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: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.030 1.000 3 2004 2012
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.020 1.000 2 2004 2015
dbSNP: rs3738136
rs3738136
3 0.882 0.040 1 20645618 missense variant G/A snv 9.2E-02 5.0E-02 0.020 1.000 2 2004 2006
dbSNP: rs75822236
rs75822236
GBA
10 0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05 0.020 1.000 2 2004 2018
dbSNP: rs1043424
rs1043424
1 1.000 0.040 1 20650507 missense variant A/C snv 0.29 0.28 0.010 1.000 1 2004 2004
dbSNP: rs1164376164
rs1164376164
6 0.851 0.200 7 87601024 5 prime UTR variant A/G snv 0.010 1.000 1 2004 2004
dbSNP: rs1210737543
rs1210737543
1 1.000 0.040 10 87952124 missense variant A/G snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs138050841
rs138050841
2 0.925 0.040 1 20637894 missense variant G/A snv 2.0E-05 3.5E-05 0.010 1.000 1 2004 2004
dbSNP: rs1989754
rs1989754
1 1.000 0.040 8 17000966 intron variant G/C snv 0.36 0.010 1.000 1 2004 2004
dbSNP: rs35986369
rs35986369
2 1.000 0.040 3 19950975 frameshift variant -/GG delins 0.010 1.000 1 2004 2004
dbSNP: rs551990652
rs551990652
1 1.000 0.040 2 130120359 missense variant C/T snv 3.2E-05 7.1E-06 0.010 1.000 1 2004 2004
dbSNP: rs56902012
rs56902012
1 1.000 0.040 8 24914799 missense variant G/A;C snv 3.4E-04; 1.8E-05 0.010 < 0.001 1 2004 2004
dbSNP: rs750196294
rs750196294
2 1.000 0.040 5 1416151 synonymous variant G/A snv 2.4E-05 0.010 1.000 1 2004 2004
dbSNP: rs766662990
rs766662990
4 0.851 0.120 17 35878529 missense variant C/T snv 1.6E-05 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.900 0.996 260 2005 2020
dbSNP: rs33939927
rs33939927
24 0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 0.100 1.000 46 2005 2019
dbSNP: rs104893875
rs104893875
13 0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06 0.100 1.000 28 2005 2019
dbSNP: rs34995376
rs34995376
7 0.807 0.080 12 40310435 missense variant G/A snv 7.0E-06 0.070 1.000 7 2005 2017
dbSNP: rs74315355
rs74315355
7 0.790 0.080 1 20644639 missense variant G/A snv 0.070 0.857 7 2005 2015
dbSNP: rs6438552
rs6438552
9 0.790 0.280 3 119912967 intron variant A/G snv 0.54 0.050 0.800 5 2005 2013
dbSNP: rs34424986
rs34424986
10 0.752 0.200 6 161785820 missense variant G/A;T snv 1.9E-03; 8.0E-06 0.020 1.000 2 2005 2018
dbSNP: rs72470544
rs72470544
2 0.925 0.080 2 74530427 missense variant G/T snv 1.9E-02 1.7E-02 0.020 1.000 2 2005 2011
dbSNP: rs774005786
rs774005786
8 0.790 0.080 1 7970951 missense variant G/A;T snv 3.9E-04; 2.0E-05 0.020 1.000 2 2005 2013
dbSNP: rs1051931
rs1051931
19 0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79 0.010 1.000 1 2005 2005
dbSNP: rs1453063924
rs1453063924
1 1.000 0.040 2 156329978 missense variant C/T snv 4.0E-06 0.010 1.000 1 2005 2005