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: rs9939609
rs9939609
FTO
98 0.559 0.720 16 53786615 intron variant T/A snv 0.41 0.010 1.000 1 2011 2011
dbSNP: rs956572
rs956572
11 0.742 0.280 18 63153338 intron variant A/G snv 0.65 0.010 1.000 1 2013 2013
dbSNP: rs950530102
rs950530102
DST
3 0.882 0.160 6 56704357 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs9397456
rs9397456
3 0.882 0.160 6 151926017 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs9357347
rs9357347
4 0.851 0.080 6 41182853 intergenic variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs9331896
rs9331896
4 0.851 0.080 8 27610169 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs910080
rs910080
4 0.851 0.120 20 1979580 3 prime UTR variant A/G snv 0.35 0.010 1.000 1 2009 2009
dbSNP: rs901115236
rs901115236
3 0.882 0.120 22 23767531 missense variant G/A;T snv 1.5E-05; 1.5E-05 0.010 1.000 1 2017 2017
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2018 2018
dbSNP: rs8126696
rs8126696
3 0.882 0.080 21 37358422 intron variant T/C snv 0.64 0.010 1.000 1 2012 2012
dbSNP: rs80356715
rs80356715
6 0.807 0.120 1 11016874 missense variant C/G;T snv 8.0E-06; 2.2E-04 0.010 1.000 1 2008 2008
dbSNP: rs8027814
rs8027814
2 0.925 0.080 15 32058469 intron variant G/A snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs797044603
rs797044603
5 0.827 0.320 6 41161541 missense variant T/C snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs773819452
rs773819452
ECD
4 0.851 0.200 10 73160449 missense variant G/A snv 4.2E-06 0.010 1.000 1 2017 2017
dbSNP: rs770237371
rs770237371
5 0.827 0.160 17 81996616 missense variant A/C;G snv 4.0E-06; 1.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs76763715
rs76763715
GBA
35 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.020 1.000 2 2014 2017
dbSNP: rs767543900
rs767543900
10 0.790 0.120 17 45971879 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs767425642
rs767425642
ACE
3 0.882 0.120 17 63489010 missense variant G/A;T snv 3.2E-05; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs766647311
rs766647311
3 0.882 0.080 6 41159841 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2020 2020
dbSNP: rs765670175
rs765670175
7 0.790 0.120 14 73173646 missense variant T/A snv 8.0E-06 0.020 1.000 2 2006 2008
dbSNP: rs763872192
rs763872192
4 0.882 0.080 7 80672000 missense variant C/T snv 2.8E-05 0.010 1.000 1 2017 2017
dbSNP: rs763841075
rs763841075
GRN
4 0.851 0.120 17 44350293 missense variant T/C snv 1.8E-04 1.1E-04 0.010 1.000 1 2018 2018
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.060 1.000 6 2011 2019
dbSNP: rs75932628
rs75932628
28 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.020 0.500 2 2014 2015
dbSNP: rs7493
rs7493
24 0.677 0.440 7 95405463 missense variant G/C snv 0.27 0.27 0.010 1.000 1 2002 2002