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: rs879255516
rs879255516
CTCF
1 1.000 16 67628550 missense variant C/T snv 0.800 1.000 1 2013 2013
dbSNP: rs1567608876
rs1567608876
CTCF
1 1.000 16 67611604 frameshift variant AAAA/- delins 0.700 0
dbSNP: rs1567609067
rs1567609067
CTCF
1 1.000 16 67612017 missense variant G/A snv 0.700 0
dbSNP: rs879255570
rs879255570
CTCF
1 1.000 16 67611206 frameshift variant -/T delins 0.700 0
dbSNP: rs879255571
rs879255571
CTCF
1 1.000 16 67620792 frameshift variant -/A delins 0.700 0