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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 1.000 5 2003 2014
dbSNP: rs2501431
rs2501431
1 1.000 0.080 1 23875153 synonymous variant G/A snv 0.62 0.64 0.020 1.000 2 2015 2019
dbSNP: rs3003336
rs3003336
1 1.000 0.080 1 23874958 synonymous variant C/T snv 0.62 0.64 0.020 1.000 2 2015 2019
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2012 2015
dbSNP: rs4237
rs4237
1 1.000 0.080 1 23787639 3 prime UTR variant G/A snv 0.64 0.020 0.500 2 2015 2019
dbSNP: rs6426749
rs6426749
3 1.000 0.080 1 22384980 intergenic variant G/C snv 0.19 0.020 1.000 2 2018 2019
dbSNP: rs1137100
rs1137100
39 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 0.010 1.000 1 2013 2013
dbSNP: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2013 2013
dbSNP: rs12742784
rs12742784
2 1.000 0.080 1 22355873 intergenic variant C/A;T snv 0.010 1.000 1 2020 2020
dbSNP: rs1289324472
rs1289324472
GBA
21 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs1473
rs1473
2 0.925 0.120 1 30940072 intron variant G/A snv 6.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs17277372
rs17277372
2 0.925 0.120 1 172218334 intron variant A/G snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs1751492
rs1751492
1 1.000 0.080 1 65526942 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs17651
rs17651
1 1.000 0.080 1 1014228 missense variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs1800247
rs1800247
4 0.882 0.200 1 156242034 intron variant T/C snv 0.20 0.010 1.000 1 2016 2016
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2007 2007
dbSNP: rs1805094
rs1805094
16 0.716 0.440 1 65610269 missense variant G/C;T snv 0.16; 4.0E-06 0.010 < 0.001 1 2013 2013
dbSNP: rs1805096
rs1805096
6 0.827 0.200 1 65636574 synonymous variant G/A snv 0.46 0.43 0.010 1.000 1 2016 2016
dbSNP: rs1892534
rs1892534
7 0.925 0.120 1 65640261 3 prime UTR variant C/T snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs2229579
rs2229579
2 0.925 0.120 1 23874672 missense variant G/A;T snv 0.10; 8.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs2297480
rs2297480
4 0.851 0.280 1 155309691 non coding transcript exon variant T/G snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs2501432
rs2501432
16 0.716 0.480 1 23875430 missense variant T/C;G snv 0.62 0.010 1.000 1 2015 2015
dbSNP: rs2502992
rs2502992
1 1.000 0.080 1 23875429 synonymous variant T/C snv 4.0E-06; 0.62 0.64 0.010 1.000 1 2015 2015
dbSNP: rs2566752
rs2566752
2 1.000 0.080 1 68191014 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs34920465
rs34920465
9 0.807 0.160 1 22373858 intergenic variant A/G snv 0.24 0.010 1.000 1 2019 2019