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: 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
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: rs4506565
rs4506565
22 0.790 0.280 10 112996282 intron variant A/G;T snv 0.800 1.000 4 2010 2019
dbSNP: rs7034200
rs7034200
3 1.000 0.080 9 4289050 intron variant C/A;G snv 0.700 1.000 3 2010 2015
dbSNP: rs10830962
rs10830962
7 0.851 0.160 11 92965261 upstream gene variant C/A;G;T snv 0.700 1.000 2 2011 2019
dbSNP: rs13266634
rs13266634
23 0.724 0.480 8 117172544 missense variant C/A;T snv 0.29 0.700 1.000 2 2015 2017
dbSNP: rs1974620
rs1974620
2 1.000 0.080 7 15025842 intergenic variant C/A;T snv 0.700 1.000 2 2015 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: rs4237150
rs4237150
2 9 4290085 intron variant G/A;C;T snv 0.800 1.000 2 2012 2015
dbSNP: rs6113722
rs6113722
2 20 22576461 intron variant G/A;T snv 0.800 1.000 2 2012 2019
dbSNP: rs853789
rs853789
4 2 168944978 intron variant A/G;T snv 0.75 0.800 1.000 2 2012 2018
dbSNP: rs10276674
rs10276674
1 7 14882382 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs10278336
rs10278336
2 7 44205764 intron variant A/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs10747083
rs10747083
2 12 132465032 downstream gene variant G/A;T snv 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: rs11715915
rs11715915
AMT
2 3 49417897 synonymous variant C/A;T snv 0.28 0.700 1.000 1 2012 2012
dbSNP: rs117911989
rs117911989
2 7 131285034 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs12255372
rs12255372
28 0.667 0.480 10 113049143 intron variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs12280680
rs12280680
1 11 46279171 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs13023194
rs13023194
4 0.925 0.120 2 27744393 intergenic variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs17407594
rs17407594
1 1 65704679 intron variant G/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs174576
rs174576
14 0.851 0.200 11 61836038 intron variant C/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs1783598
rs1783598
3 1.000 0.080 11 73140418 intron variant C/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2018860
rs2018860
3 0.925 0.120 15 98715481 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015