Gene: GLA ×
Source: CLINVAR ×
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: rs1555984840
rs1555984840
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101398043 frameshift variant AG/- del 0.700 1.000 1 2018 2018
dbSNP: rs398123226
rs398123226
GLA ; RPL36A-HNRNPH2
1 0.882 0.160 X 101398403 missense variant G/C;T snv 0.710 1.000 0 2017 2017
dbSNP: rs1569303218
rs1569303218
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101398816 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs727503950
rs727503950
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101400712 missense variant A/G snv 1.1E-05 1.9E-05 0.800 1.000 1 2016 2016
dbSNP: rs869312134
rs869312134
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
1 1.000 0.160 X 101407845 missense variant G/T snv 0.800 1.000 1 2016 2016
dbSNP: rs869312135
rs869312135
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
1 1.000 0.160 X 101407842 missense variant A/G snv 0.800 1.000 1 2016 2016
dbSNP: rs869312136
rs869312136
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
1 1.000 0.160 X 101407806 missense variant T/C snv 0.800 1.000 1 2016 2016
dbSNP: rs869312137
rs869312137
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
1 1.000 0.160 X 101407800 missense variant C/T snv 0.800 1.000 1 2016 2016
dbSNP: rs869312138
rs869312138
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
1 1.000 0.160 X 101407797 missense variant A/C snv 0.800 1.000 1 2016 2016
dbSNP: rs869312140
rs869312140
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101403924 missense variant A/G snv 0.800 1.000 1 2016 2016
dbSNP: rs869312145
rs869312145
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101401639 missense variant C/A snv 0.800 1.000 1 2016 2016
dbSNP: rs869312148
rs869312148
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101400695 missense variant A/G snv 0.800 1.000 1 2016 2016
dbSNP: rs869312401
rs869312401
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101398804 missense variant C/A snv 0.700 1.000 5 2013 2018
dbSNP: rs1569302887
rs1569302887
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101398374 frameshift variant -/T delins 0.700 1.000 1 2013 2013
dbSNP: rs1569304851
rs1569304851
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101403873 stop gained C/A snv 0.700 1.000 1 2013 2013
dbSNP: rs730880442
rs730880442
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101397870 missense variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs869312203
rs869312203
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101398109 intron variant C/T snv 0.700 1.000 2 2011 2017
dbSNP: rs398123217
rs398123217
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101398939 missense variant T/C snv 0.700 1.000 4 2010 2017
dbSNP: rs869312141
rs869312141
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101403908 missense variant A/G;T snv 0.810 1.000 1 2009 2016
dbSNP: rs112341092
rs112341092
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101397855 missense variant A/G snv 0.700 1.000 9 2008 2015
dbSNP: rs398123223
rs398123223
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101398470 missense variant A/G snv 0.700 1.000 6 2007 2015
dbSNP: rs730880450
rs730880450
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101398873 missense variant C/T snv 0.700 1.000 3 2007 2016
dbSNP: rs869312226
rs869312226
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
1 1.000 0.160 X 101407795 missense variant C/G;T snv 0.700 1.000 1 2007 2007
dbSNP: rs869312427
rs869312427
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101398564 missense variant C/G;T snv 0.700 1.000 5 2006 2014
dbSNP: rs797044775
rs797044775
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101397942 missense variant T/G snv 0.700 1.000 3 2006 2015