFHD1
1 2 232648465 intron variant C/A;G snv 0.61 0.800 1.000 1 2011 2011
dbSNP: rs2330795
rs2330795
GGT1
1 22 24600615 intron variant G/A snv 0.42 0.700 1.000 1 2011 2011
dbSNP: rs2393791
rs2393791
HNF1A
8 0.925 0.160 12 120986153 intron variant C/T snv 0.62 0.700 1.000 1 2011 2011
dbSNP: rs2739330
rs2739330 		1 22 23953099 intron variant T/C snv 0.58 0.800 1.000 1 2011 2011
dbSNP: rs3213545
rs3213545
OASL
3 12 121033534 synonymous variant G/A snv 0.32 0.26 0.700 1.000 1 2011 2011