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: rs560887
rs560887
SPC25 ; G6PC2
18 0.827 0.120 2 168906638 intron variant T/C snv 0.79 0.80 0.800 1.000 9 2008 2019
dbSNP: rs563694
rs563694
ABCB11
2 2 168917561 intron variant C/A snv 0.75 0.800 1.000 1 2008 2008
dbSNP: rs10830963
rs10830963
MTNR1B
27 0.776 0.400 11 92975544 intron variant C/G snv 0.22 0.800 1.000 11 2009 2019
dbSNP: rs4607517
rs4607517
GCK
8 0.882 0.080 7 44196069 intron variant G/A;C snv 0.800 1.000 7 2009 2019
dbSNP: rs7903146
rs7903146
TCF7L2
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.800 1.000 5 2009 2019
dbSNP: rs1387153
rs1387153 		10 0.807 0.200 11 92940662 downstream gene variant C/G;T snv 0.800 1.000 4 2009 2019
dbSNP: rs2166706
rs2166706 		2 1.000 0.080 11 92958366 intergenic variant T/A;C snv 0.800 1.000 2 2009 2019
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: rs780094
rs780094
GCKR
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.800 1.000 7 2010 2019