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: rs1334496
rs1334496
1 1.000 0.040 X 137178554 intergenic variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs4829605
rs4829605
1 1.000 0.040 X 137182822 intergenic variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs11767557
rs11767557
4 0.882 0.080 7 143412046 intron variant T/C snv 0.18 0.010 1.000 1 2015 2015
dbSNP: rs111943087
rs111943087
2 0.925 0.080 5 150059725 missense variant G/A snv 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs3756577
rs3756577
2 0.925 0.080 5 150249081 intron variant C/T snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs3822606
rs3822606
2 0.925 0.080 5 150261592 intron variant G/A snv 0.27 0.010 1.000 1 2016 2016
dbSNP: rs375752214
rs375752214
22 0.708 0.400 7 150998541 missense variant C/T snv 4.1E-06 4.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs9340803
rs9340803
2 0.925 0.080 6 151842832 intron variant A/G snv 1.0E-03 3.8E-04 0.010 1.000 1 2018 2018
dbSNP: rs2230288
rs2230288
GBA
18 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2015 2015
dbSNP: rs640476
rs640476
1 1.000 0.040 5 161277998 intergenic variant T/G snv 0.42 0.010 1.000 1 2018 2018
dbSNP: rs6850306
rs6850306
2 0.925 0.080 4 18004466 intron variant G/A snv 0.12 0.010 1.000 1 2018 2018
dbSNP: rs12053868
rs12053868
2 0.925 0.080 3 190582215 intron variant A/G snv 8.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.030 1.000 3 2009 2016
dbSNP: rs63750048
rs63750048
2 0.925 0.080 1 226883817 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs391300
rs391300
SRR
4 0.882 0.160 17 2312964 intron variant T/C snv 0.58 0.010 1.000 1 2018 2018
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2015 2015
dbSNP: rs11887120
rs11887120
4 0.882 0.080 2 25262866 intron variant C/T snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs11136000
rs11136000
CLU
19 0.752 0.160 8 27607002 intron variant T/C snv 0.56 0.040 1.000 4 2013 2019
dbSNP: rs9331888
rs9331888
5 0.827 0.200 8 27611345 5 prime UTR variant C/G snv 0.35 0.28 0.010 1.000 1 2017 2017
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.070 0.714 7 2008 2020
dbSNP: rs1451603364
rs1451603364
2 0.925 0.120 11 27658411 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.060 0.667 6 2008 2020
dbSNP: rs2534672
rs2534672
1 1.000 0.040 6 31497781 intron variant G/C snv 0.32 0.010 1.000 1 2017 2017
dbSNP: rs2070600
rs2070600
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.020 1.000 2 2016 2019