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: rs281865115
rs281865115
MARK4 ; TRAPPC6A ; BLOC1S3
1 1.000 19 45179427 stop gained C/A snv 0.700 0
dbSNP: rs281865116
rs281865116
MARK4 ; TRAPPC6A ; BLOC1S3
2 0.925 0.200 19 45179742 frameshift variant C/- delins 0.700 0