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: rs121434406
rs121434406
SNORD21 ; RPL5 ; DIPK1A
1 1.000 0.080 1 92836283 missense variant G/A snv 1.1E-04 8.4E-05 0.700 1.000 2 2008 2009
dbSNP: rs121434405
rs121434405
RPL5 ; DIPK1A
1 1.000 0.080 1 92833452 stop gained C/T snv 0.700 0
dbSNP: rs1553285006
rs1553285006
RPL5 ; DIPK1A
1 1.000 0.080 1 92833589 missense variant G/A snv 0.700 0
dbSNP: rs587777117
rs587777117
RPL5 ; DIPK1A
1 1.000 0.080 1 92834833 stop gained G/T snv 0.700 0
dbSNP: rs587777118
rs587777118
SNORD21 ; RPL5 ; DIPK1A
1 1.000 0.080 1 92837592 stop gained C/T snv 0.700 0