Gene: GLA ×
Source: BEFREE ×
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
7 0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04 0.860 1.000 6 1989 2018
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
9 0.776 0.280 X 101398942 missense variant T/C snv 5.5E-06 0.860 1.000 6 1989 2018
dbSNP: rs104894828
rs104894828
GLA ; RPL36A-HNRNPH2
1 0.882 0.160 X 101398467 missense variant C/A;T snv 0.840 1.000 4 1989 2019
dbSNP: rs104894834
rs104894834
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101403846 missense variant G/A snv 0.830 1.000 3 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 3 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 2 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 1 1989 2017
dbSNP: rs104894852
rs104894852
GLA ; RPL36A-HNRNPH2
3 0.925 0.200 X 101397871 missense variant T/C snv 0.810 1.000 1 1989 2017
dbSNP: rs28935195
rs28935195
GLA ; RPL36A-HNRNPH2
2 0.925 0.200 X 101401713 missense variant C/T snv 0.810 1.000 1 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 1 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 1 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 1 2002 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: rs869312214
rs869312214
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101398078 stop gained C/A;T snv 0.810 1.000 1 1999 2017
dbSNP: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
11 0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05 0.800 0.976 13 1989 2018
dbSNP: rs28935490
rs28935490
GLA ; RPL36A-HNRNPH2
3 1.000 0.160 X 101398432 missense variant C/A;T snv 3.0E-03; 5.4E-06 0.780 1.000 8 1989 2019
dbSNP: rs148158093
rs148158093
GLA ; RPL36A-HNRNPH2
3 0.925 0.200 X 101403828 missense variant G/A snv 2.2E-04 4.0E-04 0.760 1.000 6 1990 2019
dbSNP: rs104894846
rs104894846
GLA ; RPL36A-HNRNPH2
1 0.925 0.160 X 101398481 missense variant C/T snv 0.710 1.000 1 1989 2019
dbSNP: rs104894851
rs104894851
GLA ; RPL36A-HNRNPH2
3 0.925 0.200 X 101398920 stop gained G/T snv 0.710 1.000 1 2003 2003
dbSNP: rs28935485
rs28935485
GLA ; RPL36A-HNRNPH2
2 0.925 0.160 X 101398534 missense variant G/C snv 0.710 1.000 1 1989 2016
dbSNP: rs398123226
rs398123226
GLA ; RPL36A-HNRNPH2
3 0.882 0.160 X 101398403 missense variant G/C;T snv 0.710 1.000 1 2017 2017
dbSNP: rs727503949
rs727503949
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101398928 stop gained G/A snv 0.710 1.000 1 2004 2004
dbSNP: rs869312386
rs869312386
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101398878 missense variant C/A;G snv 0.710 1.000 1 2018 2018
dbSNP: rs869312407
rs869312407
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101398790 missense variant C/T snv 0.710 1.000 1 1989 2016
dbSNP: rs886041315
rs886041315
GLA ; RPL36A-HNRNPH2
1 1.000 0.160 X 101403906 missense variant C/A;T snv 0.710 1.000 1 2019 2019