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: rs12086634
rs12086634
6 0.827 0.280 1 209706914 intron variant T/G snv 0.21 0.20 0.040 1.000 4 2011 2017
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.040 1.000 4 2008 2016
dbSNP: rs17173608
rs17173608
8 0.807 0.240 7 150339575 intron variant T/G snv 0.11 0.020 1.000 2 2012 2016
dbSNP: rs1412193981
rs1412193981
1 1.000 0.040 10 60877982 missense variant T/G snv 0.010 1.000 1 2015 2015
dbSNP: rs1535255
rs1535255
8 0.807 0.120 6 88151489 intron variant T/G snv 0.21 0.010 1.000 1 2013 2013
dbSNP: rs17863787
rs17863787
9 0.925 0.040 2 233702448 intron variant T/G snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs1801131
rs1801131
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2014 2014
dbSNP: rs2280148
rs2280148
2 0.925 0.080 17 78358299 3 prime UTR variant T/G snv 2.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs2282679
rs2282679
GC
38 0.645 0.480 4 71742666 intron variant T/G snv 0.21 0.010 1.000 1 2018 2018
dbSNP: rs405509
rs405509
30 0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58 0.010 1.000 1 2009 2009
dbSNP: rs6454674
rs6454674
5 0.851 0.120 6 88163211 intron variant T/G snv 0.32 0.010 1.000 1 2013 2013
dbSNP: rs6887452
rs6887452
2 1.000 0.040 5 149404204 upstream gene variant T/G snv 0.32 0.700 1.000 1 2019 2019
dbSNP: rs925946
rs925946
9 0.882 0.120 11 27645655 intron variant T/G snv 0.72 0.010 1.000 1 2013 2013
dbSNP: rs9939224
rs9939224
6 1.000 0.040 16 56968820 intron variant T/G snv 0.75 0.800 1.000 1 2011 2011
dbSNP: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.080 0.875 8 2011 2019
dbSNP: rs1260326
rs1260326
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.040 1.000 4 2008 2015
dbSNP: rs10085637
rs10085637
1 1.000 0.040 7 95596501 5 prime UTR variant T/C;G snv 0.40 0.010 1.000 1 2012 2012
dbSNP: rs3757840
rs3757840
GCK
2 1.000 0.040 7 44191617 intron variant T/C;G snv 0.800 1.000 1 2012 2012
dbSNP: rs7013777
rs7013777
4 1.000 0.040 8 20020845 intergenic variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs76763715
rs76763715
GBA
35 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.010 1.000 1 2018 2018
dbSNP: rs773837458
rs773837458
1 1.000 0.040 4 9834927 missense variant T/C;G snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs879254728
rs879254728
3 0.882 0.080 19 11107511 missense variant T/C;G snv 0.010 1.000 1 2008 2008
dbSNP: rs780094
rs780094
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.830 1.000 6 2010 2018
dbSNP: rs17782313
rs17782313
34 0.683 0.480 18 60183864 intergenic variant T/C snv 0.24 0.050 0.800 5 2013 2019
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.030 0.333 3 2001 2011