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: rs756606635
rs756606635
CKMT1B ; STRC
1 1.000 0.120 15 43603244 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 3 2001 2016
dbSNP: rs774312182
rs774312182
CKMT1B ; STRC
1 1.000 0.120 15 43604720 stop gained G/A snv 6.0E-05 1.1E-04 0.700 1.000 2 2010 2014
dbSNP: rs144948296
rs144948296
CKMT1B ; STRC
3 0.925 0.120 15 43604750 stop gained G/A;C snv 1.8E-04 0.700 0
dbSNP: rs199839039
rs199839039
CKMT1B ; STRC
1 1.000 0.120 15 43601395 splice donor variant C/T snv 4.0E-05 1.4E-05 0.700 0
dbSNP: rs576724182
rs576724182
STRC
1 1.000 0.120 15 43610350 stop gained G/A snv 4.0E-04 0.700 0
dbSNP: rs727503443
rs727503443
CKMT1B ; STRC
1 1.000 0.120 15 43603362 missense variant C/G snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs748854592
rs748854592
CKMT1B ; STRC
3 0.882 0.160 15 43604153 splice acceptor variant C/T snv 5.1E-05 6.3E-05 0.700 0
dbSNP: rs763904943
rs763904943
CKMT1B ; STRC
2 1.000 0.120 15 43601533 stop gained C/A;T snv 1.2E-05 0.700 0
dbSNP: rs778909195
rs778909195
CKMT1B ; STRC
1 1.000 0.120 15 43604020 stop gained G/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs786200882
rs786200882
STRC
1 1.000 0.120 15 43611297 frameshift variant -/G delins 0.700 0
dbSNP: rs786200883
rs786200883
STRC
1 1.000 0.120 15 43614436 frameshift variant AACA/- delins 2.0E-05 1.0E-04 0.700 0