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: rs2924835
rs2924835
1 1.000 0.040 15 101066684 missense variant G/A snv 0.31 0.25 0.010 < 0.001 1 2018 2018
dbSNP: rs4919621
rs4919621
4 0.851 0.080 10 102238914 intron variant A/T snv 0.66 0.010 < 0.001 1 2017 2017
dbSNP: rs3758549
rs3758549
3 0.882 0.040 10 102244438 upstream gene variant G/A snv 0.14 0.010 < 0.001 1 2017 2017
dbSNP: rs761288161
rs761288161
1 1.000 0.040 1 107480722 missense variant G/A snv 4.1E-06 0.010 1.000 1 2019 2019
dbSNP: rs1472351089
rs1472351089
1 1.000 0.040 1 107480764 missense variant G/A snv 4.4E-06 0.010 1.000 1 2019 2019
dbSNP: rs369753226
rs369753226
1 1.000 0.040 1 107480824 missense variant G/A snv 6.1E-06 0.010 1.000 1 2019 2019
dbSNP: rs1143633
rs1143633
11 0.752 0.280 2 112832890 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1800435
rs1800435
7 0.827 0.200 9 113391611 missense variant C/G snv 8.3E-02 6.1E-02 0.010 < 0.001 1 2017 2017
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.060 0.500 6 2006 2016
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2004 2004
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs893787
rs893787
1 1.000 0.040 2 12046209 intron variant T/C snv 0.51 0.700 1.000 1 2016 2016
dbSNP: rs177008
rs177008
1 1.000 0.040 X 125567397 intergenic variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs387907571
rs387907571
6 0.827 0.080 3 132477995 missense variant A/G snv 4.2E-06 3.5E-05 0.710 1.000 1 2015 2015
dbSNP: rs11558538
rs11558538
19 0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02 0.020 1.000 2 2008 2010
dbSNP: rs1521179
rs1521179
1 1.000 0.040 1 151800911 3 prime UTR variant G/A snv 0.10 5.3E-02 0.010 < 0.001 1 2012 2012
dbSNP: rs61746299
rs61746299
1 1.000 0.040 1 151801375 missense variant T/A;C snv 9.9E-02; 4.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs3810651
rs3810651
4 0.925 0.080 X 152652814 missense variant A/C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs421016
rs421016
GBA
30 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.010 1.000 1 2013 2013
dbSNP: rs1129647
rs1129647
3 0.882 0.240 5 161854239 synonymous variant T/C snv 0.26 0.24 0.010 1.000 1 2006 2006
dbSNP: rs755588390
rs755588390
7 0.851 0.160 6 162262672 missense variant T/C;G snv 0.010 < 0.001 1 2007 2007
dbSNP: rs12720208
rs12720208
3 0.925 0.040 8 16992890 3 prime UTR variant G/A snv 5.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs1721100
rs1721100
2 0.925 0.040 8 16992989 3 prime UTR variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs17550360
rs17550360
1 1.000 0.040 8 16993092 missense variant C/A;T snv 4.0E-05; 5.8E-03 0.010 1.000 1 2016 2016
dbSNP: rs4690686
rs4690686
1 1.000 0.040 4 176321808 non coding transcript exon variant C/A;T snv 0.700 1.000 1 2016 2016