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: rs1554464495
rs1554464495
COG5
1 1.000 0.120 7 107558114 splice acceptor variant C/- delins 0.700 1.000 1 2012 2012
dbSNP: rs1135401817
rs1135401817
COG5
1 1.000 0.120 7 107211163 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs1231928102
rs1231928102
COG5
1 1.000 0.120 7 107527288 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs1562937199
rs1562937199
COG5
1 1.000 0.120 7 107258398 non coding transcript exon variant T/C snv 0.700 0
dbSNP: rs773281248
rs773281248
COG5
1 1.000 0.120 7 107283630 frameshift variant -/G delins 7.0E-06 0.700 0