Gene: LAMP2 ×
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: 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: 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