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
3 0.925 0.160 5 55233261 frameshift variant -/CGGGC;CGGGCCGGGC delins 0.700 1.000 3 2014 2016
dbSNP: rs1060503388
rs1060503388
1 5 55231653 stop gained G/A snv 5.3E-06 0.700 1.000 2 2014 2015
dbSNP: rs587777498
rs587777498
3 0.925 0.160 5 55233272 frameshift variant CAGGG/-;CAGGGCAGGG delins 0.700 1.000 1 2014 2014
dbSNP: rs587777502
rs587777502
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 1.000 1 2014 2014
dbSNP: rs1554019966
rs1554019966
1 5 55232365 missense variant T/C snv 0.700 0
dbSNP: rs774393276
rs774393276
1 5 55232389 frameshift variant -/C delins 2.4E-05 2.8E-05 0.700 0
dbSNP: rs775051461
rs775051461
1 1.000 5 55231790 missense variant A/G snv 9.8E-05 6.3E-05 0.700 0