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: rs193922649
rs193922649
LAMP2
2 0.925 0.160 X 120449063 frameshift variant T/- del 0.700 0
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