Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1569054086
CHKB-CPT1B ; CHKB-DT ; CHKB
1.000 0.120 22 50581814 stop gained C/A snv 1
rs146163970
CHKB-CPT1B ; CHKB ; CHKB-DT
1.000 0.120 22 50582319 missense variant G/A snv 3.0E-04 2.4E-04 1
rs387907068
CHKB-CPT1B ; CHKB ; CHKB-DT
1.000 0.120 22 50582666 stop gained G/A;T snv 1
rs131746
CHKB-DT ; CHKB
22 50587166 intron variant C/G snv 0.43 1
rs131749
CHKB-DT ; CHKB
22 50586195 intron variant T/C snv 0.72 1
rs140513
CHKB-DT ; CHKB
22 50589826 intron variant C/G;T snv 1
rs1333100080
CHKB-DT ; CHKB ; CHKB-CPT1B
1.000 0.120 22 50581796 stop gained G/A snv 4.0E-06 1
rs1569054508
CHKB-DT ; CHKB ; CHKB-CPT1B
1.000 0.120 22 50582314 frameshift variant G/- delins 1
rs131748
CHKB ; CHKB-DT
22 50586408 intron variant G/A;C snv 1
rs131750
CHKB ; CHKB-DT
22 50585879 non coding transcript exon variant T/C snv 0.38 1
rs786205117
CHKB ; CHKB-DT ; CHKB-CPT1B
1.000 0.120 22 50581542 frameshift variant -/A delins 1