Source: ALL
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: rs1555378534
rs1555378534
GALC
1 1.000 0.120 14 87939915 frameshift variant A/- delins 0.700 1.000 4 1997 2016
dbSNP: rs374635469
rs374635469
GALC
2 0.925 0.120 14 87986543 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.700 1.000 4 2007 2013
dbSNP: rs377274761
rs377274761
GALC
20 0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 0.700 1.000 4 1996 2016
dbSNP: rs1555383306
rs1555383306
GALC
1 1.000 0.120 14 87982200 splice region variant C/T snv 0.700 1.000 3 1997 2014
dbSNP: rs1555383687
rs1555383687
GALC
1 1.000 0.120 14 87986518 inframe deletion TTA/- del 0.700 1.000 3 2013 2016
dbSNP: rs749708827
rs749708827
GALC
1 1.000 0.120 14 87939916 frameshift variant CGTGA/- delins 7.0E-06 0.700 1.000 3 2011 2016
dbSNP: rs771111145
rs771111145
GALC
1 1.000 0.120 14 87988514 stop gained G/A snv 8.0E-06 1.4E-05 0.700 1.000 3 2010 2016
dbSNP: rs886042057
rs886042057
GALC
1 1.000 0.120 14 87992970 splice region variant C/G snv 9.8E-05 0.700 1.000 3 1996 2013
dbSNP: rs11623
rs11623
GALC
1 1.000 0.120 14 87992996 missense variant C/A;G;T snv 0.700 1.000 2 2007 2015
dbSNP: rs1336726861
rs1336726861
GALC
1 1.000 0.120 14 87939931 frameshift variant -/T delins 0.700 1.000 2 2016 2018
dbSNP: rs1555378701
rs1555378701
GALC
1 1.000 0.120 14 87941516 frameshift variant -/G delins 0.700 1.000 2 2016 2016
dbSNP: rs1555384382
rs1555384382
GALC
1 1.000 0.120 14 87993164 start lost T/C snv 0.700 1.000 2 1993 2016
dbSNP: rs183105855
rs183105855
GALC
1 1.000 0.120 14 87965582 missense variant T/C snv 4.0E-06; 1.5E-03 3.3E-04 0.700 1.000 2 2012 2016
dbSNP: rs750524447
rs750524447
GALC
1 1.000 0.120 14 87968334 splice donor variant C/A;T snv 4.1E-06; 1.6E-05 0.700 1.000 2 2012 2012
dbSNP: rs751975987
rs751975987
GALC
1 1.000 0.120 14 87993029 missense variant C/A;G snv 5.9E-05 0.700 1.000 2 2014 2018
dbSNP: rs758685128
rs758685128
GALC
1 1.000 0.120 14 87993162 start lost C/T snv 7.0E-06 0.700 1.000 2 1993 2010
dbSNP: rs766310671
rs766310671
GALC
1 1.000 0.120 14 87976452 stop gained G/A snv 0.700 1.000 2 2006 2014
dbSNP: rs771489305
rs771489305
GALC
1 1.000 0.120 14 87947745 frameshift variant T/- delins 5.6E-05 0.700 1.000 2 1997 2009
dbSNP: rs780972896
rs780972896
GALC
1 1.000 0.120 14 87993163 start lost A/G;T snv 5.1E-06 0.700 1.000 2 1993 2010
dbSNP: rs786204454
rs786204454
GALC
1 1.000 0.120 14 87965583 frameshift variant A/- delins 0.700 1.000 2 1997 2006
dbSNP: rs1009872980
rs1009872980
GALC
1 1.000 0.120 14 87992969 splice donor variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057516433
rs1057516433
GALC
1 1.000 0.120 14 87939965 frameshift variant A/- del 0.700 1.000 1 2012 2012
dbSNP: rs1057516469
rs1057516469
GALC
1 1.000 0.120 14 87965526 frameshift variant C/- del 4.0E-06 0.700 1.000 1 1997 1997
dbSNP: rs1175630333
rs1175630333
GALC
1 1.000 0.120 14 87939963 missense variant G/A snv 4.0E-06 0.010 1.000 1 1997 1997
dbSNP: rs1178066370
rs1178066370
GALC
1 1.000 0.120 14 87945607 missense variant A/G snv 1.2E-05 0.010 1.000 1 2018 2018