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: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
2 0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04 0.860 1.000 18 1989 2018
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
2 0.776 0.280 X 101398942 missense variant T/C snv 5.5E-06 0.860 1.000 18 1989 2018
dbSNP: rs104894828
rs104894828
GLA ; RPL36A-HNRNPH2
3 0.882 0.160 X 101398467 missense variant C/A;T snv 0.840 1.000 20 1989 2019
dbSNP: rs104894834
rs104894834
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101403846 missense variant G/A snv 0.830 1.000 6 1989 2019
dbSNP: rs869312142
rs869312142
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101403843 missense variant A/G;T snv 0.830 1.000 1 2002 2020
dbSNP: rs104894848
rs104894848
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
1 1.000 0.160 X 101407710 missense variant C/G snv 0.820 1.000 0 1989 2017
dbSNP: rs28935493
rs28935493
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101398074 missense variant C/T snv 9.4E-06 0.810 1.000 7 1989 2017
dbSNP: rs104894831
rs104894831
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
1 1.000 0.160 X 101407786 missense variant G/A snv 0.810 1.000 6 1989 2017
dbSNP: rs869312214
rs869312214
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101398078 stop gained C/A;T snv 0.810 1.000 3 1999 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: rs104894852
rs104894852
GLA ; RPL36A-HNRNPH2
1 0.925 0.200 X 101397871 missense variant T/C snv 0.810 1.000 0 1989 2017
dbSNP: rs28935195
rs28935195
GLA ; RPL36A-HNRNPH2
1 0.925 0.200 X 101401713 missense variant C/T snv 0.810 1.000 0 1989 2017
dbSNP: rs28935494
rs28935494
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101398018 missense variant C/G;T snv 0.810 1.000 0 1989 2020
dbSNP: rs797044613
rs797044613
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
1 1.000 0.160 X 101407780 missense variant T/C;G snv 9.4E-06 0.810 1.000 0 2002 2017
dbSNP: rs104894827
rs104894827
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101398033 missense variant G/A snv 0.800 1.000 14 1989 2017
dbSNP: rs372966991
rs372966991
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101403845 missense variant C/A;T snv 1.1E-05 0.800 1.000 13 1989 2017
dbSNP: rs104894840
rs104894840
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101398906 missense variant C/G;T snv 0.800 1.000 10 1989 2017
dbSNP: rs111422676
rs111422676
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101398011 missense variant C/T snv 5.5E-05 1.3E-04 0.800 1.000 7 2001 2017
dbSNP: rs397515870
rs397515870
GLA ; RPL36A-HNRNPH2
2 1.000 0.160 X 101400692 missense variant G/C;T snv 0.800 1.000 7 1989 2016
dbSNP: rs727504348
rs727504348
GLA ; RPL36A-HNRNPH2
2 0.925 0.160 X 101397982 missense variant C/T snv 0.800 1.000 7 1995 2017
dbSNP: rs190347120
rs190347120
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101398796 missense variant C/A;T snv 5.5E-06 0.800 1.000 6 2002 2017
dbSNP: rs28935486
rs28935486
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101398795 missense variant T/A snv 0.800 1.000 5 1989 2017
dbSNP: rs398123201
rs398123201
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
1 1.000 0.160 X 101407779 missense variant A/G snv 0.800 1.000 5 1989 2017
dbSNP: rs869312344
rs869312344
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101400700 missense variant C/G;T snv 5.5E-06 0.800 1.000 5 1997 2017
dbSNP: rs28935196
rs28935196
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101401695 missense variant A/G snv 0.800 1.000 4 1989 2017