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: rs587777499
rs587777499
CCNO
3 0.925 0.160 5 55233261 frameshift variant -/CGGGC;CGGGCCGGGC delins 0.700 0
dbSNP: rs587777502
rs587777502
CCNO
3 0.925 0.160 5 55233256 frameshift variant -/TGGGC delins 4.9E-06; 1.3E-04; 4.9E-06; 2.0E-05 0.700 0
dbSNP: rs775051461
rs775051461
CCNO
2 1.000 5 55231790 missense variant A/G snv 9.8E-05 6.3E-05 0.700 0
dbSNP: rs587777503
rs587777503
CCNO
2 0.925 0.160 5 55232446 frameshift variant AG/- delins 4.0E-06 7.0E-06 0.700 0
dbSNP: rs587777498
rs587777498
CCNO
3 0.925 0.160 5 55233272 frameshift variant CAGGG/-;CAGGGCAGGG delins 0.700 0
dbSNP: rs587777500
rs587777500
CCNO
2 0.925 0.160 5 55231502 frameshift variant G/- delins 0.700 0
dbSNP: rs587777501
rs587777501
CCNO
2 0.925 0.160 5 55231467 stop gained G/A snv 0.700 0
dbSNP: rs797045150
rs797045150
CCNO
2 0.925 0.160 5 55231712 missense variant T/C snv 0.700 0