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: rs9657182
rs9657182
6 0.851 0.280 8 39908329 intron variant C/G;T snv 0.010 < 0.001 1 2012 2012
dbSNP: rs9536314
rs9536314
KL
3 0.925 0.160 13 33054001 missense variant T/A;G snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs948854
rs948854
4 0.882 0.200 11 68682735 upstream gene variant C/T snv 0.65 0.020 1.000 2 2010 2018
dbSNP: rs9470080
rs9470080
13 0.827 0.080 6 35678658 intron variant T/A;C snv 0.020 1.000 2 2011 2019
dbSNP: rs936306
rs936306
3 0.925 0.080 15 51287401 intron variant C/T snv 0.30 0.010 1.000 1 2006 2006
dbSNP: rs9340799
rs9340799
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 1.000 1 2012 2012
dbSNP: rs9296158
rs9296158
16 0.763 0.080 6 35599305 intron variant A/G snv 0.65 0.020 1.000 2 2015 2019
dbSNP: rs8836
rs8836
1 17 76081416 3 prime UTR variant G/A;C;T snv 1.6E-05; 0.54; 4.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs80356773
rs80356773
GBA
3 0.925 0.080 1 155235002 missense variant C/T snv 0.010 1.000 1 2020 2020
dbSNP: rs7973260
rs7973260
7 0.851 0.120 12 117937681 intron variant A/G snv 0.83 0.010 1.000 1 2017 2017
dbSNP: rs77960347
rs77960347
6 18 49583585 missense variant A/C;G snv 4.0E-06; 8.7E-03 0.010 1.000 1 2017 2017
dbSNP: rs776943620
rs776943620
ACE
7 0.851 0.120 17 63477287 missense variant G/A snv 2.1E-05 0.010 1.000 1 2009 2009
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 2020 2020
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.964 28 2007 2020
dbSNP: rs7582472
rs7582472
1 2 133887223 regulatory region variant T/C snv 0.21 0.010 1.000 1 2012 2012
dbSNP: rs757891309
rs757891309
MTR
4 0.882 0.120 1 236850389 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs757522886
rs757522886
MTR
1 1 236885125 missense variant C/T snv 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs755001634
rs755001634
13 0.763 0.280 11 49154384 stop gained G/A snv 1.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs753009654
rs753009654
1 6 6002360 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs749865093
rs749865093
1 11 18029360 missense variant C/T snv 3.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs749437638
rs749437638
14 0.752 0.240 22 19968597 missense variant C/T snv 2.4E-05 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs738499
rs738499
9 0.851 0.120 22 41381096 intron variant G/T snv 0.76 0.010 1.000 1 2012 2012
dbSNP: rs736408
rs736408
2 1.000 0.040 3 52801338 intron variant C/T snv 0.47 0.010 < 0.001 1 2018 2018
dbSNP: rs7208505
rs7208505
2 1.000 0.040 17 59110368 3 prime UTR variant G/A;C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs713224
rs713224
1 4 186491213 intron variant G/A;C snv 0.010 1.000 1 2016 2016