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: rs2722425
rs2722425
ZMAT4
1 8 40626720 intron variant T/C snv 0.78 0.800 1.000 1 2007 2007
dbSNP: rs563694
rs563694
ABCB11
2 2 168917561 intron variant C/A snv 0.75 0.800 1.000 1 2008 2008
dbSNP: rs10246797
rs10246797
SUGCT
1 7 40304762 intron variant C/A;G snv 0.45 0.700 1.000 1 2009 2009
dbSNP: rs1120557
rs1120557 		1 14 62662722 regulatory region variant A/G snv 0.88 0.700 1.000 1 2009 2009
dbSNP: rs11571943
rs11571943
CDC5L
1 6 44403953 synonymous variant T/C snv 2.1E-02 2.9E-02 0.700 1.000 1 2009 2009
dbSNP: rs12285364
rs12285364
SORL1
2 1.000 0.080 11 121522517 intron variant C/T snv 6.7E-02 0.700 1.000 1 2009 2009
dbSNP: rs12385797
rs12385797 		1 11 106465562 upstream gene variant C/A snv 6.4E-02 0.700 1.000 1 2009 2009
dbSNP: rs13427272
rs13427272
CTNNA2
1 2 80058810 intron variant G/A snv 5.4E-02 0.700 1.000 1 2009 2009
dbSNP: rs16993414
rs16993414 		1 20 7327891 intergenic variant T/C snv 2.4E-02 0.700 1.000 1 2009 2009
dbSNP: rs17066694
rs17066694 		1 5 166334297 intergenic variant A/G snv 4.8E-02 0.700 1.000 1 2009 2009
dbSNP: rs234148
rs234148
LOC105370650
1 14 97688682 upstream gene variant T/C;G snv 0.700 1.000 1 2009 2009
dbSNP: rs339416
rs339416
DNAH5
1 5 13986417 regulatory region variant G/A snv 3.5E-02 0.700 1.000 1 2009 2009
dbSNP: rs3729709
rs3729709
TNNI3
1 19 55156438 non coding transcript exon variant T/C snv 7.4E-02 0.700 1.000 1 2009 2009
dbSNP: rs4682484
rs4682484
CFAP44
1 3 113304023 missense variant T/A;C snv 0.98 0.700 1.000 1 2009 2009
dbSNP: rs6555474
rs6555474
ADCY2
1 5 7529700 intron variant G/A snv 0.44 0.700 1.000 1 2009 2009
dbSNP: rs853778
rs853778
ABCB11
1 2 168954714 intron variant T/C snv 0.53 0.700 1.000 1 2009 2009
dbSNP: rs853787
rs853787
ABCB11
2 2 168945742 intron variant G/A;T snv 0.700 1.000 1 2009 2009
dbSNP: rs9981885
rs9981885 		1 21 18958319 intron variant A/C snv 0.22 0.700 1.000 1 2009 2009
dbSNP: rs11071657
rs11071657 		3 1.000 0.040 15 62141763 regulatory region variant A/G snv 0.31 0.700 1.000 1 2010 2010
dbSNP: rs11603334
rs11603334
ARAP1
5 1.000 0.080 11 72721940 5 prime UTR variant G/A snv 0.12 0.800 1.000 2 2012 2012
dbSNP: rs11717195
rs11717195
ADCY5
3 1.000 0.080 3 123363551 intron variant T/C snv 0.19 0.700 1.000 2 2012 2012
dbSNP: rs1371614
rs1371614
DPYSL5
3 2 26930006 intron variant C/T snv 0.29 0.800 1.000 2 2012 2012
dbSNP: rs17168486
rs17168486
DGKB
5 1.000 0.080 7 14858657 intron variant C/T snv 0.18 0.700 1.000 2 2012 2012
dbSNP: rs2877716
rs2877716
ADCY5
4 3 123375604 intron variant T/C snv 0.76 0.800 1.000 2 2012 2012
dbSNP: rs10228456
rs10228456 		3 1.000 0.080 7 15024301 intergenic variant C/T snv 0.54 0.700 1.000 1 2012 2012