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: 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: rs876657696
rs876657696
LAMP2
1 1.000 0.160 X 120455460 stop gained C/T snv 0.700 1.000 3 2006 2012
dbSNP: rs104894857
rs104894857
LAMP2
1 1.000 0.160 X 120449006 stop gained G/A snv 0.710 1.000 2 2004 2016
dbSNP: rs397516740
rs397516740
LAMP2
1 1.000 0.160 X 120455461 stop gained C/T snv 0.700 1.000 2 2006 2008
dbSNP: rs1060502305
rs1060502305
LAMP2
1 1.000 0.160 X 120441810 stop gained G/C snv 0.700 1.000 1 2011 2011
dbSNP: rs1271031981
rs1271031981
LAMP2
1 1.000 0.160 X 120456696 stop gained C/T snv 0.700 1.000 1 2005 2005
dbSNP: rs1556101523
rs1556101523
LAMP2
1 1.000 0.160 X 120447886 stop gained A/T snv 0.700 1.000 1 2011 2011
dbSNP: rs1569369940
rs1569369940
LAMP2
1 1.000 0.160 X 120449056 stop gained -/AAACTATTGCATCTAAAAAGGTCATTCAATGGAATTCTGATGGCCAAAAGTTCAT delins 0.700 1.000 1 2005 2005
dbSNP: rs1569371591
rs1569371591
LAMP2
1 1.000 0.160 X 120456697 stop gained C/T snv 0.700 1.000 1 2005 2005
dbSNP: rs1060502306
rs1060502306
LAMP2
1 1.000 0.160 X 120441861 stop gained C/T snv 0.700 0
dbSNP: rs137852527
rs137852527
LAMP2
1 1.000 0.160 X 120449086 stop gained A/T snv 0.700 0
dbSNP: rs1569369194
rs1569369194
LAMP2
1 1.000 0.160 X 120446326 stop gained A/C snv 0.700 0
dbSNP: rs730880483
rs730880483
LAMP2
1 1.000 0.160 X 120446374 stop gained G/T snv 0.700 0
dbSNP: rs876657648
rs876657648
LAMP2
1 1.000 0.160 X 120442615 stop gained A/C snv 0.700 0
dbSNP: rs104894858
rs104894858
LAMP2
2 0.925 0.160 X 120442599 missense variant C/T snv 0.710 1.000 5 2005 2009
dbSNP: rs104894859
rs104894859
LAMP2
2 0.925 0.160 X 120441862 missense variant A/G snv 0.800 1.000 3 2005 2014
dbSNP: rs121908987
rs121908987
PRKAG2
12 0.742 0.200 7 151576412 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs370544157
rs370544157
PRKAA1
3 0.882 0.160 5 40764612 missense variant C/T snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs727504953
rs727504953
LAMP2
2 0.925 0.160 X 120455477 missense variant C/G;T snv 5.5E-06; 4.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs397516751
rs397516751
LAMP2
2 0.925 0.160 X 120446299 splice donor variant TCAC/- delins 0.700 1.000 3 2005 2015
dbSNP: rs727503120
rs727503120
LAMP2
2 0.925 0.160 X 120456650 splice donor variant C/T snv 0.700 1.000 2 2011 2017
dbSNP: rs727504742
rs727504742
LAMP2
1 1.000 0.160 X 120441729 splice donor variant C/G;T snv 0.700 1.000 2 2008 2008
dbSNP: rs1251075016
rs1251075016
LAMP2
1 1.000 0.160 X 120447840 splice donor variant C/T snv 0.700 0
dbSNP: rs727503119
rs727503119
LAMP2
1 1.000 0.160 X 120446304 splice donor variant C/A;T snv 0.700 0
dbSNP: rs1060502302
rs1060502302
LAMP2
1 1.000 0.160 X 120448978 frameshift variant CTC/TA delins 0.700 1.000 1 2011 2011