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: rs2189814
rs2189814
3 0.925 0.040 7 86702440 intron variant T/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs2236225
rs2236225
52 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.010 1.000 1 2014 2014
dbSNP: rs2344484
rs2344484
3 0.925 0.040 5 135540941 upstream gene variant A/G snv 0.47 0.010 1.000 1 2008 2008
dbSNP: rs28936379
rs28936379
10 0.807 0.120 1 226888977 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs33939927
rs33939927
24 0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs387906709
rs387906709
9 0.776 0.120 X 56565363 missense variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs429358
rs429358
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.010 1.000 1 2019 2019
dbSNP: rs4673
rs4673
32 0.653 0.600 16 88646828 missense variant A/G;T snv 0.70 0.010 1.000 1 2012 2012
dbSNP: rs5522
rs5522
19 0.732 0.320 4 148436323 missense variant C/T snv 0.88 0.89 0.010 1.000 1 2013 2013
dbSNP: rs6295
rs6295
40 0.645 0.200 5 63962738 intron variant C/G snv 0.49 0.010 1.000 1 2014 2014
dbSNP: rs63750082
rs63750082
13 0.732 0.120 14 73192712 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs63750306
rs63750306
17 0.701 0.320 14 73173663 missense variant A/C;G;T snv 0.010 1.000 1 2004 2004
dbSNP: rs63750424
rs63750424
30 0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs63750756
rs63750756
23 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.010 1.000 1 2005 2005
dbSNP: rs63751273
rs63751273
42 0.645 0.280 17 46010389 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs6584400
rs6584400
6 0.851 0.120 10 81896770 intron variant G/A snv 0.22 0.010 1.000 1 2013 2013
dbSNP: rs7157599
rs7157599
6 0.925 0.040 14 100159565 missense variant C/T snv 0.73 0.76 0.010 1.000 1 2015 2015
dbSNP: rs75548401
rs75548401
GBA
6 0.882 0.160 1 155236246 missense variant G/A snv 5.9E-03 6.2E-03 0.010 1.000 1 2019 2019
dbSNP: rs761715536
rs761715536
3 1.000 0.040 10 111079092 stop gained G/A;T snv 6.4E-06; 1.3E-05 0.010 1.000 1 2019 2019
dbSNP: rs77369218
rs77369218
GBA
7 0.807 0.160 1 155235726 missense variant T/A snv 0.010 1.000 1 2013 2013
dbSNP: rs80356537
rs80356537
17 0.752 0.320 19 41970405 missense variant C/A;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs8074995
rs8074995
5 0.925 0.040 17 66796013 intron variant G/A snv 0.13 0.010 1.000 1 2011 2011