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: rs3783347
rs3783347
WARS1
2 14 100372924 intron variant G/T snv 0.16 0.700 1.000 1 2012 2012
dbSNP: rs12385797
rs12385797 		1 11 106465562 upstream gene variant C/A snv 6.4E-02 0.700 1.000 1 2009 2009
dbSNP: rs16913693
rs16913693
ELP1
2 9 108918079 intron variant T/G snv 8.4E-02 0.700 1.000 1 2012 2012
dbSNP: rs118137427
rs118137427 		2 10 111217250 intergenic variant A/G snv 3.3E-02 0.700 1.000 1 2012 2012
dbSNP: rs11195502
rs11195502 		2 10 111279909 intergenic variant C/A;G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs10885122
rs10885122 		4 1.000 0.080 10 111282335 intergenic variant T/G snv 0.71 0.800 1.000 4 2010 2019
dbSNP: rs17747324
rs17747324
TCF7L2
4 0.925 0.160 10 112992744 intron variant T/C snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs4506565
rs4506565
TCF7L2
22 0.790 0.280 10 112996282 intron variant A/G;T snv 0.800 1.000 4 2010 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: rs12243326
rs12243326
TCF7L2
5 0.925 0.160 10 113029056 intron variant T/C snv 0.27 0.700 1.000 1 2012 2012
dbSNP: rs12255372
rs12255372
TCF7L2
28 0.667 0.480 10 113049143 intron variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs4682484
rs4682484
CFAP44
1 3 113304023 missense variant T/A;C snv 0.98 0.700 1.000 1 2009 2009
dbSNP: rs13266634
rs13266634
SLC30A8 ; LOC105375716
23 0.724 0.480 8 117172544 missense variant C/A;T snv 0.29 0.700 1.000 2 2015 2017
dbSNP: rs3802177
rs3802177
SLC30A8 ; LOC105375716
5 1.000 0.080 8 117172786 3 prime UTR variant G/A snv 0.24 0.800 1.000 2 2012 2015
dbSNP: rs11558471
rs11558471
SLC30A8 ; LOC105375716
5 1.000 0.080 8 117173494 3 prime UTR variant A/G snv 0.25 0.800 1.000 6 2010 2019
dbSNP: rs35859536
rs35859536
LOC105375716
2 8 117179236 downstream gene variant C/T snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs17667932
rs17667932
MED30
2 1.000 0.120 8 117537137 intron variant T/C snv 7.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs10849893
rs10849893
KDM2B
1 12 121500382 intron variant C/G snv 0.30 0.700 1.000 1 2012 2012
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: rs11257655
rs11257655 		4 1.000 0.080 10 12265895 TF binding site variant C/T snv 0.23 0.700 1.000 1 2012 2012
dbSNP: rs4836906
rs4836906 		1 9 122665528 downstream gene variant T/C snv 1.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs11708067
rs11708067
ADCY5
9 0.882 0.080 3 123346931 intron variant A/G snv 0.19 0.800 1.000 5 2010 2019
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: rs2877716
rs2877716
ADCY5
4 3 123375604 intron variant T/C snv 0.76 0.800 1.000 2 2012 2012
dbSNP: rs117911989
rs117911989
MKLN1
2 7 131285034 intron variant G/A;C snv 0.700 1.000 1 2019 2019