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: rs878854407
rs878854407
MAGED2 ; SNORA11
1 1.000 X 54814725 missense variant C/T snv 0.800 1.000 1 2016 2016
dbSNP: rs875989852
rs875989852
MAGED2
1 1.000 X 54810073 stop gained A/G;T snv 5.7E-06 0.700 0
dbSNP: rs878854404
rs878854404
MAGED2
1 1.000 X 54812204 stop gained C/G snv 0.700 0
dbSNP: rs878854405
rs878854405
MAGED2
1 1.000 X 54812155 splice acceptor variant A/G snv 0.700 0
dbSNP: rs878854406
rs878854406
MAGED2
1 1.000 X 54810060 frameshift variant TG/- delins 0.700 0