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: rs199473684
rs199473684
GLA ; RPL36A-HNRNPH2
3 0.925 0.160 X 101399747 3 prime UTR variant C/T snv 0.700 1.000 13 2002 2017
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
10 0.776 0.280 X 101398942 missense variant T/C snv 5.5E-06 0.700 1.000 11 1993 2017
dbSNP: rs104894858
rs104894858
LAMP2
2 0.925 0.160 X 120442599 missense variant C/T snv 0.700 1.000 5 2005 2009
dbSNP: rs727503118
rs727503118
LAMP2
2 0.925 0.160 X 120442650 stop gained G/A;T snv 9.8E-05 0.700 1.000 3 2010 2012
dbSNP: rs727504348
rs727504348
GLA ; RPL36A-HNRNPH2
2 0.925 0.160 X 101397982 missense variant C/T snv 0.700 1.000 3 1995 2007
dbSNP: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
11 0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05 0.010 1.000 1 2016 2016
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
8 0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04 0.010 1.000 1 2015 2015
dbSNP: rs1403543
rs1403543
AGTR2
2 1.000 0.040 X 116170939 intron variant G/A snv 0.48 0.010 1.000 1 2011 2011
dbSNP: rs2106809
rs2106809
ACE2
8 0.827 0.120 X 15599938 intron variant A/G snv 0.19 0.010 1.000 1 2008 2008
dbSNP: rs397515871
rs397515871
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
1 1.000 0.040 X 101407834 missense variant A/T snv 0.010 1.000 1 2012 2012
dbSNP: rs398123226
rs398123226
GLA ; RPL36A-HNRNPH2
3 0.882 0.160 X 101398403 missense variant G/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs6632677
rs6632677
ACE2
4 0.851 0.120 X 15596749 intron variant G/C snv 5.0E-03 0.010 1.000 1 2008 2008
dbSNP: rs397516736
rs397516736
LAMP2
1 1.000 0.040 X 120456651 stop gained A/C;G;T snv 1.9E-05 0.700 0
dbSNP: rs397516738
rs397516738
LAMP2
1 1.000 0.040 X 120455563 frameshift variant A/- del 0.700 0
dbSNP: rs397516739
rs397516739
LAMP2
1 1.000 0.040 X 120455536 frameshift variant -/T delins 5.5E-06 0.700 0
dbSNP: rs397516751
rs397516751
LAMP2
2 0.925 0.160 X 120446299 splice donor variant TCAC/- delins 0.700 0
dbSNP: rs397516752
rs397516752
LAMP2
1 1.000 0.040 X 120442663 splice acceptor variant C/G snv 0.700 0
dbSNP: rs727503120
rs727503120
LAMP2
2 0.925 0.160 X 120456650 splice donor variant C/T snv 0.700 0
dbSNP: rs730880344
rs730880344
LAMP2
2 0.925 0.160 X 120456704 frameshift variant -/TA delins 0.700 0
dbSNP: rs1326977511
rs1326977511
JPH2
1 1.000 0.040 20 44116369 missense variant G/A;C snv 3.6E-05; 7.2E-06 0.010 1.000 1 2007 2007
dbSNP: rs140740776
rs140740776
JPH2
1 1.000 0.040 20 44116162 missense variant C/G;T snv 3.9E-05; 9.1E-03 0.010 1.000 1 2007 2007
dbSNP: rs387906898
rs387906898
JPH2
2 0.925 0.040 20 44160293 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs587782951
rs587782951
JPH2
6 0.807 0.080 20 44160305 missense variant G/T snv 0.010 1.000 1 2018 2018
dbSNP: rs104894724
rs104894724
TNNI3
8 0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06 0.740 1.000 30 1997 2016
dbSNP: rs397516354
rs397516354
TNNI3
8 0.790 0.120 19 55154094 missense variant C/A;G;T snv 4.0E-05 0.700 1.000 22 1997 2017