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: rs1307997067
rs1307997067
TAX1BP3 ; P2RX5-TAX1BP3
7 0.851 0.320 17 3664199 missense variant A/C;G snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs137853236
rs137853236
HNF1A
6 0.807 0.280 12 120997504 missense variant C/T snv 1.2E-05 0.700 0
dbSNP: rs1555212014
rs1555212014
HNF1A
6 0.807 0.280 12 120994264 missense variant C/T snv 0.700 0
dbSNP: rs28934906
rs28934906
MECP2
46 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
dbSNP: rs397507478
rs397507478
BRAF
12 0.790 0.440 7 140777014 missense variant C/A snv 0.700 0
dbSNP: rs587776825
rs587776825
HNF1A
5 0.827 0.280 12 120994315 frameshift variant C/-;CC;CCC delins 0.700 0
dbSNP: rs587780357
rs587780357
HNF1A
1 1.000 0.120 12 120993601 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs754729248
rs754729248
HNF1A
6 0.807 0.280 12 120996568 missense variant C/A;G;T snv 2.4E-05; 1.9E-04; 3.6E-05 0.700 0
dbSNP: rs782511378
rs782511378
FOXP3
1 1.000 0.120 X 49257483 missense variant G/A snv 2.2E-05 0.700 0
dbSNP: rs1265564
rs1265564
CUX2
4 1.000 0.120 12 111270654 non coding transcript exon variant A/C snv 0.30 0.810 1.000 1 2012 2012
dbSNP: rs10517086
rs10517086
LINC02357
4 0.882 0.160 4 26083889 intron variant G/A snv 0.27 0.800 1.000 1 2009 2009
dbSNP: rs10786436
rs10786436
HPSE2
1 1.000 0.120 10 98540425 intron variant C/T snv 0.40 0.800 1.000 1 2011 2011
dbSNP: rs11052552
rs11052552
LINC02390
1 1.000 0.120 12 9703362 upstream gene variant T/G snv 0.42 0.800 1.000 1 2007 2007
dbSNP: rs11258747
rs11258747
PRKCQ
1 1.000 0.120 10 6430929 missense variant G/C;T snv 4.0E-06; 0.17 0.800 1.000 1 2009 2009
dbSNP: rs12251307
rs12251307 		1 1.000 0.120 10 6081532 intergenic variant C/T snv 0.18 0.800 1.000 1 2009 2009
dbSNP: rs12444268
rs12444268 		1 1.000 0.120 16 20331250 upstream gene variant T/A snv 0.22 0.800 1.000 1 2009 2009
dbSNP: rs12679857
rs12679857
COLEC10
1 1.000 0.120 8 118965098 intergenic variant A/G snv 0.36 0.800 1.000 1 2011 2011
dbSNP: rs1465788
rs1465788
ZFP36L1
2 0.925 0.160 14 68796882 upstream gene variant T/C snv 0.70 0.800 1.000 1 2009 2009
dbSNP: rs16956936
rs16956936
DNAH2
1 1.000 0.120 17 7730374 intron variant C/A;T snv 0.800 1.000 1 2009 2009
dbSNP: rs2269241
rs2269241
PGM1
2 1.000 0.120 1 63643100 intron variant T/C snv 0.23 0.800 1.000 1 2009 2009
dbSNP: rs2647044
rs2647044 		3 0.882 0.240 6 32700133 intergenic variant G/A snv 0.10 0.800 1.000 1 2007 2007
dbSNP: rs2664170
rs2664170
GAB3
1 1.000 0.120 X 154717327 intron variant G/A snv 0.800 1.000 1 2009 2009
dbSNP: rs3741208
rs3741208
IGF2 ; IGF2-AS ; INS-IGF2
1 1.000 0.120 11 2148544 non coding transcript exon variant A/G;T snv 0.800 1.000 1 2007 2007
dbSNP: rs3757247
rs3757247
BACH2
5 0.827 0.320 6 90247744 intron variant C/T snv 0.38 0.800 1.000 1 2009 2009
dbSNP: rs3764021
rs3764021
CLEC2D
1 1.000 0.120 12 9681032 splice region variant C/T snv 0.46 0.50 0.800 1.000 1 2007 2007